Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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)

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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
SDK1_chr7_3296252_4274000	3976713	G G	GGGGTCCC others(248): Show GGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0034 a0002c0030t0034	a0002c0030t0034g0083 a0002c0030t0034g0083	1	116	0.0086	255	c.199 others(274): Show c.1994+2218_1994+2219insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGCCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(248): Show CCACGCAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0005 a0002c0029t0005	a0002c0029t0005g0094 a0002c0029t0005g0094	1	116	0.0086	255	c.199 others(274): Show c.1994+2495_1994+2496insCACGCAGGGGGCCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13848511	G G	GGAAGAAG others(248): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGCAGGAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0186 a0002c0002t0003g0186	1	324	0.0031	255	c.97 others(264): Show c.973_*974insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTGCTTCTGCTTCTTCTT CTTCTTCTTCTTCTTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		735		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(248): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATTCCATATATATATATATTCCATATATATATATAT ATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	324	0.0031	255	c.115 others(272): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77484775	G G	GTGATTGT others(248): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01261.hp2 HG01069.hp2 HG01071.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0029 a0001c0001t0013 a0001c0001t0029	a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0029g0117 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0029g0117	3	150	0.0200	255	c.913 others(272): Show c.913+2442_913+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(248): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01346.hp1 others(20): Show HG01099.hp2 HG01106.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG03471.hp1 HG06807.hp1 NA18973.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0036 a0001c0001t0047 a0001c0001t0057 a0002c0002t0025 a0002c0002t0044 a0003c0003t0002 a0003c0003t0007	a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 others(20): Show a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0005g0023 a0001c0001t0007g0026 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0009g0101 a0001c0001t0009g0143 a0001c0001t0009g0144 a0001c0001t0012g0029 a0001c0001t0019g0060 a0001c0001t0021g0090 a0001c0001t0036g0083 a0001c0001t0047g0009 a0001c0001t0057g0028 a0002c0002t0025g0071 a0002c0002t0044g0037 a0003c0003t0002g0089 a0003c0003t0002g0123 a0003c0003t0007g0003	23	150	0.1533	255	c.913 others(272): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484775	G G	GTGATTGT others(248): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01261.hp1 HG01069.hp2 HG01071.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0033 a0001c0001t0010 a0001c0001t0033	a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0033g0125 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0033g0125	3	158	0.0190	255	c.859 others(272): Show c.859+2442_859+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(248): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01346.hp1 others(21): Show HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG06807.hp2 NA18973.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0057 a0002c0002t0022 a0002c0002t0027 a0003c0003t0002 a0003c0003t0032 a0003c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0006g0019 a0001c0001t0006g0063 a0001c0001t0006g0121 a0001c0001t0016g0091 a0001c0001t0019g0002 a0001c0001t0019g0030 a0001c0001t0020g0049 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0030g0153 a0001c0001t0057g0072 a0002c0002t0022g0065 a0002c0002t0027g0053 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0032g0055 a0003c0009t0001g0017	24	158	0.1519	255	c.859 others(272): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(248): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19063.hp1 HG00621.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0026 a0001c0001t0001 a0001c0017t0026	a0001c0001t0001g0065 a0001c0017t0026g0041 a0001c0001t0001g0065 a0001c0017t0026g0041	2	256	0.0078	255	c.165 others(272): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792151	G G	GAATAGAA others(248): Show GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0040 a0003c0006t0003g0040	1	256	0.0039	255	c.165 others(272): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATACAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC22A12_chr11_64586220_64607344	64595947	G G	GAATGGAT others(248): Show GAATGGATGGATGGTTGGAATAGATGGAATGGATGGATGGATGGATGGAT GGATGGAATGGATGGATGGTTGGAATAGATGGAATGGATAGATGGATGGA TGGATGGTTTGATGGTTGAATGGATGGATGGATGGAATGGATGGATGAAT GGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAA TAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGAT GGATGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03831.hp1 HG01261.