Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADCK5_chr8_144369047_144398242	144382058	C C	CAGGATTA others(101): Show CAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTG CACTAAGGATTATGGGCTGGGTGTAGAAACAGATGTGTGCTCAGGCACCT GCTGCACTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	346	0.0029	108	c.117 others(123): Show c.117-957_117-956insTGGGTGTAGAAACAGATGTGTGCTCAGGCA CCTGCTGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCA GGCACCTGCTGCACTAAGGATTATGGGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144382214	T T	TGCACTAA others(101): Show TGCACTAAGGATTACGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCAC CTGCTGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAG GCACCTGCC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	346	0.0029	108	c.117 others(123): Show c.117-854_117-853insCGGGCCGGGTGTAGAAACAGATGTGTGCTC AGGCACCTGCTGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGT GCTCAGGCACCTGCCGCACTAAGGATTA	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144382214	T T	TGCACTAA others(101): Show TGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCAC CTGCCGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAG GCACCTGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp2 NA20905.hp1 HG00438.hp2 HG02074.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0140 a0002c0002t0001g0154 a0002c0002t0001g0155	3	346	0.0087	108	c.117 others(123): Show c.117-808_117-807insAAGGATTATGGGCCGGGTGTAGAAACAGAT GTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCCGGGTGTAGAAAC AGATGTGTGCTCAGGCACCTGCCGCACT	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144382214	T T	TGCACTAA others(101): Show TGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCAC CTGCTGCACTAAGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAG GCACCTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(114): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02735.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0002c0009 a0003c0004 others(3): Show a0002c0002 a0002c0009 a0003c0004 a0004c0005 a0006c0008 a0007c0007	a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0009t0001 a0003c0004t0001 a0003c0004t0002 a0004c0005t0001 a0006c0008t0001 a0007c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 others(63): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0191 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0007g0002 a0002c0009t0001g0012 a0003c0004t0001g0123 a0003c0004t0001g0142 a0003c0004t0002g0163 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186 a0006c0008t0001g0124 a0007c0007t0001g0165	117	346	0.3382	108	c.117 others(123): Show c.117-814_117-813insTGCACTAAGGATTATGGGCCGGGTGTAGAA ACAGATGTGTGCTCAGGCACCTGCCGCACTAAGGATTATGGGCCGGGTGT AGAAACAGATGTGTGCTCAGGCACCTGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADCK5_chr8_144369047_144398242	144382225	T T	TTATGGGC others(101): Show TTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGCACTA AGGATTATGGGCCGGGTGTAGAAACAGATGTGTGCTCAGGCACCTGCTGC ACTAAGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02109.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0202 a0001c0010t0001g0041 a0001c0001t0001g0202 a0001c0010t0001g0041	2	346	0.0058	108	c.117 others(123): Show c.117-814_117-813insTGCACTAAGGATTATGGGCCGGGTGTAGAA ACAGATGTGTGCTCAGGCACCTGCTGCACTAAGGAATATGGGCCGGGTGT AGAAACAGATGTGTGCTCAGGCACCTGC	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRE3_chr19_14614117_14679844	14620433	T T	TATATGTA others(101): Show TATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATATA TGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCATG TATATATGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp1 HG01981.hp1 HG01109.hp2 HG01515.hp1 HG01981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0362 a0002c0003t0001g0363 a0002c0003t0001g0367 a0002c0003t0001g0362 a0002c0003t0001g0363 a0002c0003t0001g0367	3	372	0.0081	108	c.192 others(125): Show c.1921-963_1921-962insTCATATATACATGAATATACATATATAT TCATATATACATGAATATACATATATATTCATATATACATGAATATACAT ATATATTCATATATACATGAATATACATAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRG3_chr16_57663306_57694378	57680105	T T	TCCTCCCC others(101): Show TCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCACCTCCTCTCCCCTCC CTTACCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCC CTCCCTTGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0307 a0004c0010t0003g0307	1	448	0.0022	108	c.668 others(122): Show c.668-137_668-30dupCCCCTCTGTTCACCTCCTCTCCCCTCCCTTA CCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCCCTCC CTTGCCCTCCCCTCCCTATATTCCCTT	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRG3_chr16_57663306_57694378	57680105	T T	TCCTCCCC others(101): Show TCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCCCTCC CTTACCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCC CTCCCTTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp2 NA21309.hp1 HG02145.hp1 HG02922.