Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(313): Show GTATTATATATTATATATAATACATTATATGTTATATAACATAATGTATT ATATATTATATATTATATAATATATAATACATTATGTTATATAACATATA ATGTATTATATATTATATAATATATAATGTATTATATATTATATAATATA TAATATATAATGTATTATATATTATATAATATATAATATATAATGTATTA TATATTATATAATATATAATATATAATGTATTATATATTATATAATATAT AATATATAATGTATTATATATTATATAATATATAATATATAATACATTAT TTATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	290	0.0035	320	c.234 others(337): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATAATATATAATACATTATATGT TATATAACATAATGTATTATATATTATATAATATATAATATATAATACAT TATGTTATATAACATATAATGTATTATATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(313): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC AGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0165 a0001c0165	a0001c0165t0021 a0001c0165t0021	a0001c0165t0021g0160 a0001c0165t0021g0160	1	380	0.0026	320	c.-32 others(337): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACTGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(313): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp2 HG03195.hp1 others(6): Show HG00733.hp1 HG01109.hp2 HG03195.hp1 NA18964.hp1 NA18981.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0116 a0001c0121 others(6): Show a0001c0006 a0001c0116 a0001c0121 a0001c0164 a0001c0192 a0001c0193 a0001c0234 a0001c0298 a0001c0307	a0001c0006t0018 a0001c0116t0003 a0001c0121t0003 others(6): Show a0001c0006t0018 a0001c0116t0003 a0001c0121t0003 a0001c0164t0021 a0001c0192t0002 a0001c0193t0002 a0001c0234t0090 a0001c0298t0011 a0001c0307t0002	a0001c0006t0018g0124 a0001c0116t0003g0099 a0001c0121t0003g0344 others(6): Show a0001c0006t0018g0124 a0001c0116t0003g0099 a0001c0121t0003g0344 a0001c0164t0021g0157 a0001c0192t0002g0352 a0001c0193t0002g0353 a0001c0234t0090g0104 a0001c0298t0011g0299 a0001c0307t0002g0268	9	380	0.0237	320	c.-32 others(337): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(313): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0028 a0001c0003t0004g0028	1	396	0.0025	320	c.-49 others(331): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SHROOM1_chr5_132817141_132835647	132835058	T T	TAAGACAG others(313): Show TAAGACAGGCACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	320	c.-49 others(331): Show c.-4966_-4965insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCGTGCCTGTCTT	SHROOM1	ENSG00000164403.15	transcript	ENST00000378679.8	protein_coding		4412		chr5	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(313): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0195 a0007c0006t0005g0195	1	218	0.0046	320	c.323 others(339): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIK3_chr11_116838402_117103428	116947120	T T	TATATATA others(313): Show TATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATTT ATATATAATATATAATATATAAATTATTATTTATATATAATATATAATAT ATAAATTATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0016 a0013c0018t0001g0016	1	366	0.0027	320	c.454 others(337): Show c.454+6923_454+6924insTATATATAAATAATAATTTATATATTAT ATATTATATATAAATAATAATTTATATATTATATATTATATATAAATAAT AATTTATATATTATATATTATATATAAATAATAATTTATATATTATATAT TATATATAAATAATAATTTATATATTATATATTATATATAAATAATAATT TATATATTATATATTATATATAAATAATAATTTATATATTATATATTATA TATAAATAATAATTTATATATTATATATTATATATAAATAATAATTTATA TATTATATATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(313): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG01070.hp1 others(13): Show HG00597.hp1 HG00639.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01433.hp2 HG01978.hp1 HG02055.hp2 HG02129.hp1 HG02273.hp2 HG03491.hp2 HG03831.hp2 NA18945.hp2 NA18965.hp1 NA19068.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0006 others(5): Show a0001c0001 a0001c0002 a0002c0006 a0002c0007 a0002c0012 a0003c0013 a0004c0010 a0004c0021	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0002c0006t0004 a0002c0007t0001 a0002c0012t0001 a0003c0013t0002 a0004c0010t0001 a0004c0010t0002 a0004c0021t0001	a0001c0001t0002g0016 a0001c0001t0005g0031 a0001c0002t0001g0144 others(13): Show a0001c0001t0002g0016 a0001c0001t0005g0031 a0001c0002t0001g0144 a0001c0002t0001g0185 a0002c0006t0004g0162 a0002c0007t0001g0112 a0002c0007t0001g0129 a0002c0007t0001g0216 a0002c0012t0001g0149 a0003c0013t0002g0026 a0004c0010t0001g0121 a0004c0010t0001g0123 a0004c0010t0001g0127 a0004c0010t0001g0128 a0004c0010t0002g0030 a0004c0021t0001g0113	16	292	0.0548	320	c.309 others(339): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(313): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 NA19000.hp1 others(2): Show HG00673.hp1 HG01081.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0003c0013 a0007c0037 a0003c0004 a0003c0013 a0007c0037	a0003c0004t0001 a0003c0013t0001 a0003c0013t0002 others(1): Show a0003c0004t0001 a0003c0013t0001 a0003c0013t0002 a0007c0037t0003	a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0013t0001g0190 others(2): Show a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0013t0001g0190 a0003c0013t0002g0037 a0007c0037t0003g0256	5	292	0.0171	320	c.309 others(339): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SIRPB1_chr20_1556385_1625009	1565567	T T	TAAGAAAT others(313): Show TAAGAAATGTTTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01099.hp1 others(26): Show HG00408.hp1 HG00639.