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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ASAP1_chr8_130047104_130448674	130049744	GGGGGGCA others(75): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0283 a0002c0002t0003g0283	1	308	0.0033	-82	c.49 others(93): Show c.4905_*4986delATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2359		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049806	GGGGGGCA others(75): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	308	0.0033	-82	c.48 others(93): Show c.4843_*4924delATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2297		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049829	GGGCAGAG others(75): Show GGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGG GGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG03669.hp1 HG02004.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0146 a0002c0003t0001g0019 a0002c0002t0001g0146 a0002c0003t0001g0019	2	308	0.0065	-82	c.48 others(93): Show c.4820_*4901delTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC CTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2274		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049884	CACATGGG others(75): Show CACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGG GGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 NA18948.hp1 others(1): Show HG01516.hp2 HG01517.hp1 NA18948.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0273 others(1): Show a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0273 a0002c0002t0003g0275	4	308	0.0130	-82	c.47 others(93): Show c.4765_*4846delATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2219		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049960	GGGGAATA others(75): Show GGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGGGAACACATGGGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0235 a0002c0002t0011g0235	1	308	0.0033	-82	c.46 others(93): Show c.4689_*4770delTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGT GTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2143		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050005	GAACACAT others(75): Show GAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATG GGGGGCAGAGGAGAACACATGGAGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0283 a0002c0002t0003g0283	1	308	0.0033	-82	c.46 others(93): Show c.4644_*4725delTCCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCC ATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2098		chr8	TogoVar
ASMT_chrX_1610059_1648081	1636939	GCTCTCCT others(75): Show GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGATGGGGACAGTGTCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03831.hp1 NA18942.hp2 others(1): Show HG03239.hp1 HG03831.hp1 NA18942.hp2 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0002c0002t0001g0042 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0129	4	223	0.0179	-82	c.910 others(97): Show c.910+380_910+461delCTCTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGATGGGGACAGTGTCCCA GC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
ASMT_chrX_1610059_1648081	1637215	ACATGAGG others(75): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	223	0.0045	-82	c.910 others(97): Show c.910+669_910+750delACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGT GG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638675	GTCCATCC others(75): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	223	0.0045	-82	c.910 others(99): Show c.910+2123_910+2204delATCCTGATGGCACATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638694	ACATGAGG others(75): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA21309.hp2 HG02615.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0135 a0001c0003t0001g0171 a0001c0001t0002g0135 a0001c0003t0001g0171	2	223	0.0090	-82	c.910 others(99): Show c.910+2148_910+2229delACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639466	ATGATGGG others(75): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	223	0.0045	-82	c.910 others(99): Show c.910+2938_910+3019delGTCCATCCATCCTGATGGCACATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640331	ATCCTGAT others(75): Show ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	223	0.0045	-82	c.911 others(99): Show c.911-2463_911-2382delATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCT GATG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641000	CCATGAGG others(75): Show CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGGTCCATCCCTCCTGATGGTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	223	0.0045	-82	c.911 others(99): Show c.911-1789_911-1708delACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGAT GTGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641165	CCATGAGG others(75): Show CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	223	0.0045	-82	c.911 others(99): Show c.911-1624_911-1543delACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(75): Show TATTATATATATATATATATTATATATATATATATATTATATATATATAT ATTATATATATATATATATATATATTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp1 HG03209.hp1 others(2): Show HG00639.hp2 HG03195.hp1 HG03209.hp1 HG03579.hp2 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0003c0013	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0002c0007t0001 a0003c0013t0006	a0001c0001t0001g0102 a0001c0001t0002g0141 a0002c0002t0005g0129 others(2): Show a0001c0001t0001g0102 a0001c0001t0002g0141 a0002c0002t0005g0129 a0002c0007t0001g0045 a0003c0013t0006g0058	5	216	0.0232	-82	c.621 others(98): Show c.6210-169_6210-88delTATATAAAATATATATATATATATATATA TAATATATATATATATAATATATATATATATATAATATATATATATATAT AAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BICD1_chr12_32101847_32388633	32346521	AATATATA others(75): Show AATATATATATACGTGTATATATATATATATATATATATATATATATATA TATATATATATACGTGTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0097 a0001c0001t0035g0097	1	290	0.0035	-82	c.276 others(101): Show c.2764+7552_2764+7633delTACGTGTATATATATATATATATATA TATATATATATATATATATATATATACGTGTATATATATATATATATATA TATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346556	ATATATAT others(75): Show ATATATATATATATATATATATATATACGTGTATATATATATATATATAT ATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18982.hp1 NA18989.hp1 others(3): Show NA18981.hp2 NA18982.hp1 NA18989.hp1 NA19010.hp1 NA19030.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0046 a0001c0004t0014 a0001c0002t0001 a0001c0002t0046 a0001c0004t0014	a0001c0002t0001g0066 a0001c0002t0001g0077 a0001c0002t0001g0210 others(3): Show a0001c0002t0001g0066 a0001c0002t0001g0077 a0001c0002t0001g0210 a0001c0002t0001g0233 a0001c0002t0046g0262 a0001c0004t0014g0004	6	290	0.0207	-82	c.276 others(101): Show c.2764+7598_2764+7679delTATATACGTGTATATATATATATATA TATATATATACGTGTATATATATATATATATACGTGTATATATATATATA TATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOK_chr2_241553745_241579131	241572927	GCCCCAGG others(75): Show GCCCCAGGTGAAGGGGCCCGGGAACACCTGCTCTCACCTGAGCCCCAGGT GAAGGGGCCCGGGAACACCTGCTCTCACCTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0025 a0001c0001t0046g0025	1	434	0.0023	-82	c.52 others(91): Show c.524_*605delGGGAACACCTGCTCTCACCTGAGCCCCAGGTGAAGG GGCCCGGGAACACCTGCTCTCACCTGAACCCCAGGTGAAGGGGCCC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	524	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144279061	CCAAGACC others(75): Show CCAAGACCACCACGGGCCATGACCACCAAGGGCCATGACCGTCACGGGCC ACGACCGCCATGGGCCATGACCCCCATGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	398	0.0025	-82	c.310 others(99): Show c.310-2839_310-2758delAGGCCCATGGGGGTCATGGCCCATGGCG GTCGTGGCCCGTGACGGTCATGGCCCTTGGTGGTCATGGCCCGTGGTGGT CTTG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144279080	TGACCACC others(75): Show TGACCACCAAGGGCCATGACCGTCACGGGCCACGACCGCCATGGGCCATG ACCCCCATGGGCCTCAAGACCACCACAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(174): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18984.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0008 a0014 a0015 a0016 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0001c0025 a0001c0027 a0001c0028 a0002c0004 a0006c0013 a0008c0029 a0014c0019 a0015c0021 a0016c0022 a0017c0024 a0019c0014	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0020t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0002c0004t0001 a0006c0013t0001 a0008c0029t0001 a0014c0019t0001 a0015c0021t0001 a0016c0022t0001 a0017c0024t0001 a0019c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(164): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0173 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0364 a0001c0020t0001g0129 a0001c0025t0001g0360 a0001c0027t0001g0130 a0001c0028t0001g0188 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0318 a0006c0013t0001g0303 a0006c0013t0001g0304 a0008c0029t0001g0204 a0014c0019t0001g0283 a0015c0021t0001g0183 a0016c0022t0001g0316 a0017c0024t0001g0079 a0019c0014t0001g0220	177	398	0.4447	