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
AGPAT4_chr6_161124967_161279061	161265121	T T	TGCTGGAC others(198): Show TGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCTGATT AGTACCCACCGCTGGACTGGGTGCTGATTAGTACCCACCGCTGGACTGGG TGCTGATTAGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGC TGGACTGGGTGCTGATTAGTACCCACCGCTGGACTGGGTGCTGACTAGTA CCCACC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01099.hp2 others(24): Show HG00621.hp1 HG00735.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02083.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG03486.hp1 HG03516.hp2 HG03834.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18977.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0001t0042 a0001c0001t0054 a0001c0001t0061 a0001c0001t0066 a0001c0001t0070 a0001c0002t0004 a0001c0002t0016 a0001c0002t0023 a0001c0002t0039 a0001c0002t0072 a0001c0003t0032 a0001c0003t0079	a0001c0001t0002g0200 a0001c0001t0003g0180 a0001c0001t0005g0179 others(24): Show a0001c0001t0002g0200 a0001c0001t0003g0180 a0001c0001t0005g0179 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0010g0251 a0001c0001t0027g0177 a0001c0001t0042g0161 a0001c0001t0054g0252 a0001c0001t0061g0175 a0001c0001t0066g0178 a0001c0001t0070g0174 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0151 a0001c0002t0004g0176 a0001c0002t0016g0145 a0001c0002t0016g0149 a0001c0002t0016g0152 a0001c0002t0016g0190 a0001c0002t0016g0191 a0001c0002t0023g0150 a0001c0002t0039g0119 a0001c0002t0072g0162 a0001c0003t0032g0250 a0001c0003t0079g0006	27	264	0.1023	205	c.-90 others(222): Show c.-90+8816_-90+8817insGGTGGGTACTAGTCAGCACCCAGTCCAG CGGTGGGTACTAATCAGCACCCAGTCCAGCGGTGGGTACTAATCCAGCAC CCAGTCCAGCGGTGGGTACTAATCAGCACCCAGTCCAGCGGTGGGTACTA ATCAGCACCCAGTCCAGCGGTGGGTACTAATCAGCACCCAGTCCAGCGGT GGGTACTAATCCAGCACCCAGTCCAGC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGGCCA others(198): Show TGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGTGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGC GAGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	268	0.0037	205	c.351 others(224): Show c.351+14595_351+14596insGCCAGAGCGTGCACGGGCGCAGGGCG AGGCGGGTGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGA TGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAT GAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCA GGGCGAGGCAGGCGCAGGGCGAGGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(198): Show GGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGAGAGGG GGAGAGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAG GGGGGAGAGGGGGAGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGG GGGAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGGAGAG GGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0098 a0001c0001t0024g0098	1	356	0.0028	205	c.667 others(220): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCCTCCCCCCTCTCT CCCTTCTCTCTCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCCTTC CCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCTCTCCCCTCTCCCC CCTCTCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406096	A A	AGGGGGAG others(198): Show AGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGAG GGGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGGAGGGGAGGGGGGAGA GGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGAGAGAGAAGGGA GAGAGGGGGAGGGGGGGAGAGGGGAGAGGAGAGAGAGGAGGGGGAGGGGG GGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0215 a0001c0001t0009g0215	1	356	0.0028	205	c.667 others(220): Show c.667-853_667-852insCTCTCCCCCCCTCCCCCTCCTCTCTCTCCT CTCCCCTCTCCCCCCCTCCCCCTCTCTCCCTTCTCTCTCCCCTCTCCCCT CCCCCCTCTCCCCCTCCCCTCCCCCCTCTCCCCCCTCCCCTCCCCCCTTC CCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANXA2R_chr5_43034371_43045319	43043837	T T	TAATATAT others(198): Show TAATATATAATATATATAATATATTATATAATATATAATATATATAATAT ATTATATAATATATAATATATATAATATATTATATAATATATAATATATA TAATATATTATATAATATATAATATATATAATATATTATATAATATATAA TATATATAATATATTATATAATATATAATATATATAATATATTATATTAT ATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	205	c.-37 others(216): Show c.-3792_-3791insTTATATATAATATAATATATTATATATATTATAT ATTATATAATATATTATATATATTATATATTATATAATATATTATATATA TTATATATTATATAATATATTATATATATTATATATTATATAATATATTA TATATATTATATATTATATAATATATTATATATATTATATATTATATAAT ATATTATATATATTATATATT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3519		chr5	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(198): Show AATATATAATATATATTATATATATAATTGTATATAATATATATTATATA TAATTGTATATATAATATATATTATATATATAATGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01169.hp1 others(9): Show HG01069.hp1 HG01168.hp1 HG01169.hp1 HG02257.hp2 HG02486.hp1 HG02717.hp2 HG03041.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0056 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063	12	384	0.0313	205	c.-12 others(216): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT AATATATATTATATATAATTGTATATATAATATATATTATATATATAATG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1840030	C C	CTGGTGTG others(198): Show CTGGTGTGGGGACAGTCTGGTGTGGAAGCTGTCAGGTGTGGAAGCTGTCT GGTGGGGACAGTCCGGTGTGGGGACTGTCCGGTGTGGGGACTGTCCGGTG TGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTG GAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGA AGCTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0130 a0012c0130	a0012c0130t0073 a0012c0130t0073	a0012c0130t0073g0342 a0012c0130t0073g0342	1	363	0.0028	205	c.