##fileformat=VCFv4.1
##INFO=<ID=INDEX,Number=1,Type=Integer,Description="NISC Variant Index">
##INFO=<ID=FILTERSTEP,Number=1,Type=Integer,Description="Step Variant Filtered">
##INFO=<ID=NOTES,Number=0,Type=String,Description="Variant Notes">
#CHROM POS ID REF ALT QUAL FILTER INFO
1 156051837 . G GAG . . INDEX=106087;FILTERSTEP=2;NOTES=
1 156084467 . A T . . INDEX=106089;FILTERSTEP=2;NOTES=
1 156084622 . G T . . INDEX=106090;FILTERSTEP=2;NOTES=
1 156084760 . C T . . INDEX=106092;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156096387 . G A . . INDEX=106093;FILTERSTEP=2;NOTES=
1 156096417 . T G . . INDEX=106094;FILTERSTEP=2;NOTES=
1 156099630 . C G . . INDEX=106096;FILTERSTEP=2;NOTES=
1 156099669 . T G . . INDEX=106097;FILTERSTEP=2;NOTES=
1 156100237 . G GG . . INDEX=106100;FILTERSTEP=2;NOTES=
1 156100408 . C T . . INDEX=106101;FILTERSTEP=3;NOTES=Listed as a VUS in LOVD LSDB. Do not report.
1 156100739 . T C . . INDEX=106102;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156103997 . A C . . INDEX=106104;FILTERSTEP=2;NOTES=
1 156104083 . C T . . INDEX=106105;FILTERSTEP=2;NOTES=
1 156104292 . G A . . INDEX=106106;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156104375 . G T . . INDEX=106107;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156104392 . C T . . INDEX=106108;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156104779 . G T . . INDEX=106109;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156104827 . C T . . INDEX=106110;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156104965 . T A . . INDEX=106111;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156105028 . T C . . INDEX=106112;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156105609 . G T . . INDEX=106115;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156105646 . A G . . INDEX=106116;FILTERSTEP=3;NOTES=Listed in UMD LSDB. Original report does not segregate with disease (sporadic case of lone atrial fibrillation: http://www.sciencedirect.com/science/article/pii/S0002914909004743) and there is no functional work on the variant. Do not report.
1 156105928 . G A . . INDEX=106117;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156105961 . C T . . INDEX=106118;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156105962 . A G . . INDEX=106119;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156106185 . T C . . INDEX=106120;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156106369 . G A . . INDEX=106121;FILTERSTEP=2;NOTES=
1 156106587 . G A . . INDEX=106122;FILTERSTEP=2;NOTES=
1 156106863 . C T . . INDEX=106123;FILTERSTEP=3;NOTES=Listed as VUS in LOVD LSDB. Do not report.
1 156106883 . G A . . INDEX=106124;FILTERSTEP=2;NOTES=
1 156107166 . A G . . INDEX=106125;FILTERSTEP=2;NOTES=
1 156107175 . A G . . INDEX=106126;FILTERSTEP=2;NOTES=
1 156107337 . G A . . INDEX=106127;FILTERSTEP=2;NOTES=
1 156107470 . G A . . INDEX=106129;FILTERSTEP=2;NOTES=
1 156107534 . C T . . INDEX=106130;FILTERSTEP=3;NOTES=Listed as a VUS in LOVD LSDB. Do not report.
1 156108341 . G A . . INDEX=106131;FILTERSTEP=2;NOTES=
1 156108431 . C T . . INDEX=106132;FILTERSTEP=2;NOTES=
1 156108510 . C T . . INDEX=106133;FILTERSTEP=4;NOTES=This variant has been identified a number of times in subjects with a wide variety of diseases, including unaffecteds (http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32331/full). The variant has a 0.8% prevalence in Danish newborn screening. Although the paper cited (http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.32331/full) argues in favor of notification, the lack of segregation with disease and wide range of phenotypes argues against reporting this variant. There is no experimental evidence supporting pathogenicity. The LOVD LSDB classifies the variant as probable pathogenic, not definite pathogenic. Do not report.