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0004 a0002c0022 a0001c0017 a0002c0004 a0002c0022	a0001c0017t0012 a0002c0004t0012 a0002c0022t0012 a0001c0017t0012 a0002c0004t0012 a0002c0022t0012	a0001c0017t0012g0324 a0002c0004t0012g0297 a0002c0022t0012g0298 a0001c0017t0012g0324 a0002c0004t0012g0297 a0002c0022t0012g0298	3	448	0.0067	108	c.668 others(123): Show c.668-127_668-126insCCCTCCTCTCCCCTCCCTTACCCTCCCCTC CCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCCCTCCCTTGCCCTCC CCTCCCTATATTCCCTTCCCCTCTGTTC	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRG3_chr16_57663306_57694378	57680139	A A	ACCTCCTC others(101): Show ACCTCCTCTCCCCTCCCTTACCCTCCCCTCCCTATATTCCCTTCCCCTCT GTTCCCCTCCTCTCCCCTCCCTTGCCCTCCCCTCCCTATATTCCCTTCCC CTCTGTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	448	0.0022	108	c.668 others(121): Show c.668-30_668-29insCCCCTCTGTTCCCCTCCTCTCCCCTCCCTTAC CCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCCCCTCCTCTCCCCTCCC TTGCCCTCCCCTCCCTATATTCCCTT	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRG3_chr16_57663306_57694378	57680182	C C	CCCCTCTG others(101): Show CCCCTCTGTTCCCCTCCTCTCCCCTCCCTTGCCCTCCCCTCCCTATATTC CCTTCCCCTCTGTTCCCCTCCTCTCCCCTCCCTTGCCCTCCCCTCCCTAT ATTCCCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	448	0.0022	108	c.668 others(121): Show c.668-30_668-29insCCCCTCTGTTCCCCTCCTCTCCCCTCCCTTGC CCTCCCCTCCCTATATTCCCTTTCCCTCTGTTCCCCTCCTCTCCCCTCCC TTGCCCTCCCCTCCCTATATTCCCTT	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADGRG7_chr3_100604601_100700479	100604863	G G	GTGTGTAT others(101): Show GTGTGTATATATATGTATATACATATACATATATGTATGTGTATATATAT GTATATACACATACATATATGTATGTGTATATATATGTATATACACATAC ATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0037 a0001c0010t0001g0037	1	340	0.0029	108	c.-49 others(119): Show c.-4994_-4993insTGTGTATATATATGTATATACATATACATATATG TATGTGTATATATATGTATATACACATACATATATGTATGTGTATATATA TGTATATACACATACATATATGTA	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		4737		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100604863	G G	GTGTGTAT others(101): Show GTGTGTATATATATGTATATACATATACATATATGTATGTGTATATATAT GTATATACACATACATATATGTATGTGTATATATATGTATATACATATAC ATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0034 a0001c0008t0009g0034	1	340	0.0029	108	c.-49 others(119): Show c.-4994_-4993insTGTGTATATATATGTATATACATATACATATATG TATGTGTATATATATGTATATACACATACATATATGTATGTGTATATATA TGTATATACATATACATATATGTA	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		4737		chr3	TogoVar
ADGRL3_chr4_61195326_62083335	61848011	A A	ATATATAT others(101): Show ATATATATAATATAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAATATATTATATATATATAAAATATATTATATATATAATAT AAAATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0054 a0001c0002t0034g0054	1	58	0.0172	108	c.148 others(129): Show c.1480+34137_1480+34138insTATATTATATATATAATATAAAAT ATATTATATATATAATATAAATATATTATATATATATAAAATATATTATA TATATAATATAAAATATATTATATATAATATAAA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADRA1D_chr20_4215630_4254287	4224541	G G	GGGGCCAG others(101): Show GGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGAC CAAGCGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTG AGACCAAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(28): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 NA19030.hp1 NA19062.