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0259 a0001c0002t0002g0253 a0001c0002t0002g0259	2	390	0.0051	255	c.830 others(272): Show c.830+2145_830+2146insATGGATGGATGGTTGGAATAGATGGAAT GGATGGATGGATGGATGGATGGATGGAATGGATGGATGGTTGGAATAGAT GGAATGGATAGATGGATGGATGGATGGTTTGATGGTTGAATGGATGGATG GATGGAATGGATGGATGAATGGAATTGATGGATGGATGGGATGGATGGAT GGATTGATGGATAGTTGGAATAGATGGAATGGATGGATGGATGGATGGTC GAATGGATAGTTGAATGGATGGATGCA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(248): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCC TCCACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0137 a0002c0005t0001g0137	1	160	0.0063	255	c.688 others(272): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	91957116	A A	AATATATA others(248): Show AATATATAGTATATAATATATATAATATATATACTATATATTATATATAA TATATAGTATATAATATATATAATATATATACTATATATTATATATATAA TATATAGTATATAATATATATAATATATATACTATATATTATATATAATA TATAGTATATAATATATATACTATATATTATATATATAATATATAGTATA TAATATATATATTATATATACTATATATTATATATATAATATATAGTATA TATAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	190	0.0053	255	c.646 others(274): Show c.646+40665_646+40666insGTATATAATATATATAATATATATAC TATATATTATATATAATATATAGTATATAATATATATAATATATATACTA TATATTATATATATAATATATAGTATATAATATATATAATATATATACTA TATATTATATATAATATATAGTATATAATATATATACTATATATTATATA TATAATATATAGTATATAATATATATATTATATATACTATATATTATATA TATAATATATAGTATATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX6_chr14_34556093_34635148	34557549	T T	TCTCCTTC others(248): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTC TTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	322	0.0031	255	c.55 others(266): Show c.5572_*5573insGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGA AGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3543		chr14	TogoVar
SORBS1_chr10_95306773_95566371	95338308	C C	CTTTCAGC others(248): Show CTTTCAGCCCACAGAGACTGAGATGCTGTAAGTTACTTGTTCCAATCACC TGGTTCCAGTGAATGCAAATAATACTTTGGATCTGGTCTATATGGCTGAT GAGAAGGTGTAAGTCTCTCTTTCAGCCTTTGTCTTCTGCAGGTCAACTTT GGCCAAGATGACTGAGGACCGCATTTGGACCATGGGATTTATGACACAGT GGTGGTACCCACACCAACAGCTTCACCCAAGAGGGGCCAACTGATAAAGG CTCTTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0034 a0002c0034t0034	a0002c0034t0034g0032 a0002c0034t0034g0032	1	300	0.0033	255	c.286 others(272): Show c.2865+570_2865+824dupCAAGAGCCTTTATCAGTTGGCCCCTCTT GGGTGAAGCTGTTGGTGTGGGTACCACCACTGTGTCATAAATCCCATGGT CCAAATGCGGTCCTCAGTCATCTTGGCCAAAGTTGACCTGCAGAAGACAA AGGCTGAAAGAGAGACTTACACCTTCTCATCAGCCATATAGACCAGATCC AAAGTATTATTTGCATTCACTGGAACCAGGTGATTGGAACAAGTAACTTA CAGCATCTCAGTCTCTGTGGGCTGAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	29/32			chr10	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GTGGAGGG others(248): Show GTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGGAGGGGGGAGGGGGAGGGG GAAGGGGGGAGGGGGAAGGGGGGAGGGGGGAGGGGGAAGGGGAGGGGGAA GGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGG GACGGGGGGGGAGGGGGGAGGGGGGGGGGAGGGGGGAGGGGGAGGGGGAG GGGGGGGAGCGGGAACGGGGGAGGGGAGAGGGGGAGGGGGAGGGGGAGGG GGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0043 a0002c0002t0026g0043	1	251	0.0040	255	c.35 others(264): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCTC CCCCGTTCCCGCTCCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCCC CTCCCCCCTCCCCCCCCGTCCCCCCTCCCCCTCCCCTCTCCCCCTTCCCC CTCCCCTTCCCCCTCCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTCCC CCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCCCTTCCC CCTCCCCCTTCCCCCTCCA	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(248): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCT CCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCC CTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	255	c.54 others(266): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(248): Show AGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGA GGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGGGAGGGGAGGGGAGGGGA GGGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGA GGGGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp2 HG01358.hp1 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0184 a0002c0002t0002g0232 a0002c0002t0001g0184 a0002c0002t0002g0232	2	260	0.0077	255	c.138 others(274): Show c.1384-5708_1384-5707insCTCCCCTCCCCCTCCCCTCCCCTCCC CCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCC CCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTTCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPTSSA_chr14_34427788_34467240	34443510	T T	TTGTGTGT others(248): Show TTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTC CTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAAC CTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGTGTGTGTTTGTGTGTGCTTTGAGATGGAGTTTTCCTCTCATTACCCA GCTGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp2 HG02572.