1 156108511 . G A . . INDEX=106134;FILTERSTEP=4;NOTES=Has been identified once, with no functional support or segregation with disease. LOVD LSDB gives this variant a probable pathogenic; is not classified in the LSDB as definite pathogenic. Do not report.
1 156108574 . A G . . INDEX=106135;FILTERSTEP=2;NOTES=
1 156108610 . G T . . INDEX=106136;FILTERSTEP=2;NOTES=
1 156108628 . G T . . INDEX=106137;FILTERSTEP=2;NOTES=
1 156108976 . G C . . INDEX=106139;FILTERSTEP=2;NOTES=
1 156109107 . AA A . . INDEX=106140;FILTERSTEP=2;NOTES=
1 156109107 . AA A . . INDEX=106141;FILTERSTEP=2;NOTES=
1 156109108 . A AA . . INDEX=106140;FILTERSTEP=2;NOTES=
1 156109108 . A AA . . INDEX=106141;FILTERSTEP=2;NOTES=
1 156109226 . GG G . . INDEX=106142;FILTERSTEP=2;NOTES=
1 156109262 . C T . . INDEX=106143;FILTERSTEP=2;NOTES=
1 156109290 . T C . . INDEX=106144;FILTERSTEP=2;NOTES=
1 156109346 . C T . . INDEX=106145;FILTERSTEP=2;NOTES=
1 156109394 . GAG G . . INDEX=106146;FILTERSTEP=2;NOTES=
1 156109394 . GAG G . . INDEX=106147;FILTERSTEP=2;NOTES=
1 156109396 . G GAG . . INDEX=106146;FILTERSTEP=2;NOTES=
1 156109396 . G GAG . . INDEX=106147;FILTERSTEP=2;NOTES=
1 156109536 . G A . . INDEX=106148;FILTERSTEP=2;NOTES=
1 156109696 . G C . . INDEX=106149;FILTERSTEP=2;NOTES=
1 156109919 . C T . . INDEX=106150;FILTERSTEP=2;NOTES=
1 156109943 . C T . . INDEX=106151;FILTERSTEP=2;NOTES=
1 161284077 . GAG G . . INDEX=113502;FILTERSTEP=2;NOTES=
1 161284079 . G A . . INDEX=113503;FILTERSTEP=2;NOTES=
1 161284158 . G A . . INDEX=113504;FILTERSTEP=2;NOTES=
1 161284164 . T C . . INDEX=113505;FILTERSTEP=2;NOTES=
1 161284227 . G GTG . . INDEX=113506;FILTERSTEP=2;NOTES=
1 161284270 . G C . . INDEX=113507;FILTERSTEP=2;NOTES=
1 161284297 . T C . . INDEX=113508;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 161293308 . C T . . INDEX=113511;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 161293486 . T TAT . . INDEX=113512;FILTERSTEP=2;NOTES=
1 161293492 . A T . . INDEX=113513;FILTERSTEP=2;NOTES=
1 161293496 . T A . . INDEX=113514;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 161293508 . C T . . INDEX=113515;FILTERSTEP=2;NOTES=
1 161298167 . C T . . INDEX=113519;FILTERSTEP=2;NOTES=
1 161310519 . C T . . INDEX=113520;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 161326313 . A G . . INDEX=113522;FILTERSTEP=2;NOTES=
1 161326331 . G T . . INDEX=113523;FILTERSTEP=2;NOTES=
1 161332104 . TT T . . INDEX=113528;FILTERSTEP=2;NOTES=
1 161332346 . C G . . INDEX=113529;FILTERSTEP=2;NOTES=
1 17345113 . G C . . INDEX=25058;FILTERSTEP=2;NOTES=
1 17345630 . T TT . . INDEX=25059;FILTERSTEP=2;NOTES=
1 17349074 . C T . . INDEX=25061;FILTERSTEP=2;NOTES=
1 17350243 . T C . . INDEX=25065;FILTERSTEP=2;NOTES=
1 17350451 . A G . . INDEX=25066;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 17350496 . T C . . INDEX=25067;FILTERSTEP=2;NOTES=
1 17350634 . A T . . INDEX=25068;FILTERSTEP=2;NOTES=
1 17354297 . A G . . INDEX=25071;FILTERSTEP=4;NOTES=Listed as polymorphism in LSDB (http://chromium.liacs.nl/LOVD2/SDH/variants.php?select_db=SDHB&action=search_all&search_Variant%2FDNA=c.487T%3EC), not as a definite pathogenic variant. Do not report.
