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
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(301): Show ACCTCAGTGTGCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0008 a0001c0002t0003g0008	1	100	0.0100	308	c.141 others(329): Show c.14152-1810_14152-1809insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTCAGTGTGCTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(301): Show ACCTCAGTGTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0037 a0002c0025 a0001c0037 a0002c0025	a0001c0037t0010 a0002c0025t0040 a0001c0037t0010 a0002c0025t0040	a0001c0037t0010g0037 a0002c0025t0040g0003 a0001c0037t0010g0037 a0002c0025t0040g0003	2	100	0.0200	308	c.141 others(329): Show c.14152-1816_14152-1815insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCAGTGTG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934736	G G	GGGGGAGG others(301): Show GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGG GGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	434	0.0023	308	c.843 others(325): Show c.843-1024_843-1023insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCAGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65971088	A A	AGCTGAGG others(301): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	384	0.0026	308	c.157 others(327): Show c.1572+3300_1572+3301insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(301): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTG GAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATA GCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAG TCCATAGCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01256.hp1 HG01099.hp1 HG01192.hp2 HG01256.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0004 a0002c0002t0004 a0005c0006t0004 a0001c0001t0004 a0002c0002t0004 a0005c0006t0004	a0001c0001t0004g0216 a0002c0002t0004g0215 a0005c0006t0004g0213 a0001c0001t0004g0216 a0002c0002t0004g0215 a0005c0006t0004g0213	3	224	0.0134	308	c.55+ others(325): Show c.55+44322_55+44323insTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGAC TCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCT ATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCC AATGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAA AACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTAG ACAGGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	414	0.0024	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCCTGTCTAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAA AACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTA GACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04199.hp2 NA18972.hp2 others(5): Show HG04184.hp1 HG04199.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18991.hp2 NA19030.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0008 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0004c0004t0001 a0004c0004t0016	a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0245 others(5): Show a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0269 a0001c0001t0008g0214 a0004c0004t0001g0323 a0004c0004t0016g0289	8	414	0.0193	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(301): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTA GACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATG GCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGC CTCCAAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01175.hp1 HG02027.hp1 others(13): Show HG00597.hp1 HG01175.hp1 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG03516.hp1 HG03688.hp1 NA18950.hp2 NA18956.hp2 NA18968.hp2 NA18975.hp1 NA18979.hp1 NA19000.hp1 NA19000.hp2 NA19067.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0006 a0001c0001 a0004c0004 a0004c0006	a0001c0001t0001 a0001c0001t0017 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0017 a0004c0004t0001 a0004c0006t0012	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0119 a0001c0001t0001g0176 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0017g0218 a0004c0004t0001g0295 a0004c0004t0001g0304 a0004c0006t0012g0091	16	414	0.0387	308	c.678 others(323): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCT AGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCT GGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCIMP_chr17_5203920_5239860	5232350	A A	ATAAACAG others(301): Show ATAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAA ACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCA GTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAAC AGTGCAGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	386	0.0026	308	c.21+ others(323): Show c.21+2384_21+2385insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTACACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTT TATACTGCACTGTTTACACTGCACTGTTTACACTGCACTGTTTACACTGC ACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTA CACTGCACTGTTTATACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(301): Show GGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAGGGGGGT GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	290	0.0035	308	c.464 others(321): Show c.464+91_464+92insTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGG GGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGA GGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTCGGG others(301): Show GGGTCGGGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0155 a0003c0004t0003g0155	1	290	