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
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(241): Show TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATA CATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	248	c.-23 others(259): Show c.-2338_-2337insGTATGTATACACATACATACGTATGTATGTATAC ACATACATACGTATGTATACACATACATACGTATGTATACACATACATAC ATACGTATGTATACACATACATACATACGTATGTATACACATACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759594	T T	TGTATGTG others(241): Show TGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATG TGTATACATACATACGTACGTATGTGTACACATACGTATGTATGTGTATA CATACGTACGTATGTATGTGTACACATACGTATGTATGTGTACACATACG TACGTATGTATGTGTACACATACGTACGTATGTATGTGTACACATACGTA CGTATGTATGTGTACACATACGTACGTATGTATGTGTACACATACGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	248	c.-24 others(259): Show c.-2410_-2409insGTACGTATGTGTACACATACATACGTACGTATGT GTACACATACATACGTACGTATGTGTACACATACATACGTACGTATGTGT ACACATACATACGTACGTATGTGTACACATACATACGTATGTGTACACAT ACATACGTACGTATGTATACACATACATACGTATGTGTACACATACGTAC GTATGTATGTATACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2185		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759608	T T	TACATACG others(241): Show TACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATA CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTGTATACATACATACGTATGTATGTGTACACATACGTA TGTATGTGTATACATACATACGTATGTATGTGTACACATACGTATGTATG TGTACACATACATATGTATGTATGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	248	c.-24 others(259): Show c.-2424_-2423insGTACACATACATATGTATGTGTACACATACATAC ATATGTATGTGTACACATACATACGTATGTGTACACATACATACGTATGT ATGTATACACATACATACGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2199		chr3	TogoVar
RGS11_chr16_263307_280944	267528	A A	ACACACAC others(241): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTAAAC ACAATCACACATGCTATGCGTACACACCACACCTGTGCCTCACAGTGCTA CACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCTCA CAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTGTAC ACACCACACGTGTGCCTCTGCTACACATGCCTCATACACACGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(89): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02572.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19002.hp2 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0012 a0015 a0018	a0001c0001 a0001c0002 a0001c0010 others(12): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0002c0005 a0002c0015 a0002c0019 a0002c0025 a0003c0018 a0005c0011 a0005c0022 a0010c0021 a0012c0034 a0015c0030 a0018c0033	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0010t0001 a0002c0003t0002 a0002c0005t0002 a0002c0015t0002 a0002c0019t0002 a0002c0025t0002 a0003c0018t0002 a0005c0011t0002 a0005c0022t0002 a0010c0021t0002 a0012c0034t0002 a0015c0030t0001 a0018c0033t0002	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0044 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0002g0078 a0001c0002t0002g0088 a0001c0010t0001g0041 a0001c0010t0001g0122 a0001c0010t0001g0125 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0013 a0002c0003t0002g0019 a0002c0003t0002g0069 a0002c0003t0002g0073 a0002c0003t0002g0084 a0002c0003t0002g0103 a0002c0003t0002g0175 a0002c0003t0002g0176 a0002c0003t0002g0178 a0002c0005t0002g0008 a0002c0005t0002g0011 a0002c0005t0002g0021 a0002c0005t0002g0063 a0002c0005t0002g0129 a0002c0005t0002g0158 a0002c0005t0002g0162 a0002c0005t0002g0163 a0002c0015t0002g0026 a0002c0019t0002g0042 a0002c0025t0002g0054 a0003c0018t0002g0058 a0005c0011t0002g0051 a0005c0011t0002g0076 a0005c0022t0002g0046 a0010c0021t0002g0145 a0012c0034t0002g0153 a0015c0030t0001g0141 a0018c0033t0002g0160	92	456	0.2018	248	c.17 others(259): Show c.1740_*1741insCACGTGTCGTGTGTATGAGGCATGTGTAGCAGAG GCACACGTGTGGTGTGTACACATAGCATGTGTGATTGTGTGTAGTGCACG TGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCG TGTAGGATGCATGTGTAGCACTGTGAGGCACAGGTGTGGTGTGTACGCAT AGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGC ATATGTGGTGTGTG	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		778		chr16	TogoVar