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0007 a0001c0001 a0001c0003 a0008c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0008c0007t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0166 others(23): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0166 a0001c0001t0004g0005 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0348 a0001c0001t0004g0354 a0001c0001t0004g0356 a0001c0001t0005g0368 a0001c0001t0007g0343 a0001c0001t0007g0345 a0001c0001t0007g0346 a0001c0001t0007g0347 a0001c0001t0017g0151 a0001c0003t0001g0006 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0002g0046 a0001c0003t0007g0330 a0008c0007t0001g0034	31	452	0.0686	108	c.111 others(127): Show c.1112-2519_1112-2412dupGCTTGGTCTCACAGGCACCTGCAGCC TCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTCACAGGCACCTGC AGCCTCTATCCAGGATGGAACACCCCTGGCCC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFAP1L2_chr10_114289824_114409502	114306315	C C	CCAGGAGG others(101): Show CCAGGAGGGGACGCGGGGGCAGGAGGGGACGCGGGGGCAGGAGGGGACGC GGGGGCAGGAGGGGACGCGGGGGCAGGAGGGGACGCGGGGGCAGGAGGGG ACGCGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	262	0.0038	108	c.107 others(127): Show c.1073-1386_1073-1385insCCCCCGCGTCCCCTCCTGCCCCCGCG TCCCCTCCTGCCCCCGCGTCCCCTCCTGCCCCCGCGTCCCCTCCTGCCCC CGCGTCCCCTCCTGCCCCCGCGTCCCCTCCTG	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581411	C C	CACATACG others(101): Show CACATACGTATACGTGTACACACATATACACGTATACGTGTACACACATA TACACGTATACGTCTACGTGTACACACATATACACGTATACGTCTACGTG TACACACAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0037 a0001c0001t0037g0037	1	169	0.0059	108	c.48- others(125): Show c.48-70587_48-70586insCATACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACACGTATACGTCTACGTGTACACACATA TACACGTATACGTCTACGTGTACACACATA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148704380	T T	TTATATAT others(101): Show TTATATATATGTGTGTATATATATATTTATATATATATGTGTGTATATAT ATATTTATATATATGTGTGTATATATATATTTATATATATGTGTGTATAT ATATATTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02615.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0087 a0001c0002t0034 a0001c0002t0087	a0001c0002t0034g0077 a0001c0002t0087g0147 a0001c0002t0034g0077 a0001c0002t0087g0147	2	169	0.0118	108	c.104 others(129): Show c.1041+41625_1041+41626insGTATATATATATTTATATATATAT GTGTGTATATATATATTTATATATATGTGTGTATATATATATTTATATAT ATGTGTGTATATATATATTTATATATATATGTGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148704388	A A	ATGTGTGT others(101): Show ATGTGTGTATATATATATTTATATATATATGTGTGTATATATATATTTAT ATATATGTGTGTATATATATATTTATATATATGTGTGTATATATATATTT ATATATATG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0084 a0001c0001t0064g0084	1	169	0.0059	108	c.104 others(129): Show c.1041+41625_1041+41626insGTATATATATATTTATATATATAT GTGTGTATATATATATTTATATATATGTGTGTATATATATATTTATATAT ATGTGTGTATATATATATTTATATATATGTGTGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL1_chr15_86074871_86921156	86635287	C C	CCCCCTCC others(101): Show CCCCCTCCCCCTCCCCGTCCCCCTCCCCCTCCTTCCCCTCCCCCTCCCCC TCCCCCTCCTTCCCCTCCCCCTCCCCCTCCTTCCCCTCCCCCTCCCCCTC CCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG03239.hp1 others(1): Show HG00621.hp1 HG00738.hp1 HG03239.hp1 NA18943.hp1	a0001 a0022 a0001 a0022	a0001c0004 a0001c0008 a0001c0051 others(1): Show a0001c0004 a0001c0008 a0001c0051 a0022c0049	a0001c0004t0001 a0001c0008t0001 a0001c0051t0033 others(1): Show a0001c0004t0001 a0001c0008t0001 a0001c0051t0033 a0022c0049t0048	a0001c0004t0001g0120 a0001c0008t0001g0079 a0001c0051t0033g0060 others(1): Show a0001c0004t0001g0120 a0001c0008t0001g0079 a0001c0051t0033g0060 a0022c0049t0048g0013	4	132	0.0303	108	c.299 others(129): Show c.2995-38971_2995-38970insGTCCCCCTCCCCCTCCTTCCCCTC CCCCTCCCCCTCCCCCTCCTTCCCCTCCCCCTCCCCCTCCTTCCCCTCCC CCTCCCCCTCCCCCTCCTTCCCCTCCCCCTCCCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(101): Show ATATATATATAAATATATATATTTATAAATATATATATTTATATATAAAT ATATATTTATAAATATATATATTTATATATATAAATATATATATTTATAA ATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	104	0.0096	108	c.34+ others(125): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATATTTATAAATATATATTTATATATAAATATATA TATTTATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AK3_chr9_4704556_4746202	4735256	T T	TACATATA others(101): Show TACATATATAAATATATATATACATATATAAATATATATATACATATATA AATATATATATACATATATAAATATATATATACATATATAAATATATATA CATATATAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	462	0.0022	108	c.151 others(125): Show c.151+5680_151+5681insTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATATTTATATATGTATATATATAT TTATATATGTATATATATATTTATATATGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735266	T T	TATATACA others(101): Show TATATACACATATATAAATATATATACACATATATAAATATATATACACA TATATAAATATATATACACATATATAAATATATATACACATATATAAATA TATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0053 a0002c0003t0053	a0002c0003t0053g0095 a0002c0003t0053g0095	1	462	0.0022	108	c.151 others(125): Show c.151+5670_151+5671insGTGTATATATATTTATATATGTGTATAT ATATTTATATATGTGTATATATATTTATATATGTGTATATATATTTATAT ATGTGTATATATATTTATATATGTGTATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735274	A A	AATATATA others(101): Show AATATATATACATATATAAATATATATATACATATATAAATATATATACA TATATAAATATATATATACATATATAAATATATATATAAATATATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02273.hp2 HG02970.hp2 others(3): Show HG02258.hp1 HG02273.hp2 HG02970.hp2 NA19003.hp1 NA19060.