Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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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
RAD17_chr5_69364818_69419801	69377646	T T	TATGCATA others(237): Show TATGCATATATATGCATATATATGTATGCATATATATATGCATATATATG TATACATATATATGCATATATATGTATACATATATATGCATATATATGTA TGCATATATATGTATACATATATATGCATATATATGCATACATATATATG CATATATATATGCATACATATATATGCATACATATATGCATGCATATATA TATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	359	0.0028	244	c.351 others(261): Show c.351+2947_351+2948insGCATATATATGTATGCATATATATATGC ATATATATGTATACATATATATGCATATATATGTATACATATATATGCAT ATATATGTATGCATATATATGTATACATATATATGCATATATATGCATAC ATATATATGCATATATATATGCATACATATATATGCATACATATATGCAT GCATATATATATGCATACATATATGCATGCATATATATATGCATACATAT ATGCATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TGCATATA others(237): Show TGCATATATATGCATATATATGTATGCATATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATACATATGTATG CATATATATGTATACATATATATGCATATATATATGCATACATATATATG CATATATATATGCATACATATATATGCATACATATATGCATGCATATATA TATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03669.hp2 NA18939.hp2 others(1): Show HG02083.hp1 HG03669.hp2 NA18939.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0004 a0001c0001t0001g0237 a0001c0001t0001g0238	4	359	0.0111	244	c.351 others(261): Show c.351+2935_351+2936insGCATATATATGCATATATATGTATGCAT ATATATATGCATATATATGTATACATATATATGCATATATATGTATACAT ATATATGCATACATATGTATGCATATATATGTATACATATATATGCATAT ATATATGCATACATATATATGCATATATATATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT ATGCATACATATATGC	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RAD17_chr5_69364818_69419801	69377646	T T	TGCATATA others(237): Show TGCATATATATGCATATATATGTATGCATATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATGTATG CATATATATGTATACATATATATGCATATATATATGCATACATATATATG CATATATGTATGCATACATATATATGCATACATATATGCATGCATATATA TATGCATACATATATGCATGCATATATATATGCATACATATATGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	359	0.0028	244	c.351 others(261): Show c.351+2935_351+2936insGCATATATATGCATATATATGTATGCAT ATATATATGCATATATATGTATACATATATATGCATATATATGTATACAT ATATATGCATATATATGTATGCATATATATGTATACATATATATGCATAT ATATATGCATACATATATATGCATATATGTATGCATACATATATATGCAT ACATATATGCATGCATATATATATGCATACATATATGCATGCATATATAT ATGCATACATATATGC	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18			chr5	TogoVar
RAE1_chr20_57346255_57384202	57350906	C C	CGGGGGGG others(237): Show CGGGGGGGGCGGGGGGACGGGGGGACGGGGGGACGGGGGGACGGGGGGCG GGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGG CGGGGGGACGGGGGCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGCGGGG GCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGCGCGGGGGGGCGGGGGCGG GGGGACGGGGGCGGGGGGCGCGGGGGGGCGGGGGGGGCGGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	342	0.0029	244	c.-52 others(253): Show c.-524_-523insGGGGGGGGCGGGGGGACGGGGGGACGGGGGGACGGG GGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGG GGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGACGGGGGCGGGGGGGG CGGGGGGGCGGGGGCGGGGGGGGCGGGGGGGCGGGGGCGGGGGGCGCGGG GGGGCGGGGGCGGGGGGACGGGGGCGGGGGGCGCGGGGGGGCGGGGGGGG CGGCGCGG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		348		chr20	TogoVar
RASA3_chr13_113972783_114137623	114099651	C C	CACAGCCC others(237): Show CACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCAC AGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCACCCCCCACAGCA GCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCCCCCA CACAGCCCCCACAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAG CAGCCCCCCCACAGCCCCCACACAGCCCCCACAGCAGCCCCCCCA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	67	0.0149	244	c.56- others(261): Show c.56-25815_56-25814insTGGGGGGGCTGCTGTGGGGGCTGTGTGG GGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGG CTGCTGTGGGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGCTGT GGGGGCTGTGGGGGGGCTGCTGTGGGGGGTGCTGTGGGGGGCTGTGGGGG GGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGGCTGCTGTGGG GGCTGTGGGGGGCTGT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79138709	A A	ATGCCCCC others(237): Show ATGCCCCCCTCACCCACACACGCACACACACAGCAGATGCGTTCACACCC CCTCACCCATACATATGCACACGCACATGTTCATGCCCCCCTCACCCACA CACGCACGCACACAGCACATGCATTCACACCCCCTCACCCATACATATGC ACACGCACATGTTCATGCCCCCCTCACCCACACATGCACACACAGCACAT GCGTTCACACCCCCTTCACCCATGCACGCACACAGCACATGCGTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	154	0.0065	244	c.-33 others(263): Show c.