Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(213): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	426	0.0024	220	c.22 others(231): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RPTOR_chr17_80539838_80971368	80748741	G G	GGAGGCCG others(213): Show GGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTG TGTTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGGCTGCG GTGTGTGTTTAGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGGAGGGG CTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTGTTGGGTGGATGG AGGGGCTGCGGTGTGTGTTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG06807.hp2 HG02145.hp1 HG02559.hp1 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0046 a0001c0050 a0001c0011 a0001c0046 a0001c0050	a0001c0011t0024 a0001c0046t0024 a0001c0050t0007 a0001c0011t0024 a0001c0046t0024 a0001c0050t0007	a0001c0011t0024g0147 a0001c0046t0024g0164 a0001c0050t0007g0148 a0001c0011t0024g0147 a0001c0046t0024g0164 a0001c0050t0007g0148	3	196	0.0153	220	c.655 others(237): Show c.655-5160_655-5159insAGAGGCCGTGGCGGGAGGACCTGTTGGG TGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCTG TTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTAGAGGCCGTGGCGGGAGG ACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTTAGAGGCCGTGGCG GGAGGACCTGTTGGGTGGATGGAGGGGCTGCGGTGTGTGTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGB1C2_chr17_132569_144067	139506	C C	CGTGCGAA others(213): Show CGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGGACATCAGGAACAC ACTCAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTC AAGAAGCACAAGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGGACA TCAGGAACACACTCGGGGCCACAGCCACACACACAGACCCACATACAGAG GATCCCACTCAAGAAGCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02970.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	402	0.0050	220	c.56 others(229): Show c.564_*565insGTGCGAAAGTCCCCACAGAGGGGCACACAAATGGGG ACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATACA GAGGATCCCACTCAAGAAGCACAAGTGCGAAAGTCCCCACAGAGGGGCAC ACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACAGA CCCACATACAGAGGATCCCACTCAAGAAGCACAA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		440		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(213): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	290	0.0035	220	c.464 others(233): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43192596	A A	ATATATAT others(213): Show ATATATATATACGTGTATATATATATACGTATATATATATATACGTGTAT ATATATATACGTGTATATATATATATACGTGTATATATATATACGTGTAT ATATATATATACGTGTATATATATATACGTGTATATATATATATACGTGT ATATATATATACGTGTATATATATATATACGTGTATATATATATACGTGT ATATATATATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0028 a0002c0009t0028	a0002c0009t0028g0004 a0002c0009t0028g0004	1	280	0.0036	220	c.11 others(233): Show c.11400_*11401insCACGTATATATATATATATATACACGTATATA TATATACACGTATATATATATATACACGTATATATATATACACGTATATA TATATATACACGTATATATATATACACGTATATATATATATACACGTATA TATATATACACGTATATATATATATACACGTATATATATATACACGTATA TATATATATACGTATATATATATACACGTATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4683		chr22	TogoVar
SDHA_chr5_213320_262082	252788	T T	TTAATGAG others(213): Show TTAATGAGTAAGCCACCGTTTCAGACCTGCCCTGTGGAGGAAATGCCAGT TTATTAAATAACGAGTAAGCCACCGTTTCATACCTGCCCTGTGGAGGAAA TGCCAGTTTATTAACGAGTAAGCCACCGTTTCAAACCTGCCCTGTGGAGG AAATGCCAGTTTATTAACTTGTAAGTCACCGTTTCATACCTGCCCTGTGG AGGAAATGCCAGTTTATTAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01168.hp2 others(7): Show HG00735.hp2 HG01081.hp2 HG01168.hp2 HG02280.hp2 HG02647.hp2 HG03471.hp1 HG03669.hp2 NA18522.hp2 NA18965.hp2 NA19081.