-82	c.310 others(99): Show c.310-2858_310-2777delGTGGCCTGTGGTGGTCTTGAGGCCCATG GGGGTCATGGCCCATGGCGGTCGTGGCCCGTGACGGTCATGGCCCTTGGT GGTC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BPNT1_chr1_220052482_220094788	220052683	TTTGTATA others(75): Show TTTGTATAATATTTGTATTATATTTGTATAATTTGTATAATATATAATTT GTATATATTTGTATAATATTTGTAATATATTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0006t0001 a0002c0003t0003 a0003c0005t0003 a0005c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(238): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0002g0333 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0055 a0001c0001t0003g0062 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0149 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0191 a0001c0001t0003g0206 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0251 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0366 a0001c0001t0003g0380 a0001c0001t0004g0004 a0001c0001t0004g0079 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0291 a0001c0001t0004g0304 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0005g0008 a0001c0001t0006g0024 a0001c0001t0006g0382 a0001c0001t0006g0383 a0001c0001t0006g0384 a0001c0001t0006g0385 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0204 a0001c0001t0007g0220 a0001c0001t0008g0074 a0001c0001t0008g0076 a0001c0001t0008g0193 a0001c0001t0009g0207 a0001c0001t0009g0208 a0001c0001t0013g0337 a0001c0001t0019g0348 a0001c0001t0020g0381 a0001c0001t0021g0386 a0001c0002t0001g0009 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0006t0001g0159 a0002c0003t0003g0224 a0003c0005t0003g0114 a0005c0008t0001g0358	267	424	0.6297	-82	c.60 others(93): Show c.6079_*6160delCAAATATATTACAAATATTATACAAATATATACA AATTATATATTATACAAATTATACAAATATAATACAAATATTATACAA	BPNT1	ENSG00000162813.18	transcript	ENST00000322067.12	protein_coding		4798		chr1	TogoVar
C12orf40_chr12_39621183_39726914	39713353	CACATATA others(75): Show CACATATACGTGTATACACATATACATATGTATGTGTGTAGACACATACG TATGTATACACATATACATATGTATATATGTGT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0073 a0011c0011t0001g0073	1	360	0.0028	-82	c.141 others(101): Show c.1412-3394_1412-3313delGTGTATACACATATACATATGTATGT GTGTAGACACATACGTATGTATACACATATACATATGTATATATGTGTAC ATATAC	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C21orf58_chr21_46296130_46328870	46302707	TCCGTCTG others(75): Show TCCGTCTGCACACGGTGCGGGTCCCCGGGGCGCGCCCTGAGCCCGTCTGC ACACGGTGCGGGTCCCCGGGGCGCGCCCTGAGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01192.hp2 others(1): Show HG01069.hp2 HG01106.hp2 HG01192.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	4	378	0.0106	-82	c.722 others(97): Show c.722-213_722-132delGCTCAGGGCGCGCCCCGGGGACCCGCACCG TGTGCAGACGGGCTCAGGGCGCGCCCCGGGGACCCGCACCGTGTGCAGAC GG	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C2CD3_chr11_74007718_74176002	74117048	GTATATAT others(75): Show GTATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp2 HG00738.hp1 others(63): Show HG00423.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02738.hp2 HG02922.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 NA18522.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18988.hp2 NA19003.hp1 NA19009.hp2 NA19064.hp2 NA19070.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0008 others(5): Show a0002 a0003 a0008 a0017 a0028 a0029 a0032 a0034	a0002c0003 a0002c0005 a0002c0028 others(7): Show a0002c0003 a0002c0005 a0002c0028 a0003c0002 a0008c0007 a0017c0043 a0028c0046 a0029c0029 a0032c0024 a0034c0033	a0002c0003t0001 a0002c0003t0005 a0002c0005t0001 others(8): Show a0002c0003t0001 a0002c0003t0005 a0002c0005t0001 a0002c0028t0001 a0003c0002t0001 a0008c0007t0001 a0017c0043t0001 a0028c0046t0002 a0029c0029t0001 a0032c0024t0001 a0034c0033t0001	a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0050 others(63): Show a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0065 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0075 a0002c0003t0001g0078 a0002c0003t0001g0081 a0002c0003t0001g0083 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0187 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0199 a0002c0003t0001g0201 a0002c0003t0001g0202 a0002c0003t0001g0203 a0002c0003t0001g0204 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0005g0080 a0002c0005t0001g0008 a0002c0005t0001g0049 a0002c0005t0001g0058 a0002c0005t0001g0062 a0002c0005t0001g0063 a0002c0005t0001g0064 a0002c0005t0001g0069 a0002c0005t0001g0072 a0002c0005t0001g0073 