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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SORCS2_chr4_7187538_7747827	7724889	TTGGTGAT others(39): Show TTGGTGATGGTGGTGATAGTATTGGTGGGAATGGATGGTGGTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0074 a0001c0029t0074	a0001c0029t0074g0162 a0001c0029t0074g0162	1	168	0.0060	-46	c.261 others(63): Show c.2612-250_2612-205delATAGTATTGGTGGGAATGGATGGTGGTA GTAGTGGTGATGGTGGTG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(39): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	212	0.0047	-46	c.810 others(63): Show c.810+8520_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(39): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	218	0.0046	-46	c.778 others(65): Show c.778-20521_778-20476delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPAG16_chr2_213279464_214415501	213913571	ATATATAT others(39): Show ATATATATGTACATGTACATATATGTATATGTACATGTACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03209.hp1 NA19030.hp1 HG02015.hp1 HG03209.hp1 NA19030.hp1	a0005 a0006 a0010 a0005 a0006 a0010	a0005c0005 a0006c0006 a0010c0007 a0005c0005 a0006c0006 a0010c0007	a0005c0005t0001 a0006c0006t0001 a0010c0007t0001 a0005c0005t0001 a0006c0006t0001 a0010c0007t0001	a0005c0005t0001g0017 a0006c0006t0001g0082 a0010c0007t0001g0083 a0005c0005t0001g0017 a0006c0006t0001g0082 a0010c0007t0001g0083	3	86	0.0349	-46	c.121 others(67): Show c.1215-16383_1215-16338delATGTACATGTACATATATGTATAT GTACATGTACATATATGTATAT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0041 a0003c0004t0001g0041	1	366	0.0027	-46	c.153 others(65): Show c.1535+1087_1535+1132delATATATATATATATATATATATATAT ATATATATATATATATATAT		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPATA31C2_chr9_88124305_88143475	88137916	ACAGAGAC others(39): Show ACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(81): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0001 a0003 a0009 others(5): Show a0001 a0003 a0009 a0024 a0025 a0027 a0028 a0031	a0001c0001 a0003c0004 a0009c0011 others(5): Show a0001c0001 a0003c0004 a0009c0011 a0024c0048 a0025c0047 a0027c0041 a0028c0045 a0031c0043	a0001c0001t0001 a0001c0001t0004 a0003c0004t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0003c0004t0002 a0009c0011t0002 a0024c0048t0002 a0025c0047t0002 a0027c0041t0001 a0028c0045t0001 a0031c0043t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 others(58): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0004g0167 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0019 a0003c0004t0002g0020 a0003c0004t0002g0041 a0003c0004t0002g0042 a0003c0004t0002g0043 a0003c0004t0002g0044 a0003c0004t0002g0132 a0003c0004t0002g0133 a0003c0004t0002g0136 a0003c0004t0002g0138 a0003c0004t0002g0140 a0003c0004t0002g0146 a0003c0004t0002g0148 a0003c0004t0002g0157 a0003c0004t0002g0158 a0003c0004t0002g0159 a0003c0004t0002g0162 a0003c0004t0002g0170 a0003c0004t0002g0171 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0179 a0003c0004t0002g0181 a0003c0004t0002g0185 a0009c0011t0002g0017 a0009c0011t0002g0149 a0009c0011t0002g0150 a0024c0048t0002g0184 a0025c0047t0002g0182 a0027c0041t0001g0165 a0028c0045t0001g0134 a0031c0043t0001g0168	84	446	0.1883	-46	c.189 others(61): Show c.189+296_189+341delGTCATGAGACGGGGGAGGTCTCTGGTCATG AGATGGGAGGTCTCTG		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3						chr9	TogoVar
