390406 chr16:75661649:T>A KARS NM_005548:c.*144A>T THREE_PRIME_EXON Unknown significance rs533064131 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390407 chr16:75661702:G>A KARS NM_005548:c.*91C>T THREE_PRIME_EXON Benign rs527236481 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 0 1008 0 12 978 0.0123 12 5008 0.00239617 390408 chr16:75661734:C>T KARS NM_005548:c.*59G>A THREE_PRIME_EXON Benign rs11505 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 67 1322 0.0507 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 69 5008 0.013778 390410 chr16:75661754:C>G KARS NM_005548:c.*39G>C THREE_PRIME_EXON Unknown significance rs751510371 This variant is a VUS because it does not have enough information. 0 10334 0 0 11532 0 0 8644 0 0 6596 0 1 66536 0.0000150295 0 906 0 0 16510 0 1 121058 0.0000082605 390409 chr16:75661754:CAAAGACGC>- KARS NM_005548:c.*39_*49delGCGTCTTTG THREE_PRIME_EXON Unknown significance rs759971006 This variant is a VUS because it does not have enough information. 0 10332 0 1 11534 0.0000867002 0 8644 0 0 6596 0 0 66534 0 0 906 0 0 16510 0 1 121056 0.00000826064 390411 chr16:75661755:A>G KARS NM_005548:c.*38T>C THREE_PRIME_EXON Unknown significance rs1802511 This variant is a VUS because it does not have enough information. 390412 chr16:75661757:A>C KARS NM_005548:c.*36T>G THREE_PRIME_EXON Unknown significance rs757209685 This variant is a VUS because it does not have enough information. 0 10340 0 0 11540 0 0 8646 0 0 6598 0 2 66572 0.0000300427 0 906 0 0 16510 0 2 121112 0.0000165136 390414 chr16:75661760:C>G KARS NM_005548:c.*33G>C THREE_PRIME_EXON Unknown significance rs111679674 This variant is a VUS because it does not have enough information. 390413 chr16:75661760:C>T KARS NM_005548:c.*33G>A THREE_PRIME_EXON Benign rs111679674 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 87 8600 0.0101163 6 4396 0.00136488 93 12996 0.00715605 1 1322 0.0008 21 1006 0.0209 3 694 0.0043 1 1008 0.001 1 978 0.001 27 5008 0.00539137 15 10346 0.00144984 37 11536 0.00320735 0 8648 0 231 6600 0.035 738 66584 0.0110837 17 906 0.0187638 34 16510 0.00205936 1072 121130 0.00885 390415 chr16:75661761:G>A KARS NM_005548:c.*32C>T THREE_PRIME_EXON Unknown significance rs750234986 This variant is a VUS because it does not have enough information. 0 10346 0 0 11542 0 0 8650 0 0 6600 0 1 66600 0.000015015 0 906 0 0 16510 0 1 121154 0.00000825396 390416 chr16:75661763:CT>- KARS NM_005548:c.*30_*33delAG THREE_PRIME_EXON Unknown significance rs767901895 This variant is a VUS because it does not have enough information. 390418 chr16:75661767:G>A KARS NM_005548:c.*26C>T THREE_PRIME_EXON Unknown significance rs78654839 This variant is a VUS because it does not have enough information. 0 10356 0 0 11544 0 0 8654 0 0 6602 0 0 66628 0 0 906 0 4 16510 0.000242277 4 121200 0.0000330033 390417 chr16:75661767:G>C KARS NM_005548:c.*26C>G THREE_PRIME_EXON Benign rs78654839 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 80 8600 0.00930233 6 4396 0.00136488 86 12996 0.00661742 0 1322 0 21 1006 0.0209 3 694 0.0043 0 1008 0 0 978 0 24 5008 0.00479233 15 10356 0.00144844 37 11544 0.00320513 0 8654 0 231 6602 0.0349894 637 66628 0.00956055 14 906 0.0154525 30 16510 0.00181708 964 121200 0.0079538 390419 chr16:75661769:->TGTA KARS NM_005548:c.*24_*25insTACA THREE_PRIME_EXON Unknown significance rs753082472 This variant is a VUS because it does not have enough information. 390420 chr16:75661769:T>C KARS NM_005548:c.*24A>G THREE_PRIME_EXON Unknown significance rs748316661 This variant is a VUS because it does not have enough information. 0 10360 0 0 11552 0 0 8654 0 0 6602 0 0 66642 0 0 906 0 1 16510 0.0000605694 1 121226 0.00000824906 390421 chr16:75661771:T>C KARS NM_005548:c.*22A>G THREE_PRIME_EXON Unknown significance rs376960548 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10358 0 1 11560 0.0000865052 0 8654 0 0 6604 0 5 66646 0.0000750233 0 906 0 0 16510 0 6 121238 0.0000494894 390422 chr16:75661772:A>G KARS NM_005548:c.*21T>C THREE_PRIME_EXON Unknown significance rs778053495 This variant is a VUS because it does not have enough information. 1 10360 0.0000965251 0 11560 0 7 8654 0.000808875 0 6604 0 0 66646 0 0 908 0 1 16510 0.0000605694 9 121242 0.0000742317 390423 chr16:75661776:C>T KARS NM_005548:c.*17G>A THREE_PRIME_EXON Unknown significance rs747105466 This variant is a VUS because it does not have enough information. 0 10368 0 6 11566 0.000518762 0 8654 0 0 6606 0 0 66660 0 0 908 0 0 16510 0 6 121272 0.0000494756 390424 chr16:75661792:T>C KARS NM_005548:c.*1A>G THREE_PRIME_EXON Unknown significance rs771377883 This variant is a VUS because it does not have enough information. 0 10382 0 0 11574 0 0 8654 0 0 6610 0 0 66714 0 0 908 0 4 16510 0.000242277 4 121352 0.000032962 390425 chr16:75661793:C>T KARS NM_005548:p.Stop598Stop NM_005548:c.1794G>A EXON14 Unknown significance rs781705880 This variant is a VUS because it does not have enough information. 0 10382 0 0 11574 0 6 8654 0.000693321 0 6610 0 0 66710 0 0 908 0 0 16510 0 6 121348 0.0000494446 390426 chr16:75661798:C>- KARS NM_005548:c.1789delG EXON14 Unknown significance rs755761756 This variant is a VUS because it does not have enough information. 1 10386 0.0000962835 0 11576 0 0 8654 0 0 6612 0 0 66720 0 0 908 0 0 16510 0 1 121366 0.00000823954 390427 chr16:75661803:G>C KARS NM_005548:p.Thr595Ser NM_005548:c.1784C>G EXON14 Benign rs6834 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 1.048 C 0.18;0.128 T 0.021;0.012 B 0.000005 D 0.999994 P;P;P 5.82 C 348 8600 0.0404651 1426 4396 0.324386 1774 12996 0.136504 472 1322 0.357 58 1006 0.0577 24 694 0.0346 8 1008 0.0079 63 978 0.0644 625 5008 0.1248 3424 10394 0.329421 302 11578 0.026084 48 8654 0.00554657 449 6614 0.0678863 2804 66728 0.0420213 61 908 0.0671806 890 16510 0.0539067 7978 121386 0.0657242 390428 chr16:75661805:G>A KARS NM_005548:p.Gly594Gly NM_005548:c.1782C>T EXON14 Benign rs191584337 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 5 1008 0.005 1 978 0.001 6 5008 0.00119808 0 10394 0 0 11578 0 59 8654 0.00681766 0 6614 0 1 66728 0.0000149862 1 908 0.00110132 7 16510 0.000423985 68 121386 0.000560196 390429 chr16:75661810:C>A KARS NM_005548:p.Val593Phe NM_005548:c.1777G>T EXON14 Likely benign rs551766380 Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic. -0.322 N 0.023;0.031 D 0.314;0.108 B 0.571428 N 1 N;N;N -4.07 N 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10396 0.0000961908 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121390 0.00000823791 390430 chr16:75661825:G>A KARS NM_005548:p.Leu588Leu NM_005548:c.1762C>T EXON14 Unknown significance rs762532843 This variant is a VUS because it does not have enough information. 0 10392 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66728 0 0 908 0 0 16510 0 1 121384 0.00000823832 390431 chr16:75661827:G>- KARS NM_005548:c.1760delC EXON14 Unknown significance rs763797026 This variant is a VUS because it does not have enough information. 2 10398 0.000192345 0 11578 0 0 8654 0 0 6614 0 0 66728 0 0 908 0 0 16510 0 2 121390 0.0000164758 390432 chr16:75661827:G>T KARS NM_005548:p.Thr587Lys NM_005548:c.1760C>A EXON14 Likely benign rs768294238 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 1.048 C 0.593;0.753 T 0.009;0.126 B 0.898257 N 1 N;N;N 1.09 C 0 10394 0 0 11578 0 0 8654 0 0 6614 0 0 66728 0 0 908 0 2 16510 0.000121139 2 121386 0.0000164764 390433 chr16:75661833:G>A KARS NM_005548:p.Thr585Ile NM_005548:c.1754C>T EXON14 Unknown significance rs549619745 This variant is a VUS because it does not have enough information. 1.048 C 0.053;0.047 T;D 0.012;0.007 B 0.854636 N 1 D;N;N 4.86 C 390434 chr16:75661835:G>C KARS NM_005548:p.Thr584Thr NM_005548:c.1752C>G EXON14 Unknown significance rs144390077 This variant is a VUS because it does not have enough information. 0.142 N 0.0 D 1 N;N;N -2.41 N 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 0 11578 0 0 8654 0 0 6614 0 2 66730 0.0000299715 0 908 0 0 16510 0 2 121392 0.0000164756 390435 chr16:75661838:T>C KARS NM_005548:p.Ala583Ala NM_005548:c.1749A>G EXON14 Unknown significance rs761365283 This variant is a VUS because it does not have enough information. -1.497 N 0.0 D 1 N;N;N -10.0 N 0 10398 0 0 11578 0 1 8654 0.000115554 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121392 0.00000823778 390436 chr16:75661841:T>C KARS NM_005548:p.Val582Val NM_005548:c.1746A>G EXON14 Unknown significance rs767379297 This variant is a VUS because it does not have enough information. 0.122 N 0.0 D 1 N;N;N 2.18 C 0 10398 0 2 11578 0.000172741 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 2 121392 0.0000164756 390437 chr16:75661842:A>G KARS NM_005548:p.Val582Ala NM_005548:c.1745T>C EXON14 Likely benign rs750338644 Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic. -0.803 N 0.954;0.931 T 0.0 B 0.993919 N 1 N;N;N -0.949 N 1 10398 0.0000961723 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121392 0.00000823778 390438 chr16:75661842:A>T KARS NM_005548:p.Val582Glu NM_005548:c.1745T>A EXON14 Unknown significance rs750338644 This variant is a VUS because it does not have enough information. -0.803 N 0.999575 D;N;N -0.949 N 0 10398 0 2 11578 0.000172741 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 2 121392 0.0000164756 390439 chr16:75661845:T>G KARS NM_005548:p.Asn581Thr NM_005548:c.1742A>C EXON14 Unknown significance rs117561624 This variant is a VUS because it does not have enough information. -0.822 N 0.0 D 1 N;N;N -1.26 N 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10400 0 0 11578 0 0 8654 0 0 6614 0 3 66730 0.0000449573 0 908 0 0 16510 0 3 121394 0.0000247129 390440 chr16:75661847:C>T KARS NM_005548:p.Glu580Glu NM_005548:c.1740G>A EXON14 Unknown significance rs753675208 This variant is a VUS because it does not have enough information. -0.929 N 0.0 D 1 D;N -3.19 N 0 10398 0 0 11578 0 0 8654 0 0 6614 0 2 66730 0.0000299715 0 908 0 1 16510 0.0000605694 3 121392 0.0000247133 390441 chr16:75661850:CTT>- KARS NM_005548:c.1737_1741delAAG EXON14 Unknown significance rs753346124 This variant is a VUS because it does not have enough information. 0 10398 0 0 11578 0 0 8654 0 0 6614 0 6 66730 0.0000899146 0 908 0 0 16510 0 6 121392 0.0000494267 390442 chr16:75661852:TCTTG>- KARS NM_005548:c.1735_1741delCAAGA EXON14 Unknown significance rs756837046 This variant is a VUS because it does not have enough information. 390443 chr16:75661853:C>G KARS NM_005548:p.Lys578Asn NM_005548:c.1734G>C EXON14 Unknown significance rs372437633 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.995425 D;D;N 5.82 C 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 0 11578 0 0 8654 0 0 6614 0 4 66718 0.0000599538 0 908 0 0 16510 0 4 121380 0.0000329544 390444 chr16:75661862:G>A KARS NM_005548:p.Pro575Pro NM_005548:c.1725C>T EXON14 Unknown significance rs184022101 This variant is a VUS because it does not have enough information. -0.725 N 1 D;D;D -11.6 N 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10400 0 0 11578 0 28 8654 0.0032355 0 6614 0 1 66730 0.0000149858 0 908 0 0 16510 0 29 121394 0.000238892 390445 chr16:75661863:G>C KARS NM_005548:p.Pro575Arg NM_005548:c.1724C>G EXON14 Unknown significance rs148798578 This variant is a VUS because it does not have enough information. 1.048 C 0.0 D 0.945;0.994 P;D 0 D 1 D;D;D 5.82 C 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10398 0 1 11578 0.0000863707 0 8654 0 0 6614 0 2 66730 0.0000299715 0 908 0 0 16510 0 3 121392 0.0000247133 390446 chr16:75661865:T>C KARS NM_005548:p.Lys574Lys NM_005548:c.1722A>G EXON14 Unknown significance rs757309903 This variant is a VUS because it does not have enough information. 0.144 N 0.0 D 1 D;N 2.32 C 1 10396 0.0000961908 0 11578 0 0 8654 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 1 121390 0.00000823791 390447 chr16:75661871:G>A KARS NM_005548:p.Ala572Ala NM_005548:c.1716C>T EXON14 Unknown significance rs781580580 This variant is a VUS because it does not have enough information. -0.235 N 0.0 D 1 D;N 2.84 C 0 10396 0 0 11576 0 0 8654 0 0 6610 0 2 66728 0.0000299724 0 908 0 0 16510 0 2 121382 0.0000164769 390448 chr16:75661872:G>A KARS NM_005548:p.Ala572Val NM_005548:c.1715C>T EXON14 Unknown significance rs746320017 This variant is a VUS because it does not have enough information. 