RGS11_chr16_263307_280944	267528	A A	ACACACAC others(241): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTAAAC ACAATCACACATGCTATGCGTACACACCACACCTGTGCCTCACAGTGCTA CACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCTCA CAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTGTAC ACACCACACGTGTGCCTCTGCTACACATGCCTCATACACATGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	456	0.0022	248	c.17 others(259): Show c.1740_*1741insCACGTGTCATGTGTATGAGGCATGTGTAGCAGAG GCACACGTGTGGTGTGTACACATAGCATGTGTGATTGTGTGTAGTGCACG TGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCG TGTAGGATGCATGTGTAGCACTGTGAGGCACAGGTGTGGTGTGTACGCAT AGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGC ATATGTGGTGTGTG	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		778		chr16	TogoVar
RGS11_chr16_263307_280944	267528	A A	ACACACAC others(241): Show ACACACACCACATATGCATGCCTCAGTACACCTGCACACGTGCACTAAAC ACAATCACACGTGCTATGCGTACACACCACACCTGTGCCTCACAGTGCTA CACATGCATCCTACACGACACGTGCACACACACCACACATGCATGCCTCA CAGTACACCTGCACACGTGCACTACACACAATCACACATGCTATGTGTAC ACACCACACGTGTGCCTCTGCTACACATGCCTCATACACACGACACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0003 a0003	a0003c0004 a0003c0023 a0003c0004 a0003c0023	a0003c0004t0006 a0003c0023t0002 a0003c0004t0006 a0003c0023t0002	a0003c0004t0006g0082 a0003c0023t0002g0167 a0003c0004t0006g0082 a0003c0023t0002g0167	2	456	0.0044	248	c.17 others(259): Show c.1740_*1741insCACGTGTCGTGTGTATGAGGCATGTGTAGCAGAG GCACACGTGTGGTGTGTACACATAGCATGTGTGATTGTGTGTAGTGCACG TGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGTGTGTGCACGTGTCG TGTAGGATGCATGTGTAGCACTGTGAGGCACAGGTGTGGTGTGTACGCAT AGCACGTGTGATTGTGTTTAGTGCACGTGTGCAGGTGTACTGAGGCATGC ATATGTGGTGTGTG	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		778		chr16	TogoVar
RGS12_chr4_3288021_3444913	3341502	G G	GGGCGGAG others(241): Show GGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTG GAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGG GGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACA AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02622.hp1 others(8): Show HG01891.hp1 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03490.hp1 HG03540.hp1 HG04199.hp1 NA18984.hp2 NA19030.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0015c0039	a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0006t0001 a0015c0039t0001	a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0215 others(8): Show a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0246 a0001c0002t0001g0251 a0001c0004t0001g0169 a0001c0004t0001g0218 a0001c0004t0001g0248 a0001c0006t0001g0191 a0015c0039t0001g0244	11	312	0.0353	248	c.188 others(267): Show c.1882-1434_1882-1433insGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAG ATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPOR3_chr20_50581108_50696542	50666193	T T	TTTTTCTT others(241): Show TTTTTCTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	280	0.0036	248	c.3+2 others(263): Show c.3+24932_3+24933insGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAAAGAAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPH3AL_chr17_207389_357807	333082	G G	GAGAGCTC others(241): Show GAGAGCTCACCACCCCGGGCGTTCGTCACTGCAGACATCACTGCAGACAC AGAGACGGCCATTAGAGCTCACCACCCCGGGCGTTCGTCACTGCAGACAT CACTGCAGACACAGAGACGGCCATTAGAGCTCACCACCCCGGGCGTTCGT CACTGCAGACATCACTGCAGACACAGAGACGGCCATTAGAGCTCACCACC CCGGGCGTTCGTCACTGCAGACATCACTGCAGACACAGAGACGGCCATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	133	0.0075	248	c.-37 others(263): Show c.-37+676_-37+677insAATGGCCGTCTCTGTGTCTGCAGTGATGTC TGCAGTGACGAACGCCCGGGGTGGTGAGCTCTAATGGCCGTCTCTGTGTC TGCAGTGATGTCTGCAGTGACGAACGCCCGGGGTGGTGAGCTCTAATGGC CGTCTCTGTGTCTGCAGTGATGTCTGCAGTGACGAACGCCCGGGGTGGTG AGCTCTAATGGCCGTCTCTGTGTCTGCAGTGATGTCTGCAGTGACGAACG CCCGGGGTGGTGAGCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	2/9			chr17	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(241): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATACGTATATATACACACATATATATGTGTATATATATATA CGTATATATACACACATATATATGTGTATATATATACGTATATATACACA TATATATGTGTATATATATACGTATATATACACATATATATGTGTATATA TATACGTATATATATACACATATATATGTGTATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	330	0.0030	248	c.