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0005 a0002c0003 a0005c0005	a0002c0003t0004 a0005c0005t0004 a0005c0005t0006 a0002c0003t0004 a0005c0005t0004 a0005c0005t0006	a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 others(6): Show a0002c0003t0004g0020 a0002c0003t0004g0101 a0002c0003t0004g0102 a0002c0003t0004g0103 a0002c0003t0004g0104 a0005c0005t0004g0106 a0005c0005t0006g0105 a0005c0005t0006g0107 a0005c0005t0006g0108	10	266	0.0376	220	c.179 others(239): Show c.1794+1323_1794+1324insTGAGTAAGCCACCGTTTCAGACCTGC CCTGTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACCGTTTCA TACCTGCCCTGTGGAGGAAATGCCAGTTTATTAACGAGTAAGCCACCGTT TCAAACCTGCCCTGTGGAGGAAATGCCAGTTTATTAACTTGTAAGTCACC GTTTCATACCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATAA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SDK1_chr7_3296252_4274000	3976981	T T	TGAGGCTG others(213): Show TGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01175.hp1 NA19043.hp1 HG00408.hp2 HG01175.hp1 NA19043.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0002c0053 a0010c0079 a0001c0004 a0002c0053 a0010c0079	a0001c0004t0001 a0002c0053t0067 a0010c0079t0054 a0001c0004t0001 a0002c0053t0067 a0010c0079t0054	a0001c0004t0001g0039 a0002c0053t0067g0034 a0010c0079t0054g0073 a0001c0004t0001g0039 a0002c0053t0067g0034 a0010c0079t0054g0073	3	116	0.0259	220	c.199 others(239): Show c.1994+2447_1994+2448insACAGGGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4204998	G G	GTGTGGTG others(213): Show GTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGG TGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGC GCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGCGCGGAG GAGGTGCGGCCACACCCCTAATGGCGATGTGGTAAGGCGCGGAGGAGGTG CGGCCACACCCCTAATGGCGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02145.hp2 HG02258.hp2 others(3): Show HG01081.hp2 HG02145.hp2 HG02258.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2	a0001 a0011 a0013 others(1): Show a0001 a0011 a0013 a0022	a0001c0017 a0001c0092 a0011c0021 others(2): Show a0001c0017 a0001c0092 a0011c0021 a0013c0070 a0022c0094	a0001c0017t0011 a0001c0092t0048 a0011c0021t0073 others(2): Show a0001c0017t0011 a0001c0092t0048 a0011c0021t0073 a0013c0070t0026 a0022c0094t0025	a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0092t0048g0057 others(3): Show a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0092t0048g0057 a0011c0021t0073g0006 a0013c0070t0026g0112 a0022c0094t0025g0049	6	116	0.0517	220	c.509 others(237): Show c.5099-875_5099-874insGAGGCGCGGAGGAGGTGCGGCCACACCC CTAATGGCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATG GCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTG TGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGTAA GGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4204998	G G	GTGTGGTG others(213): Show GTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGG TGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGC GCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGCGCGGAG GAGGTGCGGCCACACCCCTAATGGCGATGTGGTGAGGCGCGGAGGAGGTG CGGCCACACCCCTAATGGCGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03491.hp1 HG03710.hp2 HG01934.hp2 HG03491.hp1 HG03710.hp2	a0005 a0007 a0026 a0005 a0007 a0026	a0005c0056 a0007c0044 a0026c0028 a0005c0056 a0007c0044 a0026c0028	a0005c0056t0006 a0007c0044t0001 a0026c0028t0049 a0005c0056t0006 a0007c0044t0001 a0026c0028t0049	a0005c0056t0006g0098 a0007c0044t0001g0020 a0026c0028t0049g0035 a0005c0056t0006g0098 a0007c0044t0001g0020 a0026c0028t0049g0035	3	116	0.0259	220	c.509 others(237): Show c.5099-875_5099-874insGAGGCGCGGAGGAGGTGCGGCCACACCC CTAATGGCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATG GCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTG TGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGTGA GGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SHC2_chr19_411589_466033	432379	C C	CGTGAGTG others(213): Show CGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGAT CGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATTGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGG CGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	212	0.0047	220	c.111 others(239): Show c.1111-1633_1111-1632insTATCTCACTCACGATGAAGCGCCATC TGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGC CATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACAATCTCACTCACGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTC ACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432403	G G	GGGCAGAT others(213): Show GGGCAGATAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAGTTAGAGGA GGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAG AGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTG AGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGATAGAGGAGGCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0002 a0011c0022t0002	a0011c0022t0002g0184 a0011c0022t0002g0184	1	212	0.0047	220	c.111 others(239): Show c.1111-1657_1111-1656insTGGCCTCCTCTATCTCTCACTCACGA TCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTC ACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTC TAACTCTCACTCACGATCTCACGATGAAGCGCCATCTATCTGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(213): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18952.hp1 NA18995.hp1 HG02080.hp2 NA18952.hp1 NA18995.hp1	a0003 a0005 a0003 a0005	a0003c0009 a0005c0022 a0003c0009 a0005c0022	a0003c0009t0003 a0003c0009t0031 a0005c0022t0007 a0003c0009t0003 a0003c0009t0031 a0005c0022t0007	a0003c0009t0003g0035 a0003c0009t0031g0036 a0005c0022t0007g0037 a0003c0009t0003g0035 a0003c0009t0031g0036 a0005c0022t0007g0037	3	256	0.0117	220	c.165 others(237): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTATCT others(213): Show ATCTATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	198	0.0051	220	c.316 others(237): Show c.316+8017_316+8018insATCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(213): Show AATATATAAATAATAATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATTATATATAAATTATTATTTATATATAATATATAATATATAAATT ATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	366	0.0027	220	c.454 others(237): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATTATATATTATATATTATATATAAATAATA ATTTATATATTATATATTATATATAAATTATTATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(213): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATCATTATTTATATATAATATATTATATATAAATCATTATTTATATATA ATATATTATATATAAATCATTATTTATATATAATATATTATATATAAATT ATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	1	366	0.0027	220	c.454 others(237): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATAATATATTATATATAAATAATGATTTATATATAATATATTATATAT AAATAATGATTTATATATAATATATTATATATAAATAATGATTTATATAT AATATATTATATATAAATAATTATATATTATATATTATATATAAATAATA ATTTATATATTATATATTATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(213): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATTATATATAAATCATTATTTATATATAATATATTATATATAAATT ATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	366	0.0027	220	c.454 others(237): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATAATATATTATATATAAATAATGATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATTATATATTATATATTATATATAAATAATA ATTTATATATTATATATTATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(213): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAATTATTTATATATAATATATTATATATA AATTATTATTTATATATAATATATTATATATAAATTATTATTTATATATA ATATATTATATATAAATTATTATTTATATATAATATATAATATATAAATT ATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03195.hp1 HG00738.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0007 a0001c0002t0003g0004 a0001c0002t0003g0007	2	366	0.0055	220	c.454 others(237): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATAATATATTATATAT AAATAATAATTTATATATAATATATTATATATAAATAATAATTTATATAT AATATATTATATATAAATAATTATATATTATATATTATATATAAATAATA ATTTATATATTATATATTATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SKI_chr1_2223319_2315213	2282034	C C	CTGAGAAG others(213): Show CTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAG AAGACAGGTGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19007.hp1 NA18946.