1.048 C 0.02;0.029 D 0.586;0.999 P;D 0 D 1 D;D;D 5.82 C 0 10396 0 0 11576 0 0 8654 0 0 6610 0 2 66728 0.0000299724 0 908 0 0 16510 0 2 121382 0.0000164769 390449 chr16:75661875:G>A KARS NM_005548:p.Pro571Leu NM_005548:c.1712C>T EXON14 Unknown significance rs1802510 This variant is a VUS because it does not have enough information. 1.048 C 0.001 D 1.0 D 0 D 1 D;D;D 6.03 C 390450 chr16:75661877:A>G KARS NM_005548:p.Phe570Phe NM_005548:c.1710T>C EXON14 Unknown significance rs770155332 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 1 D;N 4.95 C 390451 chr16:75661880:C>G KARS NM_005548:p.Leu569Leu NM_005548:c.1707G>C EXON14 Unknown significance rs780454206 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 1 D;N 4.01 C 0 10390 0 1 11576 0.0000863856 0 8654 0 0 6608 0 0 66732 0 0 908 0 0 16510 0 1 121378 0.00000823873 390452 chr16:75661883:A>T KARS NM_005548:p.Leu568Leu NM_005548:c.1704T>A EXON14 Unknown significance rs549959474 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 1 D;N 2.53 C 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10390 0 0 11576 0 0 8654 0 0 6608 0 0 66724 0 0 908 0 1 16510 0.0000605694 1 121370 0.00000823927 390453 chr16:75661885:G>A KARS NM_005548:p.Leu568Phe NM_005548:c.1702C>T EXON14 Unknown significance rs768349236 This variant is a VUS because it does not have enough information. 1.048 C 0.001 D 1.0 D 0 D 1 D;D;N 6.03 C 0 10388 0 0 11576 0 1 8654 0.000115554 0 6608 0 0 66720 0 0 908 0 0 16510 0 1 121364 0.00000823968 390454 chr16:75661898:G>T KARS NM_005548:c.1696-7C>A INTRON13 Unknown significance rs375700761 This variant is a VUS because it does not have enough information. 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 10380 0.0000963391 0 11572 0 0 8654 0 0 6606 0 0 66698 0 0 908 0 0 16510 0 1 121328 0.00000824212 390455 chr16:75661900:G>A KARS NM_005548:c.1696-9C>T INTRON13 Unknown significance rs761263838 This variant is a VUS because it does not have enough information. 0 10380 0 0 11572 0 0 8654 0 0 6604 0 1 66696 0.0000149934 0 908 0 0 16510 0 1 121324 0.00000824239 390456 chr16:75661903:A>G KARS NM_005548:c.1696-12T>C INTRON13 Unknown significance rs370325473 This variant is a VUS because it does not have enough information. 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 10382 0.0000963206 0 11572 0 0 8654 0 0 6602 0 0 66694 0 0 908 0 0 16510 0 1 121322 0.00000824253 390457 chr16:75661905:G>T KARS NM_005548:c.1696-14C>A INTRON13 Unknown significance rs773042139 This variant is a VUS because it does not have enough information. 0 10380 0 0 11572 0 0 8654 0 0 6602 0 1 66690 0.0000149948 0 908 0 0 16510 0 1 121316 0.00000824294 390458 chr16:75661908:T>C KARS NM_005548:c.1696-17A>G INTRON13 Unknown significance rs760726913 This variant is a VUS because it does not have enough information. 0 10382 0 0 11568 0 0 8654 0 0 6600 0 1 66686 0.0000149957 0 908 0 0 16510 0 1 121308 0.00000824348 390459 chr16:75661910:T>C KARS NM_005548:c.1696-19A>G INTRON13 Unknown significance rs766411635 This variant is a VUS because it does not have enough information. 0 10380 0 0 11566 0 0 8654 0 1 6600 0.000151515 0 66682 0 0 908 0 0 16510 0 1 121300 0.00000824402 390460 chr16:75661912:C>T KARS NM_005548:c.1696-21G>A INTRON13 Benign rs188921559 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 50 8600 0.00581395 11 4396 0.00250227 61 12996 0.00469375 0 1322 0 2 1006 0.002 6 694 0.0086 0 1008 0 0 978 0 8 5008 0.00159744 19 10380 0.00183044 18 11564 0.00155655 0 8652 0 3 6600 0.000454545 310 66676 0.00464935 2 908 0.00220264 4 16510 0.000242277 356 121290 0.00293511 390461 chr16:75661918:A>G KARS NM_005548:c.1696-27T>C INTRON13 Unknown significance rs371823244 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 1 10374 0.0000963948 0 11564 0 0 8652 0 0 6600 0 3 66670 0.0000449978 0 908 0 0 16510 0 4 121278 0.0000329821 390462 chr16:75661930:CT>- KARS NM_005548:c.1696-39_1696-36delAG INTRON13 Unknown significance rs778496609 This variant is a VUS because it does not have enough information. 390463 chr16:75661939:->T KARS NM_005548:c.1696-48_1696-47insA INTRON13 Unknown significance rs767554762 This variant is a VUS because it does not have enough information. 390464 chr16:75661976:T>C KARS NM_005548:c.1696-85A>G INTRON13 Unknown significance rs753428124 This variant is a VUS because it does not have enough information. 390465 chr16:75661991:T>C KARS NM_005548:c.1696-100A>G INTRON13 Unknown significance rs535745141 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361 390466 chr16:75662025:AT>- KARS NM_005548:c.1696-134_1696-131delAT INTRON13 Benign rs534800871 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 13 1322 0.0098 0 1006 0 0 694 0 0 1008 0 0 978 0 13 5008 0.00259585 390467 chr16:75662027:G>A KARS NM_005548:c.1696-136C>T INTRON13 Unknown significance rs555726202 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390468 chr16:75662122:G>C KARS NM_005548:c.1696-231C>G INTRON13 Benign rs150605875 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 15 1322 0.0113 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 16 5008 0.00319489 390469 chr16:75662124:C>T KARS NM_005548:c.1696-233G>A INTRON13 Unknown significance rs761259904 This variant is a VUS because it does not have enough information. 390470 chr16:75662125:G>A KARS NM_005548:c.1696-234C>T INTRON13 Benign rs139697087 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 20 1322 0.0151 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 21 5008 0.00419329 390471 chr16:75662129:T>G KARS NM_005548:c.1696-238A>C INTRON13 Benign rs190958687 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 7 5008 0.00139776 390472 chr16:75662141:T>C KARS NM_005548:c.1696-250A>G INTRON13 Unknown significance rs368278025 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390473 chr16:75662143:G>C KARS NM_005548:c.1696-252C>G INTRON13 Benign rs182467493 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 7 5008 0.00139776 390474 chr16:75662168:A>C KARS NM_005548:c.1696-277T>G INTRON13 Unknown significance rs563533770 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390475 chr16:75662182:C>T KARS NM_005548:c.1695+285G>A INTRON13 Unknown significance rs764746469 This variant is a VUS because it does not have enough information. 390476 chr16:75662187:C>G KARS NM_005548:c.1695+280G>C INTRON13 Unknown significance rs186710394 This variant is a VUS because it does not have enough information. 390477 chr16:75662187:C>T KARS NM_005548:c.1695+280G>A INTRON13 Unknown significance rs186710394 This variant is a VUS because it does not have enough information. 390478 chr16:75662188:A>C KARS NM_005548:c.1695+279T>G INTRON13 Unknown significance rs371271298 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 390479 chr16:75662210:A>- KARS NM_005548:c.1695+257delT INTRON13 Unknown significance rs780547621 This variant is a VUS because it does not have enough information. 390480 chr16:75662220:C>T KARS NM_005548:c.1695+247G>A INTRON13 Benign rs8051771 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 533 1322 0.4032 60 1006 0.0596 25 694 0.036 8 1008 0.0079 54 978 0.0552 680 5008 0.135783 390481 chr16:75662221:G>A KARS NM_005548:c.1695+246C>T INTRON13 Unknown significance rs780624716 This variant is a VUS because it does not have enough information. 390482 chr16:75662280:G>- KARS NM_005548:c.1695+187delC INTRON13 Benign rs5817957 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 117 1322 0.0885 17 1006 0.0169 16 694 0.0231 39 1008 0.0387 73 978 0.0746 262 5008 0.0523163 390483 chr16:75662282:->A KARS NM_005548:c.1695+185_1695+186insT INTRON13 Unknown significance rs752062672 This variant is a VUS because it does not have enough information. 390484 chr16:75662288:->C KARS NM_005548:c.1695+179_1695+180insG INTRON13 Unknown significance rs34920043 This variant is a VUS because it does not have enough information. 390485 chr16:75662304:T>C KARS NM_005548:c.1695+163A>G INTRON13 Unknown significance rs191517410 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722 390486 chr16:75662317:C>T KARS NM_005548:c.1695+150G>A INTRON13 Unknown significance rs528801591 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390487 chr16:75662342:C>G KARS NM_005548:c.1695+125G>C INTRON13 Unknown significance rs551437513 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390488 chr16:75662360:C>G KARS NM_005548:c.1695+107G>C INTRON13 Unknown significance rs565287310 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390489 chr16:75662362:A>G KARS NM_005548:c.1695+105T>C INTRON13 Unknown significance rs530896888 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390490 chr16:75662416:A>G KARS NM_005548:c.1695+51T>C INTRON13 Unknown significance rs751953303 This variant is a VUS because it does not have enough information. 0 10192 0 0 11526 0 0 8652 0 0 6576 0 1 66666 0.0000150002 0 902 0 0 16500 0 1 121014 0.00000826351 390491 chr16:75662422:T>C KARS NM_005548:c.1695+45A>G INTRON13 Unknown significance rs751764695 This variant is a VUS because it does not have enough information. 0 10196 0 0 11532 0 0 8652 0 0 6588 0 0 66688 0 0 902 0 1 16502 0.0000605987 1 121060 0.00000826037 390492 chr16:75662427:C>G KARS NM_005548:c.1695+40G>C INTRON13 Unknown significance rs757287180 This variant is a VUS because it does not have enough information. 0 10196 0 1 11532 0.0000867152 0 8650 0 0 6582 0 0 66684 0 0 902 0 0 16504 0 1 121050 0.00000826105 390493 chr16:75662427:C>T KARS NM_005548:c.1695+40G>A INTRON13 Unknown significance rs757287180 This variant is a VUS because it does not have enough information. 2 10196 0.000196155 0 11532 0 0 8650 0 0 6582 0 0 66684 0 0 902 0 0 16504 0 2 121050 0.0000165221 390494 chr16:75662430:C>T KARS NM_005548:c.1695+37G>A INTRON13 Unknown significance rs551141922 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 10196 0 0 11538 0 0 8652 0 0 6588 0 0 66686 0 0 902 0 24 16502 0.00145437 24 121064 0.000198242 390495 chr16:75662434:AGGA>- KARS NM_005548:c.1695+33_1695+38delTCCT INTRON13 Unknown significance rs745828246 This variant is a VUS because it does not have enough information. 390496 chr16:75662435:G>A KARS NM_005548:c.1695+32C>T INTRON13 Unknown significance rs756654729 This variant is a VUS because it does not have enough information. 0 10206 0 0 11540 0 0 8654 0 0 6590 0 0 66690 0 0 902 0 1 16504 0.0000605914 1 121086 0.00000825859 390497 chr16:75662436:G>A KARS NM_005548:c.1695+31C>T INTRON13 Unknown significance rs780517583 This variant is a VUS because it does not have enough information. 0 10202 0 0 11538 0 1 8654 0.000115554 1 6590 0.000151745 0 66694 0 0 902 0 2 16504 0.000121183 4 121084 0.0000330349 390498 chr16:75662442:T>C KARS NM_005548:c.1695+25A>G INTRON13 Unknown significance This variant is a VUS because it does not have enough information. 0 10242 0 0 11548 0 0 8654 0 0 6588 0 1 66704 0.0000149916 0 902 0 0 16504 0 1 121142 0.00000825478 390499 chr16:75662443:GC>- KARS NM_005548:c.1695+24_1695+27delGC INTRON13 Unknown significance rs758359458 This variant is a VUS because it does not have enough information. 0 10242 0 0 11548 0 0 8654 0 0 6588 0 1 66704 0.0000149916 0 902 0 0 16504 0 1 121142 0.00000825478 390500 chr16:75662451:G>A KARS NM_005548:c.1695+16C>T INTRON13 Unknown significance rs749677486 This variant is a VUS because it does not have enough information. 1 10306 0.0000970309 0 11554 0 0 8654 0 0 6592 0 0 66706 0 0 902 0 0 16506 0 1 121220 0.00000824946 390501 chr16:75662459:C>T KARS NM_005548:c.1695+8G>A INTRON13 Unknown significance rs755297356 This variant is a VUS because it does not have enough information. 0 10368 0 0 11558 0 0 8654 0 5 6596 0.000758035 0 66704 0 0 906 0 0 16506 0 5 121292 0.0000412228 390502 chr16:75662462:C>T KARS NM_005548:c.1695+5G>A INTRON13 Unknown significance rs778438390 This variant is a VUS because it does not have enough information. 0 10374 0 0 11560 0 0 8654 0 0 6594 0 0 66706 0 0 906 0 6 16506 0.000363504 6 121300 0.0000494641 390503 chr16:75662463:G>A KARS NM_005548:c.1695+4C>T INTRON13 Unknown significance rs747781002 This variant is a VUS because it does not have enough information. 0 10382 0 0 11560 0 3 8654 0.000346661 0 6598 0 0 66704 0 0 906 0 0 16506 0 3 121310 0.00002473 390504 chr16:75662466:C>A KARS NM_005548:c.1695+1G>T INTRON13 Unknown significance rs771615020 This variant is a VUS because it does not have enough information. 