0.0035	308	c.464 others(321): Show c.464+83_464+84insTCGGGGGGGGGTTGGGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTTGAGTGAGGGGGGTGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GAGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GGGGGTTG others(301): Show GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGT TGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	290	0.0035	308	c.464 others(321): Show c.464+86_464+87insGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGG GGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGGTTGGGTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCT others(301): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0256 a0029c0025t0001g0256	1	290	0.0035	308	c.166 others(325): Show c.1662+421_1662+422insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	52923161	T T	TAAAAAAA others(301): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0047 a0001c0004t0011g0048 a0001c0004t0011g0047 a0001c0004t0011g0048	2	280	0.0071	308	c.-42 others(319): Show c.-4236_-4235insAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding		4114		chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(301): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01069.hp2 others(8): Show HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01099.hp1 HG01928.hp2 HG01993.hp1 HG02056.hp1 HG03942.hp2 HG04199.hp2 NA19060.hp2 NA19088.hp1	a0005 a0011 a0012 a0005 a0011 a0012	a0005c0005 a0011c0011 a0012c0013 a0005c0005 a0011c0011 a0012c0013	a0005c0005t0000 a0011c0011t0000 a0012c0013t0000 a0005c0005t0000 a0011c0011t0000 a0012c0013t0000	a0005c0005t0000g0000 a0011c0011t0000g0000 a0012c0013t0000g0000 a0005c0005t0000g0000 a0011c0011t0000g0000 a0012c0013t0000g0000	11	469	0.0235	308	c.22 others(319): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SDK1_chr7_3296252_4274000	3480622	T T	TAAAAGCT others(301): Show TAAAAGCTTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCC GACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0062 a0019c0051t0062	a0019c0051t0062g0019 a0019c0051t0062g0019	1	116	0.0086	308	c.299 others(329): Show c.299-138447_299-138446insGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCTC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	G G	GTATTATT others(301): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATATATTATTATATTATATTTACATATAATATAT TATTATATTATATTTACATATAATATATTATTATATTATATTTACATATA ATATATTATTATATTATATTTACATATAATATATTATTATATTATATTTA CATATAATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0070 a0001c0004t0012g0070	1	276	0.0036	308	c.453 others(327): Show c.453+23998_453+23999insTATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATATATTATAT GTAAATATAATATAATAATATATTATATGTAAATATAATATAATAATATA TTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAAT AATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85113608	T T	TAAAAATA others(301): Show TAAAAATACAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATAGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04228.hp1 NA19000.hp2 others(1): Show HG02965.hp2 HG04228.hp1 NA19000.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0008g0248	4	266	0.0150	308	c.151 others(325): Show c.151+8132_151+8133insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAATTTTTGTATTTTT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	3/18			chr7	TogoVar
SEMA4F_chr2_74649247_74688841	74664439	T T	TGTGCATA others(301): Show TGTGCATAAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0016 a0001c0006t0005 a0001c0006t0016	a0001c0006t0005g0136 a0001c0006t0016g0135 a0001c0006t0005g0136 a0001c0006t0016g0135	2	296	0.0068	308	c.550 others(325): Show c.550+1628_550+1629insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATTTTAGCCGGGGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGTGCATAAATTTTT	SEMA4F	ENSG00000135622.13	transcript	ENST00000357877.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA6A_chr5_116438555_116579823	116496201	C C	CAAAAACT others(301): Show CAAAAACTTAACCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG03225.hp2 HG02886.hp2 HG03225.hp1 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0006 a0001c0001 a0001c0013 a0004c0006	a0001c0001t0005 a0001c0013t0017 a0004c0006t0042 a0001c0001t0005 a0001c0013t0017 a0004c0006t0042	a0001c0001t0005g0155 a0001c0013t0017g0154 a0004c0006t0042g0156 a0001c0001t0005g0155 a0001c0013t0017g0154 a0004c0006t0042g0156	3	304	0.0099	308	c.342 others(321): Show c.342+49_342+50insTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTGGGTTAAGTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	5/18			chr5	TogoVar
SGMS2_chr4_107819932_107920047	107911811	T T	TAAAAAAT others(301): Show TAAAAAATCTGATCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0040 a0001c0001t0011g0170 a0001c0001t0011g0040 a0001c0001t0011g0170	2	270	0.0074	308	c.12 others(319): Show c.1273_*1274insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAATCTGATCAG	SGMS2	ENSG00000164023.15	transcript	ENST00000690982.1	protein_coding	7/7	1274	INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BGRL2_chr6_79626329_79708655	79689230	T T	TAAAAATT others(301): Show TAAAAATTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTGAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0173 a0001c0001t0040g0173	1	348	0.0029	308	c.232 others(325): Show c.232-7245_232-7244insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTGAAAAAAAAAAAAAAAAAAAAAATTTCT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BP1_chr22_37634669_37661117	37656829	A A	AAATTTTT others(301): Show AAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0001 a0013 a0001 a0013	a0001c0011 a0013c0027 a0001c0011 a0013c0027	a0001c0011t0003 a0013c0027t0003 a0001c0011t0003 a0013c0027t0003	a0001c0011t0003g0091 a0013c0027t0003g0168 a0001c0011t0003g0091 a0013c0027t0003g0168	2	412	0.0049	308	c.11 others(319): Show c.1145_*1146insAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCC	SH3BP1	ENSG00000100092.24	transcript	ENST00000649765.2	protein_coding		713		chr22	TogoVar