SPATS2_chr12_49362462_49532425	49408585	TTGCTCTG others(39): Show TTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01192.hp1 others(16): Show HG00639.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02897.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03704.hp1 HG04184.hp2 NA18906.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0004c0002t0002	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 others(16): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0013g0056 a0004c0002t0002g0052	19	158	0.1203	-46	c.-24 others(67): Show c.-244+37299_-244+37344delTCTGCCGCCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGC		SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(39): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	216	0.0046	-46	c.-14 others(57): Show c.-1497_-1452delAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAG AGAGAGAGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(39): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02698.hp2 HG01169.hp2 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0025 a0001c0005t0005 a0001c0005t0025	a0001c0005t0005g0213 a0001c0005t0025g0216 a0001c0005t0005g0213 a0001c0005t0025g0216	2	216	0.0093	-46	c.-14 others(57): Show c.-1499_-1454delAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAG AGAGAGAGAGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(39): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0055 a0002c0004t0007g0055	1	216	0.0046	-46	c.-15 others(57): Show c.-1501_-1456delAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAG AGAGAGAGAGAG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					708		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35819434	TCACCTCT others(39): Show TCACCTCTGTGATACAGTCCAACAACAAAGATACTCAAAGAGAGGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0239 a0002c0001t0001g0239	1	268	0.0037	-46	c.48 others(57): Show c.4882_*4927delCACCTCTGTGATACAGTCCAACAACAAAGATACT CAAAGAGAGGTA		SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding					4824		chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89854674	GGCAGCCT others(39): Show GGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCGGACGCAGATGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0317 a0001c0019t0001g0317	1	356	0.0028	-46	c.891 others(59): Show c.891+36_891+81delCAGAGGTCGTGGTGAGCGGGGCGGACGCAGAT GAGCAGCCTGGATG		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00609.hp1 others(91): Show HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18945.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0066 a0001c0001t0087 a0001c0001t0088 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0107 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0116 a0001c0001t0119 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0149 a0001c0002t0028 a0001c0002t0054 a0001c0002t0139 a0001c0002t0140 a0001c0002t0141 a0001c0004t0008	a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 others(91): Show a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0170 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0003g0015 a0001c0001t0004g0101 a0001c0001t0004g0145 a0001c0001t0004g0156 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0005g0161 a0001c0001t0005g0205 a0001c0001t0009g0150 a0001c0001t0009g0157 a0001c0001t0009g0165 a0001c0001t0009g0169 a0001c0001t0010g0149 a0001c0001t0011g0111 a0001c0001t0011g0148 a0001c0001t0011g0191 a0001c0001t0012g0114 a0001c0001t0014g0158 a0001c0001t0014g0160 a0001c0001t0014g0181 a0001c0001t0016g0115 a0001c0001t0016g0138 a0001c0001t0017g0116 a0001c0001t0017g0171 a0001c0001t0019g0068 a0001c0001t0022g0162 a0001c0001t0022g0224 a0001c0001t0024g0133 a0001c0001t0025g0163 a0001c0001t0025g0200 a0001c0001t0027g0172 a0001c0001t0032g0188 a0001c0001t0032g0220 a0001c0001t0033g0178 a0001c0001t0033g0219 a0001c0001t0034g0166 a0001c0001t0034g0189 a0001c0001t0035g0125 a0001c0001t0035g0187 a0001c0001t0048g0180 a0001c0001t0049g0081 a0001c0001t0050g0155 a0001c0001t0056g0153 a0001c0001t0057g0159 a0001c0001t0058g0227 a0001c0001t0059g0119 a0001c0001t0061g0143 a0001c0001t0062g0201 a0001c0001t0066g0221 a0001c0001t0087g0118 a0001c0001t0088g0185 a0001c0001t0098g0139 a0001c0001t0102g0209 a0001c0001t0103g0112 a0001c0001t0105g0147 a0001c0001t0107g0174 a0001c0001t0109g0135 a0001c0001t0111g0050 a0001c0001t0112g0213 a0001c0001t0114g0137 a0001c0001t0116g0106 a0001c0001t0119g0173 a0001c0001t0127g0144 a0001c0001t0128g0123 a0001c0001t0129g0134 a0001c0001t0132g0226 a0001c0001t0133g0168 a0001c0001t0134g0113 a0001c0001t0136g0192 a0001c0001t0142g0230 a0001c0001t0143g0202 a0001c0001t0144g0186 a0001c0001t0145g0190 a0001c0001t0146g0184 a0001c0001t0147g0179 a0001c0001t0149g0151 a0001c0002t0028g0067 a0001c0002t0054g0105 a0001c0002t0139g0212 a0001c0002t0140g0142 a0001c0002t0141g0210 a0001c0004t0008g0102	94	231	0.4069	-46	c.