-47 others(222): Show c.-47-3323_-47-3322insTGGTGTGGGGACAGTCTGGTGTGGAAGC TGTCAGGTGTGGAAGCTGTCTGGTGGGGACAGTCCGGTGTGGGGACTGTC CGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGT GTGGAAGCTGTCTGGTGTGGAAGCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049643	G G	GGGCAGAG others(198): Show GGGCAGAGGGGAACACATGGAGGGCAGAGGAGAACACATGGGGGCAGAGG AGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACAT GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACA CATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	308	0.0033	205	c.50 others(216): Show c.5087_*5088insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCCATGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTGCCCC CCATGTATTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTT CTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCC CTCCATGTGTTCCCCTCTGCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2460		chr8	TogoVar
ASZ1_chr7_117358222_117432493	117373257	T T	TTTAAGAT others(198): Show TTTAAGATACATCCCAGTAATGTATCTTAGAAGTTTGCTATTATTTTCAT TGGAGGCTGACATTGCTTGCTTTTTATAACCTTTCCTTCTAGAAATAGTG TAAGAAACTTTGTATAGTATGTAGTCAAAACTTCTACAAGTAAGAATTTC TGTATGGGCTTAGAAGTATCCTTTGGGGGCTAGGATGGTGGCTCACGCCT ATAATG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19082.hp1 NA19070.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0273 a0001c0001t0001g0241 a0001c0001t0001g0273	2	306	0.0065	205	c.105 others(224): Show c.1056-4541_1056-4540insCATTATAGGCGTGAGCCACCATCCTA GCCCCCAAAGGATACTTCTAAGCCCATACAGAAATTCTTACTTGTAGAAG TTTTGACTACATACTATACAAAGTTTCTTACACTATTTCTAGAAGGAAAG GTTATAAAAAGCAAGCAATGTCAGCCTCCAATGAAAATAATAGCAAACTT CTAAGATACATTACTGGGATGTATCTTAA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(198): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATGTTATATATAATATAGATTATAT ATATAATATAGATTATATAATCTATATTATATATAATCTATATTATATAT AATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAA TATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	382	0.0026	205	c.37 others(216): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATGTTATATA TAATATAGATTATATATATAATATAGATTATATAATCTATATTATATATA ATCTATATTATATATAATATAGATTATATAATCTATATTATATATATAAT CTATATTATATATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATP13A3_chr3_194397677_194492002	194421153	A A	AGTTTATA others(198): Show AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03834.hp1 HG01192.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0017 a0001c0001t0015g0281 a0001c0001t0004g0017 a0001c0001t0015g0281	2	304	0.0066	205	c.331 others(224): Show c.3314-1187_3314-1186insAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA AACTATATATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79326064	G G	GGTGTTAG others(198): Show GGTGTTAGGGTGTCACCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCT CTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCT CCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCGT CATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0058 a0001c0024t0004g0058	1	298	0.0034	205	c.177 others(224): Show c.1774-3022_1774-3021insTCTCTGTACCCTCCCTCCCCTCACAT GGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGG GTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCC CTGCACACTCCCTCCCGTCATATAGTGTTAGGGTGTCACCTCTGTACCCT CCCTCCCCTCACATGGTGTTAGGGTGTCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326255	C C	CCCTCCCC others(198): Show CCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCT CACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTG TTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGT ACCCTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	298	0.0034	205	c.177 others(224): Show c.1774-2846_1774-2845insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTGTACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326334	C C	CCTCCCTC others(198): Show CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATG GTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTC TGCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0128 a0001c0003t0003g0128	1	298	0.0034	205	c.177 others(224): Show c.1774-2805_1774-2804insCCCTCCCCTCACATGGTGTTAGGGTG TCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTG TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCAC ATGGTGTTAGTGTGTCATCTCTGCACACT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(198): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCT CACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTG TTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGC ACACTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	298	0.0034	205	c.177 others(224): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCT GCACACTCCCTCCCCTCACATGGTGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(198): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCT CACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTG TTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGT ACCCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0109 a0001c0004t0002g0109	1	298	0.0034	205	c.177 others(224): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT GTACCCTCCCTCCCCTCACATGGTGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GCACACTC others(198): Show GCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0168 a0005c0009t0005g0168	1	298	0.0034	205	c.177 others(224): Show c.1774-2770_1774-2769insCACACTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCTTCC CCTCACATGGTGTTAGGGTGTCATCTCTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTC others(198): Show GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTT AGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG06807.hp1 others(1): Show HG02258.hp1 HG02976.hp1 HG06807.