SIPA1L2_chr1_232392965_232635133	232452014	T T	TAAAAATG others(301): Show TAAAAATGTGGCATTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG03486.hp2 others(1): Show HG02647.hp2 HG03209.hp1 HG03486.hp2 NA20300.hp2	a0002 a0002	a0002c0031 a0002c0049 a0002c0060 a0002c0031 a0002c0049 a0002c0060	a0002c0031t0001 a0002c0031t0017 a0002c0049t0001 others(1): Show a0002c0031t0001 a0002c0031t0017 a0002c0049t0001 a0002c0060t0003	a0002c0031t0001g0078 a0002c0031t0017g0099 a0002c0049t0001g0081 others(1): Show a0002c0031t0001g0078 a0002c0031t0017g0099 a0002c0049t0001g0081 a0002c0060t0003g0275	4	292	0.0137	308	c.309 others(327): Show c.3096-6229_3096-6228insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCAATGCCACATTTTT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	10/22			chr1	TogoVar
SKAP1_chr17_48128442_48435214	48427627	T T	TAAAAGCA others(301): Show TAAAAGCACACACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp2 NA18522.hp2 HG02486.hp1 HG03579.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0229 a0002c0004t0001g0227 a0002c0004t0001g0228 a0002c0004t0001g0229	3	292	0.0103	308	c.46+ others(323): Show c.46+2447_46+2448insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGTGTGTGCTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48427627	T T	TAAAAGCA others(301): Show TAAAAGCACACACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(21): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02451.hp2 HG02572.hp2 HG02698.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp2 NA18953.hp1 NA18954.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0002c0002 a0002c0004 others(2): Show a0001c0005 a0002c0002 a0002c0004 a0003c0006 a0004c0007	a0001c0005t0001 a0001c0005t0002 a0002c0002t0001 others(3): Show a0001c0005t0001 a0001c0005t0002 a0002c0002t0001 a0002c0004t0001 a0003c0006t0001 a0004c0007t0001	a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 others(21): Show a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0002g0205 a0001c0005t0002g0224 a0002c0002t0001g0203 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0209 a0002c0004t0001g0210 a0002c0004t0001g0213 a0002c0004t0001g0216 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0223 a0002c0004t0001g0225 a0003c0006t0001g0204 a0003c0006t0001g0208 a0004c0007t0001g0226	24	292	0.0822	308	c.46+ others(323): Show c.46+2447_46+2448insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGTGTGTGCTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A7_chr4_146248981_146526940	146286439	T T	TGTGTTTG others(301): Show TGTGTTTGGAGTGGTGAGAAGGACTGTGTTTGGAGTGGTGAGAAGGACTC TGGAGTGGTGAGAGGGACTGAGTTTGGAGTGGTGAGAAGGACTGAGTTTG GAGTGGTGAGAAGGACTGAGTTTGGAGTGGTGAGAAGGACTGTGTTTGGA GTGGTGAGGGCTTGTGTTTGGAGTGGTGAGAAGGACCATATTTGCAGTGG TGAGAAGGACTGTTTGAAGTGATGAGAAGGACTGTGTTTGGAGTGGTGAG AAGGACTGCGTTTGGAGTGGTGAGAAGGACTGAACTGGGAGAATTGAGAA AGACTGAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03704.hp1 NA18612.hp2 others(2): Show HG02630.hp1 HG03704.hp1 NA18612.hp2 NA18967.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0082 a0001c0001t0010g0114 a0001c0001t0010g0161 others(2): Show a0001c0001t0010g0082 a0001c0001t0010g0114 a0001c0001t0010g0161 a0001c0001t0010g0162 a0001c0001t0010g0172	5	244	0.0205	308	c.774 others(325): Show c.774-3175_774-3174insGTTCAGTCTTTCTCAATTCTCCCAGTTC AGTCCTTCTCACCACTCCAAACGCAGTCCTTCTCACCACTCCAAACACAG TCCTTCTCATCACTTCAAACAGTCCTTCTCACCACTGCAAATATGGTCCT TCTCACCACTCCAAACACAAGCCCTCACCACTCCAAACACAGTCCTTCTC ACCACTCCAAACTCAGTCCTTCTCACCACTCCAAACTCAGTCCTTCTCAC CACTCCAAACTCAGTCCCTCTCACCACTCCAGAGTCCTTCTCACCACTCC AAACACAGTCCTTCTCACCACTCCAAACAC	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	9/11			chr4	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(301): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02486.hp2 others(7): Show HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03579.hp2 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0004 a0002c0002 a0006c0009 a0001c0004 a0002c0002 a0006c0009	a0001c0004t0001 a0001c0004t0009 a0001c0004t0022 others(4): Show a0001c0004t0001 a0001c0004t0009 a0001c0004t0022 a0001c0004t0023 a0001c0004t0024 a0002c0002t0030 a0006c0009t0009	a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0009g0264 others(7): Show a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 a0001c0004t0022g0267 a0001c0004t0023g0058 a0001c0004t0024g0057 a0002c0002t0030g0150 a0006c0009t0009g0263	10	318	0.0315	308	c.949 others(323): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(301): Show AATGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATG GATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATG GTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGG AATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATA GATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGG ATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGG ATGGATGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(58): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02818.hp2 HG02886.