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0020 a0001c0001t0001g0021	2	330	0.0061	220	c.970 others(239): Show c.970-20944_970-20943insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAT AGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC17A9_chr20_62947709_62974585	62966030	A A	ATGGTGTG others(213): Show ATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGG TTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGC TCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTT GGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGG TGGTTGGGGCTCGGGTTGGCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0004 a0006c0014t0004	a0006c0014t0004g0065 a0006c0014t0004g0065	1	432	0.0023	220	c.106 others(237): Show c.1061+359_1061+360insATGGTGTGCAGGGCTGCAGTGCTCTGGC CAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCT CTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGGCTGCA GTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGCGTGGTGTGCAGGG CTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGGTTGGC	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC19A1_chr21_45507565_45547440	45531165	G G	GGGGGAGC others(213): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18983.hp1 NA18941.hp2 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0040 a0002c0002t0005g0041 a0002c0002t0005g0040 a0002c0002t0005g0041	2	318	0.0063	220	c.950 others(235): Show c.950-195_950-194insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(213): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0017 a0003c0005t0017	a0003c0005t0017g0024 a0003c0005t0017g0024	2	318	0.0063	220	c.949 others(235): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(213): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCAGGGAGGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02055.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0035 a0001c0004t0010 a0001c0004t0035	a0001c0004t0010g0241 a0001c0004t0035g0228 a0001c0004t0010g0241 a0001c0004t0035g0228	2	318	0.0063	220	c.949 others(235): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCC CTGCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC2A5_chr1_9030106_9074635	9053317	A A	ATATATTT others(213): Show ATATATTTATATATATTATATATTTATATATTATATATATTTATATATAT TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATATTATATATTTATATATTATATATA TTTATATATTATATATATTTATATATATTATATATATTATATATTTATAT ATTATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0016 a0001c0001t0024g0016	1	336	0.0030	220	c.293 others(237): Show c.293+4130_293+4131insATATATATAAATATATATAATATATAAA TATATAATATATATAATATATATAAATATATATAATATATAAATATATAT AATATATAAATATATAATATATATAATATATATAAATATATATAATATAT AAATATATAATATATATAAATATATATAATATATAAATATATAATATATA TAAATATATATAATATATAAATATATAATATATATAAATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(213): Show ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATGTACATATATACATATGTATATATGCATATATGTACATATGTACATAT ATACATATGTATATATGCATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATACAT ATATGTACATATGTACATATG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	182	0.0055	220	c.173 others(239): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATGCATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATATACATATGTATATATGCATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATACATATATGTACATATGTACATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117923697	A A	ATATACAT others(213): Show ATATACATATGTATATATACATATATGTACATATATACATATGTATATAT ACATATATGTACATATGTACATATATACATATGTATATATACATATATGT ACATATGTACATATATACATATACATATGTACATATACACATATACATAT GTATATATACATATATGTACACATGTACATATACATATGTATATATGTAC ATATGTACATATATGTATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0173 a0001c0001t0011g0173	1	182	0.0055	220	c.173 others(239): Show c.173+15800_173+15801insTACATATGTATATATACATATATGTA CATATATACATATGTATATATACATATATGTACATATGTACATATATACA TATGTATATATACATATATGTACATATGTACATATATACATATACATATG TACATATACACATATACATATGTATATATACATATATGTACACATGTACA TATACATATGTATATATGTACATATGTACATATATGTATATGTA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(213): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0242 a0002c0002t0007g0242	1	420	0.0024	220	c.183 others(239): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(213): Show ATTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTT TCTCTCTTTCTCTCTTTCTTCTTTTTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	410	0.0024	220	c.152 others(237): Show c.152-2689_152-2688insGAAAGAAAGAAAGAGAGAAAGAGAGAAA GAGAGAAAGAGAGAAAGAAAAAGAAGAAAGAGAGAAAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC9A3_chr5_465456_529449	487408	A A	ACCGTGAT