-33-22962_-33-22961insAACGCATGTGCTGTGTGCGTGCATGG GTGAAGGGGGTGTGAACGCATGTGCTGTGTGTGCATGTGTGGGTGAGGGG GGCATGAACATGTGCGTGTGCATATGTATGGGTGAGGGGGTGTGAATGCA TGTGCTGTGTGCGTGCGTGTGTGGGTGAGGGGGGCATGAACATGTGCGTG TGCATATGTATGGGTGAGGGGGTGTGAACGCATCTGCTGTGTGTGTGCGT GTGTGGGTGAGGGGGGCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCCTCCCT others(237): Show TCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCC TCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	354	0.0028	244	c.365 others(259): Show c.365+407_365+408insCTCCCTCCTCCCTCCCTCCTCCCTCCCTCC TCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCC TCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTT CTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTC CTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCC TCCCTCCTCCTTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401360	C C	CTCCCTCC others(237): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCC TCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCT CCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCT CCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	354	0.0028	244	c.365 others(259): Show c.365+428_365+429insCTCCCTCCTCCTCCCTCCTCCTCCCTCCTT CCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCC TCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTT CTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTC CTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCC TCCCTCCTCCTTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759499	G G	GTATGTAT others(237): Show GTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATGTATGT ATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTAT GTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGT GTATACATACGTATGTGTATACATACATACGTATGTGTATACATACATAC GTATGTATGTGTATACATACATACGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	244	c.-23 others(255): Show c.-2315_-2314insTGTATGTATACACATACATACGTATGTATGTATA CACATACATACGTATGTATGTATACACATACGTATGTATGTATACACATA CGTATGTATACACATACATACATACGTATGTATACACATACATACATACG TATGTATACACATACATACATACGTATGTATACACATACATACATACGTA TGTATACACATACATACATACGTATGTATACACATACATATGTATGCATA CACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2090		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759512	T T	TGCATACA others(237): Show TGCATACATATGTATGTGTATGCATACATATGTATGTGTATGCATACATA TGTATGTGTATGCATACATATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTGTACACATACATACGTATGTATGTGTA CACATACGTATGTATGTGTACACATACATACGTATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	244	c.-23 others(255): Show c.-2328_-2327insGTACACATACATACGTATGTATGTGTACACATAC ATACGTATGTGTACACATACATACGTATGTATGTGTACACATACATACGT ATGTATACACATACATACATACGTATGTATACACATACATACATACGTAT GTATACACATACATACATACGTATGTATACACATACATACATATGTATGC ATACACATACATATGTATGCATACACATACATATGTATGCATACACATAC ATATGTATGC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2103		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(237): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTA TGTATGTGTATACATACATATGTATGTGTATACATACATATGTATGTATG TGTATACATACATATGTATGTATGTGTATACATACATATGTATGTATGTG TATACATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	244	c.-24 others(255): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATATGTATGTATACACATACATACATAT GTATGTATACACATACATACATATGTATGTATACACATACATATGTATGT ATACACATACATACGTATGTATACACATACATACGTATGTATGTATACAC ATACATACGTATGTATGTATACACATACATACGTATGTATACACATACAT ACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RIMBP2_chr12_130391133_130721299	130392615	C C	CGTGTGTC others(237): Show CGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGT CACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGT GATGACCCGGTCACCGTCATCATGTGTGTCCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02717.hp1 others(3): Show HG02258.hp1 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03130.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0020 a0001c0043 others(2): Show a0001c0005 a0001c0020 a0001c0043 a0001c0049 a0002c0016	a0001c0005t0001 a0001c0020t0001 a0001c0043t0001 others(2): Show a0001c0005t0001 a0001c0020t0001 a0001c0043t0001 a0001c0049t0001 a0002c0016t0001	a0001c0005t0001g0129 a0001c0020t0001g0118 a0001c0020t0001g0140 others(3): Show a0001c0005t0001g0129 a0001c0020t0001g0118 a0001c0020t0001g0140 a0001c0043t0001g0108 a0001c0049t0001g0169 a0002c0016t0001g0135	6	180	0.0333	244	c.47 others(255): Show c.4745_*4746insACGTGATGACGGTGACCGGGTCATCACAACATTC AATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATC ACAACATTCAATATTCACCAGGTAACTGACGGACACACATGATGACGGTG ACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACACG TGATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTG ACGGACACAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3517		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130481098	G G	GGGGGGCA others(237): Show GGGGGGCACCCAGGCTCAGGGGGAGGGGTGTGGCCCCTCGGGAGGAGGCA GGTGGTGAGGGCGGGGGCACCCAGGCTCAGGGGGAGGGGTGTGGCCCCTC GGGAGGAGGCAGGTGGTGAGGGCGGGGGCACCCAGGCTCAGGGGGAGGGG TGTGGCCCCTCGGGAGGAGGCAGGTGGTGAGGGCGGGGGCACCCAGGCTC AGGGGGAGGGGTGTGGCCCCTCGGGAGGAGGCAGGTGGTGAGGGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	180	0.0056	244	c.