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG02027.hp1 HG02129.hp1 HG02148.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp2 HG02738.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18940.hp2 NA18966.hp2 NA18973.hp2 NA18987.hp1 NA18987.hp2 NA19009.hp2 NA19066.hp2 NA19076.hp1 NA19084.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0033 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0033 a0002c0002t0001 a0002c0002t0003 a0002c0002t0024	a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0033g0096 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0055 a0001c0001t0033g0096 a0002c0002t0001g0002 a0002c0002t0001g0028 a0002c0002t0001g0034 a0002c0002t0001g0092 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0135 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0003g0110 a0002c0002t0024g0125	29	364	0.0797	320	c.3- others(331): Show c.3-71_*3-70insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGGAAACATTTCTT	SIRPB1	ENSG00000101307.16	transcript	ENST00000381605.9	protein_coding	5/5			chr20	TogoVar
SLC12A7_chr5_1045384_1117063	1072232	C C	CCCCCAGT others(313): Show CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCTCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAG TGAACCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCTCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAACCCCCAGCAC ACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0012 a0001c0029t0007g0012	1	118	0.0085	320	c.224 others(339): Show c.2241+1400_2241+1401insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGTTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCA CTGAGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCT CACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGTTCACTGGG GCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGAGGGCTCACTG GGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A16_chr10_68472998_68532523	68524362	T T	TAAAACTT others(313): Show TAAAACTTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	312	0.0032	320	c.130 others(337): Show c.130+2883_130+2884insTGTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTT TTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGAGACGAAGTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	1/8			chr10	TogoVar
SLC39A11_chr17_72640949_73097688	72700021	A A	ATAGATCA others(313): Show ATAGATCAGGGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0075 a0003c0003t0002g0075	1	180	0.0056	320	c.671 others(339): Show c.671+36628_671+36629insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAACCCCTGATCTA	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC3A1_chr2_44270480_44326494	44283858	T T	TAGGTATA others(313): Show TAGGTATAGTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp2 others(8): Show HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 others(8): Show a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0283 a0001c0003t0004g0284 a0001c0003t0004g0290 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300	11	354	0.0311	320	c.766 others(337): Show c.766-2159_766-2158insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGTATAGTCTTCTT	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC41A2_chr12_104796801_104963290	104877396	A A	AATATATT others(313): Show AATATATTTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	386	0.0026	320	c.102 others(339): Show c.1027+8896_1027+8897insATTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAAATATAT	SLC41A2	ENSG00000136052.10	transcript	ENST00000258538.8	protein_coding	6/10			chr12	TogoVar
SLC44A3_chr1_94815357_94900246	94877129	T T	TAAAAAAA others(313): Show TAAAAAAAAGGTCGGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	360	0.0028	320	c.148 others(339): Show c.1482+9728_1482+9729insTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTCGGGG	SLC44A3	ENSG00000143036.17	transcript	ENST00000271227.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A12_chr11_26662020_26727060	26674175	G G	GAACTTAT others(313): Show GAACTTATGCAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCTCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG AAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02970.hp2 others(2): Show HG02109.hp1 HG02280.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0001c0004 a0007c0036 a0001c0003 a0001c0004 a0007c0036	a0001c0003t0049 a0001c0003t0110 a0001c0003t0111 others(2): Show a0001c0003t0049 a0001c0003t0110 a0001c0003t0111 a0001c0004t0131 a0007c0036t0130	a0001c0003t0049g0080 a0001c0003t0110g0081 a0001c0003t0111g0102 others(2): Show a0001c0003t0049g0080 a0001c0003t0110g0081 a0001c0003t0111g0102 a0001c0004t0131g0330 a0007c0036t0130g0323	5	412	0.0121	320	c.158 others(337): Show c.1580-647_1580-646insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGAGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGCATAAGTT	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	13/14			chr11	TogoVar
