Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TFDP1_chr13_113579753_113646473	113626018	T T	TGTCCTCA others(14): Show TGTCCTCAGGTGTCTCTCACGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	348	0.0029	21	c.186 others(38): Show c.186+2752_186+2772dupGCGTCCTCAGGTGTCTCTCAC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113626095	T T	TCTCAGGT others(14): Show TCTCAGGTGTCTCTCACGTGTC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02451.hp2 HG02486.hp1 others(11): Show HG02027.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02965.hp1 HG03130.hp1 NA18522.hp2 NA18957.hp1 NA18980.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048	14	348	0.0402	21	c.186 others(38): Show c.186+2846_186+2866dupCGTGTCCTCAGGTGTCTCTCA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113626102	T T	TGTCTCTC others(14): Show TGTCTCTCACGTGTCCTCAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00621.hp2 others(13): Show HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02080.hp1 HG02083.hp2 HG03654.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18974.hp1 NA18990.hp2 NA19000.hp1 NA19064.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0297 a0001c0002t0001g0298 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302	16	348	0.0460	21	c.186 others(38): Show c.186+2836_186+2837insCGTCTCTCACGTGTCCTCAGG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP2_chr3_141939428_142154544	142075906	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 NA19030.hp1 HG01109.hp1 HG01433.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0002t0025 a0001c0002t0117 a0001c0001t0038 a0001c0002t0025 a0001c0002t0117	a0001c0001t0038g0013 a0001c0002t0025g0235 a0001c0002t0117g0234 a0001c0001t0038g0013 a0001c0002t0025g0235 a0001c0002t0117g0234	3	252	0.0119	21	c.82+ others(38): Show c.82+17154_82+17155insTTTTTTTTTTTTTTTTTTTTT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	3/12			chr3	TogoVar
TFEB_chr6_41678978_41740608	41697408	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02723.hp2 others(2): Show HG02145.hp1 HG02622.hp2 HG02723.hp2 HG03225.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0005t0001 a0001c0007t0001 a0001c0001t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0264 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0005t0001g0096 a0001c0007t0001g0261	5	406	0.0123	21	c.-22 others(38): Show c.-22-6174_-22-6173insTTTTTTTTTTTTTTTTTTTTT	TFEB	ENSG00000112561.19	transcript	ENST00000373033.6	protein_coding	1/8			chr6	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG02109.hp2 others(14): Show HG00423.hp1 HG00738.hp1 HG02109.hp2 HG02572.hp1 HG02738.hp2 HG02965.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18952.hp2 NA19003.hp2 NA19011.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0003t0001	a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0002g0046 others(14): Show a0001c0001t0001g0362 a0001c0001t0001g0365 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0267 a0001c0001t0009g0138 a0001c0001t0009g0141 a0002c0003t0001g0092	17	394	0.0432	21	c.516 others(38): Show c.516-1994_516-1974dupAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFPT_chr19_54102020_54120657	54105264	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18953.hp1 NA19030.hp1 NA18522.hp2 NA18953.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0133	3	429	0.0070	21	c.17 others(32): Show c.1765_*1785dupAAAAAAAAAAAAAAAAAAAAA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding		1755		chr19	TogoVar
TFRC_chr3_196044284_196087090	196070774	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02735.hp2 HG02273.hp1 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0280 a0002c0002t0001g0259 a0002c0002t0001g0280	2	384	0.0052	21	c.687 others(36): Show c.687+601_687+621dupATTATTATTATTATTATTATT	TFRC	ENSG00000072274.14	transcript	ENST00000360110.9	protein_coding	6/18			chr3	TogoVar
TF_chr3_133741393_133801641	133771743	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0191 a0001c0006t0191	a0001c0006t0191g0062 a0001c0006t0191g0062	1	402	0.0025	21	c.168 others(40): Show c.1687+1174_1687+1194dupAAAAAAAAAAAAAAAAAAAAA	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGFA_chr2_70442284_70558826	70459516	C C	CAAATCTG others(14): Show CAAATCTGATCAGGCACAAGAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	344	0.0029	21	c.216 others(38): Show c.216-3049_216-3029dupCTCTTGTGCCTGATCAGATTT	TGFA	ENSG00000163235.16	transcript	ENST00000295400.11	protein_coding	3/5			chr2	TogoVar