-28 others(67): Show c.-282+25677_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRARP_chr1_15999236_16013807	16006244	GGGGAAAC others(39): Show GGGGAAACCCGTGAAGGCTGCGCCTGTGAGGTCTTCAACTTGGGGAA	G G	frameshift_variant frameshift_variant	HIGH	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0008 a0006c0011t0002g0008	1	400	0.0025	-46	c.409 others(53): Show c.409_454delGGGAAACCCGTGAAGGCTGCGCCTGTGAGGTCTTCAAC TTGGGGAA	p.Gly others(5): Show p.Gly137fs	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding	2/2	477/3039	409/510	137/169			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883251	GCGGGCAA others(39): Show GCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGCCGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0018 a0008c0007t0018	a0008c0007t0018g0001 a0008c0007t0018g0001	1	56	0.0179	-46	c.88 others(57): Show c.8863_*8908delGACCCGGCCTTTTACCCCCCCCGCCGGTGCCGCA CTTATTTGCCCG		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4036		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144884020	GGCGGTCA others(39): Show GGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGTGGGGGGGGGGAAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG01175.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0020 a0001c0001t0017g0043 a0001c0001t0001g0020 a0001c0001t0017g0043	2	56	0.0357	-46	c.80 others(57): Show c.8094_*8139delGGCTTCCCCCCCCCCACCCCCCACCCCGCCTCGG CTTTTTGACCGC		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					3267		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239200	ATATATAT others(39): Show ATATATATATATATATATATATATATATACTATATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0272 a0001c0003t0019g0272	1	274	0.0037	-46	c.68- others(63): Show c.68-45582_68-45537delTATATATACTATATATATATATATACTA TATATATATATATATATA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRMS_chr20_63533489_63552749	63535906	CCCCCCCT others(39): Show CCCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0005 a0004c0005t0006g0005	1	356	0.0028	-46	c.48 others(57): Show c.4866_*4911delTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCC AGGTGAGGGGGG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					2582		chr20	TogoVar
SRMS_chr20_63533489_63552749	63549192	CCGCCCTC others(39): Show CCGCCCTCTCCTCCCCCCACCCGCTGCCCGTCTCCTCCCGCCCCCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03139.hp2 HG02451.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0031 a0003c0004t0002 a0003c0004t0031	a0003c0004t0002g0003 a0003c0004t0031g0103 a0003c0004t0002g0003 a0003c0004t0031g0103	2	356	0.0056	-46	c.-17 others(57): Show c.-1775_-1730delTCGGGGGCGGGAGGAGACGGGCAGCGGGTGGGGG GAGGAGAGGGCG		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding					1444		chr20	TogoVar
