JoGo: Joint Open Genome and Omics Platform

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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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
SYT6_chr1_114084292_114158869	114149222	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG01517.hp1 HG00639.hp1 HG01433.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0012 a0002c0003t0004g0013 a0002c0003t0004g0014 a0002c0003t0001g0012 a0002c0003t0004g0013 a0002c0003t0004g0014	3	426	0.0070	38	c.163 others(55): Show c.163+4387_163+4388insGCGCGCACGCGCACACACACACACACAC ACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYTL3_chr6_158645054_158769871	158705645	G G	GAGGGCTG others(31): Show GAGGGCTGTAAGGTCACATAGACCTGGGGACAGGGTGAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00609.hp2 others(178): Show HG00280.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18982.hp2 NA18983.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0010 a0001c0013 others(11): Show a0001c0001 a0001c0010 a0001c0013 a0002c0002 a0002c0005 a0002c0011 a0003c0004 a0003c0006 a0003c0014 a0004c0003 a0004c0016 a0005c0007 a0007c0009 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0010t0001 a0001c0013t0001 a0002c0002t0001 a0002c0005t0001 a0002c0005t0002 a0002c0011t0001 a0003c0004t0001 a0003c0004t0005 a0003c0004t0013 a0003c0006t0001 a0003c0014t0001 a0004c0003t0001 a0004c0003t0002 a0004c0016t0001 a0005c0007t0001 a0007c0009t0001 a0010c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(178): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0003g0142 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0007g0056 a0001c0001t0008g0166 a0001c0001t0011g0059 a0001c0010t0001g0036 a0001c0013t0001g0251 a0002c0002t0001g0016 a0002c0002t0001g0057 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0131 a0002c0002t0001g0151 a0002c0002t0001g0159 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0225 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0274 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0005t0001g0001 a0002c0005t0001g0044 a0002c0005t0001g0048 a0002c0005t0001g0069 a0002c0005t0001g0124 a0002c0005t0001g0221 a0002c0005t0001g0224 a0002c0005t0001g0226 a0002c0005t0001g0253 a0002c0005t0002g0010 a0002c0011t0001g0144 a0003c0004t0001g0017 a0003c0004t0001g0049 a0003c0004t0001g0068 a0003c0004t0001g0070 a0003c0004t0001g0073 a0003c0004t0001g0132 a0003c0004t0001g0165 a0003c0004t0001g0185 a0003c0004t0001g0201 a0003c0004t0001g0202 a0003c0004t0001g0208 a0003c0004t0001g0220 a0003c0004t0001g0222 a0003c0004t0001g0270 a0003c0004t0001g0273 a0003c0004t0005g0033 a0003c0004t0013g0019 a0003c0006t0001g0058 a0003c0006t0001g0228 a0003c0006t0001g0230 a0003c0006t0001g0267 a0003c0014t0001g0047 a0004c0003t0001g0022 a0004c0003t0001g0122 a0004c0003t0001g0123 a0004c0003t0001g0126 a0004c0003t0001g0147 a0004c0003t0001g0162 a0004c0003t0001g0167 a0004c0003t0001g0168 a0004c0003t0001g0186 a0004c0003t0001g0187 a0004c0003t0001g0199 a0004c0003t0001g0200 a0004c0003t0001g0257 a0004c0003t0001g0272 a0004c0003t0002g0008 a0004c0016t0001g0163 a0005c0007t0001g0045 a0005c0007t0001g0098 a0005c0007t0001g0099 a0005c0007t0001g0189 a0007c0009t0001g0158 a0007c0009t0001g0204 a0010c0017t0001g0198	181	292	0.6199	38	c.395 others(55): Show c.395-1582_395-1545dupGGCTGTAAGGTCACATAGACCTGGGGAC AGGGTGACAG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158705665	G G	GACCTGGG others(31): Show GACCTGGGGACAGGGTGACAGGGCTGTAAGGTCACATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	292	0.0034	38	c.395 others(55): Show c.395-1545_395-1544insGGCTGTAAGGTCACATACACCTGGGGAC AGGGTGACAG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB2_chr6_149312712_149416607	149358640	C C	CTGTGTGT others(31): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0207	1	366	0.0027	38	c.-89 others(57): Show c.-89-11236_-89-11235insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	TAB2	ENSG00000055208.20	transcript	ENST00000637181.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAB3_chrX_30822442_30894254	30868316	T T	TATATATA others(31): Show TATATATATAAGCTTTTATATATATATAGCTTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	302	0.0033	38	c.-27 others(55): Show c.