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0003g0423 a0001c0001t0004g0111 a0001c0001t0004g0112 others(3): Show a0001c0001t0003g0423 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0007g0156 a0001c0001t0007g0165 a0001c0001t0007g0386	6	462	0.0130	108	c.151 others(125): Show c.151+5662_151+5663insATTTATATATGTATATATATTTATATAT ATATTTATATATGTATATATATATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735314	T T	TATATATA others(101): Show TATATATACATATATAAATATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG03130.hp2 HG02257.hp1 HG02280.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0090 a0001c0001t0003g0117 a0001c0001t0003g0118	3	462	0.0065	108	c.151 others(125): Show c.151+5622_151+5623insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATATTTATATATGTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735314	T T	TATATATA others(101): Show TATATATATACATATATAAATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	462	0.0022	108	c.151 others(125): Show c.151+5622_151+5623insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735334	T T	TATATATA others(101): Show TATATATATACATATATAAATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATACATATATAAATATATATA CATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG01433.hp1 others(1): Show HG01081.hp1 HG01358.hp1 HG01433.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0001 a0001c0001t0010 a0001c0001t0015	a0001c0001t0001g0182 a0001c0001t0001g0376 a0001c0001t0010g0272 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0376 a0001c0001t0010g0272 a0001c0001t0015g0185	4	462	0.0087	108	c.151 others(125): Show c.151+5602_151+5603insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735354	T T	TATATATA others(101): Show TATATATACATATATAAATATATATACATATATAAATATATATACATATA TAAATATATATACATATATAAATATATATACATATATAAATATATATATA CATATATAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	462	0.0022	108	c.151 others(125): Show c.151+5582_151+5583insTTATATATGTATATATATATTTATATAT GTATATATATTTATATATGTATATATATTTATATATGTATATATATTTAT ATATGTATATATATTTATATATGTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367814	A A	ATATATTA others(101): Show ATATATTATATATAATATATGTTATATATATTATATATTATATGTTATAT ATATTATATATAATATGTTATATATATTATATATAACATGTTATATATAA TATATATGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	284	0.0035	108	c.891 others(127): Show c.891+27251_891+27252insTATATATAATATATGTTATATATATT ATATATTATATGTTATATATATTATATATAATATGTTATATATATTATAT ATAACATGTTATATATAATATATATGTTATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367846	T T	TTATATAT others(101): Show TTATATATTATATGTTATATATATTATATAATATATGTTATATATATTAT ATATTATATGTTATATATTATATATAATATGTTATATATATTATATATAA CATATGTTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0141 a0002c0002t0011g0141	1	284	0.0035	108	c.891 others(127): Show c.891+27285_891+27286insTATATGTTATATATATTATATAATAT ATGTTATATATATTATATATTATATGTTATATATTATATATAATATGTTA TATATATTATATATAACATATGTTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367846	T T	TTATATAT others(101): Show TTATATATTATATGTTATATATATTATATATTATATGTTATATATATTAT ATATAATATGTTATATATATTATATATTATATGTTATATATATTATATAT AATATGTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0011	a0001c0001t0001g0064 a0002c0002t0011g0084 a0001c0001t0001g0064 a0002c0002t0011g0084	2	284	0.0070	108	c.891 others(127): Show c.891+27285_891+27286insTATATGTTATATATATTATATATTAT ATGTTATATATATTATATATAATATGTTATATATATTATATATTATATGT TATATATATTATATATAATATGTTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALDH16A1_chr19_49448225_49476050	49461184	T T	TCTGGACT others(101): Show TCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGAG TCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGG AGCTGGGAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02451.hp1 others(9): Show HG01261.hp2 HG02145.hp1 HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA19030.