-32 others(259): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATACGTATATATACACACATATATAT GTGTATATATATATACGTATATATACACACATATATATGTGTATATATAT ACGTATATATACACATATATATGTGTATATATATACGTATATATACACAT ATATATGTGTATATATATACGTATATATATACACATATATATGTGTATAT ATACGTATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(241): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTTGGGGTTGGGTGAG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	290	0.0035	248	c.464 others(261): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTT GGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(241): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0070 a0007c0006t0001g0070	1	290	0.0035	248	c.464 others(261): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77485004	G G	GGGTGATG others(241): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGA TTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATT GTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0043 a0001c0001t0034g0043	1	150	0.0067	248	c.914 others(265): Show c.914-2410_914-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGG TGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGG TGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485004	G G	GGGTGATG others(241): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGA TTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATT GTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0001 a0001c0001t0045g0001	1	158	0.0063	248	c.860 others(265): Show c.860-2410_860-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGG TGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGG TGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGCZ_chr8_14079845_15243431	14992342	C C	CTACTCCC others(241): Show CTACTCCCAAATCTACTCCCAAAACCAATGTTACCCTTGCTATTTACCTC TCACCCTCAACTATTCAACTCCAAAACTAATGTTGGCATTGATATTTATC CCTCACCCATCCTCCTCATCCAATCTACTCCCAAATCTACTCCCAAAACC AGTGTTACCCTTGCTATTTACCTCTCACCCTCAACTATTCAACTCCAAAA CTAATGTTGGCATTGATATTTACCCCTCACCCATCCTCCTCATCCAATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG06807.hp1 HG02486.hp2 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0085 a0001c0001t0091 a0001c0001t0065 a0001c0001t0085 a0001c0001t0091	a0001c0001t0065g0047 a0001c0001t0085g0059 a0001c0001t0091g0102 a0001c0001t0065g0047 a0001c0001t0085g0059 a0001c0001t0091g0102	3	102	0.0294	248	c.39+ others(267): Show c.39+244995_39+245242dupTATTGGATGAGGAGGATGGGTGAGGG GTAAATATCAATGCCAACATTAGTTTTGGAGTTGAATAGTTGAGGGTGAG AGGTAAATAGCAAGGGTAACACTGGTTTTGGGAGTAGATTTGGGAGTAGA TTGGATGAGGAGGATGGGTGAGGGATAAATATCAATGCCAACATTAGTTT TGGAGTTGAATAGTTGAGGGTGAGAGGTAAATAGCAAGGGTAACATTGGT TTTGGGAGTAGATTTGGGAGTA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM2_chr17_2332501_2386054	2355338	G G	GGGGGCAG others(241): Show GGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTT GGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0268 a0016c0022t0001g0268	1	422	0.0024	248	c.134 others(265): Show c.134-6295_134-6294insCAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGAGTTGGGGGCAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401378	C C	CCCCGGCC others(241): Show CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp2 others(6): Show HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01928.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 NA19030.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0044 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0004c0005t0001g0050	9	242	0.0372	248	c.45 others(259): Show c.4517_*4518insTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4337		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070048	C C	CCCCCAGC others(241): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	118	0.0085	248	c.224 others(267): Show c.2241+3584_2241+3585insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGG GCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAA GTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070048	C C	CCCCCAGC others(241): Show CCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	248	c.224 others(267): Show c.2241+3584_2241+3585insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCT CACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGG CTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAA GTGTGATGCCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC25A12_chr2_171778405_171899244	171866658	C C	CGGACGGG others(241): Show CGGACGGGGCGTTTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCC GGAAGGGGCGGCTGGCCGGGGGGGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGTGGGGGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	314	0.0032	248	c.209 others(265): Show c.209+2022_209+2023insAGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCGAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCCCCCACGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCC CCCCGGCCAGCCGCCCCTTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCG CCCGGCCAAACGCCCCGTCC	SLC25A12	ENSG00000115840.14	transcript	ENST00000422440.7	protein_coding	3/17			chr2	TogoVar