-279-768_-279-767insTATATATAAGCTATATATATATAAAAGC TTATATATAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0105 a0001c0001t0001g0006 a0001c0001t0001g0105	2	282	0.0071	38	c.584 others(57): Show c.584+25714_584+25715insAAAAAATATATATATATATATATATA TATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	282	0.0036	38	c.584 others(57): Show c.584+25714_584+25715insAAAAAAAATATATATATATATATATA TATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TACR2_chr10_69398903_69421918	69409896	T T	TATATATA others(31): Show TATATATATATATACATATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02074.hp1 HG01934.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0146 a0002c0002t0004g0188 a0002c0002t0001g0146 a0002c0002t0004g0188	2	382	0.0052	38	c.588 others(53): Show c.588-822_588-821insGTATATATATATATATGTATATATGTATAT ATATATAT	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	2/4			chr10	TogoVar
TAF11L2_chr5_17493231_17503827	17493385	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG00738.hp2 others(29): Show HG00423.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01255.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01952.hp2 HG02004.hp1 HG02056.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 NA18943.hp1 NA18959.hp2 NA18963.hp1 NA18982.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19065.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0012 a0008c0010	a0001c0001t0000 a0001c0002t0000 a0001c0003t0000 others(3): Show a0001c0001t0000 a0001c0002t0000 a0001c0003t0000 a0001c0005t0000 a0005c0012t0000 a0008c0010t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 others(3): Show a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 a0001c0005t0000g0000 a0005c0012t0000g0000 a0008c0010t0000g0000	32	399	0.0802	38	c.-48 others(49): Show c.-4846_-4845insATATATATATATATATATATATATATATATATAT ATAT	TAF11L2	ENSG00000284373.1	transcript	ENST00000639081.1	protein_coding		4845		chr5	TogoVar
TAF4_chr20_61969798_62070881	61982068	C C	CAACCCAC others(31): Show CAACCCACACCCACCGGAGAGGAGACATCAAACCCACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp1 others(61): Show HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp2 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp1 HG03239.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19066.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0011 a0018	a0001c0001 a0001c0013 a0002c0006 others(7): Show a0001c0001 a0001c0013 a0002c0006 a0002c0031 a0003c0007 a0003c0036 a0007c0016 a0009c0034 a0011c0033 a0018c0018	a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0013t0001 a0002c0006t0001 a0002c0006t0011 a0002c0031t0001 a0003c0007t0001 a0003c0036t0001 a0007c0016t0001 a0009c0034t0001 a0011c0033t0001 a0018c0018t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(61): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0013t0001g0312 a0001c0013t0001g0313 a0001c0013t0001g0314 a0002c0006t0001g0293 a0002c0006t0001g0294 a0002c0006t0001g0295 a0002c0006t0001g0297 a0002c0006t0001g0298 a0002c0006t0001g0299 a0002c0006t0001g0301 a0002c0006t0011g0300 a0002c0031t0001g0296 a0003c0007t0001g0014 a0003c0007t0001g0016 a0003c0007t0001g0017 a0003c0007t0001g0018 a0003c0036t0001g0311 a0007c0016t0001g0302 a0007c0016t0001g0303 a0009c0034t0001g0306 a0011c0033t0001g0305 a0018c0018t0001g0009	64	314	0.2038	38	c.309 others(57): Show c.3091-5734_3091-5733insTTGTGGGTTTGATGTCTCCTCTCCGG TGGGTGTGGGTT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF6L_chr11_62766396_62792342	62779976	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	350	0.0029	38	c.531 others(55): Show c.531+1014_531+1015insATATATATATATATATATATATATATAA TTTTTTTTTT	TAF6L	ENSG00000162227.8	transcript	ENST00000294168.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF6L_chr11_62766396_62792342	62779976	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	350	0.0029	38	c.531 others(55): Show c.531+1014_531+1015insATATATATATATATATATATATATATAT ATTTTTTTTT	TAF6L	ENSG00000162227.8	transcript	ENST00000294168.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAFA1_chr3_67999247_68550621	68370480	A A	ATATATAT others(31): Show ATATATATATATGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	156	0.0064	38	c.119 others(57): Show c.119-46789_119-46788insGTATATATATATATATATATATATAC GTATATATATAT	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA1_chr3_67999247_68550621	68370482	A A	ATATATAT others(31): Show ATATATATATATGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	156	0.0064	38	c.119 others(57): Show c.119-46787_119-46786insGTATATATATATATATATATATATAC GTATATATATAT	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48679747	C C	CCCCGTCC others(31): Show CCCCGTCCATCCCTCTCCCGTCTCCCCGTCCATCCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	258	0.0039	38	c.263 others(57): Show c.263-27967_263-27966insGTCCATCCCTCTCCCGTCTCCCCGTC CATCCCTCTCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736257	C C	CCCCCCAG others(31): Show CCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp1 HG03471.hp2 others(1): Show HG02559.hp2 HG02809.hp1 HG03471.