TGFBR3_chr1_91675343_91891151	91780627	T T	TGTTGCCC others(14): Show TGTTGCCCAGGCTGGAGTGCAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0150 a0001c0020t0003g0150	1	284	0.0035	21	c.246 others(40): Show c.246+16659_246+16660insTTGCACTCCAGCCTGGGCAAC	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	3/16			chr1	TogoVar
TGIF1_chr18_3445172_3464978	3448717	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG06807.hp2 NA20300.hp2 HG03486.hp2 HG06807.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0007 a0001c0002t0002 a0001c0004t0007	a0001c0002t0002g0050 a0001c0004t0007g0014 a0001c0002t0002g0050 a0001c0004t0007g0014	3	448	0.0067	21	c.-17 others(32): Show c.-1773_-1772insTTTTTTTTTTTTTTTTTTTTT	TGIF1	ENSG00000177426.22	transcript	ENST00000343820.10	protein_coding		1454		chr18	TogoVar
TGM2_chr20_38122385_38170270	38153528	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18943.hp2 NA19000.hp1 others(2): Show HG01891.hp2 NA18943.hp2 NA19000.hp1 NA19080.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0010	a0001c0001t0005 a0001c0002t0002 a0001c0002t0011 others(2): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0011 a0001c0004t0004 a0003c0010t0002	a0001c0001t0005g0131 a0001c0002t0002g0274 a0001c0002t0011g0123 others(2): Show a0001c0001t0005g0131 a0001c0002t0002g0274 a0001c0002t0011g0123 a0001c0004t0004g0243 a0003c0010t0002g0275	5	360	0.0139	21	c.433 others(38): Show c.433+2318_433+2319insCTTTTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	3/12			chr20	TogoVar
TGM2_chr20_38122385_38170270	38153528	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00741.hp1 others(22): Show HG00140.hp2 HG00642.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03471.hp1 NA18966.hp2 NA18977.hp1 NA19011.hp1 NA19068.hp1 NA19082.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0024 a0001c0027	a0001c0001t0001 a0001c0001t0005 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0006 a0001c0004t0004 a0001c0024t0001 a0001c0027t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0135 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0211 a0001c0001t0001g0280 a0001c0001t0005g0139 a0001c0002t0006g0134 a0001c0002t0006g0138 a0001c0004t0004g0007 a0001c0004t0004g0137 a0001c0004t0004g0195 a0001c0004t0004g0281 a0001c0004t0004g0282 a0001c0024t0001g0133 a0001c0027t0001g0172	25	360	0.0694	21	c.433 others(38): Show c.433+2318_433+2319insCTTTTCTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	3/12			chr20	TogoVar
TGM2_chr20_38122385_38170270	38153528	A A	AAAAAGAA others(14): Show AAAAAGAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG03516.hp2 HG02451.hp1 HG03041.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0014 a0001c0001t0001 a0001c0001t0019 a0001c0002t0014	a0001c0001t0001g0054 a0001c0001t0019g0308 a0001c0002t0014g0055 a0001c0001t0001g0054 a0001c0001t0019g0308 a0001c0002t0014g0055	3	360	0.0083	21	c.433 others(38): Show c.433+2318_433+2319insCTTTTTTTTTTTTTTTCTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	3/12			chr20	TogoVar
TGM4_chr3_44869608_44919990	44893945	A A	ACCCCCCA others(14): Show ACCCCCCATGGCTCTCTCCCAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	314	0.0032	21	c.549 others(36): Show c.549+257_549+258insTGGCTCTCTCCCACCCCCCCA	TGM4	ENSG00000163810.13	transcript	ENST00000296125.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGM7_chr15_43271271_43307255	43274802	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA20300.hp2 HG02615.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0106 a0001c0001t0001g0017 a0001c0001t0001g0106	2	342	0.0059	21	c.16 others(32): Show c.1652_*1653insTTTTTTTTTTTTTTTTTTTTT	TGM7	ENSG00000159495.8	transcript	ENST00000452443.3	protein_coding		1468		chr15	TogoVar
TGS1_chr8_55768446_55831445	55769018	T T	TTAAAAAA others(14): Show TTAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	370	0.0027	21	c.-46 others(32): Show c.-4601_-4600insTAAAAAAAAAAAAAAAAAAAA	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding		4427		chr8	TogoVar