-3- others(259): Show c.-3-2083_-3-2082insGCCCTCACCACCTGCCTCCTCCCGAGGGGC CACACCCCTCCCCCTGAGCCTGGGTGCCCCCGCCCTCACCACCTGCCTCC TCCCGAGGGGCCACACCCCTCCCCCTGAGCCTGGGTGCCCCCGCCCTCAC CACCTGCCTCCTCCCGAGGGGCCACACCCCTCCCCCTGAGCCTGGGTGCC CCCGCCCTCACCACCTGCCTCCTCCCGAGGGGCCACACCCCTCCCCCTGA GCCTGGGTGCCCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	4/22			chr12	TogoVar
RPA3_chr7_7631518_7723607	7679638	A A	ATTTATAG others(237): Show ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	308	0.0033	244	c.-75 others(263): Show c.-758+6191_-758+6192insCTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAAT ATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATC TATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	242506	A A	ACCTTCCT others(237): Show ACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGA TTACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATT GATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTA TTGATTACCCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGAATACCTTCCTCTATTGATTAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0070 a0001c0001t0017g0070	1	133	0.0075	244	c.613 others(261): Show c.613+4604_613+4605insGTAATCAATAGAGGAAGGTATTCAATAG AGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAAT AGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATC AATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGT CAATAGAGGAAGGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGT AATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(237): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	376	0.0027	244	c.-58 others(251): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCC ACCCCGCGCCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGC CCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SAMD11_chr1_918923_949574	934273	G G	GCGTTACA others(237): Show GCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC AGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0238 a0002c0003t0004g0238	1	434	0.0023	244	c.843 others(261): Show c.843-1485_843-1484insGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACA GGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGC TCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(237): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATACGTATATATATACACATATATATGTGTGTATATATACG TATATATACACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATATACGTATATATACACACATATATATGTGTATATA TACGTATATATATACACATATATATGTGTATATATACGTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	244	c.-32 others(255): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATACGTATATATATACACATATATAT GTGTGTATATATACGTATATATACACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATATACGTATATATACACACAT ATATATGTGTATATATACGTATATATATACACATATATATGTGTATATAT ACGTATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(237): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATATACACATATATATGTGTATATATA CGTATATATATACACATATATATGTGTATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	244	c.-32 others(255): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATATACACATAT ATATGTGTATATATACGTATATATATACACATATATATGTGTATATATAC GTATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCN11A_chr3_38840764_39056944	38877022	T T	TATATATA others(237): Show TATATATATGGTATATATATGGTGTATATACCATATATGGTATATATATG GTGTATATACCATATATGGTATATATATGGTGTATATACCATATATATGG TATATATATGGTGTATATACCATATATATGGTATATATATGGTGTATATA CCATATATATGGTATATATATGGTGTATATACCATATATATGGTATATAT ATGGTGTATATACCATATATATGGTATATATATGGTGTATATACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0288 a0001c0015t0003g0288	1	314	0.0032	244	c.339 others(263): Show c.3393+2927_3393+2928insGGTATATACACCATATATATACCATA TATATGGTATATACACCATATATATACCATATATATGGTATATACACCAT ATATATACCATATATATGGTATATACACCATATATATACCATATATATGG TATATACACCATATATATACCATATATATGGTATATACACCATATATATA CCATATATGGTATATACACCATATATATACCATATATGGTATATACACCA TATATATACCATATATAT	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1288341	C C	CCCGTCCC others(237): Show CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	244	c.166 others(261): Show c.1662+311_1662+312insGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(237): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAG GGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAG CGAGGGGAGGGGAGCGAGCGAGGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	370	0.0027	244	c.