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0028 a0001c0001t0016g0024 a0001c0001t0005g0028 a0001c0001t0016g0024	2	344	0.0058	255	c.113 others(272): Show c.113-8207_113-8206insTCCAGCTGGGTAATGAGAGGAAAACTCC ATCTCAAAGCACACACAAACACACACACATACACACACACACACACACAC ACACACACACACACACACACACACACACACACACCCTCCCCTAGAAGCAG GAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTAAGACTGTG CCATTGCACTCCAGCTGGGTAATGAGAGGAAACTCCATCTCAAAACACAC ACAAACACACACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(248): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAATTA TAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATT TAAAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAA TATAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	358	0.0028	255	c.649 others(272): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAATTT AAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTTTAAATA TTTTAATATTTATAATTTAAAATAATTAAATATTTAAAATAATTTTAAAT ATTTTAATAATTATATTTTAAAATAATTTTAAATATTTTAATATTTATAA TTTAAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(248): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATAT AATTATTAAAATATTTAAAATTATTTTAAATATTTAATTATTTTAAATTA TAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATT TAAAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAA TATAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	358	0.0028	255	c.649 others(272): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAATTT AAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTAAATATT TAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTAAAT ATTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTATAA TTTAAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TATTTTAA others(248): Show TATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAAT TATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATAT TAAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAA ATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATA TTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAAATATTTA AAATTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp2 HG01891.hp2 others(10): Show HG00323.hp2 HG01261.hp2 HG01891.hp2 HG02280.hp2 HG02300.hp1 HG03041.hp2 HG03239.hp1 HG03704.hp1 NA18941.hp2 NA18953.hp1 NA18962.hp2 NA18986.hp1 NA18995.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0020 a0001c0001 a0002c0002 a0006c0020	a0001c0001t0001 a0002c0002t0001 a0006c0020t0001 a0001c0001t0001 a0002c0002t0001 a0006c0020t0001	a0001c0001t0001g0083 a0001c0001t0001g0092 a0002c0002t0001g0084 others(10): Show a0001c0001t0001g0083 a0001c0001t0001g0092 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0334 a0006c0020t0001g0082	13	358	0.0363	255	c.649 others(272): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATATT TTAAAATAAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAA AATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT AAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAAT ATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTA AATATTTTAATATTTATAATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TATTTTAA others(248): Show TATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAAT TATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATAT TAAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAA ATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATA TTTAAAAATTTTTAAATATTTATTTTAAATTATAATTATTAAAATATTTA AAATTA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	358	0.0028	255	c.649 others(272): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATAAT TTAAAATAAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAA AATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT AAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAAT ATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTA AATATTTTAATATTTATAATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TATTTTAA others(248): Show TATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAAT TATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATAT TAAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAA ATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATT TTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAAATATTTA AAATTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	358	0.0028	255	c.649 others(272): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATATT TTAAAATAAATATTTAAAAATTTTTAAAAATTTTAATATTTATAATTTAA AATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT AAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAAT ATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTA AATATTTTAATATTTATAATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TATTTTAA others(248): Show TATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAAT TATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATAT TAAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAA ATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTTAAATA TTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAAATATTTA AAATTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	358	0.0028	255	c.649 others(272): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATATT TTAAAATAAATATTTAAAAATTTTTAAATATTTAAATATTTATAATTTAA AATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAAT AAATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAAT ATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTA AATATTTTAATATTTATAATTTAAAAT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRMS_chr20_63533489_63552749	63535794	T T	TCCTCACC others(248): Show TCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCT CACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACC TGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGC CTCCCGCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTC CCGCCCCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGC CCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0023 a0007c0010t0002g0023	1	356	0.0028	255	c.50 others(266): Show c.5023_*5024insGGGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGG AGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGG CCAGGAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAG ATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGGAGGCCAGGTGA GGACGGGGTGGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2694		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535950	G G	GCCCCCTC others(248): Show GCCCCCTCCTCTCCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCC CCCTCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCC CCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCC TCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCA CCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCTCACCTG GCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG03579.hp2 HG02258.hp2 HG02630.hp1 HG03579.hp2	a0003 a0008 a0003 a0008	a0003c0004 a0008c0011 a0003c0004 a0008c0011	a0003c0004t0002 a0008c0011t0002 a0003c0004t0002 a0008c0011t0002	a0003c0004t0002g0003 a0008c0011t0002g0021 a0003c0004t0002g0003 a0008c0011t0002g0021	3	356	0.0084	255	c.48 others(266): Show c.4867_*4868insGGAGGCCAGGTGAGGGGGGGGCGGGAGGCCAGGT GAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAG GAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAG GGGGCGGGAGGCCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGG GCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGGGCG GGAGGCCAGGAGAGGAGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2538		chr20	TogoVar
STMP1_chr7_135657514_135681416	135673402	T T	TCGAGCGC others(248): Show TCGAGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACT CCAGCCTAGGGGACAGAGCAAGACTCCGTCTCAAAAAAAAAAGGAAATGT TGACTGGAATAGTGGGTGATTAATTCCAGCTACACAGACAGTGTTCACGT GCTAGCTCCTAGCACAGTGCTAGAAGCCAGAAATCATATCAAACATGAAA GACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG03195.hp2 others(3): Show HG02280.hp2 HG03098.hp1 HG03195.hp2 NA18522.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0042 a0001c0001t0011g0044 others(2): Show a0001c0001t0011g0020 a0001c0001t0011g0042 a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0011g0091	6	392	0.0153	255	c.69+ others(268): Show c.69+596_69+597insCGAGCGCCTGTAGTCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGAAGTGGAGGTTGCAGTGAGCCAA GATCATGCCACTGCACTCCAGCCTAGGGGACAGAGCAAGACTCCGTCTCA AAAAAAAAAGGAAATGTTGACTGGAATAGTGGGTGATTAATTCCAGCTAC ACAGACAGTGTTCACGTGCTAGCTCCTAGCACAGTGCTAGAAGCCAGAAA TCATATCAAACATGAAAGACACA	STMP1	ENSG00000243317.8	transcript	ENST00000507606.3	protein_coding	2/2			chr7	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(248): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTTTA TATCATATATTTTATATATAATATATTTTATATCATATATTTTATATATA ATATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCA TATATTTTATATATAATATATTATATTTTATATCATATATTTTATATATA ATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03130.hp1 HG04184.hp1 others(2): Show HG02135.hp2 HG03130.hp1 HG04184.hp1 NA18999.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078	5	396	0.0126	255	c.52+ others(270): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATATTATATATAAAATATATGATATAAA ATATATTATATATAAAATATATGATATAAAATATATTATATATAAAATAT ATGATATAAAATATATTATATATAAAATATATGATATAAAATATATTATA TATAAAATATATGATATAAAATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SYK_chr9_90796819_90903549	90884816	C C	CATATATA others(248): Show CATATATACATATATACATATATACACATATATATGTATATATACACATA TGTGAATATGTATATATGTGTTATATATACACATATGTGTATAAGTATAT ATACATATACACATATGTGTATATACACATATGTGTATATACACATATGT GTATATGTATATATACATATACACATATGTGTATATATACATATATACAT ATACACATATGTGTATATATAACACATATATACACATATGTGTATATATA ACACAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03486.hp1 HG02965.