0.935 N 1 D 6.16 C 0 10380 0 0 11564 0 0 8654 0 0 6598 0 0 66702 0 0 906 0 1 16506 0.000060584 1 121310 0.00000824334 390505 chr16:75662468:T>C KARS NM_005548:p.Lys565Arg NM_005548:c.1694A>G EXON13 Unknown significance rs772849634 This variant is a VUS because it does not have enough information. 1.061 C 0.26;0.232 T 0.206;1.0 B;D 0 D 1 D;D;D 6.16 C 0 10380 0 0 11562 0 0 8654 0 0 6598 0 1 66706 0.0000149912 0 906 0 0 16506 0 1 121312 0.00000824321 390506 chr16:75662474:T>A KARS NM_005548:p.Asn563Ile NM_005548:c.1688A>T EXON13 Unknown significance rs746483110 This variant is a VUS because it does not have enough information. 1.061 C 0.001 D 0.992;1.0 D 0 D 1 D;D;D 5.06 C 0 10390 0 0 11560 0 0 8654 0 0 6602 0 2 66698 0.0000299859 0 906 0 0 16506 0 2 121316 0.0000164859 390507 chr16:75662475:T>G KARS NM_005548:p.Asn563His NM_005548:c.1687A>C EXON13 Unknown significance rs141501602 This variant is a VUS because it does not have enough information. 1.061 C 0.034;0.0 D 0.853;1.0 P;D 0 D 1 D;D;D 6.16 C 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10390 0 1 11560 0.0000865052 0 8654 0 0 6602 0 4 66708 0.0000599628 0 906 0 0 16506 0 5 121326 0.0000412113 390508 chr16:75662477:T>C KARS NM_005548:p.Asn562Ser NM_005548:c.1685A>G EXON13 Unknown significance rs776658394 This variant is a VUS because it does not have enough information. 1.061 C 0.146;0.134 T 0.0;0.056 B 0 D 1 D;D;D 6.16 C 0 10390 0 0 11560 0 1 8654 0.000115554 0 6602 0 0 66700 0 0 906 0 0 16508 0 1 121320 0.00000824266 390509 chr16:75662480:G>C KARS NM_005548:p.Ser561Cys NM_005548:c.1682C>G EXON13 Unknown significance rs759432090 This variant is a VUS because it does not have enough information. 1.048 C 0.054;0.032 T;D 0.953;0.97 P;D 0 D 1 D;D;D 6.16 C 0 10394 0 0 11560 0 1 8654 0.000115554 0 6602 0 0 66698 0 0 906 0 0 16508 0 1 121322 0.00000824253 390510 chr16:75662485:C>A KARS NM_005548:p.Thr559Thr NM_005548:c.1677G>T EXON13 Unknown significance rs765014185 This variant is a VUS because it does not have enough information. 0 10396 0 0 11562 0 0 8654 0 0 6602 0 1 66702 0.0000149921 0 906 0 0 16510 0 1 121332 0.00000824185 390511 chr16:75662486:G>A KARS NM_005548:p.Thr559Met NM_005548:c.1676C>T EXON13 Pathogenic 23596069 rs774447299 Pathogenicity is based on the literature provided in PubMed. 1.048 C 0.0 D 1.0 D 0 D 1 D;D;D 6.16 C 0 10398 0 3 11564 0.000259426 0 8654 0 0 6602 0 3 66710 0.0000449708 0 906 0 0 16510 0 6 121344 0.0000494462 390512 chr16:75662488:G>A KARS NM_005548:p.Leu558Leu NM_005548:c.1674C>T EXON13 Benign rs143267922 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 6 8600 0.000697674 27 4396 0.00614195 33 12996 0.00253924 7 1322 0.0053 1 1006 0.001 3 694 0.0043 0 1008 0 0 978 0 11 5008 0.00219649 79 10396 0.00759908 18 11568 0.00155602 0 8654 0 0 6602 0 55 66708 0.000824489 1 906 0.00110375 0 16510 0 153 121344 0.00126088 390513 chr16:75662490:G>A KARS NM_005548:p.Leu558Phe NM_005548:c.1672C>T EXON13 Unknown significance rs201176171 This variant is a VUS because it does not have enough information. 1.048 C 0.014;0.019 D 0.807;0.96 P;D 0 D 1 D;D;D 5.21 C 390514 chr16:75662497:G>- KARS NM_005548:c.1665delC EXON13 Unknown significance rs780045874 This variant is a VUS because it does not have enough information. 0 10398 0 0 11570 0 0 8654 0 0 6604 0 1 66714 0.0000149894 0 906 0 0 16512 0 1 121358 0.00000824008 390515 chr16:75662499:C>T KARS NM_005548:p.Ala555Thr NM_005548:c.1663G>A EXON13 Likely benign rs571409000 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.125 N 1.0 T 0.0 B 0.00038 N 0.55189 D;D;D 3.95 C 0 10400 0 0 11570 0 0 8654 0 0 6604 0 4 66712 0.0000599592 0 906 0 0 16510 0 4 121356 0.0000329609 390516 chr16:75662500:G>A KARS NM_005548:p.Val554Val NM_005548:c.1662C>T EXON13 Unknown significance rs750566432 This variant is a VUS because it does not have enough information. 0 10400 0 0 11568 0 0 8652 0 0 6604 0 2 66714 0.0000299787 0 906 0 1 16510 0.0000605694 3 121354 0.0000247211 390517 chr16:75662514:C>A KARS NM_005548:p.Gly550Cys NM_005548:c.1648G>T EXON13 Unknown significance rs374972641 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 1.0 D 0 D 1 D;D;D 6.16 C 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 10400 0.0000961538 0 11566 0 0 8652 0 0 6608 0 0 66718 0 0 906 0 0 16508 0 1 121358 0.00000824008 390518 chr16:75662515:C>A KARS NM_005548:p.Met549Ile NM_005548:c.1647G>T EXON13 Unknown significance rs368988143 This variant is a VUS because it does not have enough information. 0.935 N 0.183;0.13 T 0.005;0.183 B 0 D 1 D;D;D 6.16 C 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 10400 0.0000961538 0 11566 0 0 8652 0 0 6608 0 0 66716 0 0 906 0 0 16512 0 1 121360 0.00000823995 390519 chr16:75662527:A>C KARS NM_005548:p.Ala545Ala NM_005548:c.1635T>G EXON13 Unknown significance rs754279970 This variant is a VUS because it does not have enough information. 0 10398 0 1 11568 0.0000864454 0 8654 0 0 6612 0 0 66716 0 0 904 0 0 16510 0 1 121362 0.00000823981 390520 chr16:75662529:C>T KARS NM_005548:p.Ala545Thr NM_005548:c.1633G>A EXON13 Unknown significance rs755352453 This variant is a VUS because it does not have enough information. 0.852 N 0.001 D 0.24;1.0 B;D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11570 0 0 8652 0 0 6612 0 0 66720 0 0 906 0 1 16510 0.0000605694 1 121370 0.00000823927 390521 chr16:75662533:G>T KARS NM_005548:p.Pro543Pro NM_005548:c.1629C>A EXON13 Unknown significance rs139719193 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10392 0 0 11568 0 0 8650 0 0 6610 0 1 66668 0.0000149997 0 906 0 0 16506 0 1 121300 0.00000824402 390522 chr16:75662538:G>A KARS NM_005548:p.Pro542Ser NM_005548:c.1624C>T EXON13 Unknown significance rs748461134 This variant is a VUS because it does not have enough information. 0.953 C 0.001 D 1.0 D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11566 0 0 8650 0 0 6612 0 1 66722 0.0000149876 0 906 0 0 16510 0 1 121366 0.00000823954 390523 chr16:75662540:A>G KARS NM_005548:p.Leu541Pro NM_005548:c.1622T>C EXON13 Unknown significance rs758106723 This variant is a VUS because it does not have enough information. 1.088 C 0.014;0.016 D 0.966;0.983 D 0 D 1 D;D;D 5.98 C 0 10400 0 0 11570 0 0 8650 0 0 6612 0 0 66726 0 0 906 0 1 16510 0.0000605694 1 121374 0.000008239 390524 chr16:75662551:C>G KARS NM_005548:p.Leu537Leu NM_005548:c.1611G>C EXON13 Unknown significance rs777264865 This variant is a VUS because it does not have enough information. 0 10400 0 1 11572 0.0000864155 0 8652 0 0 6610 0 0 66732 0 0 906 0 0 16510 0 1 121382 0.00000823845 390525 chr16:75662566:G>A KARS NM_005548:p.Asn532Asn NM_005548:c.1596C>T EXON13 Unknown significance rs746538193 This variant is a VUS because it does not have enough information. 0 10400 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66726 0 0 906 0 0 16510 0 1 121382 0.00000823845 390526 chr16:75662588:TCA>- KARS NM_005548:c.1574_1578delTGA EXON13 Unknown significance rs746792084 This variant is a VUS because it does not have enough information. 0 10396 0 0 11572 0 0 8654 0 0 6614 0 1 66716 0.0000149889 0 906 0 0 16508 0 1 121366 0.00000823954 390527 chr16:75662589:C>T KARS NM_005548:p.Glu525Lys NM_005548:c.1573G>A EXON13 Pathogenic Visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter 25330800 rs770522582 Pathogenicity is based on the literature provided in PubMed. 0.852 N 0.0 D 1.0 D 0 D 1 D;D;D 5.76 C 0 10394 0 0 11572 0 0 8654 0 0 6614 0 1 66714 0.0000149894 0 906 0 0 16510 0 1 121364 0.00000823968 390528 chr16:75662602:A>G KARS NM_005548:p.Ala520Ala NM_005548:c.1560T>C EXON13 Unknown significance rs201512705 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10380 0 0 11572 0 5 8654 0.000577768 0 6614 0 0 66660 0 0 908 0 0 16506 0 5 121294 0.0000412222 390529 chr16:75662615:A>C KARS NM_005548:c.1552-5T>G INTRON12 Unknown significance rs745740229 This variant is a VUS because it does not have enough information. 0 10356 0 0 11570 0 0 8654 0 0 6614 0 2 66618 0.0000300219 0 908 0 0 16506 0 2 121226 0.0000164981 390530 chr16:75662616:A>C KARS NM_005548:c.1552-6T>G INTRON12 Unknown significance rs147548667 This variant is a VUS because it does not have enough information. 6 8600 0.000697674 0 4396 0 6 12996 0.000461681 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10356 0 0 11572 0 0 8654 0 0 6614 0 24 66610 0.000360306 0 908 0 8 16506 0.000484672 32 121220 0.000263983 390531 chr16:75662620:G>T KARS NM_005548:c.1552-10C>A INTRON12 Unknown significance rs370881308 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10350 0 0 11572 0 0 8654 0 0 6614 0 1 66578 0.00001502 0 908 0 0 16504 0 1 121180 0.00000825219 390532 chr16:75662626:G>C KARS NM_005548:c.1552-16C>G INTRON12 Unknown significance rs762634834 This variant is a VUS because it does not have enough information. 1 10340 0.0000967118 0 11570 0 0 8654 0 0 6614 0 0 66558 0 0 908 0 0 16504 0 1 121148 0.00000825437 390533 chr16:75662636:G>A KARS NM_005548:c.1552-26C>T INTRON12 Unknown significance rs767803941 This variant is a VUS because it does not have enough information. 0 10324 0 0 11568 0 0 8652 0 0 6612 0 0 66528 0 0 908 0 1 16502 0.0000605987 1 121094 0.00000825805 390534 chr16:75662638:G>A KARS NM_005548:c.1552-28C>T INTRON12 Unknown significance rs368550141 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10320 0 0 11564 0 0 8654 0 0 6612 0 1 66518 0.0000150335 0 908 0 0 16502 0 1 121078 0.00000825914 390535 chr16:75662639:A>G KARS NM_005548:c.1552-29T>C INTRON12 Unknown significance rs372866185 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 390536 chr16:75662644:C>T KARS NM_005548:c.1552-34G>A INTRON12 Unknown significance rs760749777 This variant is a VUS because it does not have enough information. 0 10316 0 1 11560 0.0000865052 0 8652 0 0 6612 0 0 66488 0 0 904 0 0 16500 0 1 121032 0.00000826228 390537 chr16:75662649:A>G KARS NM_005548:c.1552-39T>C INTRON12 Unknown significance rs766392079 This variant is a VUS because it does not have enough information. 0 10292 0 0 11558 0 0 8648 0 0 6612 0 0 66472 0 0 904 0 1 16498 0.0000606134 1 120984 0.00000826556 390538 chr16:75662652:A>G KARS NM_005548:c.1552-42T>C INTRON12 Unknown significance rs748357802 This variant is a VUS because it does not have enough information. 390539 chr16:75662653:T>C KARS NM_005548:c.1552-43A>G INTRON12 Unknown significance rs753904809 This variant is a VUS because it does not have enough information. 0 10278 0 0 11550 0 0 8644 0 0 6610 0 0 66430 0 0 904 0 1 16490 0.0000606428 1 120906 0.00000827089 390540 chr16:75662660:G>A KARS NM_005548:c.1552-50C>T INTRON12 Unknown significance rs755550385 This variant is a VUS because it does not have enough information. 0 10256 0 0 11542 0 0 8638 0 0 6608 0 0 66324 0 0 902 0 1 16488 0.0000606502 1 120758 0.00000828102 390541 chr16:75662660:G>C KARS NM_005548:c.1552-50C>G INTRON12 Unknown significance rs755550385 This variant is a VUS because it does not have enough information. 0 10256 0 0 11542 0 0 8638 0 0 6608 0 1 66324 0.0000150775 0 902 0 0 16488 0 1 120758 0.00000828102 390542 chr16:75662689:G>A KARS NM_005548:c.1552-79C>T INTRON12 Unknown significance rs565810216 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390543 chr16:75662695:G>A KARS NM_005548:c.1552-85C>T INTRON12 Unknown significance rs367743453 This variant is a VUS because it does not have enough information. 390544 chr16:75662720:C>G KARS NM_005548:c.1552-110G>C INTRON12 Unknown significance rs534920111 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390545 chr16:75662731:G>C KARS NM_005548:c.1552-121C>G INTRON12 Unknown significance rs183997185 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390546 chr16:75662775:G>A KARS NM_005548:c.1552-165C>T INTRON12 Unknown significance rs577610722 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390547 chr16:75662813:C>T KARS NM_005548:c.1552-203G>A INTRON12 Unknown significance rs536748840 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 390548 chr16:75662814:G>A KARS NM_005548:c.1552-204C>T INTRON12 Benign rs187360311 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 14 1322 0.0106 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 15 5008 0.00299521 390549 chr16:75662817:C>T KARS NM_005548:c.1552-207G>A INTRON12 Unknown significance rs573883389 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390550 chr16:75662830:C>- KARS NM_005548:c.1552-220delG INTRON12 Benign rs372548951 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 24 1322 0.0182 0 1006 0 0 694 0 0 1008 0 0 978 0 24 5008 0.00479233 390551 chr16:75662844:A>G KARS NM_005548:c.1552-234T>C INTRON12 Unknown significance rs533853984 This variant is a VUS because it does not have enough information. 