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0002 a0001c0004 a0001c0006 a0002c0002	a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 a0002c0002t0003	a0001c0004t0001g0016 a0001c0004t0003g0094 a0001c0006t0003g0281 others(1): Show a0001c0004t0001g0016 a0001c0004t0003g0094 a0001c0006t0003g0281 a0002c0002t0003g0198	4	298	0.0134	205	c.177 others(224): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTT others(198): Show GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(33): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02738.hp2 HG03492.hp1 HG03669.hp1 NA18941.hp2 NA18943.hp1 NA18960.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19010.hp2 NA19077.hp2 NA19086.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0038 others(1): Show a0001c0001 a0001c0015 a0001c0038 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0015t0001 a0001c0038t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0015t0001g0130 a0001c0038t0001g0265 a0002c0005t0001g0202	36	298	0.1208	205	c.177 others(224): Show c.1774-2764_1774-2763insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTATACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(198): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGT GTTAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG02040.hp2 others(7): Show HG00408.hp2 HG01106.hp1 HG02040.hp2 HG02056.hp2 HG02738.hp1 NA18946.hp1 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19074.hp1	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0003 a0001c0004 a0002c0002 others(1): Show a0001c0003 a0001c0004 a0002c0002 a0016c0028	a0001c0003t0003 a0001c0003t0013 a0001c0004t0003 others(2): Show a0001c0003t0003 a0001c0003t0013 a0001c0004t0003 a0002c0002t0014 a0016c0028t0012	a0001c0003t0003g0112 a0001c0003t0003g0122 a0001c0003t0003g0125 others(7): Show a0001c0003t0003g0112 a0001c0003t0003g0122 a0001c0003t0003g0125 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0013g0148 a0001c0004t0003g0110 a0001c0004t0003g0120 a0002c0002t0014g0187 a0016c0028t0012g0144	10	298	0.0336	205	c.177 others(224): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GAT1_chr11_134373508_134417242	134408230	T T	TATTCCAG others(198): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0030 a0001c0001t0035g0030	1	352	0.0028	205	c.-28 others(224): Show c.-282+3576_-282+3577insCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408393	C C	CTATTCCA others(198): Show CTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAG TGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGT GGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCC TGCACT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0334 a0002c0002t0002g0334	1	352	0.0028	205	c.-28 others(224): Show c.-282+3413_-282+3414insAGTGCAGGCTGTCCCACCTCCCTCCT CACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACT GGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGT GCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGT CCCACCTCCCTCCTCACCCCACTGGAATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408640	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT CCACCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0287 a0001c0001t0055g0287	1	352	0.0028	205	c.-28 others(224): Show c.-282+3166_-282+3167insAGGTGGAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408722	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT GCACCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	352	0.0028	205	c.-28 others(224): Show c.-282+3084_-282+3085insAGGTGCAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408722	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT CCACCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	352	0.0028	205	c.-28 others(224): Show c.-282+2880_-282+3084dupAGGTGGAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(198): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGAGAGGGGGAG GGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGAC TGGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0008 a0001c0005t0005g0008	1	298	0.0034	205	c.51+ others(218): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCC CTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(198): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAG GGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGAC TGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG00323.