1 17354391 . AGAAGAA A . . INDEX=25072;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354391 . AGAAGAA A . . INDEX=25073;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354391 . AGAAGAA A . . INDEX=25074;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAAGAA . . INDEX=25072;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAAGAA . . INDEX=25073;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAAGAA . . INDEX=25074;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAA . . INDEX=25072;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAA . . INDEX=25073;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17354397 . A AGAA . . INDEX=25074;FILTERSTEP=3;NOTES=Not in LSDB. Do not report.
1 17355012 . G T . . INDEX=25077;FILTERSTEP=2;NOTES=
1 17355075 . A T . . INDEX=25078;FILTERSTEP=4;NOTES=This variant was originally identified in 2 subjects with pheochromocytomas, and was predicted to create a splice-site acceptor (http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2265.2008.03274.x/full). There was no experimental evidence to support pathogenicity or segregation data. ACMG recommendations classify purported splice site acceptor activations as a class of variant which may or may not cause disease (http://www.nature.com/gim/journal/v10/n4/full/gim200844a.html class 3). Do not report.
1 17355218 . A G . . INDEX=25079;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 17355387 . T C . . INDEX=25080;FILTERSTEP=2;NOTES=
1 17359386 . T C . . INDEX=25082;FILTERSTEP=2;NOTES=
1 17359676 . C A . . INDEX=25083;FILTERSTEP=2;NOTES=
1 17371152 . T C . . INDEX=25085;FILTERSTEP=2;NOTES=
1 17371212 . T G . . INDEX=25086;FILTERSTEP=2;NOTES=
1 17371221 . C T . . INDEX=25087;FILTERSTEP=3;NOTES=Listed as VUS in LSDB. Do not report.
1 17371223 . C T . . INDEX=25088;FILTERSTEP=3;NOTES=Listed as VUS/polymorphism in LSDB. Not classified as definite pathogenic. Do not report.
1 17371286 . T C . . INDEX=25089;FILTERSTEP=2;NOTES=
1 17371494 . C T . . INDEX=25091;FILTERSTEP=3;NOTES=Listed as VUS/polymorphism in LSDB. Not classified as definite pathogenic. Do not report.
1 17371586 . T C . . INDEX=25092;FILTERSTEP=2;NOTES=
1 17380497 . G T . . INDEX=25097;FILTERSTEP=2;NOTES=
1 17380653 . C A . . INDEX=25098;FILTERSTEP=3;NOTES=Listed as a probable non-pathogenic allele in LSDB. Do not report.
1 201008586 . G GG . . INDEX=131556;FILTERSTEP=2;NOTES=
1 201009011 . C T . . INDEX=131558;FILTERSTEP=2;NOTES=
1 201009066 . G A . . INDEX=131559;FILTERSTEP=2;NOTES=
1 201009071 . T G . . INDEX=131560;FILTERSTEP=2;NOTES=
1 201009085 . TAGCTCTGT T . . INDEX=131561;FILTERSTEP=2;NOTES=
1 201009182 . A G . . INDEX=131562;FILTERSTEP=2;NOTES=
1 201009229 . G A . . INDEX=131563;FILTERSTEP=2;NOTES=
1 201009556 . A G . . INDEX=131565;FILTERSTEP=2;NOTES=
1 201009572 . A G . . INDEX=131566;FILTERSTEP=2;NOTES=
1 201009703 . G A . . INDEX=131567;FILTERSTEP=2;NOTES=
1 201009873 . G A . . INDEX=131568;FILTERSTEP=2;NOTES=
1 201009897 . T C . . INDEX=131569;FILTERSTEP=2;NOTES=
1 201009907 . G A . . INDEX=131570;FILTERSTEP=2;NOTES=
1 201010580 . G A . . INDEX=131573;FILTERSTEP=2;NOTES=
1 201010739 . G C . . INDEX=131574;FILTERSTEP=2;NOTES=
1 201010862 . T C . . INDEX=131575;FILTERSTEP=2;NOTES=