ST14_chr11_130154782_130215362	130193782	TTGATTGT others(39): Show TTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp1 HG02809.hp1 others(3): Show HG01261.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0003 a0005c0009t0002 a0005c0009t0003	a0005c0009t0002g0220 a0005c0009t0002g0223 a0005c0009t0003g0205 others(3): Show a0005c0009t0002g0220 a0005c0009t0002g0223 a0005c0009t0003g0205 a0005c0009t0003g0206 a0005c0009t0003g0207 a0005c0009t0003g0224	6	292	0.0206	-46	c.876 others(61): Show c.876-220_876-175delACAAAGGTGAACTGTTTATCACTAGCGCCT TCCATCAGTGATTGTG		ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ST3GAL3_chr1_43702536_43936159	43904943	CTTTCTGC others(39): Show CTTTCTGCCACTCTTCCTCCCCTTCCTGCTCCTCTTCCCACCACTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02970.hp2 others(2): Show HG02809.hp2 HG02896.hp1 HG02970.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0152 a0001c0001t0002g0115 others(2): Show a0001c0001t0001g0069 a0001c0001t0001g0152 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117	5	274	0.0183	-46	c.744 others(63): Show c.744+5218_744+5263delTTCTGCCACTCTTCCTCCCCTTCCTGCT CCTCTTCCCACCACTCTT		ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277544	ATATATAT others(39): Show ATATATATATATATATATATATATACACACACACATATGTTTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	102	0.0098	-46	c.19- others(63): Show c.19-36238_19-36193delTACACACACACATATGTTTATGTGTATA TATATATATATATATATA		ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
STARD13_chr13_33098137_33290755	33177965	GAAGGAAG others(39): Show GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0261 a0002c0003t0003g0261	1	302	0.0033	-46	c.170 others(65): Show c.170-10389_170-10344delTCCTTCCTTCCTTCCTTCCTTCCTTT CCTTCCTTCCTTCCTTCCTT		STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13						chr13	TogoVar
STAT6_chr12_57090408_57116362	57100654	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03225.hp2 HG02055.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	2	368	0.0054	-46	c.151 others(63): Show c.1513-610_1513-565delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT		STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21						chr12	TogoVar
STIM1_chr11_3850664_4098208	3895701	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03491.hp2 HG01069.hp1 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0021 a0001c0002t0006 a0001c0002t0021	a0001c0002t0006g0255 a0001c0002t0021g0098 a0001c0002t0006g0255 a0001c0002t0021g0098	2	300	0.0067	-46	c.139 others(65): Show c.139+39296_139+39341delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTCCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895713	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0178 a0001c0001t0006g0178	1	300	0.0033	-46	c.139 others(65): Show c.139+39308_139+39353delTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTCCTTCCTTCCTTCCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32C_chr10_132202492_132312950	132280831	TCCCTGCA others(39): Show TCCCTGCACTCCGTGATCACACTGAGGCCTCCATGCCGTGACCACGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	368	0.0027	-46	c.262 others(65): Show c.262+26695_262+26740delGCGTGGTCACGGCATGGAGGCCTCAG TGTGATCACGGAGTGCAGGG		STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11						chr10	TogoVar
STK4_chr20_44961512_45085021	45079818	TTGCCCCC others(39): Show TTGCCCCCACTCCTTTTTTCTTTTTTAAGTTTGAGATGCTTCCTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0268 a0001c0001t0028g0268	1	328	0.0031	-46	c.46 others(57): Show c.4644_*4689delGCCCCCACTCCTTTTTTCTTTTTTAAGTTTGAGA TGCTTCCTGTGT		STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	11/11				4644	INFO_REALIGN_3_PRIME	chr20	TogoVar
STOML2_chr9_35094778_35108131	35105526	TAAAAATA others(39): Show TAAAAATAAATGAATACATACATATATATGTACATACATACATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	-46	c.-24 others(57): Show c.-2478_-2433delTTTTATGTATGTATGTACATATATATGTATGTAT TCATTTATTTTT		STOML2	ENSG00000165283.16	transcript	ENST00000356493.10	protein_coding					2396		chr9	TogoVar
STON2_chr14_81255652_81405324	81308821	TATATGTG others(39): Show TATATGTGTGTGTGTGTATATATATATATATACACATACATACATAC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0130 a0003c0003t0003g0130	1	264	0.0038	-46	c.742 others(65): Show c.742+15150_742+15195delGTATGTATGTATGTGTATATATATAT ATATACACACACACACATAT		STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7						chr14	TogoVar