others(213): Show ACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACT GACACCCACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCGC ACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGACACCCAC CACACTGACACCCACCGCACTGACACCGTGATCCCGACCGCACTGACACC CACCGCACTGACACCGTGATC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0002 a0002c0005t0016g0002	1	218	0.0046	220	c.675 others(235): Show c.675+907_675+908insGATCACGGTGTCAGTGCGGTGGGTGTCAGT GCGGTCGGGATCACGGTGTCAGTGCGGTGGGTGTCAGTGTGGTGGGTGTC AGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGGTGTCAGTGCGGTGGGT GTCAGTGCGGTCTGGATCACGGTGTCAGTGTGGTGGGTGTCAGTGCGGTG GGTGTCAGTGTGGTGGGTGTCAGTGCGGTCTGGATCACGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	492082	A A	AGGGAGGG others(213): Show AGGGAGGGAGGTCAGGGCCGGGCTGTGAGGGAGGGGAGGGAGGTCAGGGC CGGGCTGTGAGGGAGGGGAGGGAGGTGTGGGGACTCGTGGGGGAGGGGAG GAAGGTGTGGGGACTCACAGGGGAGGGGAGGGAGGTCAGGGCCGGGCTGT GAGGGAGGGGAGGGAGGTCAGGGCCGGGCTGTGAGGGAGGGGAGGGAGGT CAGGGCCGGGCTGTGAGGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	218	0.0046	220	c.212 others(233): Show c.212-12_212-11insCTCCCTCACAGCCCGGCCCTGACCTCCCTCCC CTCCCTCACAGCCCGGCCCTGACCTCCCTCCCCTCCCTCACAGCCCGGCC CTGACCTCCCTCCCCTCCCCTGTGAGTCCCCACACCTTCCTCCCCTCCCC CACGAGTCCCCACACCTCCCTCCCCTCCCTCACAGCCCGGCCCTGACCTC CCTCCCCTCCCTCACAGCCCGGCCCTGACCTCCCTCCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850388	A A	ATTATGTA others(213): Show ATTATGTATAATATATATATTATATATATTATGTATAATATATATTATAT ATTATATATATATTATATATATTATGTATAATATATATTTTATATATTAT ATATATTATGTATAATATATATTTTATATATTATATATATTATGTATAAT ATATATTATATATTATATATATTATGTATAATATATATTATATATTATAT ATATTATGTATAATATATATT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0129 a0001c0001t0020 a0001c0001t0129	a0001c0001t0020g0192 a0001c0001t0129g0190 a0001c0001t0020g0192 a0001c0001t0129g0190	2	310	0.0065	220	c.784 others(235): Show c.784+885_784+886insAATATATATTATACATAATATATATAATAT ATAATATATATTATACATAATATATATAATATATAATATATATTATACAT AATATATATAATATATAAAATATATATTATACATAATATATATAATATAT AAAATATATATTATACATAATATATATAATATATATATAATATATAATAT ATATTATACATAATATATATAATATATATATTATACATAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(213): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTATATATTATATATATTATG TATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02165.hp2 NA18945.hp1 others(4): Show HG01123.hp1 HG02165.hp2 NA18945.hp1 NA18974.hp1 NA18986.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 a0001c0001t0068 a0001c0001t0076 a0001c0001t0257	a0001c0001t0001g0206 a0001c0001t0005g0260 a0001c0001t0005g0282 others(4): Show a0001c0001t0001g0206 a0001c0001t0005g0260 a0001c0001t0005g0282 a0001c0001t0033g0262 a0001c0001t0068g0261 a0001c0001t0076g0289 a0001c0001t0257g0309	7	310	0.0226	220	c.784 others(235): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAATATATATTATACATAATATATATAATATATAAAATATA TATTATACATAATATATAATATATATAATATATATTATACATAATATATA TAATATATATAATATATATTATACATAATATATATAATATATATATAATA TATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNX29_chr16_11971734_12579287	12117371	T T	TGCGGACG others(213): Show TGCGGACGAACCATGGAAACAGGCGTGGTCAATACGTGCTTCAACGTGGA TGAACCGTGGAAACAGGCATGGTCAATACGTGCTTCAATGCGGACGAACT GTGGAAACAGGCGTGGTCAATACGTGCTTCAACGCGGATGAACCGTGGAA ACAGGCATGGTCAATACGTGCTTCAATGCGGACGAACCGTGGAAACAGGC GTGGTCAATACGTGCTTCAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02622.hp2 others(3): Show HG02258.hp1 HG02559.hp2 HG02622.hp2 HG03098.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0087 a0001c0002t0107 others(3): Show a0001c0001t0002 a0001c0002t0087 a0001c0002t0107 a0001c0003t0002 a0001c0003t0054 a0001c0004t0099	a0001c0001t0002g0065 a0001c0002t0087g0147 a0001c0002t0107g0069 others(3): Show a0001c0001t0002g0065 a0001c0002t0087g0147 a0001c0002t0107g0069 a0001c0003t0002g0119 a0001c0003t0054g0117 a0001c0004t0099g0125	6	176	0.0341	220	c.140 others(239): Show c.1403-9251_1403-9250insATGGAAACAGGCGTGGTCAATACGTG CTTCAACGTGGATGAACCGTGGAAACAGGCATGGTCAATACGTGCTTCAA TGCGGACGAACTGTGGAAACAGGCGTGGTCAATACGTGCTTCAACGCGGA TGAACCGTGGAAACAGGCATGGTCAATACGTGCTTCAATGCGGACGAACC