SLC38A9_chr5_55620848_55717324	55696708	C C	CCCCCAAC others(241): Show CCCCCAACCTCCCTCCCGGACGGGGTGGCTGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGGCTGACCCCCCC CACATCCCTCCCGGACGGGGTGGCTGCCAGGTGGGGGGCTGACCCCCCG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0004	1	350	0.0029	248	c.113 others(265): Show c.113+1137_113+1138insCGGGGGGTCAGCCCCCCACCTGGCAGCC ACCCCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCA CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCAGCCACCCC GTCCGGGAGGGAGGTTGGGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203174	A A	AGAGGGAG others(241): Show AGAGGGAGAGGGAGACCGTGGAGAGAGAGAGGGAGAGGGAGACGTGGAGA GAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGACCGTG GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGAGGGAGA GAGGGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0176 a0001c0023t0018g0176	1	188	0.0053	248	c.83 others(259): Show c.8397_*8398insCCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCT CTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCTCTCT CTCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCCACGGTCTCC CTCTCCCTCTCCCTCTCTCCACGTCTCCCTCTCCCTCTCTCTCTCCACGG TCTCCCTCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3999		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79952697	G G	GGTGAAGG others(241): Show GGTGAAGGGTGAGGGGCGCCTGGGTGAGGGGTGAGGGGTGAGGGGCGCGC GGGTGAAGAGTGAGGGGCGCGCTGGTGAGGCGTGAGTGATGCGCGAGTGA AGGGTGAGGGGCGCCTGGGTGAGCGGTGAGGGGTGAGGGGCGCGCCGGTG AAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGT GAAGGGTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA21309.hp1 HG02647.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0007g0279 a0001c0001t0007g0280	2	352	0.0057	248	c.-12 others(259): Show c.-1217_-1216insTCGCGCATCACTCACGCCTCACCCCTCACCCACG CTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACCCCTCACCCAC GCTCCCCTCACCCTTCACCGGCGCGCCCCTCACCCCTCACCGCTCACCCA GGCGCCCCTCACCCTTCACTCGCGCATCACTCACGCCTCACCAGCGCGCC CCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCTCACCCAGGCGC CCCTCACCCTTCAC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1045		chr18	TogoVar
SLC8A1_chr2_40092270_40457090	40200220	T T	TTATATAT others(241): Show TTATATATATATAAATATATATATATATTTATATATATATATAAATATAT ATATATATTTATATATATATAAATATATATATATATTTATATATATATAT ATATATTTATATATATATATAAATATATATATATATTTATATATATATAA ATATATATATATATTTATATATATATAAATATATATATATATTTATATAT ATATAAATATATATATATTTTTTTATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0101 a0001c0001t0056g0101	1	236	0.0042	248	c.180 others(269): Show c.1809-21728_1809-21727insTATATATATATTTATATATATATA TAAAAAAATATATATATATTTATATATATATAAATATATATATATATTTA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATATATAAATATATATATA TATTTATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATATATTTATATATATATA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLMAP_chr3_57751309_57935003	57794196	T T	TAGTGTGC others(241): Show TAGTGTGCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	310	0.0032	248	c.198 others(267): Show c.198+36359_198+36360insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGAGTGTGCATTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(241): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	340	0.0029	248	c.17 others(267): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246251983	T T	TGCCCGGC others(241): Show TGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTG CCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGG CTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGA CACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGT AGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(8): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 others(2): Show a0001c0001 a0001c0006 