a0002c0005t0001g0074 a0002c0005t0001g0085 a0002c0005t0001g0086 a0002c0005t0001g0087 a0002c0005t0001g0088 a0002c0005t0001g0092 a0002c0005t0001g0093 a0002c0005t0001g0166 a0002c0005t0001g0188 a0002c0005t0001g0189 a0002c0028t0001g0011 a0003c0002t0001g0260 a0008c0007t0001g0076 a0008c0007t0001g0211 a0008c0007t0001g0212 a0008c0007t0001g0216 a0008c0007t0001g0217 a0017c0043t0001g0084 a0028c0046t0002g0309 a0029c0029t0001g0198 a0032c0024t0001g0200 a0034c0033t0001g0178	66	318	0.2076	-82	c.152 others(101): Show c.1520+1098_1520+1179delTTCATATATATATATTCATATATATA TATTCATATATATATATTCATATATATATTCATATATATATATTCATATA TATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C7orf50_chr7_992006_1143247	1099090	GCGGCCTC others(75): Show GCGGCCTCCCCTTCCGGAGCCTCGCTGTCGCGTTCCTGCAGCCGGCCTCC CCTTCCGGAGCCTCGCTGTCGCGTTCCTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(45): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02257.hp2 HG02273.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03710.hp1 HG04184.hp2 NA18522.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19043.hp2 NA19054.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0002c0002t0003 a0006c0006t0005	a0001c0001t0002g0299 a0001c0001t0003g0251 a0001c0001t0003g0252 others(45): Show a0001c0001t0002g0299 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0275 a0001c0001t0003g0298 a0001c0001t0007g0124 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0144 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0008g0116 a0001c0001t0008g0132 a0001c0001t0009g0117 a0001c0001t0009g0128 a0001c0001t0009g0131 a0001c0001t0009g0133 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0001c0001t0011g0261 a0001c0001t0011g0276 a0001c0001t0012g0291 a0001c0001t0026g0175 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0006c0006t0005g0296	48	326	0.1472	-82	c.129 others(101): Show c.129+28085_129+28166delGCTGCAGGAACGCGACAGCGAGGCTC CGGAAGGGGAGGCCGGCTGCAGGAACGCGACAGCGAGGCTCCGGAAGGGG AGGCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318496	GGGAAAGG others(75): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18995.hp2 NA20905.hp1 HG02451.hp1 NA18995.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0022 a0001c0001t0004g0268 a0001c0002t0001g0222 a0001c0001t0003g0022 a0001c0001t0004g0268 a0001c0002t0001g0222	3	324	0.0093	-82	c.835 others(99): Show c.835-7585_835-7504delTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49318502	GGGAAAGG others(75): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18963.hp2 HG01081.hp1 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0158 a0001c0002t0001g0083 a0001c0002t0001g0158	2	324	0.0062	-82	c.835 others(99): Show c.835-7591_835-7510delTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA2D3_chr3_54117552_55079557	54736027	ATATATAT others(75): Show ATATATATGTATATATATACACATACATATGTATGTATATATATATACAT ATATATGTATGTGTATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	118	0.0085	-82	c.116 others(103): Show c.1168-16564_1168-16483delGTATATATATACACATACATATGT ATGTATATATATATACATATATATGTATGTGTATATATATACATATATAT GTATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG7_chr19_53904278_53948950	53922277	CAGTTGCC others(75): Show CAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATT GGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0354 a0001c0001t0004g0354	1	364	0.0028	-82	c.424 others(99): Show c.424+6778_424+6859delCCCCAGGTCTGGTATTGGTGGAGTTGTC CCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGA GTTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM4_chr19_43617368_43644850	43639505	CCTGCGCG others(75): Show CCTGCGCGGGTGGGGGGGCTGCGGCACGGCGGCCGGGCCCCGCGCCCCCT CCCCCGCTCGTCGCTCCCGGCTCCCGGCCCGCG	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	424	0.0024	-82	c.64+ others(95): Show c.64+140_64+221delCGCGGGCCGGGAGCCGGGAGCGACGAGCGGGG GAGGGGGCGCGGGGCCCGGCCGCCGTGCCGCAGCCCCCCCACCCGCGCAG	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding	1/8			chr19	TogoVar
CADM4_chr19_43617368_43644850	43643681	TGAATAGT others(75): Show TGAATAGTGTCCTCCAAGTAAAATATATGTTGAAGTTCTAGCCCCTGGTA TCTGTACATGTGACCTTATTTGGAAATAAAATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02258.hp2 NA18953.hp1 others(6): Show HG02132.hp1 HG02258.hp2 NA18953.hp1 NA18955.hp2 NA18966.hp1 NA18992.hp1 NA19076.hp2 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0001g0006 a0001c0001t0002g0058 a0001c0001t0003g0060 others(1): Show a0001c0001t0001g0006 a0001c0001t0002g0058 a0001c0001t0003g0060 a0001c0004t0002g0056	9	424	0.0212	-82	c.-39 others(93): Show c.-3973_-3892delGATTTTATTTCCAAATAAGGTCACATGTACAGAT ACCAGGGGCTAGAACTTCAACATATATTTTACTTGGAGGACACTATTC	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding		3832		chr19	TogoVar