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013	a0001c0001t0004g0189 a0001c0001t0007g0023 a0001c0001t0013g0049 others(1): Show a0001c0001t0004g0189 a0001c0001t0007g0023 a0001c0001t0013g0049 a0001c0001t0013g0163	4	258	0.0155	38	c.391 others(57): Show c.391-13579_391-13578insCCAGGAGGAATGAGAATCGCACTCCT AGGGTCCCTCCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736491	C C	CCCCCCAG others(31): Show CCCCCCAGGAGGAATGAGAATCGCACTCCTAGAGTCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	258	0.0039	38	c.391 others(57): Show c.391-13329_391-13328insTCGCACTCCTAGAGTCCCTCCCCCAG GAGGAATGAGAA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48736491	C C	CCCCCCAG others(31): Show CCCCCCAGGAGGAATGAGAATCGCACTCCTAGGGTCCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0141 a0001c0001t0031g0141	1	258	0.0039	38	c.391 others(57): Show c.391-13329_391-13328insTCGCACTCCTAGGGTCCCTCCCCCAG GAGGAATGAGAA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TANC1_chr2_158963640_159237659	159062973	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0153 a0001c0001t0012g0153	1	258	0.0039	38	c.-15 others(55): Show c.-15-2901_-15-2900insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
TANC2_chr17_62961235_63432703	63055988	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	266	0.0038	38	c.68- others(55): Show c.68-17954_68-17953insTATATATATATATATATATATATATATA TATATATATA	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TANC2_chr17_62961235_63432703	63055990	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0220 a0001c0001t0015g0220	1	266	0.0038	38	c.68- others(55): Show c.68-17952_68-17951insAAAAAAAAAATATATATATATATATATA TATATATATA	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01928.hp1 HG02273.hp1 others(2): Show HG00741.hp1 HG01928.hp1 HG02273.hp1 HG02809.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0014 a0001c0001t0055 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0055 a0001c0004t0001	a0001c0001t0007g0244 a0001c0001t0014g0278 a0001c0001t0014g0293 others(2): Show a0001c0001t0007g0244 a0001c0001t0014g0278 a0001c0001t0014g0293 a0001c0001t0055g0264 a0001c0004t0001g0222	5	326	0.0153	38	c.204 others(53): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234392032	G G	GCAGGTAT others(31): Show GCAGGTATGAGCAGGAGTCAGGGTAAACTGTAAAACAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0254 a0006c0013t0002g0254	1	274	0.0037	38	c.469 others(55): Show c.4698-325_4698-288dupTCTGTTTTACAGTTTACCCTGACTCCTG CTCATACCTG	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	29/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397626	T T	TGGGGGAA others(31): Show TGGGGGAAGAGGGGAGGGGGAGGGGGAAGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19068.hp1 NA18994.hp2 NA19068.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0187 a0007c0008t0001g0202 a0007c0008t0001g0187 a0007c0008t0001g0202	2	274	0.0073	38	c.424 others(55): Show c.4243+718_4243+755dupCTCCTCCCCTCTTCCCCCTCCCCCTCCC CTCTTCCCCC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARM1_chr19_54064895_54086365	54080123	G G	GAAGAAAG others(31): Show GAAGAAAGAAAGAAAGAAAGAAAAGACAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	409	0.0024	38	c.34+ others(53): Show c.34+1183_34+1184insTTCTTTCTTTCTGTCTTTTCTTTCTTTCTT TCTTTCTT	TARM1	ENSG00000248385.8	transcript	ENST00000432826.2	protein_coding	1/4			chr19	TogoVar
TAS2R10_chr12_10820219_10831358	10821125	A A	ATATCTTA others(31): Show ATATCTTATACATATATATATCTTATACATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	38	c.42 others(49): Show c.4220_*4221insGATATATATATGTATAAGATATATATATGTATAA GATA	TAS2R10	ENSG00000121318.3	transcript	ENST00000240619.3	protein_coding		4093		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9633294	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA20300.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0005g0000	2	458	0.0044	38	c.-32 others(49): Show c.-3263_-3262insTATATATATATATATATATATATATATATATATA TATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2944		chr5	TogoVar