THADA_chr2_43225851_43601038	43291454	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03130.hp1 HG06807.hp1 others(1): Show HG01981.hp2 HG03130.hp1 HG06807.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0155 a0003c0009t0001g0025	4	206	0.0194	21	c.501 others(38): Show c.5010+221_5010+241dupTTTTTTTTTTTTTTTTTTTTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	34/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43431841	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0156 a0003c0003t0001g0156	1	206	0.0049	21	c.383 others(40): Show c.3837-1560_3837-1540dupAAAAAAAAAAAAAAAAAAAAA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	26/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43489874	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02647.hp2 HG02818.hp2 others(3): Show HG01106.hp1 HG02647.hp2 HG02818.hp2 HG03704.hp2 NA19030.hp1 NA19088.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0011	a0001c0001 a0004c0005 a0007c0014 others(1): Show a0001c0001 a0004c0005 a0007c0014 a0011c0032	a0001c0001t0001 a0004c0005t0001 a0007c0014t0002 others(1): Show a0001c0001t0001 a0004c0005t0001 a0007c0014t0002 a0011c0032t0001	a0001c0001t0001g0117 a0004c0005t0001g0027 a0004c0005t0001g0166 others(3): Show a0001c0001t0001g0117 a0004c0005t0001g0027 a0004c0005t0001g0166 a0007c0014t0002g0008 a0007c0014t0002g0009 a0011c0032t0001g0122	6	206	0.0291	21	c.374 others(40): Show c.3745-4550_3745-4549insTTTTTTTTTTTTTTTTTTTTT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	25/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43515256	A A	AATATATT others(14): Show AATATATTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	206	0.0049	21	c.337 others(40): Show c.3375-6477_3375-6476insAATATATTATATATAATATAT	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37			chr2	TogoVar
THAP4_chr2_241579405_241642158	241585912	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0277 a0002c0004t0001g0277	1	390	0.0026	21	c.161 others(40): Show c.1615-1188_1615-1187insTTTTTTTTTTTTTTTTTTTTT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THBS2_chr6_169210785_169258846	169219346	G G	GGGTGGAT others(14): Show GGGTGGATGGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp2 others(83): Show HG00099.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG04184.hp1 NA18942.hp2 NA18945.hp2 NA18954.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA19003.hp1 NA19007.hp1 NA19030.hp1 NA19056.hp1 NA19066.hp1 NA19079.hp1 NA19083.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0014	a0001c0002 a0001c0003 a0001c0009 others(8): Show a0001c0002 a0001c0003 a0001c0009 a0001c0013 a0001c0014 a0001c0017 a0001c0027 a0004c0029 a0005c0025 a0007c0048 a0014c0040	a0001c0002t0002 a0001c0002t0017 a0001c0002t0022 others(15): Show a0001c0002t0002 a0001c0002t0017 a0001c0002t0022 a0001c0003t0002 a0001c0003t0024 a0001c0003t0025 a0001c0009t0002 a0001c0009t0026 a0001c0013t0002 a0001c0014t0002 a0001c0017t0002 a0001c0027t0002 a0001c0027t0038 a0004c0029t0002 a0005c0025t0002 a0005c0025t0023 a0007c0048t0002 a0014c0040t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0057 others(68): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0084 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0146 a0001c0002t0002g0159 a0001c0002t0002g0170 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0181 a0001c0002t0002g0188 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0213 a0001c0002t0002g0233 a0001c0002t0002g0286 a0001c0002t0017g0223 a0001c0002t0017g0240 a0001c0002t0022g0094 a0001c0003t0002g0001 a0001c0003t0002g0048 a0001c0003t0002g0067 a0001c0003t0002g0124 a0001c0003t0002g0193 a0001c0003t0002g0244 a0001c0003t0002g0248 a0001c0003t0002g0250 a0001c0003t0002g0259 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0002g0263 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0273 a0001c0003t0002g0278 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0284 a0001c0003t0002g0292 a0001c0003t0002g0297 a0001c0003t0024g0260 a0001c0003t0025g0265 a0001c0009t0002g0013 a0001c0009t0002g0214 a0001c0009t0002g0215 a0001c0009t0002g0216 a0001c0009t0002g0218 a0001c0009t0026g0217 a0001c0013t0002g0028 