SLC8A2_chr19_47423017_47476893	47451314	T T	TTTTTTTT others(313): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCCGGACTGCAGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTTTTTGCATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	316	0.0032	320	c.134 others(339): Show c.1341-3084_1341-3083insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATGC AAAAAATTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCTGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SLC8A2	ENSG00000118160.14	transcript	ENST00000236877.11	protein_coding	3/9			chr19	TogoVar
SLCO1C1_chr12_20690332_20758386	20755736	T T	TAGTTCTT others(313): Show TAGTTCTTTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01358.hp1 HG02080.hp1 others(1): Show HG00673.hp2 HG01358.hp1 HG02080.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0266 others(1): Show a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0266 a0001c0005t0002g0137	4	296	0.0135	320	c.32 others(331): Show c.3208_*3209insAGTTCTTTATTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGC TAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		2351		chr12	TogoVar
SLIT3_chr5_168656740_169306139	168718163	C C	CAAAAGTG others(313): Show CAAAAGTGGAATAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp1 HG02886.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0005 a0002c0002t0005 a0001c0004t0005 a0002c0002t0005	a0001c0004t0005g0008 a0002c0002t0005g0082 a0001c0004t0005g0008 a0002c0002t0005g0082	2	132	0.0152	320	c.248 others(339): Show c.2483+4092_2483+4093insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCTCTATTCCACTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35			chr5	TogoVar
SMARCC1_chr3_47580269_47786893	47741369	T T	TAAAAATT others(313): Show TAAAAATTATTGCTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01109.hp2 others(18): Show HG00733.hp2 HG01074.hp2 HG01109.hp2 HG02071.hp2 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG03491.hp1 HG03516.hp2 HG03688.hp1 HG04184.hp1 HG04204.hp1 NA18943.hp1 NA18955.hp1 NA18969.hp2 NA18973.hp2 NA18998.hp1 NA19043.hp2 NA19082.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0009t0002 a0003c0008t0002 a0004c0006t0002	a0001c0001t0001g0130 a0001c0001t0002g0087 a0001c0001t0002g0089 others(18): Show a0001c0001t0001g0130 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0006g0109 a0001c0002t0002g0114 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0009t0002g0088 a0003c0008t0002g0086 a0004c0006t0002g0002	21	219	0.0959	320	c.402 others(337): Show c.402-3260_402-3259insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCTAGCAATAATTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCATCTCA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG02683.hp1 HG01069.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	422	0.0047	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(225): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 a0002c0002t0003g0013 a0003c0003t0001g0049 a0004c0007t0001g0053	228	422	0.5403	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAATAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAATAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02135.hp1 HG02717.hp1 others(5): Show HG00673.hp1 HG02135.hp1 HG02717.hp1 NA18956.hp2 NA19012.hp2 NA19070.hp1 NA19081.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0025 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0106 a0001c0001t0001g0118	8	422	0.0190	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCA GCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCAG ACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAAA TTAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00597.hp2 others(47): Show HG00280.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01891.hp1 HG01993.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18972.hp2 NA18980.hp2 NA18982.hp1 NA18994.hp1 NA19074.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0002g0004 a0001c0001t0002g0069 a0003c0003t0001g0044	50	422	0.1185	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGA AGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTA CTAAAAATAAAAAAATTAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129517320	T T	TAGAAAGT others(313): Show TAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTCACACCTGTATTCCCC AGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAAGTCAGGAGTTCCA GACCAGCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATAAAAAA ATAGCCAGGCATGGTGGCGTACACCTGTAATCCCAGCTACTCAGGAGGCC GAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGATGTTGCAGTGAGCCAA GATTGTGCCATTGCACTCCAGCCTGGGCGACAGGAGGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	320	c.48 others(331): Show c.4879_*4880insAGAAAGTGGGAGAGAAGGCCAGGTGCAGTGGCTC ACACCTGTATTCCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTG AAGTCAGGAGTTCCAGACCAGCCTGGCTAACATGGTGAAACCCCATCTCT ACTAAAAATAAAAAAATAGCCAGGCATGGTGGCGTACACCTGTAATCCCA GCTACTCAGGAGGCCGAGGCAGAAGAATTGCTTGTACCTGGGAGGTAGAT GTTGCAGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCGACAGGA GGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4403		chr7	TogoVar