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0038 a0001c0008t0039 a0001c0008t0037 a0001c0008t0038 a0001c0008t0039	a0001c0008t0037g0066 a0001c0008t0038g0065 a0001c0008t0039g0061 a0001c0008t0037g0066 a0001c0008t0038g0065 a0001c0008t0039g0061	3	376	0.0080	255	c.158 others(274): Show c.1582-2928_1582-2927insTACATATATACATATATACACATATA TATGTATATATACACATATGTGAATATGTATATATGTGTTATATATACAC ATATGTGTATAAGTATATATACATATACACATATGTGTATATACACATAT GTGTATATACACATATGTGTATATGTATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TECTA_chr11_121096243_121196490	121114637	C C	CCACCCAC others(248): Show CCACCCACCCATCCATCCACCTACCCACCCGCCATCCACCCACCCATCCG TCCACCTACCCACCCACCCATCCATTCACCCATCCGTCCACCTACCCACC CACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCA TCCATTCACCCATCCGTCCACCTACCCACCCACCCATCCACCCATCCATC CATCCATCTACCCACCCACCCACCCACCCATCCATTCACCTACCCACCCA CCCATT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0203 a0002c0001t0001g0203	1	348	0.0029	255	c.790 others(270): Show c.790+948_790+949insGCCATCCACCCACCCATCCGTCCACCTACC CACCCACCCATCCATTCACCCATCCGTCCACCTACCCACCCACCCACCCA CCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCATTCACC CATCCGTCCACCTACCCACCCACCCATCCACCCATCCATCCATCCATCTA CCCACCCACCCACCCACCCATCCATTCACCTACCCACCCACCCATTCACC CACCCATCCATCCACCTACCCACCC	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TEX29_chr13_111315642_111349248	111340146	T T	TTAGTGAG others(248): Show TTAGTGAGCACCGTGTGATGAAAATCATACCATTGTTGAGCAGGCTGAGG CGAGTACCCAGGAGATGATGTGAAATCATACACATGTTAGTGAGCACTGT GCTTGTTGAGTGAGGCATAGCGCTGTAGAGCATGTGCTTGTTGATGTGAG TGAGAGAGCATAACCCTGTTTGAGTGAGCACGCGTGCTTGTTGATGAAAG ATGCGAGAACCCGTGTTAGTGAGCACCTGTGCTTGGTGATGAAAATCATA CCCTTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0169 a0001c0002t0002g0169	1	416	0.0024	255	c.239 others(270): Show c.239+215_239+216insAGTGAGCACCGTGTGATGAAAATCATACCA TTGTTGAGCAGGCTGAGGCGAGTACCCAGGAGATGATGTGAAATCATACA CATGTTAGTGAGCACTGTGCTTGTTGAGTGAGGCATAGCGCTGTAGAGCA TGTGCTTGTTGATGTGAGTGAGAGAGCATAACCCTGTTTGAGTGAGCACG CGTGCTTGTTGATGAAAGATGCGAGAACCCGTGTTAGTGAGCACCTGTGC TTGGTGATGAAAATCATACCCTTGT	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS2_chr6_169210785_169258846	169242814	C C	CCGCTCCC others(248): Show CCGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCAC TGCTCCCACCTTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCAC CGCTCCCACATTCTCACCTTCCCACCTTTCCACCTTCCCACCACTCCTAC CTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACATTCCCACCT TCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCT TCCCAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02004.hp1 HG01070.hp1 HG01071.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0026 a0001c0005t0001g0321 a0001c0001t0001g0026 a0001c0005t0001g0321	3	396	0.0076	255	c.695 others(270): Show c.695-857_695-856insATGGGAAGGTGGGAGCGGTGGGAAGGTGGG AAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGA AGGTGGGAATGTGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGGAAA GGTGGGAAGGTGAGAATGTGGGAGCGGTGGGAAGGTAGGAAGGTAGGAGT GGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAT GTGGGAAGGTGGGAAGGTGGGAGCG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TH_chr11_2158929_2176815	2161706	C C	CACCCCTA others(248): Show CACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCACACACCCCTATCCCCACACCCCTGT CCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	388	0.0026	255	c.25 others(266): Show c.2526_*2527insCTGGGGACAGGGGTGTGGGGATAGGGGTGTGTGG ACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCCCGGGG ACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGATAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2222		chr11	TogoVar
TIMM22_chr17_992129_1008671	993340	C C	CCTCACAT others(248): Show CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCACACTCACATAATCCACCTCACATAATCCACCTCACATAA TCCACCCTCACATAATCCACCCCTCACATAATCCACCTCACATAATCCAC CTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACA TAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	439	0.0023	255	c.-38 others(266): Show c.-3803_-3802insCTCACATAATCCACCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCACCCACACTCACATAATCCACCTCACATA ATCCACCTCACATAATCCACCCTCACATAATCCACCCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCA CCCTCACATAATCCACCCACA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3788		chr17	TogoVar