a0001c0013t0002g0302 a0001c0013t0002g0303 a0001c0014t0002g0027 a0001c0014t0002g0114 a0001c0017t0002g0039 a0001c0017t0002g0040 a0001c0017t0002g0100 a0001c0027t0002g0322 a0001c0027t0038g0346 a0004c0029t0002g0300 a0005c0025t0002g0110 a0005c0025t0023g0078 a0007c0048t0002g0287 a0014c0040t0002g0229	86	396	0.2172	21	c.351 others(38): Show c.3511+851_3511+852insTCATCCATCCATCCATCCACC	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242879	A A	ACCTTCCC others(14): Show ACCTTCCCACCTTCCCACCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0327 a0001c0005t0003g0327	1	396	0.0025	21	c.695 others(36): Show c.695-922_695-921insGAAGGTGGGAAGGTGGGAAGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS4_chr5_80030348_80088287	80080579	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 HG01106.hp2 others(12): Show HG00733.hp2 HG01099.hp1 HG01106.hp2 HG01256.hp2 HG02004.hp2 NA18948.hp2 NA18954.hp2 NA18966.hp2 NA18973.hp1 NA18981.hp2 NA19003.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0007 a0001c0002 a0001c0003 a0002c0007	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0002c0007t0002	a0001c0002t0001g0034 a0001c0002t0001g0140 a0001c0002t0001g0258 others(10): Show a0001c0002t0001g0034 a0001c0002t0001g0140 a0001c0002t0001g0258 a0001c0002t0001g0298 a0001c0002t0003g0226 a0001c0002t0003g0274 a0001c0002t0003g0281 a0001c0002t0003g0293 a0001c0003t0001g0173 a0001c0003t0006g0172 a0002c0007t0002g0026 a0002c0007t0002g0162 a0002c0007t0002g0164	15	394	0.0381	21	c.268 others(38): Show c.2684+507_2684+527dupTTTTTTTTTTTTTTTTTTTTT	THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCTT others(14): Show CTCCTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	374	0.0027	21	c.72 others(32): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3277		chr1	TogoVar
THEM6_chr8_142722223_142741927	142732207	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	414	0.0024	21	c.514 others(38): Show c.514-3119_514-3118insATATATATATATATATATATA	THEM6	ENSG00000130193.8	transcript	ENST00000336138.4	protein_coding	1/1			chr8	TogoVar
THEMIS_chr6_127703200_127906058	127730316	G G	GAAAAGAA others(14): Show GAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03927.hp1 HG01074.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0150 a0001c0003t0001g0062 a0001c0002t0002g0150 a0001c0003t0001g0062	2	223	0.0090	21	c.175 others(42): Show c.1759-10494_1759-10493insTCTTTTCTTTTCTTTTCTTTT	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127731864	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01069.hp2 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0031 a0002c0001t0001g0034 a0002c0001t0001g0031 a0002c0001t0001g0034	2	223	0.0090	21	c.175 others(42): Show c.1759-12062_1759-12042dupAAAAAAAAAAAAAAAAAAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THEMIS_chr6_127703200_127906058	127862428	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG02280.hp1 others(1): Show HG00280.hp1 HG01099.hp2 HG02280.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0001c0002t0003 a0004c0011t0001 a0001c0002t0001 a0001c0002t0003 a0004c0011t0001	a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0003g0138 others(1): Show a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0003g0138 a0004c0011t0001g0181	4	223	0.0179	21	c.92- others(36): Show c.92-7261_92-7241dupAAAAAAAAAAAAAAAAAAAAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	1/5			chr6	TogoVar
THNSL1_chr10_25011612_25031664	25027356	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01496.hp1 HG01943.hp1 others(2): Show HG00323.hp1 HG01496.hp1 HG01943.hp1 HG04204.hp1 NA18944.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0001c0002t0012 a0003c0005t0002 a0001c0002t0002 a0001c0002t0012 a0003c0005t0002	a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0012g0001 others(2): Show a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0012g0001 a0003c0005t0002g0004 a0003c0005t0002g0091	5	412	0.0121	21	c.19 others(32): Show c.1901_*1902insAAAAAAAAAAAAAAAAAAAAA	THNSL1	ENSG00000185875.13	transcript	ENST00000376356.5	protein_coding		693		chr10	TogoVar