390552 chr16:75662867:G>A KARS NM_005548:c.1552-257C>T INTRON12 Benign rs79248873 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 42 1322 0.0318 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 43 5008 0.00858626 390553 chr16:75662873:G>C KARS NM_005548:c.1552-263C>G INTRON12 Benign rs9938305 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 21 1322 0.0159 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 22 5008 0.00439297 390554 chr16:75662875:A>C KARS NM_005548:c.1552-265T>G INTRON12 Unknown significance rs145594236 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390555 chr16:75662883:C>T KARS NM_005548:c.1552-273G>A INTRON12 Benign rs41505349 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 766 1322 0.5794 121 1006 0.1203 283 694 0.4078 757 1008 0.751 478 978 0.4888 2405 5008 0.480232 390556 chr16:75662886:G>T KARS NM_005548:c.1552-276C>A INTRON12 Unknown significance rs573851246 This variant is a VUS because it does not have enough information. 390557 chr16:75662925:T>G KARS NM_005548:c.1552-315A>C INTRON12 Benign rs61588474 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 533 1322 0.4032 60 1006 0.0596 26 694 0.0375 8 1008 0.0079 62 978 0.0634 689 5008 0.13758 390558 chr16:75662928:C>T KARS NM_005548:c.1552-318G>A INTRON12 Unknown significance rs530962337 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361 390559 chr16:75662929:A>G KARS NM_005548:c.1552-319T>C INTRON12 Unknown significance rs372069313 This variant is a VUS because it does not have enough information. 390560 chr16:75662962:C>G KARS NM_005548:c.1551+351G>C INTRON12 Unknown significance rs760430798 This variant is a VUS because it does not have enough information. 390561 chr16:75662972:G>A KARS NM_005548:c.1551+341C>T INTRON12 Unknown significance rs551078553 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390562 chr16:75663011:C>A KARS NM_005548:c.1551+302G>T INTRON12 Benign rs76197636 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 69 1322 0.0522 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 71 5008 0.0141773 390563 chr16:75663050:A>C KARS NM_005548:c.1551+263T>G INTRON12 Unknown significance rs377202444 This variant is a VUS because it does not have enough information. 390564 chr16:75663052:T>C KARS NM_005548:c.1551+261A>G INTRON12 Unknown significance rs556382276 This variant is a VUS because it does not have enough information. 390565 chr16:75663094:C>T KARS NM_005548:c.1551+219G>A INTRON12 Unknown significance rs192980764 This variant is a VUS because it does not have enough information. 390566 chr16:75663095:G>A KARS NM_005548:c.1551+218C>T INTRON12 Unknown significance rs530241006 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361 390567 chr16:75663102:A>G KARS NM_005548:c.1551+211T>C INTRON12 Benign rs75584151 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 69 1322 0.0522 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 71 5008 0.0141773 390568 chr16:75663106:G>A KARS NM_005548:c.1551+207C>T INTRON12 Benign rs58508930 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 9 1322 0.0068 43 1006 0.0427 238 694 0.3429 710 1008 0.7044 342 978 0.3497 1342 5008 0.267971 390569 chr16:75663132:T>C KARS NM_005548:c.1551+181A>G INTRON12 Unknown significance rs528366722 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390570 chr16:75663137:G>C KARS NM_005548:c.1551+176C>G INTRON12 Unknown significance rs551702862 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390571 chr16:75663175:G>T KARS NM_005548:c.1551+138C>A INTRON12 Benign rs145502323 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 11 1008 0.0109 0 978 0 11 5008 0.00219649 390572 chr16:75663181:C>A KARS NM_005548:c.1551+132G>T INTRON12 Unknown significance rs763809602 This variant is a VUS because it does not have enough information. 390573 chr16:75663189:->A KARS NM_005548:c.1551+124_1551+125insT INTRON12 Benign rs56951212 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 824 1322 0.6233 120 1006 0.1193 285 694 0.4107 757 1008 0.751 477 978 0.4877 2463 5008 0.491813 390574 chr16:75663190:->C KARS NM_005548:c.1551+123_1551+124insG INTRON12 Unknown significance rs753552862 This variant is a VUS because it does not have enough information. 390575 chr16:75663223:C>T KARS NM_005548:c.1551+90G>A INTRON12 Unknown significance rs536684052 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390576 chr16:75663231:G>A KARS NM_005548:c.1551+82C>T INTRON12 Unknown significance rs556556718 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390577 chr16:75663244:C>A KARS NM_005548:c.1551+69G>T INTRON12 Unknown significance rs568253158 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361 390578 chr16:75663246:G>C KARS NM_005548:c.1551+67C>G INTRON12 Unknown significance rs772767874 This variant is a VUS because it does not have enough information. 390579 chr16:75663271:T>A KARS NM_005548:c.1551+42A>T INTRON12 Unknown significance rs763605905 This variant is a VUS because it does not have enough information. 390580 chr16:75663293:C>T KARS NM_005548:c.1551+20G>A INTRON12 Unknown significance rs753151962 This variant is a VUS because it does not have enough information. 0 10406 0 0 11578 0 0 8654 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16512 0 1 121408 0.00000823669 390581 chr16:75663295:CA>- KARS NM_005548:c.1551+18_1551+21delTG INTRON12 Unknown significance rs769981436 This variant is a VUS because it does not have enough information. 0 10404 0 0 11578 0 0 8654 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16512 0 1 121406 0.00000823683 390582 chr16:75663300:T>A KARS NM_005548:c.1551+13A>T INTRON12 Unknown significance rs376381891 This variant is a VUS because it does not have enough information. 0 8600 0 3 4396 0.000682439 3 12996 0.00023084 7 10404 0.000672818 0 11578 0 0 8652 0 0 6614 0 0 66736 0 0 908 0 0 16512 0 7 121404 0.0000576587 390583 chr16:75663301:C>T KARS NM_005548:c.1551+12G>A INTRON12 Unknown significance rs777510165 This variant is a VUS because it does not have enough information. 0 10404 0 0 11578 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16512 0.000060562 1 121402 0.0000082371 390584 chr16:75663303:C>T KARS NM_005548:c.1551+10G>A INTRON12 Unknown significance rs367722503 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10404 0 0 11578 0 0 8652 0 1 6614 0.000151194 11 66734 0.000164834 0 908 0 0 16512 0 12 121402 0.0000988452 390585 chr16:75663309:T>A KARS NM_005548:c.1551+4A>T INTRON12 Unknown significance rs535950337 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10406 0 0 11578 0 0 8652 0 0 6614 0 0 66736 0 0 908 0 1 16512 0.000060562 1 121406 0.00000823683 390586 chr16:75663324:C>A KARS NM_005548:p.Glu514Stop NM_005548:c.1540G>T EXON12 Unknown significance rs372025031 This variant is a VUS because it does not have enough information. 0.935 N 0.000015 D 1 A;A;D 5.81 C 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 390587 chr16:75663327:C>A KARS NM_005548:p.Glu513Stop NM_005548:c.1537G>T EXON12 Unknown significance rs75096057 This variant is a VUS because it does not have enough information. 0.935 N 0 D 1 A;A;D 5.81 C 390588 chr16:75663327:C>T KARS NM_005548:p.Glu513Lys NM_005548:c.1537G>A EXON12 Unknown significance rs75096057 This variant is a VUS because it does not have enough information. 0.935 N 0.077;0.071 T 0.02;0.22 B 0 D 1 D;D;D 5.81 C 390589 chr16:75663333:G>C KARS NM_005548:p.Leu511Val NM_005548:c.1531C>G EXON12 Unknown significance rs745366731 This variant is a VUS because it does not have enough information. 1.048 C 0.071;0.07 T 0.013;0.372 B 0 D 1 D;D;D 5.81 C 390590 chr16:75663338:C>T KARS NM_005548:p.Arg509Gln NM_005548:c.1526G>A EXON12 Unknown significance rs769808930 This variant is a VUS because it does not have enough information. 0.935 N 0.025;0.022 D 0.818;0.957 P;D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11578 0 0 8652 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16512 0 1 121408 0.00000823669 390591 chr16:75663339:G>A KARS NM_005548:p.Arg509Trp NM_005548:c.1525C>T EXON12 Likely pathogenic NSHL/ autosomal recessive DFNB89 10/22/2015 -- Manually curated by the MORL. 0.079 N 0.0 D 1.0 D 0 D 1 D;D;D 4.84 C 390592 chr16:75663344:C>T KARS NM_005548:p.Arg507Gln NM_005548:c.1520G>A EXON12 Unknown significance rs752076127 This variant is a VUS because it does not have enough information. 0.069 N 0.565;0.57 T 0.0;0.005 B 0.000002 D 0.999999 D;D;D 4.87 C 0 10406 0 1 11576 0.0000863856 0 8652 0 0 6614 0 2 66736 0.0000299688 0 908 0 0 16510 0 3 121402 0.0000247113 390593 chr16:75663345:G>A KARS NM_005548:p.Arg507Trp NM_005548:c.1519C>T EXON12 Unknown significance rs749139832 This variant is a VUS because it does not have enough information. 1.048 C 0.018 D 0.909;0.949 P 0.000002 D 0.999999 D;D;D 2.75 C 0 10406 0 2 11578 0.000172741 1 8652 0.00011558 0 6614 0 1 66736 0.0000149844 0 906 0 1 16510 0.0000605694 5 121402 0.0000411855 390594 chr16:75663354:C>T KARS NM_005548:p.Asp504Asn NM_005548:c.1510G>A EXON12 Unknown significance rs768271183 This variant is a VUS because it does not have enough information. 0.935 N 0.19;0.204 T 0.54;0.999 P;D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11578 0 0 8652 0 0 6614 0 0 66736 0 0 908 0 1 16510 0.0000605694 1 121404 0.00000823696 390595 chr16:75663370:C>T KARS NM_005548:p.Ala498Ala NM_005548:c.1494G>A EXON12 Unknown significance rs374568114 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 3 10406 0.000288295 0 11578 0 1 8652 0.00011558 0 6614 0 3 66738 0.0000449519 0 908 0 0 16510 0 7 121406 0.0000576578 390596 chr16:75663374:T>A KARS NM_005548:p.Asn497Ile NM_005548:c.1490A>T EXON12 Unknown significance rs760948024 This variant is a VUS because it does not have enough information. 1.061 C 0.0 D 1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 1 11576 0.0000863856 0 8652 0 0 6614 0 0 66736 0 0 908 0 0 16510 0 1 121402 0.0000082371 390597 chr16:75663374:T>C KARS NM_005548:p.Asn497Ser NM_005548:c.1490A>G EXON12 Unknown significance rs760948024 This variant is a VUS because it does not have enough information. 1.061 C 0.001 D 1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16510 0 1 121402 0.0000082371 390598 chr16:75663378:A>G KARS NM_005548:p.Cys496Arg NM_005548:c.1486T>C EXON12 Unknown significance rs776736207 This variant is a VUS because it does not have enough information. 1.199 C 0.0 D 0.998;1.0 D 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16510 0 1 121404 0.00000823696 390599 chr16:75663379:T>C KARS NM_005548:p.Ile495Met NM_005548:c.1485A>G EXON12 Unknown significance rs144274136 This variant is a VUS because it does not have enough information. 0.113 N 0.001 D 0.002;0.796 B;P 0.000644 D 0.999997 D;D;D -3.29 N 4 8600 0.000465116 1 4396 0.00022748 5 12996 0.000384734 2 10406 0.000192197 0 11576 0 0 8652 0 3 6614 0.000453583 79 66738 0.00118373 0 908 0 0 16510 0 84 121404 0.000691905 390600 chr16:75663382:C>G KARS NM_005548:p.Glu494Asp NM_005548:c.1482G>C EXON12 Unknown significance rs527539107 This variant is a VUS because it does not have enough information. -0.491 N 0.0 D 1.0;0.999 D 0 D 1 D;D;D -0.749 N 390601 chr16:75663388:C>A KARS NM_005548:p.Lys492Asn NM_005548:c.1476G>T EXON12 Unknown significance rs376962917 This variant is a VUS because it does not have enough information. 0.935 N 0.03;0.025 D 0.005;0.984 B;D 0 D 1 D;D;D 2.84 C 1 10406 0.0000960984 0 11576 0 0 8652 0 0 6614 0 0 66738 0 0 908 0 0 16510 0 1 121404 0.00000823696 390602 chr16:75663388:C>T KARS NM_005548:p.Lys492Lys NM_005548:c.1476G>A EXON12 Unknown significance rs376962917 This variant is a VUS because it does not have enough information. 2 8600 0.000232558 0 4396 0 2 12996 0.000153894 0 10406 0 0 11576 0 0 8652 0 0 6614 0 7 66738 0.000104888 0 908 0 0 16510 0 7 121404 0.0000576587 390603 chr16:75663392:A>G KARS NM_005548:p.Met491Thr NM_005548:c.1472T>C EXON12 Unknown significance rs763377687 This variant is a VUS because it does not have enough information. 