CAMKMT_chr2_44356947_44777592	44409101	ATATATAT others(75): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	198	0.0051	-82	c.376 others(101): Show c.376+18802_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT GTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200816817	TGTACACA others(75): Show TGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATG TGTGTACACACACACGCGTGTGTATGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	366	0.0027	-82	c.645 others(99): Show c.645+1174_645+1255delGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CANT1_chr17_78986716_79014764	79004858	GGGAGTTA others(75): Show GGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAG GGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03017.hp2 NA18962.hp1 others(2): Show HG00140.hp1 HG03017.hp2 NA18962.hp1 NA18967.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0028 a0001c0002t0002g0099 a0001c0002t0002g0103 others(1): Show a0001c0002t0002g0028 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0003t0002g0065	5	394	0.0127	-82	c.-14 others(101): Show c.-147+4724_-147+4805delTTGCTCCATAACTCCCCCCCAGCTCC CCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCCCT AACTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004871	AGGAGTTA others(75): Show AGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCT GGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0218 a0001c0002t0003g0218	1	394	0.0025	-82	c.-14 others(101): Show c.-147+4711_-147+4792delCCTCCCTAACTCCTTGCTCCATAACT CCCCCCCAGCTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTT AACTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN1_chr11_65176928_65217006	65215683	TGTCACTT others(75): Show TGTCACTTAGAGGTGATTAATGATCAATGAACATTGTGTCACAATGAATG AGTGAATGAAAGAATGCATGAAGAAATGAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	394	0.0025	-82	c.43 others(93): Show c.4398_*4479delGTCACTTAGAGGTGATTAATGATCAATGAACATT GTGTCACAATGAATGAGTGAATGAAAGAATGCATGAAGAAATGAAGAA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		3678		chr11	TogoVar
CAPZB_chr1_19333775_19490539	19337706	CCCCTTCT others(75): Show CCCCTTCTGTGTGCCAGGCACCTTGCCAACATGACCCCGGGAGGCTGCAG CACCCGTGTGCCCATGGGGAACAGCTCGCTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0037 a0001c0001t0002g0039	2	364	0.0055	-82	c.17 others(93): Show c.1742_*1823delCCCAGCGAGCTGTTCCCCATGGGCACACGGGTGC TGCAGCCTCCCGGGGTCATGTTGGCAAGGTGCCTGGCACACAGAAGGG	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		1068		chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88931504	CGAGCCAG others(75): Show CGAGCCAGAGGTGGAGAAGGGCCGTGGGCCGGCCCCGTGGACGAGCCAGA GGTGGAGAAGGGCCGTGGGCCGGCCCCGTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	284	0.0035	-82	c.152 others(101): Show c.152-29930_152-29849delATCCACGGGGCCGGCCCACGGCCCTT CTCCACCTCTGGCTCGTCCACGGGGCCGGCCCACGGCCCTTCTCCACCTC TGGCTC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCNY_chr10_35331509_35577667	35549512	GTGACCCT others(75): Show GTGACCCTGCGCTGCTCATGGCCCATGACCCTACAGTGCTCGTGACCCTG CGCTGCTCATGACACATGACCCTACAGTGCTCA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19011.hp2 NA18982.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0235 a0001c0002t0001g0237	2	296	0.0068	-82	c.580 others(99): Show c.580-3487_580-3406delGCCCATGACCCTACAGTGCTCGTGACCC TGCGCTGCTCATGACACATGACCCTACAGTGCTCATGACCCTGCGCTGCT CATG	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35550208	CGTGACCC others(75): Show CGTGACCCTGCACTGCTCATGGCCCATGACCCTACACTGTTCATGACCCT GTGCTGCTCATAGTCCGTGACCCTACAGTGCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp1 HG03540.hp1 others(2): Show HG02109.hp1 HG03098.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 others(2): Show a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 a0001c0001t0007g0294 a0001c0001t0007g0295	5	296	0.0169	-82	c.580 others(99): Show c.580-2772_580-2691delTTCATGACCCTGTGCTGCTCATAGTCCG TGACCCTACAGTGCTTGTGACCCTGCACTGCTCATGGCCCATGACCCTAC ACTG	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD101_chr1_116996760_117041552	117029131	GAAAGAAA others(75): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01081.hp1 others(2): Show HG00280.hp2 HG00741.hp1 HG01081.hp1 HG01192.hp2 HG03710.