THNSL2_chr2_88165346_88191627	88170414	T T	TCGCGCAC others(14): Show TCGCGCACCGGGCCTCGCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01934.hp1 HG00140.hp1 HG01934.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0008 a0004c0004 a0005c0008	a0004c0004t0006 a0005c0008t0006 a0004c0004t0006 a0005c0008t0006	a0004c0004t0006g0015 a0005c0008t0006g0016 a0004c0004t0006g0015 a0005c0008t0006g0016	2	54	0.0370	21	c.-50 others(28): Show c.-50_-49insACCGGGCCTCGCGCCCCGCGC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	1/9	2731	INFO_REALIGN_3_PRIME	chr2	TogoVar
THNSL2_chr2_88165346_88191627	88170414	T T	TCGCGCCC others(14): Show TCGCGCCCCGCGCCCCGCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0036 a0001c0001t0013g0036	1	54	0.0185	21	c.-37 others(28): Show c.-37_-17dupGCCCCGCGCCCCGCGCCCCGC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	1/9	2698	INFO_REALIGN_3_PRIME	chr2	TogoVar
THNSL2_chr2_88165346_88191627	88179427	C C	CACACCAC others(14): Show CACACCACCCTGACCCCGTGTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	54	0.0185	21	c.802 others(36): Show c.802+416_802+436dupCACCACCCTGACCCCGTGTGA	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
THOP1_chr19_2780503_2820807	2820684	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG03486.hp1 HG02630.hp2 HG02896.hp2 HG03486.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0002 a0001c0001t0005 a0007c0012t0002 a0001c0001t0002 a0001c0001t0005 a0007c0012t0002	a0001c0001t0002g0077 a0001c0001t0005g0006 a0007c0012t0002g0009 a0001c0001t0002g0077 a0001c0001t0005g0006 a0007c0012t0002g0009	3	370	0.0081	21	c.74 others(32): Show c.7408_*7409insTTTTTTTTTTTTTTTTTTTTT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		4878		chr19	TogoVar
THRAP3_chr1_36219443_36310357	36253760	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20129.hp1 HG02145.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0007 a0001c0001t0001 a0003c0007t0007	a0001c0001t0001g0201 a0003c0007t0007g0064 a0001c0001t0001g0201 a0003c0007t0007g0064	2	252	0.0079	21	c.-13 others(40): Show c.-134-5603_-134-5602insTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRAP3_chr1_36219443_36310357	36292256	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	252	0.0040	21	c.191 others(38): Show c.1919-339_1919-338insTTTTTTTTTTTTTTTTTTTTT	THRAP3	ENSG00000054118.15	transcript	ENST00000354618.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
THRB_chr3_24112153_24499850	24272347	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0155 a0001c0002t0015g0155	1	178	0.0056	21	c.-43 others(40): Show c.-43+24858_-43+24878dupGTTGTTGTTGTTGTTGTTGTT	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	3/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24299766	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0154 a0001c0001t0035g0154	1	178	0.0056	21	c.-18 others(40): Show c.-188-2396_-188-2395insAAAAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	2/10			chr3	TogoVar
THRB_chr3_24112153_24499850	24481229	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03491.hp2 HG02280.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0009g0173 a0001c0002t0003g0013 a0001c0001t0009g0173 a0001c0002t0003g0013	2	178	0.0112	21	c.-26 others(42): Show c.-261+13402_-261+13422dupAAAAAAAAAAAAAAAAAAAAA	THRB	ENSG00000151090.20	transcript	ENST00000646209.2	protein_coding	1/10			chr3	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0015 a0003c0010t0015	a0003c0010t0015g0002 a0003c0010t0015g0002	1	116	0.0086	21	c.101 others(42): Show c.1015+69986_1015+69987insATATATATATATATATATATA	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71326700	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0017 a0001c0002t0035g0017	1	116	0.0086	21	c.101 others(42): Show c.1015+69985_1015+69986insTATATATATATATATATATAT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17			chr15	TogoVar