1.199 C 0.202;0.23 T 0.012;0.787 B;P 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16510 0 1 121404 0.00000823696 390604 chr16:75663393:->T KARS NM_005548:c.1471_1472insA EXON12 Unknown significance rs773474699 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16510 0 1 121404 0.00000823696 390605 chr16:75663396:C>A KARS NM_005548:p.Val490Phe NM_005548:c.1468G>T EXON12 Unknown significance rs764493463 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.726;0.925 P 0 D 1 D;D;D 5.81 C 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66732 0 0 908 0 1 16510 0.0000605694 1 121398 0.00000823737 390606 chr16:75663397:A>C KARS NM_005548:p.Phe489Leu NM_005548:c.1467T>G EXON12 Unknown significance rs751957482 This variant is a VUS because it does not have enough information. 1.199 C 0.001 D 0.968;0.995 D 0 D 1 D;D;D -0.0169 N 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16510 0.0000605694 1 121400 0.00000823723 390607 chr16:75663400:C>A KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>T EXON12 Unknown significance rs200649943 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390608 chr16:75663400:C>G KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>C EXON12 Unknown significance rs200649943 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 0 66734 0 0 908 0 1 16510 0.0000605694 1 121400 0.00000823723 390609 chr16:75663400:C>T KARS NM_005548:p.Leu488Leu NM_005548:c.1464G>A EXON12 Unknown significance rs200649943 This variant is a VUS because it does not have enough information. 0 10406 0 0 11576 0 0 8652 0 0 6614 0 1 66734 0.0000149849 0 908 0 0 16510 0 1 121400 0.00000823723 390610 chr16:75663416:G>C KARS NM_005548:p.Thr483Ser NM_005548:c.1448C>G EXON12 Unknown significance rs200645820 This variant is a VUS because it does not have enough information. 1.048 C 0.1;0.112 T 0.046;0.879 B;P 0 D 1 D;D;D 5.81 C 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 1 10392 0.0000962279 0 11576 0 0 8650 0 0 6614 0 10 66720 0.00014988 1 908 0.00110132 0 16510 0 12 121370 0.0000988712 390611 chr16:75663422:C>- KARS NM_005548:c.1442delG EXON12 Unknown significance rs749416890 This variant is a VUS because it does not have enough information. 1 10388 0.0000962649 0 11574 0 0 8650 0 0 6614 0 0 66712 0 0 908 0 0 16510 0 1 121356 0.00000824022 390612 chr16:75663426:C>G KARS NM_005548:p.Glu480Gln NM_005548:c.1438G>C EXON12 Unknown significance rs376538590 This variant is a VUS because it does not have enough information. 0.059 N 0.046;0.037 D 0.001 B 0.016306 N 0.956569 D;N;N 1.07 C 0 8600 0 2 4396 0.000454959 2 12996 0.000153894 6 10390 0.000577478 0 11570 0 0 8648 0 0 6614 0 0 66698 0 0 908 0 0 16510 0 6 121338 0.0000494486 390613 chr16:75663429:T>C KARS NM_005548:p.Lys479Glu NM_005548:c.1435A>G EXON12 Unknown significance rs780046389 This variant is a VUS because it does not have enough information. 1.061 C 0.424;0.501 T 0.0 B 0.000405 D 0.761809 D;N;N 5.81 C 390614 chr16:75663430:->AG KARS NM_005548:c.1434_1435insCT EXON12 Unknown significance rs771005768 This variant is a VUS because it does not have enough information. 390615 chr16:75663430:A>G KARS NM_005548:p.Ser478Ser NM_005548:c.1434T>C EXON12 Unknown significance rs148422506 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10384 0 0 11570 0 0 8646 0 0 6614 0 1 66690 0.0000149948 0 908 0 0 16508 0 1 121320 0.00000824266 390616 chr16:75663431:G>A KARS NM_005548:p.Ser478Phe NM_005548:c.1433C>T EXON12 Unknown significance rs768628296 This variant is a VUS because it does not have enough information. 0.138 N 0.001 D 0.087;0.359 B 0.000634 D 1 D;D;D 4.85 C 0 10384 0 0 11570 0 0 8646 0 0 6614 0 1 66680 0.000014997 0 908 0 0 16508 0 1 121310 0.00000824334 390617 chr16:75663434:C>T KARS NM_005548:p.Arg477His NM_005548:c.1430G>A EXON12 Unknown significance rs778748895 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 0.997;1.0 D 0 D 1 D;D;D 5.81 C 0 10374 0 0 11570 0 0 8646 0 0 6612 0 1 66678 0.0000149975 0 908 0 0 16506 0 1 121294 0.00000824443 390618 chr16:75663435:G>A KARS NM_005548:p.Arg477Cys NM_005548:c.1429C>T EXON12 Unknown significance rs747912168 This variant is a VUS because it does not have enough information. 1.048 C 0.0 D 0.565;0.904 P 0 D 1 D;D;D 5.81 C 0 10370 0 1 11570 0.0000864304 0 8646 0 0 6612 0 0 66676 0 0 908 0 0 16508 0 1 121290 0.0000082447 390619 chr16:75663439:C>A KARS NM_005548:p.Arg475Ser NM_005548:c.1425G>T EXON12 Unknown significance rs771195611 This variant is a VUS because it does not have enough information. 0.935 N 0.02;0.018 D 0.996;1.0 D 0 D 1 D;D;D 5.81 C 390620 chr16:75663442:A>G KARS NM_005548:c.1425-3T>C INTRON11 Unknown significance rs776781414 This variant is a VUS because it does not have enough information. 0 10354 0 0 11564 0 0 8632 0 0 6612 0 0 66654 0 1 908 0.00110132 0 16504 0 1 121228 0.00000824892 390621 chr16:75663443:G>C KARS NM_005548:c.1425-4C>G INTRON11 Unknown significance rs369753718 This variant is a VUS because it does not have enough information. 0 8600 0 2 4396 0.000454959 2 12996 0.000153894 2 10354 0.000193162 0 11564 0 0 8634 0 0 6612 0 0 66650 0 0 908 0 0 16504 0 2 121226 0.0000164981 390622 chr16:75663444:G>A KARS NM_005548:c.1425-5C>T INTRON11 Unknown significance rs769694206 This variant is a VUS because it does not have enough information. 0 10354 0 0 11564 0 0 8634 0 0 6612 0 0 66648 0 1 908 0.00110132 0 16504 0 1 121224 0.00000824919 390623 chr16:75663449:G>A KARS NM_005548:c.1425-10C>T INTRON11 Unknown significance rs767861629 This variant is a VUS because it does not have enough information. 0 10336 0 0 11562 0 0 8626 0 0 6610 0 3 66622 0.0000450302 0 906 0 0 16500 0 3 121162 0.0000247602 390624 chr16:75663452:G>A KARS NM_005548:c.1425-13C>T INTRON11 Unknown significance rs202115505 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10336 0 0 11562 0 0 8616 0 1 6610 0.000151286 4 66608 0.0000600528 0 904 0 0 16500 0 5 121136 0.0000412759 390625 chr16:75663460:A>T KARS NM_005548:c.1425-21T>A INTRON11 Unknown significance rs376806083 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 390626 chr16:75663461:G>A KARS NM_005548:c.1425-22C>T INTRON11 Unknown significance rs764691719 This variant is a VUS because it does not have enough information. 0 10294 0 0 11562 0 1 8610 0.000116144 0 6608 0 0 66576 0 0 904 0 0 16500 0 1 121054 0.00000826078 390627 chr16:75663462:G>A KARS NM_005548:c.1425-23C>T INTRON11 Unknown significance rs752011614 This variant is a VUS because it does not have enough information. 0 10278 0 0 11562 0 0 8610 0 0 6608 0 0 66570 0 0 904 0 1 16500 0.0000606061 1 121032 0.00000826228 390628 chr16:75663463:A>C KARS NM_005548:c.1425-24T>G INTRON11 Unknown significance rs762245486 This variant is a VUS because it does not have enough information. 1 10272 0.000097352 0 11562 0 0 8608 0 0 6608 0 0 66566 0 0 904 0 0 16500 0 1 121020 0.0000082631 390629 chr16:75663464:G>A KARS NM_005548:c.1425-25C>T INTRON11 Unknown significance rs767310925 This variant is a VUS because it does not have enough information. 0 10258 0 0 11562 0 0 8610 0 0 6608 0 0 66566 0 0 904 0 2 16500 0.000121212 2 121008 0.0000165278 390630 chr16:75663465:G>A KARS NM_005548:c.1425-26C>T INTRON11 Unknown significance rs749977799 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 0 66556 0 0 904 0 1 16500 0.0000606061 1 120986 0.00000826542 390631 chr16:75663465:G>T KARS NM_005548:c.1425-26C>A INTRON11 Unknown significance rs749977799 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 0 66556 0 0 904 0 2 16500 0.000121212 2 120986 0.0000165308 390632 chr16:75663466:C>G KARS NM_005548:c.1425-27G>C INTRON11 Unknown significance rs765865252 This variant is a VUS because it does not have enough information. 0 10248 0 0 11562 0 0 8608 0 0 6608 0 1 66558 0.0000150245 0 904 0 0 16500 0 1 120988 0.00000826528 390633 chr16:75663468:G>A KARS NM_005548:c.1425-29C>T INTRON11 Unknown significance rs376606066 This variant is a VUS because it does not have enough information. 0 10236 0 0 11558 0 2 8606 0.000232396 0 6606 0 0 66540 0 1 904 0.00110619 0 16500 0 3 120950 0.0000248036 390634 chr16:75663470:A>G KARS NM_005548:c.1425-31T>C INTRON11 Unknown significance rs185621048 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10230 0 25 11558 0.002163 0 8602 0 0 6606 0 0 66550 0 0 904 0 0 16500 0 25 120950 0.000206697 390635 chr16:75663472:A>G KARS NM_005548:c.1425-33T>C INTRON11 Unknown significance rs535440639 This variant is a VUS because it does not have enough information. 390636 chr16:75663477:G>A KARS NM_005548:c.1425-38C>T INTRON11 Unknown significance rs200364315 This variant is a VUS because it does not have enough information. 0 10098 0 1 11548 0.0000865951 0 8590 0 0 6602 0 0 66464 0 0 904 0 0 16484 0 1 120690 0.00000828569 390637 chr16:75663479:C>A KARS NM_005548:c.1425-40G>T INTRON11 Unknown significance rs747955760 This variant is a VUS because it does not have enough information. 0 10098 0 0 11548 0 0 8584 0 0 6602 0 1 66452 0.0000150485 0 904 0 0 16484 0 1 120672 0.00000828693 390638 chr16:75663479:C>T KARS NM_005548:c.1425-40G>A INTRON11 Unknown significance rs747955760 This variant is a VUS because it does not have enough information. 0 10098 0 0 11548 0 0 8584 0 0 6602 0 1 66452 0.0000150485 0 904 0 6 16484 0.000363989 7 120672 0.0000580085 390639 chr16:75663484:->A KARS NM_005548:c.1425-45_1425-44insT INTRON11 Unknown significance rs756898275 This variant is a VUS because it does not have enough information. 0 9936 0 6 11540 0.000519931 0 8570 0 0 6596 0 19 66344 0.000286386 0 902 0 0 16478 0 25 120366 0.0002077 390640 chr16:75663484:A>G KARS NM_005548:c.1425-45T>C INTRON11 Unknown significance rs781394222 This variant is a VUS because it does not have enough information. 0 9890 0 0 11520 0 0 8562 0 0 6592 0 1 66244 0.0000150957 0 902 0 0 16472 0 1 120182 0.00000832071 390641 chr16:75663485:A>G KARS NM_005548:c.1425-46T>C INTRON11 Unknown significance rs746016731 This variant is a VUS because it does not have enough information. 0 9892 0 0 11532 0 0 8562 0 0 6592 0 1 66290 0.0000150852 0 902 0 0 16472 0 1 120242 0.00000831656 390642 chr16:75663491:T>C KARS NM_005548:c.1425-52A>G INTRON11 Unknown significance rs770041980 This variant is a VUS because it does not have enough information. 0 9844 0 0 11520 0 0 8544 0 0 6590 0 0 66182 0 0 902 0 1 16472 0.0000607091 1 120054 0.00000832959 390643 chr16:75663507:->T KARS NM_005548:c.1425-68_1425-67insA INTRON11 Unknown significance rs528716918 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 1 694 0.0014 1 1008 0.001 0 978 0 3 5008 0.000599042 390644 chr16:75663514:T>C KARS NM_005548:c.1425-75A>G INTRON11 Unknown significance rs756351295 This variant is a VUS because it does not have enough information. 390645 chr16:75663520:C>T KARS NM_005548:c.1425-81G>A INTRON11 Benign rs559236017 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 6 5008 0.00119808 390646 chr16:75663521:G>A KARS NM_005548:c.1425-82C>T INTRON11 Unknown significance rs79612807 This variant is a VUS because it does not have enough information. 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722 390647 chr16:75663522:G>C KARS NM_005548:c.1425-83C>G INTRON11 Unknown significance rs190496099 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390648 chr16:75663524:G>C KARS NM_005548:c.1425-85C>G INTRON11 Benign rs193272354 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 9 1322 0.0068 0 1006 0 0 694 0 0 1008 0 0 978 0 9 5008 0.00179712 390649 chr16:75663528:C>T KARS NM_005548:c.1425-89G>A INTRON11 Unknown significance rs11639581 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390650 chr16:75663530:C>A KARS NM_005548:c.1425-91G>T INTRON11 Unknown significance rs11639582 This variant is a VUS because it does not have enough information. 390651 chr16:75663538:C>A KARS NM_005548:c.1425-99G>T INTRON11 Unknown significance rs777771119 This variant is a VUS because it does not have enough information. 390652 chr16:75663539:G>C KARS NM_005548:c.1425-100C>G INTRON11 Unknown significance rs11649491 This variant is a VUS because it does not have enough information. 390653 chr16:75663544:C>T KARS NM_005548:c.1425-105G>A INTRON11 Unknown significance rs111883921 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 390654 chr16:75663553:A>C KARS NM_005548:c.1425-114T>G INTRON11 Unknown significance rs749346189 This variant is a VUS because it does not have enough information. 390655 chr16:75663557:G>C KARS NM_005548:c.1425-118C>G INTRON11 Unknown significance rs11649494 This variant is a VUS because it does not have enough information. 