TAS2R43_chr12_11086287_11097313	11091115	C C	CACACATA others(31): Show CACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	200	0.0050	38	c.18 others(47): Show c.184_*185insATATATATATATATATATATATATATATATATATGT GT	TAS2R43	ENSG00000255374.3	transcript	ENST00000531678.1	protein_coding		171		chr12	TogoVar
TASL_chrX_30553809_30582766	30571246	G G	GAGAAAGA others(31): Show GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03239.hp1 others(2): Show HG01516.hp1 HG01517.hp2 HG03239.hp1 NA18947.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0196	5	318	0.0157	38	c.-2+ others(53): Show c.-2+5505_-2+5506insTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(31): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03540.hp1 others(3): Show HG02622.hp1 HG02809.hp1 HG03540.hp1 HG03927.hp2 NA18965.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0062 a0001c0001t0001g0210 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0210 a0001c0001t0001g0253 a0001c0001t0003g0211 a0001c0003t0001g0078 a0001c0003t0006g0249	6	318	0.0189	38	c.-2+ others(53): Show c.-2+5495_-2+5496insTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(31): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0003g0070 a0001c0001t0001g0145 a0001c0001t0003g0070	2	318	0.0063	38	c.-2+ others(53): Show c.-2+5495_-2+5496insTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TATDN2_chr3_10243459_10286218	10257294	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18980.hp2 NA18747.hp2 NA18980.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0080 a0004c0004t0002g0119 a0004c0004t0002g0080 a0004c0004t0002g0119	2	366	0.0055	38	c.415 others(55): Show c.415-2824_415-2823insATATATATATATATATATATATATATAT ATATATATAT	TATDN2	ENSG00000157014.11	transcript	ENST00000448281.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D13_chr9_128782253_128815430	128789812	T T	TATATATA others(31): Show TATATATATATATATATATATATATGTATGTATGTATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0280 a0001c0003t0028g0280	1	398	0.0025	38	c.98- others(51): Show c.98-922_98-921insTATATATATATATATATATATATGTATGTATG TATAAA	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D13_chr9_128782253_128815430	128808408	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 NA18980.hp1 HG03139.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0048 a0001c0003t0048 a0001c0001t0048 a0001c0003t0048	a0001c0001t0048g0007 a0001c0003t0048g0090 a0001c0001t0048g0007 a0001c0003t0048g0090	2	398	0.0050	38	c.54 others(47): Show c.540_*577dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	TBC1D13	ENSG00000107021.16	transcript	ENST00000372648.10	protein_coding	12/12	578	INFO_REALIGN_3_PRIME	chr9	TogoVar
TBC1D14_chr4_6904826_7038114	6977077	C C	CTCCTCTC others(31): Show CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp2 others(18): Show HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG02148.hp2 HG02486.hp2 HG02896.hp1 HG02897.hp1 NA18945.hp1 NA18961.hp1 NA18983.hp1 NA18987.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp2 NA19060.hp1 NA19064.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 a0001c0001t0001 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0025g0094 a0001c0001t0026g0118	21	304	0.0691	38	c.843 others(55): Show c.843+9655_843+9656insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCCACGGTC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(31): Show TCCCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02280.hp2 HG02602.hp2 others(3): Show HG00642.hp2 HG02280.hp2 HG02602.hp2 HG04184.hp2 NA19030.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010	a0001c0001t0015 a0001c0001t0022 a0001c0001t0051 others(3): Show a0001c0001t0015 a0001c0001t0022 a0001c0001t0051 a0001c0005t0051 a0001c0006t0006 a0001c0010t0035	a0001c0001t0015g0232 a0001c0001t0022g0215 a0001c0001t0051g0281 others(3): Show a0001c0001t0015g0232 a0001c0001t0022g0215 a0001c0001t0051g0281 a0001c0005t0051g0093 a0001c0006t0006g0175 a0001c0010t0035g0176	6	334	0.0180	38	c.10 others(51): Show c.10893_*10894insGAGAGGGGAGAGGAGGGGAGAGGAGGGGAGGG GAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCTCCTCC others(31): Show TCTCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG00741.hp1 others(51): Show HG00423.