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0008 a0003c0004 a0004c0008	a0003c0004t0002 a0004c0008t0008 a0004c0008t0012 a0003c0004t0002 a0004c0008t0008 a0004c0008t0012	a0003c0004t0002g0027 a0003c0004t0002g0125 a0003c0004t0002g0126 others(5): Show a0003c0004t0002g0027 a0003c0004t0002g0125 a0003c0004t0002g0126 a0003c0004t0002g0127 a0003c0004t0002g0128 a0003c0004t0002g0129 a0004c0008t0008g0008 a0004c0008t0012g0124	12	342	0.0351	108	c.577 others(123): Show c.577+290_577+291insCTCCTAGGTCTGAGGGAGGAGGGGCTGGGG TCTGGACTCCTGAGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGG TCTGAGGGAGGAGGAGCTGGGACCTGGA	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49461328	C C	CCTGGACT others(101): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGAGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA20805.hp2 HG04204.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0104 a0001c0001t0001g0121	2	342	0.0059	108	c.578 others(123): Show c.578-258_578-257insGACCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(101): Show TATATATATATACATATATATATATATATATATGTATATATATATATATG TATATGTATATATATATATATGTATATATATATATATATATGTATATATA TATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0254 a0001c0007t0007g0254	1	370	0.0027	108	c.44 others(119): Show c.4477_*4478insGTATATATATATATATACATATATATATATATAT ATACATATATATATATATACATATACATATATATATATATACATATATAT ATATATATATATGTATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANKH_chr5_14699800_14876778	14811181	C C	CAAGAGTC others(101): Show CAAGAGTCTCGGCTCTGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0004t0009 a0001c0001t0012 a0001c0004t0009	a0001c0001t0012g0009 a0001c0004t0009g0050 a0001c0001t0012g0009 a0001c0004t0009g0050	2	232	0.0086	108	c.97- others(125): Show c.97-41991_97-41990insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCAGAGCCGAGACTCTT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKRD11_chr16_89262630_89495561	89305991	C C	CCCCACCT others(101): Show CCCCACCTCCCACTCCGCAGACACGCGCCATCTACCTCCCACTCCGCAGA CACGCGCCACCTCCCACTCCGCAGACACGCCACTTACCTCCCACTCCGCA GGACACGCA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0239 a0015c0026t0001g0239	1	310	0.0032	108	c.88- others(121): Show c.88-648_88-647insTGCGTGTCCTGCGGAGTGGGAGGTAAGTGGCG TGTCTGCGGAGTGGGAGGTGGCGCGTGTCTGCGGAGTGGGAGGTAGATGG CGCGTGTCTGCGGAGTGGGAGGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89306696	C C	CGCGCCAC others(101): Show CGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCACTCCGCA GACACGCGCCACCTACCTCCCACTCCGCAGACACGCGCCACCTCCCATTC CACAGACAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20129.hp2 HG03453.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0064 a0002c0002t0001g0065	2	310	0.0065	108	c.88- others(123): Show c.88-1353_88-1352insATGTCTGTGGAATGGGAGGTGGCGCGTGTC TGCGGAGTGGGAGGTAGGTGGCGCGTGTCTGCGGAGTGGGAGGTGGCGCG TGTCTGCGGAGTGGGAGGTAGGTGGCGC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	3/12			chr16	TogoVar
ANO2_chr12_5557655_5950259	5610378	T T	TATAAATG others(101): Show TATAAATGCATATATTTATACATAAATATATAAATGCATATATTTATACA TAAATATATAAATGCATATATTTATACATAAATATATAAATGCATATATT TATACATAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	162	0.0062	108	c.208 others(127): Show c.2087+2277_2087+2278insTTATGTATAAATATATGCATTTATAT ATTTATGTATAAATATATGCATTTATATATTTATGTATAAATATATGCAT TTATATATTTATGTATAAATATATGCATTTAT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60349867	C C	CAGGGGAA others(101): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAAG GAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03688.hp2 HG02523.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0079 a0001c0001t0001g0100	2	334	0.0060	108	c.838 others(123): Show c.838-671_838-670insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(101): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	334	0.0030	108	c.838 others(123): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350029	C C	CAGGGGAA others(101): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18998.hp1 NA18941.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0189 a0001c0001t0001g0118 a0001c0001t0001g0189	2	334	0.0060	108	c.838 others(123): Show c.838-833_838-832insCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350137	G G	GAGGGGAA others(101): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAG GAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGAGAAGG CAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp1 HG02735.