390656 chr16:75663599:G>A KARS NM_005548:c.1425-160C>T INTRON11 Unknown significance rs559283116 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390657 chr16:75663629:G>A KARS NM_005548:c.1425-190C>T INTRON11 Unknown significance rs528318978 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390658 chr16:75663642:C>A KARS NM_005548:c.1425-203G>T INTRON11 Unknown significance rs551372141 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390659 chr16:75663672:T>A KARS NM_005548:c.1425-233A>T INTRON11 Unknown significance rs571486574 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390660 chr16:75663675:T>C KARS NM_005548:c.1425-236A>G INTRON11 Unknown significance rs758371017 This variant is a VUS because it does not have enough information. 390661 chr16:75663684:C>A KARS NM_005548:c.1425-245G>T INTRON11 Unknown significance rs779997900 This variant is a VUS because it does not have enough information. 390662 chr16:75663692:C>T KARS NM_005548:c.1425-253G>A INTRON11 Unknown significance rs530715390 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390663 chr16:75663696:A>G KARS NM_005548:c.1425-257T>C INTRON11 Unknown significance rs550118904 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 2 1008 0.002 0 978 0 3 5008 0.000599042 390664 chr16:75663699:T>C KARS NM_005548:c.1425-260A>G INTRON11 Unknown significance rs566961893 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390665 chr16:75663710:G>A KARS NM_005548:c.1425-271C>T INTRON11 Unknown significance rs202242920 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390666 chr16:75663715:A>C KARS NM_005548:c.1425-276T>G INTRON11 Unknown significance rs369148654 This variant is a VUS because it does not have enough information. 390667 chr16:75663811:A>G KARS NM_005548:c.1425-372T>C INTRON11 Unknown significance rs746899280 This variant is a VUS because it does not have enough information. 390668 chr16:75663815:G>A KARS NM_005548:c.1425-376C>T INTRON11 Unknown significance rs553059480 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390669 chr16:75663818:A>G KARS NM_005548:c.1425-379T>C INTRON11 Unknown significance rs566936407 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390670 chr16:75663820:A>G KARS NM_005548:c.1425-381T>C INTRON11 Unknown significance rs142572866 This variant is a VUS because it does not have enough information. 0 1322 0 2 1006 0.002 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042 390671 chr16:75663823:G>A KARS NM_005548:c.1425-384C>T INTRON11 Unknown significance rs150918335 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361 390672 chr16:75663831:G>T KARS NM_005548:c.1425-392C>A INTRON11 Unknown significance rs75260215 This variant is a VUS because it does not have enough information. 390673 chr16:75663835:G>A KARS NM_005548:c.1425-396C>T INTRON11 Unknown significance rs373381941 This variant is a VUS because it does not have enough information. 390674 chr16:75663858:G>T KARS NM_005548:c.1425-419C>A INTRON11 Unknown significance rs575962939 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390675 chr16:75663864:C>T KARS NM_005548:c.1425-425G>A INTRON11 Unknown significance rs544931568 This variant is a VUS because it does not have enough information. 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 390676 chr16:75663877:C>T KARS NM_005548:c.1425-438G>A INTRON11 Unknown significance rs776481568 This variant is a VUS because it does not have enough information. 390677 chr16:75663910:C>A KARS NM_005548:c.1424+411G>T INTRON11 Unknown significance rs188314760 This variant is a VUS because it does not have enough information. 390678 chr16:75663950:G>A KARS NM_005548:c.1424+371C>T INTRON11 Benign rs78798046 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 117 1322 0.0885 17 1006 0.0169 16 694 0.0231 39 1008 0.0387 73 978 0.0746 262 5008 0.0523163 390679 chr16:75663967:G>C KARS NM_005548:c.1424+354C>G INTRON11 Unknown significance rs140846147 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390680 chr16:75663978:G>T KARS NM_005548:c.1424+343C>A INTRON11 Unknown significance rs577743345 This variant is a VUS because it does not have enough information. 390681 chr16:75664023:T>C KARS NM_005548:c.1424+298A>G INTRON11 Unknown significance rs540352227 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390682 chr16:75664028:T>C KARS NM_005548:c.1424+293A>G INTRON11 Unknown significance rs560673558 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722 390683 chr16:75664068:G>C KARS NM_005548:c.1424+253C>G INTRON11 Benign rs35903075 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 5 1322 0.0038 65 1006 0.0646 37 694 0.0533 0 1008 0 13 978 0.0133 120 5008 0.0239617 390684 chr16:75664075:A>G KARS NM_005548:c.1424+246T>C INTRON11 Benign rs144870709 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 31 1322 0.0234 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 32 5008 0.00638978 390685 chr16:75664115:G>A KARS NM_005548:c.1424+206C>T INTRON11 Unknown significance rs181082151 This variant is a VUS because it does not have enough information. 390686 chr16:75664117:A>G KARS NM_005548:c.1424+204T>C INTRON11 Unknown significance rs772886092 This variant is a VUS because it does not have enough information. 390687 chr16:75664128:T>C KARS NM_005548:c.1424+193A>G INTRON11 Unknown significance rs564939188 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390688 chr16:75664141:C>T KARS NM_005548:c.1424+180G>A INTRON11 Unknown significance rs530704230 This variant is a VUS because it does not have enough information. 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390689 chr16:75664161:C>T KARS NM_005548:c.1424+160G>A INTRON11 Unknown significance rs550505818 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361 390690 chr16:75664167:C>A KARS NM_005548:c.1424+154G>T INTRON11 Unknown significance rs560523542 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390691 chr16:75664178:G>A KARS NM_005548:c.1424+143C>T INTRON11 Unknown significance rs372609656 This variant is a VUS because it does not have enough information. 390692 chr16:75664189:G>T KARS NM_005548:c.1424+132C>A INTRON11 Benign rs529675239 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 5 1008 0.005 0 978 0 5 5008 0.000998403 390693 chr16:75664198:G>A KARS NM_005548:c.1424+123C>T INTRON11 Unknown significance rs546293088 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390694 chr16:75664211:A>C KARS NM_005548:c.1424+110T>G INTRON11 Unknown significance rs762580138 This variant is a VUS because it does not have enough information. 390695 chr16:75664217:C>T KARS NM_005548:c.1424+104G>A INTRON11 Unknown significance rs765935263 This variant is a VUS because it does not have enough information. 390696 chr16:75664230:C>T KARS NM_005548:c.1424+91G>A INTRON11 Unknown significance rs560330541 This variant is a VUS because it does not have enough information. 390697 chr16:75664272:C>T KARS NM_005548:c.1424+49G>A INTRON11 Benign rs115912670 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 8600 0 54 4396 0.0122839 54 12996 0.00415512 23 1322 0.0174 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 24 5008 0.00479233 114 9346 0.0121977 2 10470 0.000191022 0 7196 0 0 6106 0 10 58678 0.000170422 2 842 0.0023753 0 14766 0 128 107404 0.00119176 390698 chr16:75664273:C>T KARS NM_005548:c.1424+48G>A INTRON11 Unknown significance rs146765953 This variant is a VUS because it does not have enough information. 390699 chr16:75664274:A>C KARS NM_005548:c.1424+47T>G INTRON11 Unknown significance rs749356793 This variant is a VUS because it does not have enough information. 390700 chr16:75664287:G>A KARS NM_005548:c.1424+34C>T INTRON11 Unknown significance rs199644963 This variant is a VUS because it does not have enough information. 0 8600 0 11 4396 0.00250227 11 12996 0.000846414 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403 25 9466 0.00264103 2 10598 0.000188715 0 7360 0 0 6188 0 0 59536 0 0 846 0 0 14924 0 27 108918 0.000247893 390701 chr16:75664291:T>C KARS NM_005548:c.1424+30A>G INTRON11 Unknown significance rs371492804 This variant is a VUS because it does not have enough information. 0 9516 0 0 10708 0 0 7486 0 0 6230 0 1 60092 0.0000166412 0 846 0 0 15006 0 1 109884 0.00000910051 390702 chr16:75664291:T>G KARS NM_005548:c.1424+30A>C INTRON11 Unknown significance rs371492804 This variant is a VUS because it does not have enough information. 390703 chr16:75664293:A>T KARS NM_005548:c.1424+28T>A INTRON11 Unknown significance rs762274079 This variant is a VUS because it does not have enough information. 0 9560 0 0 10790 0 0 7570 0 0 6240 0 2 60500 0.0000330579 0 850 0 0 15096 0 2 110606 0.0000180822 390704 chr16:75664295:G>A KARS NM_005548:c.1424+26C>T INTRON11 Unknown significance rs767936983 This variant is a VUS because it does not have enough information. 0 9608 0 3 10804 0.000277675 0 7648 0 0 6262 0 1 60676 0.000016481 0 850 0 0 15118 0 4 110966 0.0000360471 390705 chr16:75664296:C>T KARS NM_005548:c.1424+25G>A INTRON11 Unknown significance rs773615583 This variant is a VUS because it does not have enough information. 0 9624 0 1 10836 0.000092285 0 7694 0 0 6254 0 0 60816 0 0 854 0 0 15126 0 1 111204 0.00000899248 390706 chr16:75664302:T>C KARS NM_005548:c.1424+19A>G INTRON11 Unknown significance rs376724925 This variant is a VUS because it does not have enough information. 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 9824 0.000101792 1 11054 0.000090465 0 8020 0 0 6316 0 1 62210 0.0000160746 0 862 0 0 15458 0 3 113744 0.000026375 390707 chr16:75664304:G>C KARS NM_005548:c.1424+17C>G INTRON11 Unknown significance rs766027288 This variant is a VUS because it does not have enough information. 0 9866 0 0 11098 0 0 8070 0 0 6336 0 0 62468 0 0 862 0 1 15498 0.0000645245 1 114198 0.00000875672 390708 chr16:75664312:G>A KARS NM_005548:c.1424+9C>T INTRON11 Unknown significance rs753341722 This variant is a VUS because it does not have enough information. 0 10052 0 0 11258 0 0 8374 0 0 6428 0 1 63754 0.0000156853 0 878 0 0 15794 0 1 116538 0.00000858089 390709 chr16:75664315:T>C KARS NM_005548:c.1424+6A>G INTRON11 Unknown significance rs754439515 This variant is a VUS because it does not have enough information. 2 10122 0.000197589 0 11324 0 0 8426 0 0 6456 0 0 64168 0 0 878 0 0 15896 0 2 117270 0.0000170547 390710 chr16:75664315:T>G KARS NM_005548:c.1424+6A>C INTRON11 Unknown significance rs754439515 This variant is a VUS because it does not have enough information. 0 10122 0 0 11324 0 0 8426 0 0 6456 0 0 64168 0 0 878 0 1 15896 0.0000629089 1 117270 0.00000852733 390711 chr16:75664323:T>C KARS NM_005548:p.Lys474Lys NM_005548:c.1422A>G EXON11 Unknown significance rs752560027 This variant is a VUS because it does not have enough information. 0 10242 0 0 11434 0 1 8546 0.000117014 0 6520 0 0 65080 0 0 892 0 0 16154 0 1 118868 0.00000841269 390712 chr16:75664325:T>A KARS NM_005548:p.Lys474Stop NM_005548:c.1420A>T EXON11 Unknown significance rs758199406 This variant is a VUS because it does not have enough information. 1.061 C 0 D 1 A;A;D 5.76 C 0 10256 0 0 11448 0 1 8558 0.00011685 0 6530 0 0 65276 0 0 894 0 0 16194 0 1 119156 0.00000839236 390713 chr16:75664344:C>T KARS NM_005548:p.Gln467Gln NM_005548:c.1401G>A EXON11 Unknown significance rs777484823 This variant is a VUS because it does not have enough information. 0 10346 0 0 11544 0 0 8624 0 0 6590 0 1 66222 0.0000151007 0 900 0 0 16430 0 1 120656 0.00000828803 390714 chr16:75664348:G>T KARS NM_005548:p.Pro466Gln NM_005548:c.1397C>A EXON11 Unknown significance rs7186504 This variant is a VUS because it does not have enough information. 1.048 C 0.0 D 1.0 D 0 D 1 D;D;D 5.76 C 390715 chr16:75664355:C>G KARS NM_005548:p.Asp464His NM_005548:c.1390G>C EXON11 Unknown significance rs746812889 This variant is a VUS because it does not have enough information. 0.935 N 0.028 D 0.981;1.0 D 0 D 1 D;D;D 5.76 C 1 10366 0.0000964692 0 11552 0 0 8634 0 0 6594 0 0 66390 0 0 900 0 0 16474 0 1 120910 0.00000827061 390716 chr16:75664358:A>C KARS NM_005548:p.Cys463Gly NM_005548:c.1387T>G EXON11 Unknown significance rs185867137 This variant is a VUS because it does not have enough information. 1.199 C 0.009;0.007 D 0.748;0.971 P;D 0 D 1 D;D;D 5.76 C 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10366 0.0000964692 0 11554 0 0 8640 0 0 6594 0 0 66438 0 0 900 0 0 16478 0 1 120970 0.00000826651 390717 chr16:75664365:T>C KARS NM_005548:p.Thr460Thr NM_005548:c.1380A>G EXON11 Unknown significance rs780300461 This variant is a VUS because it does not have enough information. 