SMYD3_chr1_245744347_246512279	246429028	T T	TGAGTCTC others(313): Show TGAGTCTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	150	0.0067	320	c.165 others(339): Show c.165-73935_165-73934insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGAGACTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SND1_chr7_127647194_128097593	127835603	T T	TAAAAGTA others(313): Show TAAAAGTAGGTATTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03486.hp1 HG02572.hp2 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0097 a0001c0004t0001g0165 a0001c0004t0001g0166	3	262	0.0115	320	c.124 others(339): Show c.1243-8706_1243-8705insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTAGGTATTGG	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATACACAGTATATAGTATATATAATATACTATATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0022 a0001c0004t0032g0022	1	289	0.0035	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATACACAGTATATAGTATATATAATATACTATATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACAGTATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02109.hp2 HG02615.hp1 others(2): Show HG01993.hp2 HG02109.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0007 a0001c0001t0053 a0002c0006t0007 a0001c0001t0007 a0001c0001t0053 a0002c0006t0007	a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 others(2): Show a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0042 a0001c0001t0053g0039 a0002c0006t0007g0040	5	289	0.0173	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACAGTATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACTATATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02258.hp2 others(23): Show HG01081.hp1 HG01891.hp2 HG02258.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 others(10): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0002t0006 a0001c0002t0008 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0050 a0002c0003t0006 a0002c0003t0010 a0002c0003t0039	a0001c0001t0014g0120 a0001c0001t0014g0121 a0001c0001t0014g0125 others(23): Show a0001c0001t0014g0120 a0001c0001t0014g0121 a0001c0001t0014g0125 a0001c0001t0017g0172 a0001c0001t0017g0173 a0001c0001t0019g0189 a0001c0001t0019g0193 a0001c0001t0031g0194 a0001c0002t0006g0099 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0036g0283 a0001c0002t0037g0093 a0001c0002t0038g0284 a0001c0002t0050g0103 a0002c0003t0006g0092 a0002c0003t0006g0094 a0002c0003t0006g0096 a0002c0003t0006g0097 a0002c0003t0006g0098 a0002c0003t0006g0101 a0002c0003t0010g0004 a0002c0003t0010g0005 a0002c0003t0010g0006 a0002c0003t0010g0007 a0002c0003t0039g0095	26	289	0.0900	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACTATATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACTGTATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0015 a0001c0001t0013g0015	1	289	0.0035	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACTGTATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATATATACTATATACTGTATATTATATATACTATATACTGTATA TTATATATACAATATATTGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACTATATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0020 a0001c0004t0008g0020	1	289	0.0035	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATATATACTATATACTGTATATTATATATACTA TATACTGTATATTATATATACAATATATTGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACTATATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(313): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAGTATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATACTATATACAGTA TAATATATATATACTATATACTGTATATTATATATACAATATACAGTATA TTATATATACAATATATAGTATATATAATATACAGTATATAGTATATATA ATATACAGTATATAGTATATATAATATACTATATATAGTATATATACAAT ATACTATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19030.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0091 a0001c0002t0008g0100 a0001c0002t0008g0091 a0001c0002t0008g0100	2	289	0.0069	320	c.168 others(339): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAGTATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAC TATATACAGTATAATATATATATACTATATACTGTATATTATATATACAA TATACAGTATATTATATATACAATATATAGTATATATAATATACAGTATA TAGTATATATAATATACAGTATATAGTATATATAATATACTATATATAGT ATATATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPATA7_chr14_88380657_88443460	88392867	G G	GCGATTAC others(313): Show GCGATTACACTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 NA18522.hp1 others(1): Show HG02451.hp1 HG03195.hp1 NA18522.hp1 NA19240.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0003 a0006c0005t0001 a0006c0005t0003	a0006c0005t0001g0014 a0006c0005t0003g0015 a0006c0005t0001g0014 a0006c0005t0003g0015	4	364	0.0110	320	c.95- others(333): Show c.95-512_95-511insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCACGATTACACTTGTT	SPATA7	ENSG00000042317.17	transcript	ENST00000393545.