STRIP2_chr7_129429432_129493399	129476158	TCCTCCCG others(39): Show TCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0033 a0001c0001t0012g0033	1	346	0.0029	-46	c.194 others(65): Show c.1945-4572_1945-4527delACGGGGCGGCTGGCCGGGCGGGGGCT GCCCCCCACCTCCCTCCCGG		STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN4_chr19_46714511_46751450	46717855	TCTCTCCA others(39): Show TCTCTCCATGTGACTTTGGGTGAGTGGCTTCTCTGTGAGCCTCAGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0105	1	402	0.0025	-46	c.25 others(57): Show c.2504_*2549delGACTGAGGCTCACAGAGAAGCCACTCACCCAAAG TCACATGGAGAG		STRN4	ENSG00000090372.15	transcript	ENST00000263280.11	protein_coding					1655		chr19	TogoVar
STYK1_chr12_10613923_10679052	10630032	GGAGAGAG others(39): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	368	0.0027	-46	c.452 others(61): Show c.452-404_452-359delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTC		STYK1	ENSG00000060140.9	transcript	ENST00000075503.8	protein_coding	5/10						chr12	TogoVar
STYXL1_chr7_75991342_76053000	76046274	CTGTGTGT others(39): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0280	1	356	0.0028	-46	c.-5+ others(61): Show c.-5+1342_-5+1387delCACACACACACACACACACACACACACACA CACACACACACACACA		STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8						chr7	TogoVar
SUCNR1_chr3_151868643_151889619	151868675	TCAGCACA others(39): Show TCAGCACATATTATCAAAAATGAATTAGCTGTGGAATTTGCATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	456	0.0022	-46	c.-50 others(57): Show c.-5072_-5027delCAGCACATATTATCAAAAATGAATTAGCTGTGGA ATTTGCATATAA		SUCNR1	ENSG00000198829.6	transcript	ENST00000362032.6	protein_coding					4967		chr3	TogoVar
SULT4A1_chr22_43819509_43867513	43827381	GAAAAATT others(39): Show GAAAAATTATTCTTGTAACCCTTTAATGATACCTAAGGGGCAAAATT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0199 a0001c0001t0023g0199	1	386	0.0026	-46	c.743 others(63): Show c.743-1314_743-1269delAATTTTGCCCCTTAGGTATCATTAAAGG GTTACAAGAATAATTTTT		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	6/6						chr22	TogoVar
SUPT3H_chr6_44821726_45382934	45288547	GTATATAT others(39): Show GTATATATATATATATATGTATATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00621.hp1 others(12): Show HG00408.hp2 HG00423.hp1 HG00621.hp1 HG01261.hp1 HG01361.hp2 HG02004.hp2 HG02015.hp1 HG02922.hp2 HG03130.hp1 NA18906.hp2 NA18949.hp1 NA18978.hp2 NA19011.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0062 a0001c0001t0001g0192 a0001c0001t0001g0193 others(12): Show a0001c0001t0001g0062 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0233 a0001c0001t0001g0257 a0001c0001t0002g0038 a0001c0001t0003g0023 a0001c0001t0003g0040 a0001c0001t0012g0046	15	262	0.0573	-46	c.101 others(65): Show c.101+76608_101+76653delTATATATATACATATATATATATATA TACATATATATATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45288553	ATATATAT others(39): Show ATATATATATATGTATATATATATATATATGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02056.hp1 HG02622.hp1 others(1): Show HG00099.hp2 HG02056.hp1 HG02622.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0011 a0001c0002t0002g0138 a0001c0002t0002g0139 others(1): Show a0001c0001t0005g0011 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0159	4	262	0.0153	-46	c.101 others(65): Show c.101+76602_101+76647delCACATATATATATATACATATATATA TATATATACATATATATATA		SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10						chr6	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	276	0.0036	-46	c.149 others(65): Show c.149-12188_149-12143delATATATATATATATATATATATATAT ATATATATATATATATATAT		SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8						chr1	TogoVar