0 10374 0 0 11558 0 0 8646 0 0 6600 0 3 66496 0.0000451155 0 900 0 1 16478 0.000060687 4 121052 0.0000330437 390718 chr16:75664366:G>A KARS NM_005548:p.Thr460Ile NM_005548:c.1379C>T EXON11 Unknown significance rs749349318 This variant is a VUS because it does not have enough information. 1.048 C 0.005;0.006 D 0.974;0.996 D 0 D 1 D;D;D 5.91 C 0 10374 0 0 11558 0 0 8646 0 0 6600 0 1 66502 0.0000150371 0 900 0 0 16478 0 1 121058 0.0000082605 390719 chr16:75664372:T>C KARS NM_005548:p.Asn458Ser NM_005548:c.1373A>G EXON11 Likely benign rs140328951 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. -0.209 N 0.147;0.16 T 0.0;0.002 B 0.000001 N 0.999951 D;D;D 4.81 C 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10376 0 0 11560 0 1 8646 0.00011566 0 6602 0 2 66526 0.0000300634 0 904 0 0 16482 0 3 121096 0.0000247737 390720 chr16:75664377:G>A KARS NM_005548:p.Cys456Cys NM_005548:c.1368C>T EXON11 Unknown significance rs376044061 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10376 0 0 11560 0 0 8646 0 0 6606 0 6 66538 0.000090174 0 904 0 2 16484 0.00012133 8 121114 0.0000660535 390721 chr16:75664378:C>T KARS NM_005548:p.Cys456Tyr NM_005548:c.1367G>A EXON11 Unknown significance rs748723559 This variant is a VUS because it does not have enough information. 0.935 N 0.034;0.039 D 0.407;0.99 B;D 0 D 1 D;D;D 5.91 C 0 10374 0 0 11560 0 1 8646 0.00011566 0 6606 0 0 66552 0 0 904 0 0 16482 0 1 121124 0.000008256 390722 chr16:75664379:A>C KARS NM_005548:p.Cys456Gly NM_005548:c.1366T>G EXON11 Unknown significance rs772704062 This variant is a VUS because it does not have enough information. 1.199 C 0.009;0.01 D 0.774;0.851 P 0 D 1 D;D;D 5.91 C 0 10374 0 0 11562 0 1 8648 0.000115634 0 6608 0 0 66558 0 0 904 0 0 16482 0 1 121136 0.00000825518 390723 chr16:75664389:C>T KARS NM_005548:p.Leu452Leu NM_005548:c.1356G>A EXON11 Unknown significance rs201426187 This variant is a VUS because it does not have enough information. 0 10372 0 0 11562 0 0 8646 0 0 6610 0 1 66564 0.0000150231 0 904 0 0 16488 0 1 121146 0.0000082545 390724 chr16:75664392:G>A KARS NM_005548:p.Phe451Phe NM_005548:c.1353C>T EXON11 Unknown significance rs199560527 This variant is a VUS because it does not have enough information. 390725 chr16:75664395:C>G KARS NM_005548:p.Glu450Asp NM_005548:c.1350G>C EXON11 Unknown significance rs200574045 This variant is a VUS because it does not have enough information. -0.366 N 0.108 T 0.0;0.001 B 0.000001 D 0.999995 D;D;D 2.87 C 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10368 0 0 11560 0 0 8648 0 0 6608 0 1 66554 0.0000150254 0 902 0 0 16488 0 1 121128 0.00000825573 390726 chr16:75664399:C>G KARS NM_005548:p.Gly449Ala NM_005548:c.1346G>C EXON11 Unknown significance rs765973399 This variant is a VUS because it does not have enough information. 0.935 N 0.018;0.023 D 0.891;1.0 P;D 0 D 1 D;D;D 5.91 C 0 10364 0 0 11560 0 0 8648 0 0 6606 0 1 66526 0.0000150317 0 900 0 0 16482 0 1 121086 0.00000825859 390727 chr16:75664400:C>A KARS NM_005548:p.Gly449Trp NM_005548:c.1345G>T EXON11 Unknown significance rs776302260 This variant is a VUS because it does not have enough information. 0.935 N 0.0 D 1.0 D 0 D 1 D;D;D 5.91 C 0 10368 0 0 11560 0 0 8648 0 0 6606 0 2 66536 0.0000300589 0 900 0 0 16484 0 2 121102 0.000016515 390728 chr16:75664403:C>G KARS NM_005548:p.Val448Leu NM_005548:c.1342G>C EXON11 Unknown significance rs759047321 This variant is a VUS because it does not have enough information. 0.935 N 0.002 D 0.027;0.698 B;P 0 D 1 D;D;D 5.91 C 0 10368 0 1 11562 0.0000864902 0 8642 0 0 6606 0 0 66530 0 0 900 0 0 16482 0 1 121090 0.00000825832 390729 chr16:75664409:T>C KARS NM_005548:c.1339-3A>G INTRON10 Unknown significance rs764666612 This variant is a VUS because it does not have enough information. 0 10364 0 0 11560 0 0 8640 0 0 6606 0 1 66498 0.000015038 0 900 0 0 16474 0 1 121042 0.0000082616 390730 chr16:75664413:G>A KARS NM_005548:c.1339-7C>T INTRON10 Unknown significance rs752187875 This variant is a VUS because it does not have enough information. 0 10358 0 0 11558 0 0 8636 0 0 6606 0 0 66482 0 0 898 0 1 16472 0.0000607091 1 121010 0.00000826378 390731 chr16:75664416:->A KARS NM_005548:c.1339-10_1339-9insT INTRON10 Unknown significance rs767977536 This variant is a VUS because it does not have enough information. 0 10356 0 0 11556 0 0 8636 0 0 6606 0 0 66470 0 0 900 0 1 16470 0.0000607165 1 120994 0.00000826487 390732 chr16:75664416:AAAGC>- KARS NM_005548:c.1339-10_1339-4delGCTTT INTRON10 Unknown significance rs760083282 This variant is a VUS because it does not have enough information. 1 10356 0.0000965624 0 11556 0 0 8636 0 0 6606 0 2 66470 0.0000300888 0 900 0 0 16470 0 3 120994 0.0000247946 390733 chr16:75664418:A>G KARS NM_005548:c.1339-12T>C INTRON10 Unknown significance rs762942995 This variant is a VUS because it does not have enough information. 0 10358 0 0 11550 0 3 8636 0.000347383 0 6606 0 0 66464 0 0 898 0 0 16470 0 3 120982 0.0000247971 390734 chr16:75664421:A>G KARS NM_005548:c.1339-15T>C INTRON10 Unknown significance rs371316141 This variant is a VUS because it does not have enough information. 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10358 0 0 11554 0 0 8634 0 0 6606 0 1 66458 0.0000150471 0 898 0 0 16468 0 1 120976 0.0000082661 390735 chr16:75664430:T>C KARS NM_005548:c.1339-24A>G INTRON10 Unknown significance rs751359967 This variant is a VUS because it does not have enough information. 0 10354 0 0 11548 0 0 8628 0 0 6606 0 0 66420 0 0 898 0 2 16460 0.000121507 2 120914 0.0000165407 390736 chr16:75664445:G>T KARS NM_005548:c.1339-39C>A INTRON10 Unknown significance rs757028497 This variant is a VUS because it does not have enough information. 0 10342 0 0 11540 0 0 8614 0 0 6600 0 1 66322 0.000015078 0 896 0 0 16448 0 1 120762 0.00000828075 390737 chr16:75664447:A>G KARS NM_005548:c.1339-41T>C INTRON10 Unknown significance rs760057780 This variant is a VUS because it does not have enough information. 390738 chr16:75664448:T>C KARS NM_005548:c.1339-42A>G INTRON10 Unknown significance rs780143923 This variant is a VUS because it does not have enough information. 1 10342 0.0000966931 0 11540 0 0 8610 0 0 6602 0 0 66250 0 0 898 0 1 16444 0.0000608125 2 120686 0.0000165719 390739 chr16:75664450:G>C KARS NM_005548:c.1339-44C>G INTRON10 Unknown significance rs754056628 This variant is a VUS because it does not have enough information. 0 10326 0 0 11528 0 0 8598 0 0 6600 0 0 66162 0 0 898 0 1 16430 0.0000608643 1 120542 0.00000829586 390740 chr16:75664456:G>A KARS NM_005548:c.1339-50C>T INTRON10 Unknown significance rs755239135 This variant is a VUS because it does not have enough information. 0 10312 0 0 11526 0 0 8576 0 0 6588 0 0 66060 0 0 898 0 1 16414 0.0000609236 1 120374 0.00000830744 390741 chr16:75664459:C>T KARS NM_005548:c.1339-53G>A INTRON10 Unknown significance rs538537204 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390742 chr16:75664494:C>A KARS NM_005548:c.1339-88G>T INTRON10 Unknown significance rs555332644 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390743 chr16:75664499:G>T KARS NM_005548:c.1339-93C>A INTRON10 Unknown significance rs574871634 This variant is a VUS because it does not have enough information. 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042 390744 chr16:75664524:A>C KARS NM_005548:c.1339-118T>G INTRON10 Unknown significance rs143849667 This variant is a VUS because it does not have enough information. 390745 chr16:75664525:T>- KARS NM_005548:c.1339-119delA INTRON10 Unknown significance rs745524374 This variant is a VUS because it does not have enough information. 390747 chr16:75664526:->TTA KARS NM_005548:c.1339-120_1339-119insTAA INTRON10 Unknown significance rs757908809 This variant is a VUS because it does not have enough information. 390746 chr16:75664526:TTA>- KARS NM_005548:c.1339-120_1339-116delTAA INTRON10 Benign rs145525565 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 795 1322 0.6014 122 1006 0.1213 287 694 0.4135 756 1008 0.75 474 978 0.4847 2434 5008 0.486022 390748 chr16:75664549:A>- KARS NM_005548:c.1339-143delT INTRON10 Unknown significance rs201968815 This variant is a VUS because it does not have enough information. 390749 chr16:75664564:C>T KARS NM_005548:c.1339-158G>A INTRON10 Unknown significance rs376411913 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390750 chr16:75664572:C>T KARS NM_005548:c.1339-166G>A INTRON10 Unknown significance rs767839874 This variant is a VUS because it does not have enough information. 390751 chr16:75664573:G>A KARS NM_005548:c.1339-167C>T INTRON10 Unknown significance rs376963632 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390752 chr16:75664643:G>A KARS NM_005548:c.1339-237C>T INTRON10 Unknown significance rs549417008 This variant is a VUS because it does not have enough information. 390753 chr16:75664648:T>A KARS NM_005548:c.1339-242A>T INTRON10 Benign rs116989849 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 17 1008 0.0169 2 978 0.002 19 5008 0.00379393 390754 chr16:75664648:T>C KARS NM_005548:c.1339-242A>G INTRON10 Unknown significance rs116989849 This variant is a VUS because it does not have enough information. 390755 chr16:75664666:G>C KARS NM_005548:c.1339-260C>G INTRON10 Unknown significance rs16941282 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390756 chr16:75664678:G>A KARS NM_005548:c.1339-272C>T INTRON10 Benign rs112225278 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 73 1322 0.0552 59 1006 0.0586 11 694 0.0159 8 1008 0.0079 53 978 0.0542 204 5008 0.0407348 390757 chr16:75664698:C>T KARS NM_005548:c.1339-292G>A INTRON10 Unknown significance rs575122663 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 390758 chr16:75664718:A>C KARS NM_005548:c.1339-312T>G INTRON10 Unknown significance rs544085934 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 390759 chr16:75664729:C>T KARS NM_005548:c.1339-323G>A INTRON10 Benign rs138042411 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 23 1322 0.0174 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 24 5008 0.00479233 390760 chr16:75664807:A>G KARS NM_005548:c.1338+259T>C INTRON10 Unknown significance rs529966584 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 390761 chr16:75664817:G>A KARS NM_005548:c.1338+249C>T INTRON10 Unknown significance rs373005438 This variant is a VUS because it does not have enough information. 390762 chr16:75664840:T>C KARS NM_005548:c.1338+226A>G INTRON10 Unknown significance rs764348528 This variant is a VUS because it does not have enough information. 390763 chr16:75664859:C>T KARS NM_005548:c.1338+207G>A INTRON10 Unknown significance rs754020493 This variant is a VUS because it does not have enough information. 390764 chr16:75664860:G>A KARS NM_005548:c.1338+206C>T INTRON10 Unknown significance rs548812311 This variant is a VUS because it does not have enough information. 390765 chr16:75664876:A>G KARS NM_005548:c.1338+190T>C INTRON10 Unknown significance rs757351046 This variant is a VUS because it does not have enough information. 390766 chr16:75664882:A>C KARS NM_005548:c.1338+184T>G INTRON10 Unknown significance rs546528670 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042 390767 chr16:75664891:T>G KARS NM_005548:c.1338+175A>C INTRON10 Unknown significance rs559903119 This variant is a VUS because it does not have enough information. 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 390768 chr16:75664894:G>C KARS NM_005548:c.1338+172C>G INTRON10 Unknown significance rs567010144 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 390769 chr16:75664897:C>T KARS NM_005548:c.1338+169G>A INTRON10 Benign rs16941287 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 117 1322 0.0885 17 1006 0.0169 16 694 0.0231 39 1008 0.0387 73 978 0.0746 262 5008 0.0523163 390770 chr16:75664949:G>C KARS NM_005548:c.1338+117C>G INTRON10 Benign rs537697641 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 0 1322 0 0 1006 0 0 694 0 0 1008 0 5 978 0.0051 5 5008 0.000998403 390771 chr16:75665005:G>A KARS NM_005548:c.1338+61C>T INTRON10 Benign rs7187847 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 649 1322 0.4909 77 1006 0.0765 41 694 0.0591 46 1008 0.0456 126 978 0.1288 939 5008 0.1875 390772 chr16:75665006:G>A KARS NM_005548:c.1338+60C>T INTRON10 Unknown significance rs754928857 This variant is a VUS because it does not have enough information. 