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0018 a0001c0006t0001g0022 a0002c0003t0001g0096 others(8): Show a0001c0001t0001g0018 a0001c0006t0001g0022 a0002c0003t0001g0096 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0002g0095 a0002c0003t0002g0130 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0142 a0002c0005t0002g0106	11	150	0.0733	248	c.531 others(267): Show c.531+74970_531+75217dupGCAGTGTCCGCGGCACCTACTAAAGC CGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGCGGC ACCTACTAAAGCCGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGCAC AGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGCGGCACCTACT AAAGCCGGGCACAGTGTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCC GAGGCACCTACTAAAGCCGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG1_chr8_49906407_50801692	50602279	C C	CCATTGTA others(241): Show CCATTGTATGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0034 a0001c0001t0037g0034	1	106	0.0094	248	c.849 others(267): Show c.849+11377_849+11378insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGCATTGTATGGTTTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(241): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATTTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	382	0.0026	248	c.159 others(265): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATAAATA TATATATATTTATATATATA	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(241): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	168	0.0060	248	c.548 others(267): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCT	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(241): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0035 a0002c0004t0012g0035	1	168	0.0060	248	c.548 others(267): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCT	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(241): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01070.hp1 HG01071.hp1 others(9): Show HG00438.hp2 HG01070.hp1 HG01071.hp1 HG01258.hp1 HG01346.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG03195.hp2 HG04199.hp2 HG06807.hp2 NA19066.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0014	a0001c0002 a0001c0003 a0001c0006 others(4): Show a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0004 a0006c0018 a0014c0024	a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 others(9): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0005 a0001c0003t0064 a0001c0006t0002 a0001c0006t0066 a0001c0009t0001 a0001c0009t0029 a0002c0004t0008 a0002c0004t0014 a0006c0018t0059 a0014c0024t0049	a0001c0002t0002g0133 a0001c0003t0001g0081 a0001c0003t0005g0079 others(9): Show a0001c0002t0002g0133 a0001c0003t0001g0081 a0001c0003t0005g0079 a0001c0003t0064g0005 a0001c0006t0002g0118 a0001c0006t0066g0084 a0001c0009t0001g0151 a0001c0009t0029g0038 a0002c0004t0008g0078 a0002c0004t0014g0110 a0006c0018t0059g0145 a0014c0024t0049g0108	12	168	0.0714	248	c.548 others(267): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(241): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	248	c.54 others(259): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(241): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTC CCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	248	c.54 others(259): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPTSSA_chr14_34427788_34467240	34443508	T T	TGTTGTGT others(241): Show TGTTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAG TTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTG CAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTTTGAGATGGAGTTTTCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0015 a0001c0002t0007g0015	1	344	0.0029	248	c.113 others(265): Show c.113-8205_113-8204insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTT GAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTC CAGCTGGGTAATGAGAGGAAACTCCATCTCAAAACACACACAAACACACA CACACACACACACACACAAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGCC others(241): Show GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	422	0.0024	248	c.67 others(259): Show c.6706_*6707insAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCC CCGCTGGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642133	G G	GGGGGGCC others(241): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0026 a0001c0002t0009g0026	1	422	0.0024	248	c.65 others(259): Show c.6580_*6581insAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4481		chr20	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(241): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0142 a0001c0001t0026g0142	1	422	0.0024	248	c.63 others(259): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCC CCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