-30 others(263): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCCTC GCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCC CCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCC CTCCCCTCGCTCGCTCCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCG CTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26209966	A A	AGAGGGAG others(237): Show AGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGAAGGGAGGGAGACAGGA AGGAAGGAAGGAAAGACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAG GAAGATGCATATATGGGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAG GAGGGAGGGAAGGAGGAGCAAAGATAAATAGATGGATAGATGGTAGGAAG AAAAGAAAGAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	240	0.0042	244	c.94+ others(261): Show c.94+40215_94+40216insGAGGGAGGAAGGGAGGAAGGAAGGGAGG GAGACAGGAAGGAAGGAAGGAAAGACGGAAAGAAGGAAGGAAAAAAGGAG GGAAGGAAGGAAGATGCATATATGGGTGTATGGGTGGCAGGAAGGAAGAG GGAGGGAAGGAGGGAGGGAAGGAGGAGCAAAGATAAATAGATGGATAGAT GGTAGGAAGAAAAGAAAGAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAGG GAGGGAGGGAGGGAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26209991	G G	GAGGAAGG others(237): Show GAGGAAGGAAGGGAGGGAGACAGGAAGGAAGGAAGGAAAGACGGAAAGAA GGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATATGGGTGTATGGG TGGCAGGAAGGAAGAGGGAGGGAAGGAGGGAGGGAAGGAGGAGCAAAGAT AAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAGGGAAGGAAGG AAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01074.hp1 others(18): Show HG00621.hp2 HG00642.hp1 HG01074.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG02040.hp1 HG02129.hp1 HG02273.hp2 HG02602.hp2 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18977.hp1 NA18983.hp1 NA18989.hp1 NA19010.hp1 NA19062.hp1 NA19064.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0005 a0010c0028 a0001c0001 a0002c0005 a0010c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0005t0003 a0010c0028t0016	a0001c0001t0001g0129 a0001c0001t0002g0012 a0001c0001t0002g0128 others(18): Show a0001c0001t0001g0129 a0001c0001t0002g0012 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0005g0126 a0001c0001t0005g0133 a0001c0001t0005g0135 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0008g0141 a0002c0005t0003g0138 a0010c0028t0016g0140	21	240	0.0875	244	c.94+ others(261): Show c.94+40239_94+40240insGAGGGAGACAGGAAGGAAGGAAGGAAAG ACGGAAAGAAGGAAGGAAAAAAGGAGGGAAGGAAGGAAGATGCATATATG GGTGTATGGGTGGCAGGAAGGAAGAGGGAGGGAAGGAGGGAGGGAAGGAG GAGCAAAGATAAATAGATGGATAGATGGTAGGAAGAAAAGAAAGAAGAAG GGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG AAGGAAGGAAGGAAGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(237): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	282	0.0036	244	c.113 others(263): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTTCCT others(237): Show CTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCC CCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCC TCTTCCTTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCAC CCTCCTCACCGTTGTCTCCCTTCTCCCTCCCTCTCCCCCTCCTGGTTTCT CCCCTCTCCCTCCCTCTCCACCCGCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp2 HG02647.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0001 a0001c0001t0001 a0002c0012t0001	a0001c0001t0001g0278 a0002c0012t0001g0253 a0001c0001t0001g0278 a0002c0012t0001g0253	2	374	0.0054	244	c.248 others(261): Show c.248-1271_248-1270insTCCTTCCTCTCCCCCTCCTGGTTTCTCC CCTCTTCCTTCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCC CCCTCCTGGTTTCTCCCCTCTTCCTTCCTCTCCCCCTCCCAGTTTCTCCC CTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCT CTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCGCCCCCGCA CCGTTTTCTCCCTTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(237): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATGTATTATAT ATTATATAATATATAATATATAATACATTATTTATTATATAATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	290	0.0035	244	c.234 others(261): Show c.234-7088_234-7087insATATTATATAATAAATAATGTATTATAT ATTATATATTATATAATATATAATACATTATATATTATATATTATATAAT ATATAATACATTATATATTATATATTATATAATATATAATACATTATATA TTATATATTATATAATATATAATACATTATATATTATATATTATATAATA TATAATACATTATATATTATATATTATATAATATATAATACATTATATAT TATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(237): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATGTATTATATATTATA TAATATATAATATATAATGTATTATATATTATATAATATATGATATATAA TGTATTATATATTATATAATATATAATATATAATGTATTATATATTATAT AATATATAATATATAATACATTATTTATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02896.