390773 chr16:75665009:A>G KARS NM_005548:c.1338+57T>C INTRON10 Unknown significance rs548817586 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390774 chr16:75665010:G>A KARS NM_005548:c.1338+56C>T INTRON10 Unknown significance rs571239491 This variant is a VUS because it does not have enough information. 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 390775 chr16:75665016:A>G KARS NM_005548:c.1338+50T>C INTRON10 Unknown significance rs779203788 This variant is a VUS because it does not have enough information. 390776 chr16:75665018:C>T KARS NM_005548:c.1338+48G>A INTRON10 Unknown significance rs748210287 This variant is a VUS because it does not have enough information. 0 8042 0 0 7380 0 0 5946 0 0 4652 0 2 50396 0.0000396857 0 702 0 0 13736 0 2 90854 0.0000220133 390777 chr16:75665019:A>G KARS NM_005548:c.1338+47T>C INTRON10 Benign rs7189895 This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. 2637 8600 0.306628 2946 4396 0.670155 5583 12996 0.429594 967 1322 0.7315 324 1006 0.3221 383 694 0.5519 876 1008 0.869 509 978 0.5204 3059 5008 0.610823 5730 8288 0.691361 4554 7686 0.592506 5678 6364 0.892206 1638 4706 0.348066 16767 50958 0.329036 314 710 0.442254 6526 14004 0.46601 41207 92716 0.444443 390778 chr16:75665025:C>A KARS NM_005548:c.1338+41G>T INTRON10 Unknown significance rs369043605 This variant is a VUS because it does not have enough information. 1 8598 0.000116306 0 4396 0 1 12994 0.0000769586 0 8580 0 0 8218 0 0 6612 0 0 4860 0 1 52570 0.0000190223 0 728 0 0 14168 0 1 95736 0.0000104454 390779 chr16:75665028:C>T KARS NM_005548:c.1338+38G>A INTRON10 Unknown significance rs747369627 This variant is a VUS because it does not have enough information. 0 8580 0 0 8266 0 0 6636 0 0 4890 0 1 52868 0.000018915 0 730 0 0 14184 0 1 96154 0.0000104 390780 chr16:75665032:T>C KARS NM_005548:c.1338+34A>G INTRON10 Unknown significance rs771256082 This variant is a VUS because it does not have enough information. 0 8638 0 4 8350 0.000479042 0 6712 0 0 4942 0 0 53320 0 0 734 0 0 14270 0 4 96966 0.0000412516 390781 chr16:75665042:T>C KARS NM_005548:c.1338+24A>G INTRON10 Unknown significance rs776157629 This variant is a VUS because it does not have enough information. 0 8740 0 0 8536 0 4 6846 0.000584283 0 5028 0 0 54304 0 0 744 0 0 14400 0 4 98598 0.0000405688 390782 chr16:75665050:G>C KARS NM_005548:c.1338+16C>G INTRON10 Unknown significance rs759241436 This variant is a VUS because it does not have enough information. 0 8884 0 0 8914 0 1 7030 0.000142248 0 5158 0 0 55816 0 0 768 0 0 14600 0 1 101170 0.00000988435 390783 chr16:75665053:A>G KARS NM_005548:c.1338+13T>C INTRON10 Unknown significance rs769429317 This variant is a VUS because it does not have enough information. 0 8964 0 0 9130 0 0 7172 0 0 5232 0 0 56700 0 0 780 0 1 14662 0.0000682035 1 102640 0.00000974279 390784 chr16:75665054:GG>- KARS NM_005548:c.1338+12_1338+15delCC INTRON10 Unknown significance rs201957065 This variant is a VUS because it does not have enough information. 0 8964 0 0 9130 0 5 7172 0.000697156 0 5232 0 0 56700 0 0 780 0 0 14662 0 5 102640 0.000048714 390785 chr16:75665055:G>A KARS NM_005548:c.1338+11C>T INTRON10 Unknown significance rs775019458 This variant is a VUS because it does not have enough information. 0 9018 0 0 9252 0 0 7210 0 0 5282 0 1 57168 0.0000174923 0 782 0 0 14746 0 1 103458 0.00000966576 390786 chr16:75665056:G>A KARS NM_005548:c.1338+10C>T INTRON10 Unknown significance rs762426497 This variant is a VUS because it does not have enough information. 0 9054 0 0 9304 0 1 7254 0.000137855 0 5314 0 0 57444 0 0 790 0 0 14760 0 1 103920 0.00000962279 390787 chr16:75665057:C>G KARS NM_005548:c.1338+9G>C INTRON10 Unknown significance rs763960268 This variant is a VUS because it does not have enough information. 0 9086 0 0 9356 0 0 7278 0 0 5336 0 1 57662 0.0000173424 0 790 0 0 14804 0 1 104312 0.00000958662 390788 chr16:75665069:G>C KARS NM_005548:p.Asp445Glu NM_005548:c.1335C>G EXON10 Unknown significance rs751474072 This variant is a VUS because it does not have enough information. 0.208 N 0.007;0.008 D 0.585;0.999 P;D 0 D 1 D;D;D 2.24 C 0 9430 0 0 10124 0 0 7870 0 0 5624 0 1 60962 0.0000164037 0 822 0 0 15230 0 1 110062 0.00000908579 390789 chr16:75665092:G>A KARS NM_005548:p.Arg438Trp NM_005548:c.1312C>T EXON10 Pathogenic Visual loss, progressive microcephaly, developmental delay, seizures, and abnormal subcortical white matter 25330800 rs761527468 Pathogenicity is based on the literature provided in PubMed. 1.048 C 0.038;0.067 D;T 0.095;0.733 B;P 0 D 1 D;D;D 3.94 C 0 9844 0 1 10818 0.0000924385 0 8328 0 0 5982 0 0 63998 0 0 850 0 0 15764 0 1 115584 0.00000865172 390790 chr16:75665096:T>C KARS NM_005548:p.Pro436Pro NM_005548:c.1308A>G EXON10 Unknown significance rs767405343 This variant is a VUS because it does not have enough information. 0 9862 0 0 10870 0 0 8370 0 0 6012 0 1 64226 0.00001557 0 852 0 0 15806 0 1 115998 0.00000862084 390791 chr16:75665098:G>A KARS NM_005548:p.Pro436Ser NM_005548:c.1306C>T EXON10 Unknown significance rs750240137 This variant is a VUS because it does not have enough information. 1.048 C 0.021 D 0.01;0.009 B 0.000061 D 0.999954 D;D;D 2.62 C 0 9894 0 0 10904 0 0 8378 0 0 6042 0 0 64386 0 0 860 0 1 15830 0.0000631712 1 116294 0.0000085989 390792 chr16:75665100:G>C KARS NM_005548:p.Pro435Arg NM_005548:c.1304C>G EXON10 Unknown significance rs755292539 This variant is a VUS because it does not have enough information. 1.048 C 0.003;0.001 D 0.457;0.986 P;D 0 D 1 D;D;D 5.91 C 0 9904 0 0 10932 0 0 8404 0 0 6056 0 2 64452 0.0000310308 0 862 0 0 15858 0 2 116468 0.0000171721 390793 chr16:75665102:G>A KARS NM_005548:p.Cys434Cys NM_005548:c.1302C>T EXON10 Unknown significance rs779257362 This variant is a VUS because it does not have enough information. 0 9910 0 0 10950 0 0 8418 0 0 6072 0 1 64538 0.0000154947 0 862 0 0 15882 0 1 116632 0.00000857398 390794 chr16:75665106:T>C KARS NM_005548:p.Glu433Gly NM_005548:c.1298A>G EXON10 Unknown significance rs146588850 This variant is a VUS because it does not have enough information. 1.061 C 0.002;0.001 D 0.203;0.997 B;D 0 D 1 D;D;D 5.91 C 0 8600 0 1 4396 0.00022748 1 12996 0.0000769468 1 9970 0.000100301 0 11002 0 0 8442 0 0 6094 0 0 64698 0 0 866 0 0 15924 0 1 116996 0.0000085473 390795 chr16:75665110:C>T KARS NM_005548:p.Val432Ile NM_005548:c.1294G>A EXON10 Likely benign rs367724914 Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic. 0.065 N 0.321;0.287 T 0.0;0.001 B 0.0002 N 1 D;D;D 1.87 C 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 390796 chr16:75665117:T>G KARS NM_005548:p.Ala429Ala NM_005548:c.1287A>C EXON10 Unknown significance rs758468945 This variant is a VUS because it does not have enough information. 0 9992 0 1 11046 0.0000905305 0 8448 0 0 6144 0 0 64854 0 0 868 0 0 15994 0 1 117346 0.00000852181 390797 chr16:75665118:G>A KARS NM_005548:p.Ala429Val NM_005548:c.1286C>T EXON10 Unknown significance rs778142378 This variant is a VUS because it does not have enough information. 1.048 C 0.03;0.027 D 0.0 B 0.010165 N 0.705707 D;D;N 3.84 C 0 9998 0 0 11046 0 0 8450 0 0 6152 0 0 64862 0 0 866 0 1 16000 0.0000625 1 117374 0.00000851977 390798 chr16:75665120:CA>- KARS NM_005548:c.1284_1287delTG EXON10 Unknown significance rs761083503 This variant is a VUS because it does not have enough information. 0 9990 0 0 11038 0 0 8444 0 0 6150 0 1 64832 0.0000154245 0 866 0 0 15988 0 1 117308 0.00000852457 390799 chr16:75665126:G>C KARS NM_005548:p.Ile426Met NM_005548:c.1278C>G EXON10 Unknown significance rs371668969 This variant is a VUS because it does not have enough information. 0.154 N 0.025;0.028 D 0.018;0.275 B 0.000003 D 0.999809 D;D;D 4.95 C 1 8600 0.000116279 0 4396 0 1 12996 0.0000769468 0 10010 0 0 11070 0 0 8428 0 0 6188 0 1 64880 0.0000154131 0 880 0 0 16040 0 1 117496 0.00000851093 390800 chr16:75665127:A>C KARS NM_005548:p.Ile426Ser NM_005548:c.1277T>G EXON10 Unknown significance rs771325159 This variant is a VUS because it does not have enough information. 1.199 C 0.004 D 0.235;0.644 B;P 0.000003 D 0.999999 D;D;D 5.91 C 0 10014 0 0 11074 0 1 8422 0.000118737 0 6190 0 0 64926 0 0 880 0 0 16048 0 1 117554 0.00000850673 390802 chr16:75665129:A>G KARS NM_005548:p.Asp425Asp NM_005548:c.1275T>C EXON10 Unknown significance rs779241883 This variant is a VUS because it does not have enough information. 0 10008 0 0 11052 0 0 8410 0 2 6186 0.000323311 20 64884 0.000308242 0 878 0 0 16048 0 22 117466 0.000187288 390801 chr16:75665129:ATC>- KARS NM_005548:c.1275_1279delGAT EXON10 Unknown significance rs764308156 This variant is a VUS because it does not have enough information. 390803 chr16:75665133:T>C KARS NM_005548:p.Asp424Gly NM_005548:c.1271A>G EXON10 Unknown significance rs746198033 This variant is a VUS because it does not have enough information. 1.061 C 0.258;0.254 T 0.518;0.963 P;D 0 D 1 D;D;D 5.91 C 0 10004 0 0 11040 0 0 8384 0 0 6190 0 1 64878 0.0000154135 0 876 0 0 16050 0 1 117422 0.00000851629 390804 chr16:75665134:C>G KARS NM_005548:p.Asp424His NM_005548:c.1270G>C EXON10 Unknown significance rs769484182 This variant is a VUS because it does not have enough information. 0.935 N 0.082;0.081 T 0.5;0.999 P;D 0 D 1 D;D;D 5.91 C 390805 chr16:75665134:C>T KARS NM_005548:p.Asp424Asn NM_005548:c.1270G>A EXON10 Unknown significance rs769484182 This variant is a VUS because it does not have enough information. 0.935 N 0.34;0.335 T 0.012;0.105 B 0 D 1 D;D;D 5.91 C 390806 chr16:75665139:A>G KARS NM_005548:p.Ile422Thr NM_005548:c.1265T>C EXON10 Unknown significance rs762481405 This variant is a VUS because it does not have enough information. 1.199 C 0.014;0.011 D 0.002;0.029 B 0.000003 D 0.987462 D;D;D 5.91 C 0 10002 0 0 11028 0 1 8356 0.000119674 0 6208 0 0 64820 0 0 874 0 0 16048 0 1 117336 0.00000852253 390807 chr16:75665140:T>G KARS NM_005548:p.Ile422Leu NM_005548:c.1264A>C EXON10 Unknown significance rs768155959 This variant is a VUS because it does not have enough information. 1.061 C 0.172;0.115 T 0.0 B 0.000003 N 0.750051 D;D;D 4.79 C 0 10000 0 0 11016 0 0 8330 0 0 6206 0 1 64726 0.0000154497 0 874 0 0 16046 0 1 117198 0.00000853257 390808 chr16:75665142:T>C KARS NM_005548:p.Lys421Arg NM_005548:c.1262A>G EXON10 Unknown significance rs554125088 This variant is a VUS because it does not have enough information. 1.061 C 0.097;0.104 T 0.0;0.013 B 0.000001 N 0.999936 D;D;D 2.47 C 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 10002 0 0 11016 0 0 8332 0 0 6208 0 1 64734 0.0000154478 0 874 0 0 16048 0 1 117214 0.0000085314 390809 chr16:75665145:C>T KARS NM_005548:p.Arg420His NM_005548:c.1259G>A EXON10 Unknown significance rs201574004 This variant is a VUS because it does not have enough information. 0.935 N 0.306;0.222 T 0.111;0.357 B 0 D 1 D;D;D 5.91 C 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9972 0 0 10956 0 1 8304 0.000120424 0 6196 0 3 64494 0.000046516 0 872 0 1 16024 0.0000624064 5 116818 0.0000428016 390810 chr16:75665146:G>A KARS NM_005548:p.Arg420Cys NM_005548:c.1258C>T EXON10 Unknown significance rs77573084 This variant is a VUS because it does not have enough information. 1.048 C 0.118;0.091 T 0.421;1.0 B;D 0 D 1 D;D;D 5.91 C 26 8600 0.00302326 4 4396 0.000909918 30 12996 0.0023084 0 1322 0 3 1006 0.003 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042 5 9984 0.000500801 1 10970 0.0000911577 0 8296 0 1 6204 0.000161186 155 64564 0.00240072 0 870 0 0 16048 0 162 116936 0.00138537 390811 chr16:75665148:G>A KARS NM_005548:p.Thr419Ile NM_005548:c.1256C>T EXON10 Unknown significance rs773192982 This variant is a VUS because it does not have enough information. 1.048 C 0.028;0.03 D 0.048;0.679 B;P 0 D 1 D;D;D 5.91 C 3 9986 0.000300421 0 10978 0 0 8294 0 0 6212 0 0 64612 0 0 874 0 0 16056 0 3 117012 0.0000256384 390812 chr16:75665154:G>A KARS NM_005548:c.1253-3C>T INTRON9 Unknown significance rs374965622 This variant is a VUS because it does not have enough information. 0 8600 0 4 4396 0.000909918 4 12996 0.000307787 5 9968 0.000501605 0 10956 0 0 8268 0 0 6196 0 0 64428 0 0 874 0 0 16046 0 5 116736 0.0000428317 390813 chr16:75665155:G>C KARS NM_005548:c.1253-4C>G INTRON9 Unknown significance rs765591392 This variant is a VUS because it does not have enough information.