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02109.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA18952.hp2 NA18983.hp1 NA19004.hp1 NA19010.hp1 NA19055.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0004 a0012 others(1): Show a0001 a0004 a0012 a0015	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0001c0026 a0004c0013 a0004c0018 a0012c0029 a0015c0017	a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 others(40): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0039 a0001c0001t0042 a0001c0001t0096 a0001c0001t0097 a0001c0001t0102 a0001c0001t0108 a0001c0001t0126 a0001c0001t0127 a0001c0001t0130 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0026 a0001c0002t0034 a0001c0002t0050 a0001c0002t0095 a0001c0002t0110 a0001c0003t0004 a0001c0003t0018 a0001c0003t0042 a0001c0003t0043 a0001c0003t0081 a0001c0003t0106 a0001c0003t0107 a0001c0004t0034 a0001c0005t0007 a0001c0005t0008 a0001c0005t0039 a0001c0005t0129 a0001c0010t0111 a0001c0026t0140 a0004c0013t0099 a0004c0018t0007 a0012c0029t0050 a0015c0017t0018	a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(51): Show a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0293 a0001c0001t0008g0161 a0001c0001t0008g0290 a0001c0001t0008g0294 a0001c0001t0010g0187 a0001c0001t0013g0297 a0001c0001t0022g0051 a0001c0001t0026g0326 a0001c0001t0027g0029 a0001c0001t0027g0139 a0001c0001t0029g0110 a0001c0001t0029g0298 a0001c0001t0039g0114 a0001c0001t0042g0267 a0001c0001t0096g0285 a0001c0001t0097g0329 a0001c0001t0102g0292 a0001c0001t0108g0019 a0001c0001t0126g0331 a0001c0001t0127g0318 a0001c0001t0130g0208 a0001c0002t0005g0119 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0008g0332 a0001c0002t0026g0302 a0001c0002t0034g0194 a0001c0002t0050g0144 a0001c0002t0095g0300 a0001c0002t0110g0074 a0001c0003t0004g0245 a0001c0003t0018g0052 a0001c0003t0018g0157 a0001c0003t0018g0183 a0001c0003t0042g0260 a0001c0003t0043g0003 a0001c0003t0043g0004 a0001c0003t0081g0005 a0001c0003t0106g0058 a0001c0003t0107g0030 a0001c0004t0034g0319 a0001c0005t0007g0099 a0001c0005t0008g0098 a0001c0005t0039g0102 a0001c0005t0129g0220 a0001c0010t0111g0320 a0001c0026t0140g0228 a0004c0013t0099g0327 a0004c0018t0007g0325 a0012c0029t0050g0109 a0015c0017t0018g0141	54	334	0.1617	38	c.10 others(51): Show c.10893_*10894insGGGAGGAGAGGGGAGAGGAGGGGAGAGGAGGG GAGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929970	T T	TCCCCTCC others(31): Show TCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02717.hp1 HG02922.hp1 others(2): Show HG01496.hp2 HG02717.hp1 HG02922.hp1 NA18947.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0041 a0001c0002t0052 others(1): Show a0001c0001t0019 a0001c0001t0041 a0001c0002t0052 a0001c0002t0101	a0001c0001t0019g0104 a0001c0001t0041g0278 a0001c0001t0041g0280 others(2): Show a0001c0001t0019g0104 a0001c0001t0041g0278 a0001c0001t0041g0280 a0001c0002t0052g0270 a0001c0002t0101g0317	5	334	0.0150	38	c.10 others(51): Show c.10888_*10889insGGGAGGAGAGGGGAGAGGAGGGGAGAGGAGGG GAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2372		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46968558	A A	AGAGCGTC others(31): Show AGAGCGTCCTCACTGCGTGGCCGGCGGTCCTGAGTGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	112	0.0089	38	c.101 others(57): Show c.1016-5731_1016-5730insAGCGTCCTCACTGCGTGGCCGGCGGT CCTGAGTGGGCG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47029170	A A	AGCTTCCA others(31): Show AGCTTCCATACCCCTTCCCATGGGGCCCAGGGACACAGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp1 others(65): Show HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18980.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0002c0003t0003 a0002c0003t0009 a0003c0007t0001 a0004c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 others(65): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0003g0031 a0001c0001t0003g0035 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0045 a0001c0001t0004g0053 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0093 a0001c0001t0004g0101 a0001c0001t0005g0002 a0001c0001t0005g0050 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0006g0108 a0001c0001t0006g0110 a0001c0001t0007g0077 a0001c0001t0007g0082 a0001c0001t0007g0095 a0001c0001t0008g0044 a0001c0001t0009g0043 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0011g0023 a0001c0001t0012g0062 a0001c0001t0014g0065 a0001c0001t0015g0006 a0001c0001t0018g0089 a0001c0001t0019g0109 a0001c0001t0020g0038 a0001c0002t0001g0001 a0001c0002t0005g0011 a0002c0003t0003g0028 a0002c0003t0009g0034 a0003c0007t0001g0064 a0004c0005t0001g0066	68	112	0.6071	38	c.120 others(57): Show c.1202-7887_1202-7886insTCCCATGGGGCCCAGGGACACAGCGC TTCCATACCCCT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47029170	A A	AGCTTCCA others(31): Show AGCTTCCATACCCCTTCCCATGGGGCCCAGGGACACAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02809.hp2 others(6): Show HG02451.