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0005 a0005c0007 a0001c0002 a0003c0005 a0005c0007	a0001c0002t0001 a0003c0005t0001 a0005c0007t0001 a0001c0002t0001 a0003c0005t0001 a0005c0007t0001	a0001c0002t0001g0039 a0003c0005t0001g0371 a0005c0007t0001g0005 a0001c0002t0001g0039 a0003c0005t0001g0371 a0005c0007t0001g0005	5	426	0.0117	-82	c.282 others(101): Show c.2824+3289_2824+3370delAAGAAAGAAAGAAAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC20B_chr5_55107971_55178177	55147173	TTGTTTTA others(75): Show TTGTTTTATATATTTATATATTATATAAACATAAATATGTTATGTTTTAT ATATTTATATATTATATAAACATAAATATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18979.hp1 NA18989.hp1 HG00323.hp1 NA18979.hp1 NA18989.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0077 a0001c0001t0001g0096 a0003c0003t0003g0230 a0001c0001t0001g0077 a0001c0001t0001g0096 a0003c0003t0003g0230	3	330	0.0091	-82	c.127 others(97): Show c.127-399_127-318delTAACATATTTATGTTTATATAATATATAAA TATATAAAACATAACATATTTATGTTTATATAATATATAAATATATAAAA CA	CDC20B	ENSG00000164287.13	transcript	ENST00000381375.7	protein_coding	2/11			chr5	TogoVar
CDCP1_chr3_45077277_45151378	45108783	ATATATGC others(75): Show ATATATGCATGTATATATATATATGCATGTATACATATATATGCATGTAT ATATATATATGCATGTATACATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02280.hp1 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0032 a0003c0006t0007 a0001c0001t0032 a0003c0006t0007	a0001c0001t0032g0031 a0003c0006t0007g0246 a0001c0001t0032g0031 a0003c0006t0007g0246	2	384	0.0052	-82	c.102 others(101): Show c.1024+1608_1024+1689delCATGCATATATATGTATACATGCATA TATATATATACATGCATATATATGTATACATGCATATATATATATACATG CATATA	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CERCAM_chr9_128415857_128442347	128437942	CACACGTA others(75): Show CACACGTATATACACGTATATACACACACGTATATACACGTATATACACA CACGTATATACACGTATATACACACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 NA19030.hp2 NA19240.hp2 HG03225.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	3	400	0.0075	-82	c.10 others(93): Show c.1095_*1176delACACGTATATACACGTATATACACACACGTATAT ACACGTATATACACACACGTATATACACGTATATACACACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		596		chr9	TogoVar
CFAP54_chr12_96484577_96880555	96664732	TATATATC others(75): Show TATATATCTATATATATATATATCTATATATATCTATATCTATATCTATA TATATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0050 a0050	a0050c0052 a0050c0052	a0050c0052t0001 a0050c0052t0001	a0050c0052t0001g0086 a0050c0052t0001g0086	1	268	0.0037	-82	c.556 others(99): Show c.5563+807_5563+888delCTATATATATATATATCTATATATATCT ATATCTATATCTATATATATATATATATATATATATATATATATATAGAT ATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHMP1A_chr16_89639435_89662708	89647987	CCCAGCGC others(75): Show CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	392	0.0026	-82	c.253 others(97): Show c.253-738_253-657delCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GG	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHST8_chr19_33616953_33778506	33757418	GAAAGAAA others(75): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02559.hp1 HG03239.hp2 HG02040.hp1 HG02559.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0003g0247 a0001c0001t0006g0185 a0001c0001t0009g0174 a0001c0001t0003g0247 a0001c0001t0006g0185 a0001c0001t0009g0174	3	254	0.0118	-82	c.131 others(101): Show c.131-13993_131-13912delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757430	GAAAGAAA others(75): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	254	0.0039	-82	c.131 others(101): Show c.131-13981_131-13900delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLPX_chr15_65143219_65190342	65145940	ATATATAA others(75): Show ATATATAAATATATATATAAAATATATATATAAATATATATATAAATATA TATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01123.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0063 a0001c0001t0002g0064	2	190	0.0105	-82	c.48 others(93): Show c.4801_*4882delATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTTATATATATATTTATATA	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2278		chr15	TogoVar
CLPX_chr15_65143219_65190342	65145960	AATATATA others(75): Show AATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG02523.hp1 HG01123.hp1 HG01358.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0176 a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0176	3	190	0.0158	-82	c.47 others(93): Show c.4781_*4862delATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2258		chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)