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0235 a0001c0001t0001g0236	2	334	0.0060	108	c.838 others(123): Show c.838-941_838-940insGCCTCCCTGCCTTCTCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA6_chr5_151095706_151162779	151140577	A A	AATATATA others(101): Show AATATATATATAAATATATATATAAATATATATATATATATATATATATT TATATATATATATATATTTATATATATATATATATATATTTATATATATA TATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	408	0.0025	108	c.19- others(121): Show c.19-335_19-334insATATATATATATATATATAAATATATATATAT ATATATATAAATATATATATATATATAAATATATATATATATATATATAT ATTTATATATATATTTATATATATAT	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
AOAH_chr7_36507941_36729494	36517262	C C	CTCTTTCT others(101): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	306	0.0033	108	c.160 others(127): Show c.1600-3883_1600-3882insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
APCDD1_chr18_10449635_10494949	10462540	C C	CCCTTCCT others(101): Show CCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCT TCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0218 a0001c0001t0023g0218	1	422	0.0024	108	c.59- others(123): Show c.59-5859_59-5858insCTCCTTCCTTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCC TTCCCTCCCTCCTTCCTTCCTTCCTTCC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APCDD1_chr18_10449635_10494949	10462603	T T	TTCCTTCC others(101): Show TTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCC TTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	422	0.0024	108	c.59- others(123): Show c.59-5851_59-5850insCTCCTTCCTTCCCTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCC TTCCTTCCCTCCCTCCTTCCTTCCTTCC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARCN1_chr11_118567409_118608033	118581929	G G	GACACACA others(101): Show GACACACACACACACACCCCTCTTCTAAGACTTTATGCCAAAGTCTTGCT TAAAATGAAGACTTAGGTAAGACTTACTGATCCAGAGACAGACAGACACA CACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	368	0.0027	108	c.267 others(123): Show c.267+423_267+424insCACACACACACACCCCTCTTCTAAGACTTT ATGCCAAAGTCTTGCTTAAAATGAAGACTTAGGTAAGACTTACTGATCCA GAGACAGACAGACACACACACACACACA	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFRP1_chr20_63693647_63712976	63693654	A A	ACCACCTC others(101): Show ACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCAC CACCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCA CCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	296	0.0034	108	c.67 others(119): Show c.6788_*6789insAGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGA GGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGG TGGTGGAGGTGGAGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4992		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693732	T T	TCCACCAC others(101): Show TCCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCAC CTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCT CCAACTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	296	0.0034	108	c.67 others(119): Show c.6710_*6711insTGGAGTTGGAGGTGGTGGTGGAGGTGGTGGAGGT GGAGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGG TGGAGGTGGTGGTGGAGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4914		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144686882	A A	ACACTAGC others(101): Show ACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAG CACTTCCCACCCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCT GTGACCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1 HG01168.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188	3	246	0.0122	108	c.-12 others(119): Show c.-1279_-1278insCGTGGTCACAGGGGTGGGAAATGGTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACTGCTAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1037		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144686964	C C	CGAGCACT others(101): Show CGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACAC ATTTACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0069 a0001c0004t0006g0069	1	246	0.0041	108	c.-13 others(119): Show c.-1361_-1360insACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTG TGGTCACGGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1119		chr8	TogoVar

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Search Results (Total: 10000 hits)