SSH2_chr17_29620938_29935228	29895718	A A	ATATTTTA others(241): Show ATATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACATTT CATGTATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTT ATATACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTAT AAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACA CATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAAATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	232	0.0043	248	c.63+ others(265): Show c.63+34219_63+34220insCATTTTATACATGAAATGTGTATATAAA ATACATTTTATACATGAAATGTGTATATAAAATACATTTTATACATGAAA TGTGTATATAAAATACATTTTATACATGAAATGTGTATATAAAATACATT TTATACATGAAATGTGTATATAAAATACATTTTATACATGAAATGTGTAT ATAAAATACATTTTATACATGAAATGTGTATATAAAATACATTTTATACA TGAAATGTGTATATAAAATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895740	A A	ATATAAAA others(241): Show ATATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAA ATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACAT TTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATT TTATATACACATTTCATGTATAAAATGTATTTTATATACACATTTCATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01978.hp1 NA18955.hp1 HG00323.hp1 HG01978.hp1 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0002 a0001c0001t0007 a0002c0002t0002	a0001c0001t0007g0217 a0002c0002t0002g0166 a0002c0002t0002g0194 a0001c0001t0007g0217 a0002c0002t0002g0166 a0002c0002t0002g0194	3	232	0.0129	248	c.63+ others(265): Show c.63+33950_63+34197dupCATGAAATGTGTATATAAAATACATTTT ATACATGAAATGTGTATATAAAATACATTTTATACATGAAATGTGTATAT AAAATACATTTTATACATGAAATGTGTATATAAAATACATTTTATACATG AAATGTGTATATAAAATACATTTTATACATGAAATGTGTATATAAAATAC ATTTTATACATGAAATGTGTATATAAAATACATTTTATACATGAAATGTG TATATAAAATACATTTTATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(241): Show CAAAATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATATAAAATAAAATAAAATAAAATAAAATAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATATAAAATAAAATAAAATAAAATAAAATATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	358	0.0028	248	c.291 others(265): Show c.291-1518_291-1517insATTTTATTTTATATTTTATTTTATTTTA TTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTAT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATTTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STK32B_chr4_5046480_5505989	5064488	G G	GTTATATA others(241): Show GTTATATACATATATAATATATAAATATATACTTATATACATATATAATA TATAAATATATACTTATATACATATATAATATATAAATATATACTTATAT ACATATATAATATATAAATATATACTTATATACATATATAATATATAAAT ATATACTTATATACATATATAATATATAAATATATACTTATATACATATA TAATATATAAATATATACTTATATACATATATAATATATAAATATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01261.hp1 others(14): Show HG01074.hp1 HG01167.hp2 HG01261.hp1 HG01978.hp1 HG02004.hp1 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03471.hp1 HG03831.hp1 NA18612.hp2 NA18966.hp2 NA19011.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0004 a0005c0011t0001	a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0163 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0067 a0001c0001t0001g0163 a0001c0001t0003g0119 a0001c0001t0003g0153 a0001c0001t0007g0114 a0001c0001t0018g0144 a0001c0003t0001g0115 a0001c0003t0002g0034 a0001c0003t0002g0047 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0096 a0002c0002t0001g0145 a0002c0002t0004g0009 a0002c0002t0004g0102 a0005c0011t0001g0045	17	170	0.1000	248	c.52+ others(265): Show c.52+12640_52+12887dupATACATATATAATATATAAATATATACT TATATACATATATAATATATAAATATATACTTATATACATATATAATATA TAAATATATACTTATATACATATATAATATATAAATATATACTTATATAC ATATATAATATATAAATATATACTTATATACATATATAATATATAAATAT ATACTTATATACATATATAATATATAAATATATACTTATATACATATATA ATATATAAATATATACTTAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(241): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATATACTTAT ATAAGTATATATATACGTATATATATAAGTATGTATATACTTGTATATAT ACTTATATAAGTATGTATGTATATATACTTATATAAGTATGTATGTGTAT ATATACACGTATATATATATACTTATATATATACGTGTATATATACTTAT ATATATATACACACACACACACATACATATATACTTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01167.hp2 others(19): Show HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01496.