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085	3	290	0.0103	244	c.234 others(261): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATCATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATAATA TATAATACATTATATATTATATATTATATAATATATAATACATTATATAT TATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	411273	G G	GGGGGGTG others(237): Show GGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCT GGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCA GTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18995.hp1 NA19080.hp1 HG03834.hp2 NA18995.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0028 a0001c0003t0001g0031 a0001c0003t0001g0032	3	242	0.0124	244	c.-15 others(263): Show c.-153-1247_-153-1246insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCAG ACATGGTCAGAGCTGGGCACCCCCCCCCCCCCGACTGCATCCAGACATGG TCAGAGCTGGGCACCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411274	G G	GGGGGTGC others(237): Show GGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGGGGGGGG TGCCCAGCTCTGACCATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGC TCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCT GGATGCAGTCGGGCGGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCA GTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0106 a0001c0006t0001g0115 a0001c0006t0001g0106 a0001c0006t0001g0115	2	242	0.0083	244	c.-15 others(263): Show c.-153-1248_-153-1247insGACTGTATCCAGACATGGTCAGAGCT GGGCACCCCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGACT GCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATTCAG ACATGGTCAGAGCTGGGCACCCCCCCCCCCCCCGACTGCATCCAGACATG GTCAGAGCTGGGCACCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIGIRR_chr11_400716_419999	411476	A A	AGGGGGGT others(237): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGTGGG GGTTGCCCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	242	0.0041	244	c.-15 others(263): Show c.-153-1450_-153-1449insCCCCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGGGCAACCCCCACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCG ACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGCCGACTGTATCCA GACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATCCAGACATGGT CAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(237): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACAT AGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATA TGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	300	0.0033	244	c.626 others(261): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATACA TAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATACATAGAAAATATATATACATGT TTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(237): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATACAT AGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATATA TGTACATATGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18946.hp2 NA19062.hp1 HG02572.hp2 NA18946.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0278 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0278	3	300	0.0100	244	c.626 others(261): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATATACATAGAAAATATATGTACATATGTTTTCTATGTATATATACA TAGAAAATATATGTACATATGTTTTATATGTATATATACATAGAAAATAT ATGTACATATGTTTTATATGTATATATACATAGAAAATATATATACATGT TTTATATGTATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1098348	C C	CAGCCCCC others(237): Show CAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCT CTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAA CCCTCTGCATGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCT CTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0009 a0006c0019t0009	a0006c0019t0009g0013 a0006c0019t0009g0013	1	118	0.0085	244	c.125 others(261): Show c.125-4101_125-4100insTGGTGAGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG CCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAG GGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTGAGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGA GGGTTAGAGGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(237): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0064 a0003c0006t0002g0064	1	304	0.0033	244	c.184 others(261): Show c.184-2020_184-2019insTTTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTCCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC27A5_chr19_58493333_58516992	58502256	C C	CAGAGTAG others(237): Show CAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTTATAGTAGTGAGTG AGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTGGATGGATGGG TGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGAGTAGTG AGTGAGAAGATGGATGTGTGGACAGTTAGAGTAGTGAGTGAGAAGATGGA TGGGTGAACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02055.hp2 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0087 a0001c0004t0001g0088	2	424	0.0047	244	c.105 others(261): Show c.1058-847_1058-846insAACTGTTCACCCATCCATCTTCTCACTC ACTACTCTGTTCACCCATCCATCTTCTCACTCACTACTCTAACTGTCCAC ACATCCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTACTCACTC ACTACTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCTAACTGT TCACCCATCCATCTTCTCACTCACTACTATAACTGTTCACCCATCCATCT ACTCACTCACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502494	A A	AACAGTTA others(237): Show AACAGTTAGAGTAGTGAGTGAGTGGATGGATGGGTGGACAGTTAGAGTAG TGAGTGAGTAGATGGATGGGTGGACAGAGTAGTGAGTGAGAAGATGGATG TGTGGACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAG TGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATG GATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGCTGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0050 a0014c0012t0001g0050	1	424	0.0024	244	c.105 others(263): Show c.1058-1085_1058-1084insCCAGCCATCCATCTACTCACTCACTA CTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTGTCCAC CCATCCATCTACTCACTCACTACTCTAACTGTTCACCCATCCATCTTCTC ACTCACTACTCTGTCCACACATCCATCTTCTCACTCACTACTCTGTCCAC CCATCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCCACTC ACTCACTACTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053399	T T	TATTTATA others(237): Show TATTTATATATTATATATATTTATATATATTTATATATTATATATATATT TATATATATTATATATATTATATATTTATATATTATATATATTTATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATTTATATATTATCATATATTTATATA TATTCATATATTTATATATTATATCATATTTATATATATTATATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	336	0.0030	244	c.293 others(261): Show c.293+4048_293+4049insGATATAATATATATAAATATGATATAAT ATATAAATATATGAATATATATAAATATATGATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATAAATATATATAATATATAAATATATAA TATATATAATATATATAAATATATATATAATATATAAATATATATAAATA TATATAATATATAAAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923726	C C	CATATGTA others(237): Show CATATGTACATATATACATATGTATATATACATATATGTACATATGTACA TATATACATATGTACATATATACATATGTATATATACATATATGTACATA TGTACATATATACATATGTATATATACATATATGTACATATGTACATATA TACATATACATATGTACATATACACATATACATATGTATATATACATATA TGTACACATGTACATATACATATGTATATATGTACATATGTACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02451.hp2 HG03471.hp2 others(1): Show HG00741.hp1 HG02451.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0023 a0001c0001t0048 a0001c0001t0010 a0001c0001t0023 a0001c0001t0048	a0001c0001t0010g0177 a0001c0001t0010g0179 a0001c0001t0023g0161 others(1): Show a0001c0001t0010g0177 a0001c0001t0010g0179 a0001c0001t0023g0161 a0001c0001t0048g0178	4	182	0.0220	244	c.173 others(263): Show c.173+15834_173+15835insCATATATACATATGTATATATACATA TATGTACATATGTACATATATACATATGTACATATATACATATGTATATA TACATATATGTACATATGTACATATATACATATGTATATATACATATATG TACATATGTACATATATACATATACATATGTACATATACACATATACATA TGTATATATACATATATGTACACATGTACATATACATATGTATATATGTA CATATGTACATATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(237): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18957.hp2 NA18973.hp1 others(3): Show HG00621.hp1 NA18957.hp2 NA18973.hp1 NA18985.hp2 NA19011.hp2 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0011 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0011 a0002c0002t0003g0237 a0002c0002t0003g0238	6	420	0.0143	244	c.183 others(263): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATATAAATT ATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC9A3_chr5_465456_529449	502907	C C	CGCCGTAA others(237): Show CGCCGTAACGACACAGATGGGCGCTGTGTTCCAGTGAAACTTTACCACTC ACTACCACTGAGGCCGAAAGCTGCCGTAACGACACAGATGGGCGCTGTGT TCCAGTGAAACTTTACCACTCACTACCAGTGAGGCCGAAAGCCGCTGTAA CGACACAGACGGGCGCCGAAAGCCGCCGTAATGACACAGATGGGCGCTGT GTTCCAGTGAAACTTTACCACTCACTACCACTGAGGCCGAAAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0153 a0002c0005t0002g0153	1	218	0.0046	244	c.212 others(263): Show c.212-10837_212-10836insAGCTTTCGGCCTCAGTGGTAGTGAGT GGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCATTACGGCGGCTT TCGGCGCCCGTCTGTGTCGTTACAGCGGCTTTCGGCCTCACTGGTAGTGA GTGGTAAAGTTTCACTGGAACACAGCGCCCATCTGTGTCGTTACGGCAGC TTTCGGCCTCAGTGGTAGTGAGTGGTAAAGTTTCACTGGAACACAGCGCC CATCTGTGTCGTTACGGC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047039	T T	TAAATATA others(237): Show TAAATATATATATAATATATAAATATATATATATAAATATATATATAATA TATAAATATATATATATAAATATATATAATATATAAATATATATATAAAT ATATAATATATAAATATATATACAAATATATATATAATATATAAATATAT ACAAATATATATATAATATATAAATATATATACAAATATATATATAATAT ATAAATATATATACAAATATATATATAATATATAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA18939.hp1 HG01069.hp2 HG01071.