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023	a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0037 others(6): Show a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0037 a0001c0001t0005g0041 a0001c0001t0005g0055 a0001c0001t0006g0112 a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0023g0103	9	112	0.0804	38	c.120 others(57): Show c.1202-7887_1202-7886insTCCCATGGGGCCCAGGGACACAGTGC TTCCATACCCCT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992795	G G	GCCCCCCC others(31): Show GCCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0068 a0001c0002t0016g0068	1	280	0.0036	38	c.53 others(49): Show c.5364_*5365insGGCGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGG GGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2189		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCA others(31): Show TCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02027.hp1 HG02129.hp2 others(1): Show HG00609.hp2 HG02027.hp1 HG02129.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0038 a0001c0001t0012 a0001c0001t0038	a0001c0001t0012g0006 a0001c0001t0012g0181 a0001c0001t0038g0175 a0001c0001t0012g0006 a0001c0001t0012g0181 a0001c0001t0038g0175	4	280	0.0143	38	c.52 others(49): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGG GGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCA others(31): Show TCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG03710.hp1 HG01123.hp2 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0014 a0002c0003 a0002c0014	a0002c0003t0001 a0002c0014t0001 a0002c0003t0001 a0002c0014t0001	a0002c0003t0001g0233 a0002c0014t0001g0253 a0002c0003t0001g0233 a0002c0014t0001g0253	2	280	0.0071	38	c.52 others(49): Show c.5288_*5289insGAGTGGGGGGAGTGGGGGGAGTGGGGGGGAGTGG GGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(31): Show TCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	280	0.0036	38	c.52 others(49): Show c.5288_*5289insGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGG GGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992871	T T	TCCCCCCC others(31): Show TCCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	280	0.0036	38	c.52 others(49): Show c.5288_*5289insGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGG GGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2113		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	78040882	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0256 a0002c0003t0001g0256	1	280	0.0036	38	c.683 others(55): Show c.683+4017_683+4018insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding	3/12			chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192066	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0215 a0001c0003t0015g0215	1	292	0.0034	38	c.257 others(59): Show c.2570+13008_2570+13009insTATATATATATATATATATATATA TATATATATATATA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121198226	A A	AATATATA others(31): Show AATATATATAAATATATATATTATATATATATATAATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00733.hp1 others(3): Show HG00280.hp1 HG00639.hp1 HG00733.hp1 HG01074.hp1 NA18964.hp1 NA19072.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0025 a0001c0003t0007 a0001c0003t0025	a0001c0003t0007g0217 a0001c0003t0007g0230 a0001c0003t0007g0233 others(3): Show a0001c0003t0007g0217 a0001c0003t0007g0230 a0001c0003t0007g0233 a0001c0003t0007g0234 a0001c0003t0007g0235 a0001c0003t0025g0231	6	292	0.0206	38	c.257 others(57): Show c.2570+6811_2570+6848dupATATTATATATATATATAATATATAT ATTTATATATAT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBC1D32_chr6_121074494_121339480	121308686	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0236 a0001c0003t0008g0236	1	292	0.0034	38	c.565 others(53): Show c.565-586_565-585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	4/31			chr6	TogoVar

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Search Results (Total: 5880 hits)