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	T T	TCCATCTT others(313): Show TCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCCTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	356	0.0028	320	c.646 others(337): Show c.646-1579_646-1578insATCTTCCATCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CCCTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCA TCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852895	G G	GATCCCAT others(313): Show GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0296 a0003c0005t0001g0298 a0003c0005t0001g0296 a0003c0005t0001g0298	2	356	0.0056	320	c.646 others(337): Show c.646-1352_646-1351insGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCATCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852895	G G	GATCCCAT others(313): Show GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGG CCCATCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCTCAAGATCCCATGGCCCATCTTCC GTCCTCCCTCTCACCCCCCGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	356	0.0028	320	c.646 others(337): Show c.646-1356_646-1355insTCAAGATCCCATGGCCCATCTTCCGTCC TCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCTCAAGATCCCATGGCCCATCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852934	G G	GGATCCCA others(313): Show GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCAGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCTCAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	356	0.0028	320	c.646 others(337): Show c.646-1352_646-1351insGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCTCAA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SRCIN1_chr17_38525031_38610952	38594629	A A	ACTACTTT others(313): Show ACTACTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04184.hp1 HG03669.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0129 a0001c0003t0001g0130	2	261	0.0077	320	c.22+ others(337): Show c.22+11054_22+11055insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGTAG	SRCIN1	ENSG00000277363.5	transcript	ENST00000617146.5	protein_coding	1/18			chr17	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(313): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	396	0.0025	320	c.485 others(335): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(313): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	365	0.0027	320	c.979 others(335): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(313): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	365	0.0027	320	c.979 others(335): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
SRXN1_chr20_641615_658200	642300	G G	GCCCAGCG others(313): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGTGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	320	c.64 others(331): Show c.6413_*6414insGCCCCCCACCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4314		chr20	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GGCCCAGC others(313): Show GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	422	0.0024	320	c.63 others(331): Show c.6322_*6323insGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCT GCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAG GCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar
SSH2_chr17_29620938_29935228	29895242	A A	ATTATATA others(313): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATTTTATATATACATTTTATATATGAAATATA TAAAATATATTTTATATATACATTTTATATATGAAATATATAAAATATAT TTTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	232	0.0043	320	c.63+ others(337): Show c.63+34376_63+34695dupAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAAAATATATT TTATATATTTCATATATAAAATGTATATATAAAATATATTTTATATATTT CATATATAAAATGTATATATAAAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AAAATATATTTTATATATTTCATATATAAAATGTATATATAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(313): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGGAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	426	0.0024	320	c.138 others(339): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTTTTTG AGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STAU2_chr8_73415369_73751840	73742235	T T	TAAAATCC others(313): Show TAAAATCCACCTCCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG03540.hp2 HG02109.hp1 HG02965.hp1 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0005c0007t0001 a0001c0001t0001 a0001c0003t0001 a0005c0007t0001	a0001c0001t0001g0226 a0001c0003t0001g0225 a0005c0007t0001g0224 a0001c0001t0001g0226 a0001c0003t0001g0225 a0005c0007t0001g0224	3	240	0.0125	320	c.-19 others(339): Show c.-196-2368_-196-2367insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGAGGAGGTGGATTTT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	1/14			chr8	TogoVar
STIM1_chr11_3850664_4098208	4096977	T T	TAAAAAGT others(313): Show TAAAAAGTGCTACCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03486.hp1 HG02818.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0009 a0001c0001t0002 a0003c0005t0009	a0001c0001t0002g0210 a0003c0005t0009g0012 a0001c0001t0002g0210 a0003c0005t0009g0012	2	300	0.0067	320	c.51 others(331): Show c.5179_*5180insAAAAAGTGCTACCTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding		3770		chr11	TogoVar

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