GTGGAAACAGGCGTGGTCAATACGTGCTTCAACGCGGACGAACC	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX6_chr14_34556093_34635148	34557535	C C	CTTCTTCT others(213): Show CTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	322	0.0031	220	c.55 others(231): Show c.5586_*5587insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3557		chr14	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(213): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATTTATATATATAAATATATATATATAAATATATATATTTAT ATATATAAATATATATATATAAATATATATATATTTATATATATAAATAT ATATATATAAATATATATATATTTATATATATAAATATATATATATTTAT ATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0368 a0001c0002t0001g0368	1	382	0.0026	220	c.159 others(237): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATTTATATATATAAATATATATATATAAATA TATATATTTATATATATAAATATATATATATAAATATATATATATTTATA TATATAAATATATATATATAAATATATATATATTTATATATATAAATATA TATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448870	C C	CCCTCCCT others(213): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTT CCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTT TTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG01243.hp2 HG02622.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0022 a0004c0007t0015 a0001c0003t0022 a0004c0007t0015	a0001c0003t0022g0043 a0004c0007t0015g0166 a0001c0003t0022g0043 a0004c0007t0015g0166	2	168	0.0119	220	c.548 others(239): Show c.548+52519_548+52520insCCTCCCTCCCTCCCTCCCTTCCTCTC TTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCT CTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGAGTG others(213): Show AGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	420	0.0024	220	c.35 others(231): Show c.3592_*3593insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2598		chr9	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(213): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	260	0.0039	220	c.138 others(239): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPTSSA_chr14_34427788_34467240	34443516	T T	TGTGTGTG others(213): Show TGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCCTCTCAT TACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCC TCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGTTTTC CTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	344	0.0029	220	c.113 others(237): Show c.113-8213_113-8212insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAACACACACACACACACACACACACACACACACACACACAC ACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAG GTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAG GAAACTCCATCTCAAAACACACACAAACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	641973	G G	GGGGGGGC others(213): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGTCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGCGCCCAGCGGGGGTGG GGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	2	422	0.0047	220	c.67 others(231): Show c.6740_*6741insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCGCCCCCCCAGGCAACCCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGAC CCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4641		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(213): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	202	0.0050	220	c.262 others(239): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(213): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19091.hp2 NA19007.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	202	0.0099	220	c.262 others(239): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(213): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02735.hp2 homoSapiens_chm13v2.hp1 HG02109.hp2 HG02735.