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG04115.hp1 HG04184.hp1 NA18947.hp2 NA18969.hp1 NA19004.hp1 NA19062.hp2	a0007 a0010 a0015 others(11): Show a0007 a0010 a0015 a0016 a0030 a0052 a0055 a0067 a0068 a0087 a0088 a0095 a0102 a0105	a0007c0080 a0010c0013 a0015c0011 others(12): Show a0007c0080 a0010c0013 a0015c0011 a0016c0014 a0030c0134 a0052c0128 a0055c0130 a0055c0144 a0067c0069 a0068c0073 a0087c0139 a0088c0140 a0095c0125 a0102c0117 a0105c0129	a0007c0080t0004 a0010c0013t0001 a0010c0013t0003 others(13): Show a0007c0080t0004 a0010c0013t0001 a0010c0013t0003 a0015c0011t0001 a0016c0014t0004 a0030c0134t0001 a0052c0128t0001 a0055c0130t0001 a0055c0144t0001 a0067c0069t0001 a0068c0073t0004 a0087c0139t0001 a0088c0140t0001 a0095c0125t0001 a0102c0117t0002 a0105c0129t0001	a0007c0080t0004g0121 a0010c0013t0001g0198 a0010c0013t0003g0195 others(19): Show a0007c0080t0004g0121 a0010c0013t0001g0198 a0010c0013t0003g0195 a0010c0013t0003g0196 a0015c0011t0001g0148 a0016c0014t0004g0045 a0016c0014t0004g0060 a0016c0014t0004g0061 a0016c0014t0004g0100 a0016c0014t0004g0103 a0016c0014t0004g0104 a0030c0134t0001g0251 a0052c0128t0001g0035 a0055c0130t0001g0343 a0055c0144t0001g0338 a0067c0069t0001g0169 a0068c0073t0004g0348 a0087c0139t0001g0102 a0088c0140t0001g0207 a0095c0125t0001g0140 a0102c0117t0002g0293 a0105c0129t0001g0212	22	362	0.0608	248	c.982 others(265): Show c.9823-755_9823-754insTATACGTATATATAAGTATATATGTATG TGTGTGTGTGTGTATATATATATAAGTATATATACACGTATATATATAAG TATATATATATACGTGTATATATACACATACATACTTATATAAGTATATA TACATACATACTTATATAAGTATATATACAAGTATATACATACTTATATA TATACGTATATATATACTTATATAAGTATATATATAAGTATATATACACA TACTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYNE2_chr14_63848004_64231433	64224413	A A	ATGCATGA others(241): Show ATGCATGAAACACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18906.hp1 HG00738.hp1 NA18906.hp1	a0007 a0031 a0007 a0031	a0007c0011 a0031c0081 a0007c0011 a0031c0081	a0007c0011t0004 a0031c0081t0004 a0007c0011t0004 a0031c0081t0004	a0007c0011t0004g0029 a0031c0081t0004g0041 a0007c0011t0004g0029 a0031c0081t0004g0041	2	150	0.0133	248	c.203 others(265): Show c.20383-30_20383-29insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGCATGAAACACATTTCT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	113/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(241): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0270 a0003c0004t0001g0270	1	292	0.0034	248	c.395 others(265): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAF4_chr20_61969798_62070881	61970878	G G	GGCATTCA others(241): Show GGCATTCAGCTTCATCACTGCGTCACACACCGGGCAGACGTGCATTCAAC ACCGGTTAGACGGGCATTCAGCTTCATCACTGCGTCACACACCGGGCAGA CGTGCATTCAACACCGGTTAGACGTGCATTCAGCTTCATCACTGCATCAC ACACCGGGTAGACGTGCATTCAACACTGGGTAGACGGGCATTCAGCTTCA TCACTGCATCACACACCGGGCAGACGTGCGTTCAACACTGGGTAGACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 NA19070.hp1 HG03492.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0247 a0001c0002t0001g0236 a0001c0002t0001g0247	2	314	0.0064	248	c.50 others(259): Show c.5042_*5289dupACGTCTACCCAGTGTTGAACGCACGTCTGCCCGG TGTGTGATGCAGTGATGAAGCTGAATGCCCGTCTACCCAGTGTTGAATGC ACGTCTACCCGGTGTGTGATGCAGTGATGAAGCTGAATGCACGTCTAACC GGTGTTGAATGCACGTCTGCCCGGTGTGTGACGCAGTGATGAAGCTGAAT GCCCGTCTAACCGGTGTTGAATGCACGTCTGCCCGGTGTGTGACGCAGTG ATGAAGCTGAATGC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		3919		chr20	TogoVar
TAF4_chr20_61969798_62070881	61970933	T T	TTAGACGT others(241): Show TTAGACGTGCATTCAGCTTCATCACTGCATCACACACCGGGTAGACGTGC ATTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACC GGGCAGACGTGCGTTCAACACTGGGTAGACGTGCATTCAGCTTCATCACT GCATCACACACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCATTC AGCTTCATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02572.hp2 others(2): Show HG01167.hp2 HG02280.hp1 HG02572.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0001g0129 others(2): Show a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131	5	314	0.0159	248	c.52 others(259): Show c.5234_*5235insCCCAGTGTTGAATGCACGTCTACCCGGTGTGTGA TGCAGTGATGAAGCTGAATGCACGTCTACCCAGTGTTGAATGCACGTCTA CCCGGTGTGTGATGCAGTGATGAAGCTGAATGCACGTCTACCCAGTGTTG AACGCACGTCTGCCCGGTGTGTGATGCAGTGATGAAGCTGAATGCCCGTC TACCCAGTGTTGAATGCACGTCTACCCGGTGTGTGATGCAGTGATGAAGC TGAATGCACGTCTA	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		3864		chr20	TogoVar