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0004t0004g0094 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0004t0004g0094	3	190	0.0158	244	c.647 others(263): Show c.647-47812_647-47811insTATAAATATATATATAATATATAAAT ATATATATATAAATATATATAATATATAAATATATATATAAATATATAAT ATATAAATATATATACAAATATATATATAATATATAAATATATACAAATA TATATATAATATATAAATATATATACAAATATATATATAATATATAAATA TATATACAAATATATATATAATATATAAATATATATACAAATATATATAT AATATATAAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55501102	A A	ATTATAAT others(237): Show ATTATAATATATAATATATATTATATTTTATATTATAATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp1 HG01981.hp1 others(5): Show HG01175.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 NA18944.hp1 NA19070.hp2 NA19079.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 others(5): Show a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0232 a0001c0001t0003g0245 a0001c0001t0004g0189 a0001c0001t0004g0233	8	340	0.0235	244	c.17 others(263): Show c.174+9776_*174+9777insCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTAT ATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATT ATATATCATAAAATATAATGTATATTATATATTATAATATAAAATATAAT ATATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246233487	A A	ACTCCTTC others(237): Show ACTCCTTCAATTCACACTGTGATGAACATATACCACACAGAAGAGAAGCA CTCCTCAATTCACACTGTGATGAACATGTACCACACAGAGGAGAAGCGCT CCTTCAATCCACACTGTGATGAACATATACCACACAGAGGAGAAGCACTC CTTCAATCCACACAGTGATGAACATGTACCACACAGAGGAGAATCGCTCC TTCAGTCCACACTGTGGTGAACATACACCACACAGAGGAGAAGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	150	0.0067	244	c.531 others(263): Show c.531+93713_531+93714insCACTTCTCCTCTGTGTGGTGTATGTT CACCACAGTGTGGACTGAAGGAGCGATTCTCCTCTGTGTGGTACATGTTC ATCACTGTGTGGATTGAAGGAGTGCTTCTCCTCTGTGTGGTATATGTTCA TCACAGTGTGGATTGAAGGAGCGCTTCTCCTCTGTGTGGTACATGTTCAT CACAGTGTGAATTGAGGAGTGCTTCTCTTCTGTGTGGTATATGTTCATCA CAGTGTGAATTGAAGGAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX6_chr14_34556093_34635148	34557498	T T	TCTTCTCC others(237): Show TCTTCTCCTTCTCCTTCTCCTTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	322	0.0031	244	c.56 others(255): Show c.5623_*5624insGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAAGGAGAAGGA GAAGGAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3594		chr14	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(237): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATTT ATATATATAAATATATATATATAAATATATATATTTATATATATAAATAT ATATATATAAATATATATATTTATATATATAAATATATATATATAAATAT ATATATATTTATATATATAAATATATATATATAAATATATATATATTTAT ATATATAAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03927.hp1 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0367 a0001c0002t0001g0370 a0001c0002t0001g0367 a0001c0002t0001g0370	2	382	0.0052	244	c.159 others(261): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATTTATATATATAAATATATATATATAAATATATATATTTATA TATATAAATATATATATATAAATATATATATTTATATATATAAATATATA TATATAAATATATATATATTTATATATATAAATATATATATATAAATATA TATATATTTATATATATAAATATATATATATTTATATATATAAATATATA TATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(237): Show CCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0056 a0002c0004t0056	a0002c0004t0056g0134 a0002c0004t0056g0134	1	168	0.0060	244	c.548 others(263): Show c.548+52898_548+52899insTCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(237): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCCTCCCTCCC TCCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCTCCCTCCCTCCCTCCCCTTCACCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0127 a0002c0004t0002g0127	1	168	0.0060	244	c.548 others(263): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCC TCCCTCCCTCCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTCCCCTTCACCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(237): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	168	0.0060	244	c.548 others(263): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(237): Show CCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02015.hp1 HG00733.hp2 HG01123.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0002 a0001c0002t0007 a0001c0016t0001 a0001c0002t0002 a0001c0002t0007 a0001c0016t0001	a0001c0002t0002g0074 a0001c0002t0007g0008 a0001c0016t0001g0009 a0001c0002t0002g0074 a0001c0002t0007g0008 a0001c0016t0001g0009	3	168	0.0179	244	c.548 others(263): Show c.548+52889_548+52890insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

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