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0096 a0001c0001t0004g0097	2	298	0.0067	205	c.51+ others(218): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BRF1_chr14_105204286_105306001	105233213	C C	CGGGGGAC others(198): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTA GCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTG GGGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	72	0.0139	205	c.695 others(222): Show c.695-4505_695-4301dupCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGA CAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGG TGCCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233534	C C	CAGCCCCG others(198): Show CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	72	0.0139	205	c.695 others(222): Show c.695-4622_695-4621insTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(198): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19064.hp1 NA18950.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0235 a0001c0001t0002g0239	2	330	0.0061	205	c.431 others(222): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(198): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTACGTATAATATAATTTATAATTATATAT TTACGTATAATATAATTTATAATTATATACGTATAATATAATTTATATAA TATATGTATATAATATAATTTATAATTATATATTTATATATAATATAATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02965.hp2 HG03130.hp1 others(1): Show HG01255.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0027 a0002c0007t0013 a0002c0007t0027	a0002c0007t0013g0021 a0002c0007t0013g0155 a0002c0007t0027g0021 a0002c0007t0013g0021 a0002c0007t0013g0155 a0002c0007t0027g0021	4	372	0.0108	205	c.54 others(216): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTACGTATAATATAA TTTATAATTATATATTTACGTATAATATAATTTATAATTATATACGTATA ATATAATTTATATAATATATGTATATAATATAATTTATAATTATATATTT ATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C8orf82_chr8_144520733_144534111	144531241	A A	AGCGAGCA others(198): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	398	0.0025	205	c.-23 others(216): Show c.-2326_-2325insCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2131		chr8	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ACGGTGGT others(198): Show ACGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTG GTGGTGACGGTGGTGATGATGGTGGTGGTGGTGGTGACGGTGATGGTGGT AATGGTGGTGGTGGTGACGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGATGATGGTGATGTGATGGTGGTGGTGGTGACGGTGGTGATGATGGTGA TGGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03540.hp1 HG02818.hp2 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0047 a0001c0001t0017g0182 a0001c0001t0006g0047 a0001c0001t0017g0182	3	400	0.0075	205	c.363 others(222): Show c.363-1596_363-1595insCCACCATCACCATCATCACCACCGTCAC CACCACCACCATCACATCACCATCATCACCACCACCACCATCACCACCAC CATCACCACCGTCACCACCACCACCATTACCACCATCACCGTCACCACCA CCACCACCATCATCACCACCGTCACCACCACCACCATCACATCACCATCA CCACCATCATCACCATCACCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(198): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0013 a0001c0031t0013	a0001c0031t0013g0123 a0001c0031t0013g0123	1	218	0.0046	205	c.573 others(224): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2539214	C C	CTTCATAA others(198): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGAGTTTAAGGACTTAAA GAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03471.hp2 HG02647.hp2 HG02965.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0015 a0001c0008t0033 a0001c0001t0003 a0001c0001t0015 a0001c0008t0033	a0001c0001t0003g0063 a0001c0001t0015g0030 a0001c0008t0033g0051 a0001c0001t0003g0063 a0001c0001t0015g0030 a0001c0008t0033g0051	3	104	0.0289	205	c.139 others(226): Show c.1391-10689_1391-10688insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGAGTTTAAGGACTTAAAGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(198): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGG CGAGTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0332 a0002c0012t0002g0332	1	338	0.0030	205	c.300 others(222): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(198): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20752.hp1 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0012 a0001c0002t0002g0052 a0001c0002t0001g0012 a0001c0002t0002g0052	2	126	0.0159	205	c.453 others(224): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAA TATATTATATATTATATTATATAATATATTATATATTATATTATATAATA TATTATATATTATATTATATAATATATTATACATTATATTATATAATATA TTATATATTATATTATATTATATATTATATATTATATATTATATTATATA TTATATATTATATTATATATTATATTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(198): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp2 HG01981.hp1 others(4): Show HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02683.hp1 HG03831.hp2 HG04184.hp1	a0001 a0006 a0027 a0001 a0006 a0027	a0001c0001 a0001c0002 a0001c0021 others(2): Show a0001c0001 a0001c0002 a0001c0021 a0006c0023 a0027c0078	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0006c0023t0001 a0027c0078t0032	a0001c0001t0001g0137 a0001c0001t0001g0238 a0001c0002t0001g0144 others(4): Show a0001c0001t0001g0137 a0001c0001t0001g0238 a0001c0002t0001g0144 a0001c0002t0001g0192 a0001c0021t0001g0168 a0006c0023t0001g0197 a0027c0078t0032g0060	7	410	0.0171	205	c.-22 others(222): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(198): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC TCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0235 a0001c0003t0001g0235	1	410	0.0024	205	c.