SVEP1_chr9_110360248_110584741	110410010	AAATTTAT others(39): Show AAATTTATAAATGAACACCTCTCTACTTATACTCTATACCCTCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(124): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(36): Show a0001 a0002 a0004 a0005 a0011 a0013 a0015 a0023 a0024 a0027 a0033 a0038 a0043 a0044 a0050 a0051 a0054 a0057 a0061 a0062 a0063 a0066 a0067 a0070 a0074 a0075 a0079 a0081 a0084 a0091 a0094 a0099 a0100 a0101 a0103 a0107 a0109 a0111 a0112	a0001c0002 a0001c0053 a0001c0061 others(55): Show a0001c0002 a0001c0053 a0001c0061 a0001c0120 a0001c0122 a0001c0162 a0002c0001 a0002c0141 a0002c0160 a0002c0164 a0004c0006 a0004c0007 a0004c0092 a0004c0094 a0004c0106 a0005c0089 a0011c0025 a0011c0026 a0011c0096 a0013c0041 a0013c0070 a0015c0011 a0023c0056 a0023c0165 a0024c0036 a0024c0136 a0027c0021 a0033c0030 a0038c0043 a0038c0156 a0043c0142 a0043c0166 a0044c0047 a0050c0051 a0051c0050 a0054c0052 a0057c0078 a0061c0149 a0062c0145 a0063c0074 a0066c0071 a0067c0069 a0070c0083 a0074c0091 a0075c0093 a0079c0097 a0081c0104 a0084c0107 a0091c0133 a0094c0081 a0099c0119 a0100c0118 a0101c0121 a0103c0131 a0107c0077 a0109c0075 a0111c0154 a0112c0155	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(68): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0053t0001 a0001c0061t0010 a0001c0061t0011 a0001c0120t0009 a0001c0122t0002 a0001c0162t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0141t0002 a0002c0160t0007 a0002c0164t0006 a0004c0006t0002 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0092t0001 a0004c0094t0001 a0004c0106t0002 a0005c0089t0001 a0011c0025t0002 a0011c0025t0004 a0011c0025t0016 a0011c0026t0001 a0011c0096t0001 a0013c0041t0003 a0013c0070t0002 a0015c0011t0001 a0015c0011t0002 a0023c0056t0001 a0023c0165t0008 a0024c0036t0001 a0024c0136t0001 a0027c0021t0001 a0027c0021t0002 a0033c0030t0002 a0038c0043t0001 a0038c0043t0003 a0038c0156t0007 a0043c0142t0002 a0043c0166t0006 a0044c0047t0003 a0050c0051t0001 a0051c0050t0004 a0054c0052t0002 a0057c0078t0002 a0061c0149t0002 a0062c0145t0001 a0063c0074t0002 a0066c0071t0001 a0067c0069t0001 a0070c0083t0001 a0074c0091t0001 a0075c0093t0004 a0079c0097t0004 a0081c0104t0003 a0084c0107t0002 a0091c0133t0001 a0094c0081t0004 a0099c0119t0002 a0100c0118t0004 a0101c0121t0003 a0103c0131t0003 a0107c0077t0002 a0109c0075t0015 a0111c0154t0003 a0112c0155t0001	a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0118 others(124): Show a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0118 a0001c0002t0002g0027 a0001c0002t0002g0163 a0001c0002t0002g0178 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0268 a0001c0002t0002g0284 a0001c0002t0002g0288 a0001c0002t0002g0336 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0210 a0001c0053t0001g0090 a0001c0053t0001g0122 a0001c0061t0010g0003 a0001c0061t0011g0008 a0001c0120t0009g0107 a0001c0122t0002g0261 a0001c0162t0006g0006 a0002c0001t0001g0133 a0002c0001t0001g0171 a0002c0001t0001g0184 a0002c0001t0001g0321 a0002c0001t0002g0164 a0002c0001t0002g0204 a0002c0001t0002g0213 a0002c0001t0002g0232 a0002c0001t0002g0274 a0002c0001t0002g0279 a0002c0001t0002g0308 a0002c0001t0002g0309 a0002c0001t0002g0318 a0002c0001t0002g0329 a0002c0001t0002g0333 a0002c0001t0003g0238 a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0004g0317 a0002c0141t0002g0325 a0002c0160t0007g0017 a0002c0164t0006g0011 a0004c0006t0002g0021 a0004c0006t0002g0031 a0004c0006t0002g0162 a0004c0006t0002g0227 a0004c0006t0002g0276 a0004c0006t0002g0281 a0004c0006t0002g0310 a0004c0006t0002g0327 a0004c0007t0001g0175 a0004c0007t0001g0282 a0004c0007t0002g0147 a0004c0007t0002g0228 a0004c0007t0002g0335 a0004c0007t0004g0086 a0004c0007t0004g0205 a0004c0092t0001g0089 a0004c0094t0001g0174 a0004c0106t0002g0049 a0005c0089t0001g0088 a0011c0025t0002g0138 a0011c0025t0004g0131 a0011c0025t0016g0266 a0011c0026t0001g0064 a0011c0026t0001g0101 