TMPRSS6_chr22_37060436_37114713	37097701	T T	TTGTAACG others(248): Show TTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGG AGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTA ACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCA CCGTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp2 NA18957.hp2 others(2): Show HG02083.hp1 NA18948.hp2 NA18957.hp2 NA18993.hp2 NA19004.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0009 a0003c0002 a0003c0008 others(1): Show a0001c0009 a0003c0002 a0003c0008 a0010c0051	a0001c0009t0001 a0003c0002t0001 a0003c0008t0001 others(1): Show a0001c0009t0001 a0003c0002t0001 a0003c0008t0001 a0010c0051t0001	a0001c0009t0001g0031 a0001c0009t0001g0048 a0003c0002t0001g0239 others(2): Show a0001c0009t0001g0031 a0001c0009t0001g0048 a0003c0002t0001g0239 a0003c0008t0001g0049 a0010c0051t0001g0098	5	348	0.0144	255	c.336 others(270): Show c.336+714_336+715insGGACGGTGGCCCGCTCCTGCCCCTCCGTTA CAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTC CTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGG ACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGACCCGCTCTTCC CCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGGACGGT GGCCCGCTCCTGCCCCTCCGTTACA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(248): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAA TAGGGGAGGGGAGGGGAGGGAGAGAGGGGAGGAGAGGGGAGGAGAGAAGA GGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGA GGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGA GGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	320	0.0031	255	c.612 others(270): Show c.612-588_612-587insCTCCCCTCTTCTCCCCTCCCCTCTTCTCCC CTCCCCTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCC CTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCC CTCTCTCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCT CTTCTCCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGC TCTCCTCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(248): Show ATATTATATATACATTATATATATTATATATATATATATTATATATACAT TATATATATTATATATATATACATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	224	0.0045	255	c.102 others(274): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATGTATATATATATAATATATATAATGTATATATAATATATATA TATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(248): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0013 a0013	a0013c0043 a0013c0043	a0013c0043t0002 a0013c0043t0002	a0013c0043t0002g0077 a0013c0043t0002g0077	1	198	0.0051	255	c.204 others(276): Show c.2046+10359_2046+10613dupCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TUBB2B_chr6_3219277_3232653	3222276	T T	TCATCACC others(248): Show TCATCACCACCACCACCAACACTACTGCCACCACCACTATTACCATCACC ACCACTACTACCACCACCACTACCATAACCACCATCATCACCATCACCAT CATTACTGCTATTATGACCACCATCACTACCACCATTATCACCACCACCA CTAAACTACCACCACTACCTCACTGCCATCATCACCATCACCATTACTAA CATCACCATTACTAACATCACCATTATAATACTACCACCATCACTACCAC CACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	255	c.24 others(266): Show c.2474_*2475insGTGGTGGTGGTAGTGATGGTGGTAGTATTATAAT GGTGATGTTAGTAATGGTGATGTTAGTAATGGTGATGGTGATGATGGCAG TGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGATAATGGTGGTAGTGAT GGTGGTCATAATAGCAGTAATGATGGTGATGGTGATGATGGTGGTTATGG TAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATAGTGGTGGTGGCAGTA GTGTTGGTGGTGGTGGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2000		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(248): Show CACCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCATACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCCCA CACACCACACACCCCACACACACCACACCCCACACACACCACACACACAC CACACCCCACACACACCACACACCCCCCACACACACCACACCCCATACAC ACCACA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	338	0.0030	255	c.35 others(274): Show c.35+21583_*35+21584insACCACACCCCACACACACCACACACC CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCATACACACCACACACCCCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCACA CCCCACACACACCACACACACACCACACCCCACACACACCACACACCCCC CACACACACCACACCCCATACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VIPR2_chr7_159023175_159149867	159077549	G G	GCCTGTTA others(248): Show GCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAGTG TACCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAGT GTGCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAG TGTACCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACA GTGTGCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTAC AGTGTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	336	0.0030	255	c.358 others(274): Show c.358-18972_358-18971insGACACTGTAGTACCTCAAAGACATTG AACAGGGCTAGAATCTGATAACAGGCACACTGTAGTACCTCAAAGACATT GAACAGGGCTAGAATCTGATAACAGGTACACTGTAGTACCTCAAAGACAT TGAACAGGGCTAGAATCTGATAACAGGCACACTGTAGTACCTCAAAGACA TTGAACAGGGCTAGAATCTGATAACAGGTACACTGTAGTACCTCAAAGAC ATTGAACAGGGCTAGAATCTGATAACAGG	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS53_chr17_503668_719839	646444	T T	TCGGCTCC others(248): Show TCGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGG TCTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACAC ATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAA TCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCG TGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACT GGAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0007 a0001c0005t0019g0007	1	232	0.0043	255	c.608 others(272): Show c.608+6846_608+6847insGTCTCCAGTCCGTGATACGGATTAGAAA AGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTG GGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAG GAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCAG TCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACG CGGTCACGGAGATGTGTGTGGGAGCCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	646615	C C	CGGCTCCC others(248): Show CGGCTCCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGT CTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACA TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT CCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGT GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG GAGACT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0007 a0001c0005t0019g0007	1	232	0.0043	255	c.608 others(272): Show c.608+6675_608+6676insAGTCTCCAGTCCGTGATACGGATTAGAA AAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGT GGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTA GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGATCTCCA GTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC GCGGTCACAGAGATGTGTGTGGGAGCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
WASF3_chr13_26552683_26693948	26559809	T T	TTTCTTTC others(248): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0227	1	294	0.0034	255	c.-10 others(274): Show c.-109+1992_-109+1993insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDR86_chr7_151376124_151415038	151397644	A A	ATAGCGGG others(248): Show ATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGAGGA AGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGG AAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGGGCATAGCG GGAGGAAGAGGGTGTAGCGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGC GTAGCAGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAG AGGGTG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	458	0.0022	255	c.306 others(272): Show c.306-1449_306-1448insCACCCTCTTCCTCCCGCTACACCCTCTT CCTCCCGCTATGCCCTTCCTCCTGCTACGCCCTCTTCCTCCCGCTACACC CTCTTCCTCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCACTA CACCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCTCTTCCTCC CGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACACCCTCTTCC TCCCGCTACACCCTCTTCCTCCCGCTA	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
WRAP73_chr1_3625770_3655103	3643577	A A	AATGGGGT others(248): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCC CGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCC CCGGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp2 NA20300.hp1 HG03579.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0029 a0001c0001t0001g0085	3	382	0.0079	255	c.339 others(272): Show c.339+2834_339+3088dupGTCCGGGGCTCAGCGGGGCCGCTGGGTC CCCTTCCGAAGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGGT CCCCTTCCGAAGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGG TCCCCTTCCGAAGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGG GTCCCCTTCCGAAGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTG GGTCCCCTTCCGAAGGCGCGACCCCAT	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ZFR2_chr19_3799024_3874038	3820905	C C	CGGGGGAC others(248): Show CGGGGGACACAGGGACACTAGAGGTCGGGGGGACACAGGGACACCGGGGG TCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACACTAGAGG TCGGGGACACAGGGGACACTAGAGGTCGGGGGACACAGGGACACTAGAGG TCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGGACACCGGGG GTCGGGGGGACACAGGGGACACTAGAGGTCGGGGGACACAGGGACACTAG AGGTCG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0130 a0002c0002t0005g0130	1	398	0.0025	255	c.163 others(272): Show c.1631+434_1631+435insCGACCTCTAGTGTCCCTGTGTCCCCCGA CCTCTAGTGTCCCCTGTGTCCCCCCGACCCCCGGTGTCCCCTGTGTCCCC CGACCTCTAGTGTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCC CGACCTCTAGTGTCCCCTGTGTCCCCGACCTCTAGTGTCCCTGTGTCCCC CGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGGTGTCCCTGTGTCCCC CCGACCTCTAGTGTCCCTGTGTCCCCC	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(248): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGA GGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	228	0.0044	255	c.103 others(274): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCCCTCCCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTTC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCCCT CCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(248): Show CCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCCACACC CCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTC CACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACC AACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCC GCATCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	346	0.0029	255	c.181 others(276): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGAGGGGTGCGGCGCGGGG CTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGG GTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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