-22 others(222): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(198): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0283 a0002c0003t0001g0283	1	364	0.0028	205	c.234 others(222): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(198): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAA GAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0161 a0001c0002t0003g0161	1	364	0.0028	205	c.234 others(222): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT TCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(198): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGA GAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG AGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	364	0.0028	205	c.234 others(222): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(198): Show AGGGGACACCAGAGAGTAATGAGGGGGCATCAGAAGGTGATGGGACATCA GAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAGTAA TGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGGGGA CACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCAGAG AGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp2 NA18906.hp1 HG02922.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0063 a0001c0002t0002g0306 a0001c0002t0002g0012 a0001c0002t0002g0063 a0001c0002t0002g0306	3	316	0.0095	205	c.32 others(216): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGGCATCAGAA GGTGATGGGACATCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGG GACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAG AAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGT GAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCR9_chr3_45881543_45908174	45890272	A A	ATTTATAT others(198): Show ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATATAAATATATATATAACATA TATATATTTATATAAATATATATATAACATATATATTTATATAAATATAT ATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02258.hp1 others(11): Show HG01109.hp1 HG01884.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0082 a0001c0001t0002g0083 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0089	14	424	0.0330	205	c.-29 others(222): Show c.-29+3618_-29+3619insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATTTATATAAATATATATATGTT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCZ1_chr7_5893733_5931550	5930763	C C	CGTACACA others(198): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01981.hp2 HG02056.hp2 others(5): Show HG00621.hp2 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02165.hp1 HG02602.hp1 NA18939.hp2 NA19010.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0011 a0005c0009 a0001c0001 a0004c0011 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0004c0011t0004 others(1): Show a0001c0001t0002 a0001c0001t0004 a0004c0011t0004 a0005c0009t0007	a0001c0001t0002g0038 a0001c0001t0004g0034 a0001c0001t0004g0080 others(5): Show a0001c0001t0002g0038 a0001c0001t0004g0034 a0001c0001t0004g0080 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0004c0011t0004g0097 a0005c0009t0007g0101	8	114	0.0702	205	c.50 others(216): Show c.5076_*5077insGTACACAGCCCACCAAGATGCCTAGCAGCAAAGG TGTACATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGT ACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCC CCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG CCTAGCAGCAAAGGTGAGCAT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4214		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5930783	A A	ACCTAGCA others(198): Show ACCTAGCAGCAAAGGTGAGCACGTACACAGCCCCCCAAGATGCCTAGCAG CAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGA GCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACA CAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCC AAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	114	0.0088	205	c.50 others(216): Show c.5096_*5097insCCTAGCAGCAAAGGTGAGCACGTACACAGCCCCC CAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACC TAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAA AGGTGAGCATGTACACAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCA TGTACACAGCCCCCCAAGATG	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4234		chr7	TogoVar
CFAP46_chr10_132803392_132947570	132888336	A A	ACCTGCCA others(198): Show ACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTG CTGCCTGCACCCCGCCACCTTCACCCCTGCCACCTGCACCCCTGCCGCCT GTACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCC TGCAGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACC TGCACC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0068 a0068	a0068c0071 a0068c0071	a0068c0071t0002 a0068c0071t0002	a0068c0071t0002g0003 a0068c0071t0002g0003	1	246	0.0041	205	c.330 others(224): Show c.3305-2378_3305-2377insGGTGCAGGTGGCAGGGGTGAAGGTGG CAGGGGTGAAGGTGGCAGGTGCAGGCTGCAGGGGTGCAGGCGGCAGGGGT GAAGGTGGCAGGTGCAGGCTGCAGGGGTACAGGCGGCAGGGGTGCAGGTG GCAGGGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTGAAGGTGGCAGGG GTACAGGCGGCAGGGGTGAAGGTGGCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHST11_chr12_104451948_104767014	104544138	A A	AAAAAAAA others(198): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0005	1	240	0.0042	205	c.119 others(224): Show c.119-57765_119-57764insAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLDN7_chr17_7254903_7267478	7257617	T T	TTTTTTTT others(198): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0013 a0003c0005t0002g0013	1	418	0.0024	205	c.27 others(216): Show c.2756_*2757insTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		2285		chr17	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(198): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	268	0.0037	205	c.209 others(222): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)