a0011c0026t0001g0125 a0011c0096t0001g0063 a0013c0041t0003g0025 a0013c0041t0003g0026 a0013c0070t0002g0155 a0015c0011t0001g0148 a0015c0011t0002g0236 a0015c0011t0002g0240 a0015c0011t0002g0242 a0015c0011t0002g0243 a0015c0011t0002g0283 a0023c0056t0001g0330 a0023c0056t0001g0331 a0023c0165t0008g0005 a0024c0036t0001g0128 a0024c0036t0001g0129 a0024c0036t0001g0181 a0024c0136t0001g0183 a0027c0021t0001g0263 a0027c0021t0001g0342 a0027c0021t0002g0139 a0033c0030t0002g0135 a0033c0030t0002g0168 a0033c0030t0002g0222 a0038c0043t0001g0192 a0038c0043t0003g0269 a0038c0156t0007g0014 a0043c0142t0002g0081 a0043c0166t0006g0007 a0044c0047t0003g0087 a0044c0047t0003g0093 a0050c0051t0001g0197 a0050c0051t0001g0220 a0051c0050t0004g0083 a0051c0050t0004g0119 a0054c0052t0002g0262 a0054c0052t0002g0304 a0057c0078t0002g0193 a0061c0149t0002g0265 a0062c0145t0001g0316 a0063c0074t0002g0270 a0066c0071t0001g0292 a0067c0069t0001g0169 a0070c0083t0001g0201 a0074c0091t0001g0156 a0075c0093t0004g0084 a0079c0097t0004g0124 a0081c0104t0003g0037 a0084c0107t0002g0160 a0091c0133t0001g0275 a0094c0081t0004g0123 a0099c0119t0002g0278 a0100c0118t0004g0071 a0101c0121t0003g0202 a0103c0131t0003g0328 a0107c0077t0002g0300 a0109c0075t0015g0172 a0111c0154t0003g0361 a0112c0155t0001g0360	127	362	0.3508	-46	c.664 others(65): Show c.6648+1007_6648+1052delGGAAGAGGGTATAGAGTATAAGTAGA GAGGTGTTCATTTATAAATT		SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	37/47						chr9	TogoVar
SVOP_chr12_108902741_109026068	108927645	GGATTGTG others(39): Show GGATTGTGCAGTGGCACAATCTTCGCTCACTGCAACCCTCCACACCT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	288	0.0035	-46	c.104 others(65): Show c.1049-4894_1049-4849delAGGTGTGGAGGGTTGCAGTGAGCGAA GATTGTGCCACTGCACAATC		SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding	11/15						chr12	TogoVar
SYN1_chrX_47566901_47624857	47608245	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	282	0.0036	-46	c.378 others(63): Show c.378-1093_378-1048delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCC		SYN1	ENSG00000008056.14	transcript	ENST00000295987.13	protein_coding	1/12						chrX	TogoVar
SYNDIG1_chr20_24464629_24671616	24626173	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(60): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18940.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA19030.hp1 NA19060.hp2 NA19081.hp2 NA19084.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(60): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0003g0038 a0001c0001t0003g0063 a0001c0001t0003g0084 a0001c0001t0003g0098 a0001c0001t0003g0125 a0001c0001t0003g0146 a0001c0001t0003g0264 a0001c0001t0006g0142 a0001c0001t0006g0253 a0001c0001t0016g0088 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0156 a0002c0003t0003g0075	63	270	0.2333	-46	c.619 others(65): Show c.619-39152_619-39107delGGGGCGGCTGGCCTGGCGGGGGCTGA CCCCCACCTCCCTCCCGGAC		SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNPR_chr3_63273308_63621924	63314022	TATATATA others(39): Show TATATATATATATCCATATATATATATATCCATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02735.hp1 HG03516.hp2 others(1): Show HG01884.hp1 HG02735.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0199 a0001c0001t0003g0201 a0001c0001t0003g0204 others(1): Show a0001c0001t0001g0199 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0007g0182	4	246	0.0163	-46	c.84+ others(63): Show c.84+35293_84+35338delCCATATATATATATATCCATATATATAT ATATCCATATATATATAT		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT17_chr16_19163240_19273332	19252497	ATATATAT others(39): Show ATATATATACATATATATATACATATATATATACATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	324	0.0031	-46	c.122 others(67): Show c.1229-14381_1229-14336delATATATACATATATATATACATAT ATATATACATATATATATTTTT		SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT3_chr19_50616977_50644881	50619901	TTATTATT others(39): Show TTATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(69): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01943.hp1 HG02257.hp2 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18949.hp1 NA18973.hp2 NA18981.hp2 NA18989.