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0032 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0032	3	202	0.0149	220	c.262 others(239): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK32C_chr10_132202492_132312950	132251789	A A	AACACCCT others(213): Show AACACCCTACACCTCCTGGGGCCTCCGACCCTCCACTACCCACCACAGGC AGGTCAACGCCCTACGCCTCCTGGGGCCTCAGACCCTCCACTACCCACCA CAGGCAGGTCAATGCCCTACACCTCCTGGGGCCTCAGACCCTCCACTACT CACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCA CTACTCACCACAGGCAGGTCG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	368	0.0027	220	c.263 others(237): Show c.263-5835_263-5834insCGACCTGCCTGTGGTGAGTAGTGGAGGG TCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGCCTGTGGTGAGTAGTG GAGGGTCTGAGGCCCCAGGAGGTGTAGGGCATTGACCTGCCTGTGGTGGG TAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCGTTGACCTGCCTGTG GTGGGTAGTGGAGGGTCGGAGGCCCCAGGAGGTGTAGGGTGT	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SYNPR_chr3_63273308_63621924	63314006	C C	CATATATA others(213): Show CATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	246	0.0041	220	c.84+ others(237): Show c.84+35357_84+35358insCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATATCCATATATATATATATC	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF4_chr20_61969798_62070881	62057665	G G	GGGGGGCC others(213): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACC AGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp1 HG01496.hp2 others(24): Show HG01106.hp1 HG01256.hp1 HG01496.hp2 HG01515.hp2 HG02129.hp2 HG02132.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18957.hp1 NA18966.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA19000.hp2 NA19002.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0028 a0002c0022 others(1): Show a0001c0002 a0001c0028 a0002c0022 a0006c0012	a0001c0002t0001 a0001c0002t0009 a0001c0028t0001 others(2): Show a0001c0002t0001 a0001c0002t0009 a0001c0028t0001 a0002c0022t0001 a0006c0012t0001	a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0232 others(24): Show a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0256 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0286 a0001c0002t0001g0290 a0001c0002t0009g0233 a0001c0028t0001g0238 a0002c0022t0001g0020 a0006c0012t0001g0308 a0006c0012t0001g0309	27	314	0.0860	220	c.136 others(239): Show c.1360+6785_1360+6786insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057739	G G	GGGGGGCC others(213): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACC AGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	314	0.0032	220	c.136 others(239): Show c.1360+6711_1360+6712insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057960	G G	GGGGGGCC others(213): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACC AGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	314	0.0032	220	c.136 others(239): Show c.1360+6490_1360+6491insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058327	G G	GGGGGCCA others(213): Show GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGG GGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACC AGGCCACAGACAATGGGGCTC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	314	0.0032	220	c.136 others(239): Show c.1360+6123_1360+6124insGAGCCCCATTGTCTGTGGCCTGGTGT GTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	62058768	C C	CGGGGGCC others(213): Show CGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	314	0.0032	220	c.136 others(239): Show c.1360+5463_1360+5682dupCGAGCCCCATTGTCTGTGGCCTGGTG TGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGA GCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAG GTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTA GACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAF5L_chr1_229588134_229631122	229628209	T T	TATACATA others(213): Show TATACATATACATATTATATATGTATATATATATTATACATATACATATT ATATATGTATATATATTATACATATACATATTATATATATATATATTATA CATATATTATATATGTATATATATCATACATATACATATTATATATGTAT ATATATCATACATATACATATTATATATGTATATATATCATACATATACA TATTATATATGTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0228 a0001c0005t0001g0228	1	376	0.0027	220	c.-23 others(231): Show c.-2329_-2328insGATATATATACATATATAATATGTATATGTATGA TATATATACATATATAATATGTATATGTATGATATATATACATATATAAT ATGTATATGTATGATATATATACATATATAATATATGTATAATATATATA TATATAATATGTATATGTATAATATATATACATATATAATATGTATATGT ATAATATATATATACATATATAATATGTATATGTAT	TAF5L	ENSG00000135801.11	transcript	ENST00000258281.7	protein_coding		2088		chr1	TogoVar

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