TEDC1_chr14_105486246_105504248	105502114	A A	AGGATCAA others(241): Show AGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAG CCTCGATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGG CTGGGACTGCAGCCTCGATCTTCCGGGATCAAGTCATCCTCCCACCTCAG CCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTCCGGGATCAAGTCATC CTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(92): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 NA18747.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18969.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18989.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19083.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0009 others(2): Show a0000 a0001 a0009 a0013 a0015	a0000c0003 a0000c0011 a0000c0020 others(6): Show a0000c0003 a0000c0011 a0000c0020 a0000c0022 a0001c0001 a0001c0002 a0009c0016 a0013c0028 a0015c0029	a0000c0003t0001 a0000c0011t0002 a0000c0020t0002 others(11): Show a0000c0003t0001 a0000c0011t0002 a0000c0020t0002 a0000c0022t0002 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0009c0016t0016 a0013c0028t0003 a0015c0029t0001	a0000c0003t0001g0009 a0000c0003t0001g0030 a0000c0003t0001g0109 others(43): Show a0000c0003t0001g0009 a0000c0003t0001g0030 a0000c0003t0001g0109 a0000c0003t0001g0127 a0000c0011t0002g0017 a0000c0011t0002g0145 a0000c0020t0002g0086 a0000c0022t0002g0017 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0002g0053 a0001c0001t0003g0003 a0001c0001t0003g0067 a0001c0001t0018g0003 a0001c0002t0001g0031 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0002g0017 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0061 a0001c0002t0002g0141 a0001c0002t0004g0032 a0009c0016t0016g0099 a0013c0028t0003g0003 a0015c0029t0001g0032	95	436	0.2179	248	c.31 others(259): Show c.3168_*3169insGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAG TGGCTGGGACTGCAGCCTCGATCTTCCGGGATCAAGTCATCCTCCCACCT CAGCCTCCTGAGTGGCTGGGACTGCAGCCTCGATCTTCCGGGATCAAGTC ATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTC CGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCA GCCTCCATCTTCCG	TEDC1	ENSG00000185347.19	transcript	ENST00000392523.9	protein_coding		2867		chr14	TogoVar
TEDC1_chr14_105486246_105504248	105502140	C C	TCTCCTGA others(241): Show TCTCCTGAGTGGCTGGGACTGCAGCCTCGATCTTCCGGGATCAAGTCATC CTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCGATCTTCCGG GATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCC TCCATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCT GGGACTGCAGCCTCCATCTTCCGGGATCAAGTCATCCTCCCACCTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	436	0.0023	248	c.31 others(259): Show c.3193_*3194insTCTCCTGAGTGGCTGGGACTGCAGCCTCGATCTT CCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGC AGCCTCGATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGT GGCTGGGACTGCAGCCTCCATCTTCCGGGATCAAGTCATCCTCCCACCTC AGCCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTCCGGGATCAAGTCA TCCTCCCACCTCAG	TEDC1	ENSG00000185347.19	transcript	ENST00000392523.9	protein_coding		2892		chr14	TogoVar
TEDC1_chr14_105486246_105504248	105502168	G G	GATCTTCC others(241): Show GATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGG GACTGCAGCCTCGATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTC CTGAGTGGCTGGGACTGCAGCCTCCATCTTCCGGGATCAAGTCATCCTCC CACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTCCGGGATC AAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	2	436	0.0046	248	c.32 others(259): Show c.3222_*3223insATCTTCCGGGATCAAGTCATCCTCCCACCTCAGC CTCCTGAGTGGCTGGGACTGCAGCCTCGATCTTCCGGGATCAAGTCATCC TCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCTCCATCTTCCGGG ATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTGCAGCCT CCATCTTCCGGGATCAAGTCATCCTCCCACCTCAGCCTCCTGAGTGGCTG GGACTGCAGCCTCC	TEDC1	ENSG00000185347.19	transcript	ENST00000392523.9	protein_coding		2921		chr14	TogoVar

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