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp2 NA19057.hp1 NA19063.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0003g0223 a0001c0001t0003g0257 a0001c0001t0004g0194 a0001c0001t0006g0032 a0001c0001t0007g0182 a0002c0006t0001g0018 a0002c0006t0001g0130 a0002c0006t0001g0170	72	388	0.1856	-46	c.25 others(57): Show c.2538_*2583delTTATCCAGGTATAATAATAATAATAATAATAATA ATAATAATAATA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2075		chr19	TogoVar
SYT3_chr19_50616977_50644881	50619903	ATTATTAT others(39): Show ATTATTATTATTATTATTATTATTATTATTATTATACCTGGATAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01884.hp1 others(31): Show HG00597.hp2 HG00741.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp1 HG02818.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp2 NA18950.hp1 NA18968.hp2 NA19043.hp2 NA19060.hp1 NA19067.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0005t0001 a0001c0005t0004 a0001c0012t0005 a0001c0013t0003	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0116 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0215 a0001c0001t0003g0048 a0001c0001t0004g0166 a0001c0003t0003g0232 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0139 a0001c0004t0001g0143 a0001c0004t0002g0026 a0001c0004t0002g0084 a0001c0004t0010g0067 a0001c0005t0001g0107 a0001c0005t0001g0145 a0001c0005t0001g0150 a0001c0005t0004g0136 a0001c0012t0005g0229 a0001c0013t0003g0224	34	388	0.0876	-46	c.25 others(57): Show c.2536_*2581delAATTATCCAGGTATAATAATAATAATAATAATAA TAATAATAATAA		SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding					2073		chr19	TogoVar
SYT9_chr11_7246904_7474043	7432568	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATACATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02809.hp1 others(3): Show HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02895.hp2 HG03540.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0003c0005t0001	a0001c0001t0001g0257 a0001c0001t0002g0231 a0001c0001t0004g0248 others(3): Show a0001c0001t0001g0257 a0001c0001t0002g0231 a0001c0001t0004g0248 a0001c0001t0007g0211 a0001c0002t0001g0128 a0003c0005t0001g0263	6	272	0.0221	-46	c.146 others(67): Show c.1467+11935_1467+11980delAAAAAAAAAAAAAATATATATACA TATATATATATATATATATATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432570	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATACATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG02258.hp1 others(1): Show HG01109.hp2 HG01433.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0002	a0001c0001t0001g0186 a0001c0001t0002g0236 a0001c0001t0003g0041 others(1): Show a0001c0001t0001g0186 a0001c0001t0002g0236 a0001c0001t0003g0041 a0001c0006t0002g0200	4	272	0.0147	-46	c.146 others(67): Show c.1467+11937_1467+11982delAAAAAAAAAAAATATATATACATA TATATATATATATATATATATA		SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
TACR1_chr2_75041463_75204520	75154442	ACACACAC others(39): Show ACACACACACTCTGAAGAAACCCAGTGGAGATTCAGCACTAACCCAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG06807.hp2 NA18973.hp1 HG01081.hp1 HG06807.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0002g0176 a0001c0001t0005g0167 a0001c0002t0002g0273 a0001c0001t0002g0176 a0001c0001t0005g0167 a0001c0002t0002g0273	3	282	0.0106	-46	c.390 others(65): Show c.390-33720_390-33675delGTGGGTTAGTGCTGAATCTCCACTGG GTTTCTTCAGAGTGTGTGTG		TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	1/4						chr2	TogoVar

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Search Results (Total: 1419 hits)