THSD4_chr15_71110471_71788383	71332892	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(14): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG02300.hp1 HG02723.hp1 HG02735.hp1 HG03471.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp2 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0003c0010 a0004c0014 a0007c0022	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0003t0003 a0001c0004t0007 a0001c0004t0017 a0001c0004t0025 a0001c0006t0007 a0003c0010t0027 a0004c0014t0038 a0007c0022t0032	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0067 others(14): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0006g0021 a0001c0001t0009g0085 a0001c0001t0011g0001 a0001c0001t0012g0054 a0001c0001t0022g0056 a0001c0003t0003g0071 a0001c0004t0007g0062 a0001c0004t0017g0032 a0001c0004t0025g0069 a0001c0006t0007g0030 a0003c0010t0027g0088 a0004c0014t0038g0016 a0007c0022t0032g0014	17	116	0.1466	21	c.101 others(42): Show c.1015+76193_1015+76194insTTTTTTTTTTTTTTTTTTTTT	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD4_chr15_71110471_71788383	71341340	T T	TCTTAGGT others(14): Show TCTTAGGTGCTTTGTTCACTTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0115 a0001c0001t0018g0115	1	116	0.0086	21	c.101 others(42): Show c.1016-70346_1016-70326dupCTTAGGTGCTTTGTTCACTTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
THSD7A_chr7_11365365_11837198	11509821	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19009.hp1 NA19009.hp2 HG03516.hp2 NA19009.hp1 NA19009.hp2	a0001 a0003 a0001 a0003	a0001c0010 a0003c0004 a0003c0057 a0001c0010 a0003c0004 a0003c0057	a0001c0010t0025 a0003c0004t0004 a0003c0057t0002 a0001c0010t0025 a0003c0004t0004 a0003c0057t0002	a0001c0010t0025g0084 a0003c0004t0004g0021 a0003c0057t0002g0091 a0001c0010t0025g0084 a0003c0004t0004g0021 a0003c0057t0002g0091	3	180	0.0167	21	c.182 others(42): Show c.1823-27840_1823-27839insTTTTTTTTTTTTTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	6/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11566965	T T	TAGCGGGG others(14): Show TAGCGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00639.hp2 others(17): Show HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01261.hp2 HG01975.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03831.hp1 NA18990.hp1 NA19064.hp1 NA19084.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0018 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0041 a0002c0005 a0002c0007 a0002c0009 a0002c0019 a0004c0020 a0018c0046 a0021c0048 a0022c0051	a0001c0001t0002 a0001c0001t0015 a0001c0001t0041 others(17): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0041 a0001c0001t0052 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0003t0003 a0001c0006t0016 a0001c0010t0030 a0001c0041t0055 a0002c0005t0003 a0002c0007t0001 a0002c0009t0003 a0002c0009t0010 a0002c0019t0003 a0004c0020t0004 a0018c0046t0033 a0021c0048t0057 a0022c0051t0002	a0001c0001t0002g0055 a0001c0001t0015g0077 a0001c0001t0041g0138 others(17): Show a0001c0001t0002g0055 a0001c0001t0015g0077 a0001c0001t0041g0138 a0001c0001t0052g0064 a0001c0002t0003g0151 a0001c0002t0006g0147 a0001c0002t0007g0069 a0001c0003t0003g0088 a0001c0006t0016g0095 a0001c0010t0030g0057 a0001c0041t0055g0161 a0002c0005t0003g0133 a0002c0007t0001g0017 a0002c0009t0003g0081 a0002c0009t0010g0170 a0002c0019t0003g0116 a0004c0020t0004g0022 a0018c0046t0033g0136 a0021c0048t0057g0164 a0022c0051t0002g0093	20	180	0.1111	21	c.145 others(42): Show c.1453+23494_1453+23495insCCCCCCCCCCCCCCCCCCGCT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	4/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11706630	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0020 a0010c0026t0020	a0010c0026t0020g0010 a0010c0026t0020g0010	1	180	0.0056	21	c.191 others(40): Show c.191-69690_191-69670dupAAAAAAAAAAAAAAAAAAAAA	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7A_chr7_11365365_11837198	11778156	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18959.hp1 HG01517.hp1 NA18959.hp1	a0001 a0001	a0001c0012 a0001c0053 a0001c0012 a0001c0053	a0001c0012t0001 a0001c0053t0010 a0001c0012t0001 a0001c0053t0010	a0001c0012t0001g0013 a0001c0053t0010g0166 a0001c0012t0001g0013 a0001c0053t0010g0166	2	180	0.0111	21	c.190 others(40): Show c.190+53580_190+53600dupTTTTTTTTTTTTTTTTTTTTT	THSD7A	ENSG00000005108.17	transcript	ENST00000423059.9	protein_coding	1/27			chr7	TogoVar
THSD7B_chr2_136760545_137682718	136825718	A A	ATTTTTTT others(14): Show ATTTTTTTTTTGTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0070 a0002c0003t0001g0070	1	98	0.0102	21	c.-35 others(40): Show c.-35-56416_-35-56415insGTTTGTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar

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