1 201012247 . C T . . INDEX=131577;FILTERSTEP=2;NOTES=
1 201012484 . C T . . INDEX=131578;FILTERSTEP=2;NOTES=
1 201012495 . G A . . INDEX=131579;FILTERSTEP=2;NOTES=
1 201012597 . G A . . INDEX=131580;FILTERSTEP=2;NOTES=
1 201013336 . T C . . INDEX=131582;FILTERSTEP=2;NOTES=
1 201013387 . C T . . INDEX=131583;FILTERSTEP=2;NOTES=
1 201013506 . C T . . INDEX=131584;FILTERSTEP=2;NOTES=
1 201013535 . G A . . INDEX=131585;FILTERSTEP=2;NOTES=
1 201013732 . G A . . INDEX=131586;FILTERSTEP=2;NOTES=
1 201013734 . G A . . INDEX=131587;FILTERSTEP=2;NOTES=
1 201016124 . G C . . INDEX=131589;FILTERSTEP=2;NOTES=
1 201016296 . G A . . INDEX=131590;FILTERSTEP=2;NOTES=
1 201016486 . T A . . INDEX=131591;FILTERSTEP=2;NOTES=
1 201016646 . C T . . INDEX=131592;FILTERSTEP=2;NOTES=
1 201016661 . G A . . INDEX=131593;FILTERSTEP=2;NOTES=
1 201016784 . A G . . INDEX=131594;FILTERSTEP=2;NOTES=
1 201017602 . T G . . INDEX=131596;FILTERSTEP=2;NOTES=
1 201017645 . C A . . INDEX=131597;FILTERSTEP=2;NOTES=
1 201017677 . A C . . INDEX=131598;FILTERSTEP=2;NOTES=
1 201017688 . T TT . . INDEX=131599;FILTERSTEP=2;NOTES=
1 201017805 . A C . . INDEX=131600;FILTERSTEP=2;NOTES=
1 201017895 . G A . . INDEX=131601;FILTERSTEP=2;NOTES=
1 201017904 . C T . . INDEX=131602;FILTERSTEP=2;NOTES=
1 201018118 . C A . . INDEX=131604;FILTERSTEP=2;NOTES=
1 201018281 . C T . . INDEX=131605;FILTERSTEP=2;NOTES=
1 201018462 . T G . . INDEX=131606;FILTERSTEP=2;NOTES=
1 201019652 . A G . . INDEX=131609;FILTERSTEP=2;NOTES=
1 201019707 . G A . . INDEX=131610;FILTERSTEP=2;NOTES=
1 201019996 . G A . . INDEX=131611;FILTERSTEP=2;NOTES=
1 201020105 . A G . . INDEX=131612;FILTERSTEP=2;NOTES=
1 201020165 . T A . . INDEX=131613;FILTERSTEP=5;NOTES=Meets known pathogenic criteria as the variant segregates with in vitro contracture test in 7/9, with remaining 2/9 equivocal on the contracture test. A tenth carrier in the family was not biopsied. The same study also uses patch-clamp to demonstrate accelerated inward Ca2+ current and increased sensitization of RYR1 under caffeine exposure in a transfection model (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006335/#!po=31.2500). Report.
1 201020351 . G T . . INDEX=131614;FILTERSTEP=2;NOTES=
1 201020354 . T C . . INDEX=131615;FILTERSTEP=2;NOTES=
1 201020360 . G A . . INDEX=131616;FILTERSTEP=2;NOTES=
1 201021619 . C G . . INDEX=131618;FILTERSTEP=2;NOTES=
1 201021671 . C T . . INDEX=131619;FILTERSTEP=2;NOTES=
1 201021679 . G A . . INDEX=131620;FILTERSTEP=2;NOTES=
1 201021733 . C T . . INDEX=131621;FILTERSTEP=2;NOTES=
1 201021734 . G A . . INDEX=131622;FILTERSTEP=2;NOTES=
1 201022323 . C A . . INDEX=131625;FILTERSTEP=2;NOTES=
1 201022376 . G A . . INDEX=131626;FILTERSTEP=2;NOTES=
1 201022387 . C T . . INDEX=131627;FILTERSTEP=2;NOTES=
1 201022411 . C T . . INDEX=131628;FILTERSTEP=2;NOTES=
1 201022427 . T C . . INDEX=131629;FILTERSTEP=2;NOTES=
1 201022534 . A C . . INDEX=131630;FILTERSTEP=2;NOTES=
1 201022550 . C T . . INDEX=131631;FILTERSTEP=2;NOTES=
1 201022584 . C T . . INDEX=131632;FILTERSTEP=3;NOTES=Cited as definite pathogenic in LSDB on the basis of a single patient with two other known pathogenic mutations in this gene. Could not find evidence to support definite pathogenic assertion. Do not report.
1 201022779 . C T . . INDEX=131633;FILTERSTEP=2;NOTES=
1 201022780 . G A . . INDEX=131634;FILTERSTEP=2;NOTES=
1 201023436 . C T . . INDEX=131635;FILTERSTEP=2;NOTES=
1 201023683 . G A . . INDEX=131636;FILTERSTEP=2;NOTES=
1 201023721 . G A . . INDEX=131637;FILTERSTEP=2;NOTES=
1 201027320 . A G . . INDEX=131639;FILTERSTEP=2;NOTES=
1 201027393 . G A . . INDEX=131640;FILTERSTEP=2;NOTES=
1 201027662 . G A . . INDEX=131641;FILTERSTEP=2;NOTES=
1 201027685 . C A . . INDEX=131642;FILTERSTEP=2;NOTES=
1 201027692 . C T . . INDEX=131643;FILTERSTEP=2;NOTES=
1 201028268 . C A . . INDEX=131648;FILTERSTEP=2;NOTES=
1 201028299 . G A . . INDEX=131649;FILTERSTEP=2;NOTES=
1 201028466 . G A . . INDEX=131650;FILTERSTEP=2;NOTES=
1 201028501 . C T . . INDEX=131651;FILTERSTEP=2;NOTES=
1 201029651 . A G . . INDEX=131654;FILTERSTEP=2;NOTES=
1 201029719 . T C . . INDEX=131655;FILTERSTEP=2;NOTES=
1 201029735 . A ATCCTGCCCTACCCA . . INDEX=131656;FILTERSTEP=2;NOTES=
1 201029939 . T C . . INDEX=131657;FILTERSTEP=3;NOTES=Listed as definite non-pathogenic in LSDB. Do not report.
1 201029984 . C A . . INDEX=131658;FILTERSTEP=2;NOTES=
1 201030138 . G A . . INDEX=131659;FILTERSTEP=2;NOTES=
1 201030194 . G A . . INDEX=131660;FILTERSTEP=2;NOTES=
1 201030668 . G A . . INDEX=131662;FILTERSTEP=2;NOTES=
1 201030902 . T C . . INDEX=131663;FILTERSTEP=2;NOTES=
1 201030911 . G A . . INDEX=131664;FILTERSTEP=2;NOTES=
1 201030972 . C T . . INDEX=131665;FILTERSTEP=2;NOTES=
1 201030988 . C T . . INDEX=131666;FILTERSTEP=2;NOTES=
1 201031031 . G T . . INDEX=131667;FILTERSTEP=2;NOTES=
1 201031053 . G C . . INDEX=131668;FILTERSTEP=2;NOTES=
1 201031059 . A G . . INDEX=131669;FILTERSTEP=2;NOTES=
1 201031307 . A C . . INDEX=131670;FILTERSTEP=2;NOTES=
1 201031349 . G A . . INDEX=131671;FILTERSTEP=2;NOTES=
1 201031580 . C A . . INDEX=131672;FILTERSTEP=2;NOTES=
1 201031731 . G C . . INDEX=131673;FILTERSTEP=2;NOTES=
1 201034867 . G A . . INDEX=131678;FILTERSTEP=2;NOTES=
1 201035071 . G A . . INDEX=131679;FILTERSTEP=2;NOTES=
1 201035087 . G A . . INDEX=131680;FILTERSTEP=2;NOTES=
1 201035098 . A G . . INDEX=131681;FILTERSTEP=2;NOTES=