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0012 a0001c0001 a0001c0003 a0005c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0005c0012t0003	a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0095 others(30): Show a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0003t0001g0122 a0001c0003t0003g0001 a0001c0003t0003g0004 a0001c0003t0003g0008 a0001c0003t0003g0013 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0115 a0001c0003t0003g0116 a0001c0003t0003g0118 a0001c0003t0003g0123 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0140 a0001c0003t0003g0219 a0005c0012t0003g0028	61	390	0.1564	308	c.831 others(325): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATG GATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGA ATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGG AATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGG ATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGG ATGGATGGATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(301): Show TGGATGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGA TGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGA TGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAAT GGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGCAA TAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGAT GGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGAT GGATGGATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01081.hp1 others(16): Show HG00609.hp2 HG01074.hp1 HG01081.hp1 HG01243.hp1 HG02027.hp1 HG02886.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp1 NA18994.hp1 NA18997.hp2 NA18999.hp2 NA19005.hp2 NA19010.hp2 NA19058.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0006 a0001c0002 a0001c0007 a0002c0006	a0001c0002t0002 a0001c0007t0002 a0002c0006t0002 a0001c0002t0002 a0001c0007t0002 a0002c0006t0002	a0001c0002t0002g0003 a0001c0002t0002g0231 a0001c0002t0002g0255 others(9): Show a0001c0002t0002g0003 a0001c0002t0002g0231 a0001c0002t0002g0255 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0007t0002g0240 a0002c0006t0002g0003	19	390	0.0487	308	c.831 others(325): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATG GATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGG ATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAG TTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGA ATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGA ATGGATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596249	T T	TGGATGGA others(301): Show TGGATGGATGGATGGAATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGA TGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAAT GGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAA TAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGAT GGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGAT GGATGGATG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	390	0.0026	308	c.831 others(325): Show c.831-2252_831-2251insATGGATGGATGGATGGGATGGATGGATG GATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATG GATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGG ATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAG TTGGAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGA ATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGA ATGGATGGATGGATGGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596253	T T	TGGATGGA others(301): Show TGGATGGATGGAATGGATGGATGGATGGATGGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGA TGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAAT GGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGCAA TAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGAT GGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGAT GGATGGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01169.hp2 others(9): Show HG00280.hp2 HG00323.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG02080.hp1 HG02735.hp1 HG03704.hp1 NA19077.hp1 NA19079.hp2 NA19089.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0046 a0001c0002t0002g0047 others(5): Show a0001c0002t0002g0019 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0224 a0001c0002t0002g0239	12	390	0.0308	308	c.831 others(325): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGGATGGATG GATGGATGGATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATG GATGGATGGATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGG ATGGATGAATGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGG ATAGTTGCAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAG TTGAATGGATGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGA TGGAATGGATGGATGGATGGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC27A1_chr19_17465524_17511168	17509607	T T	TTTTTTTT others(301): Show TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCGTTGCCCAGGCT GGAGTGCAATGGCGTGATCTCAGCTCACCACAACCTCCACCTCCGGGGTT CAAGCCATTCTCCTGCCTCCGACTCCCGAATAGCTGGGATTACAGGCATG AGCTACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCT ACTTCATTTGAGAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCT ACCTTGGCCTGCCAAAGTGTTGGGATTACAGGCGTGAAGCACCACGCCTG GCCTATTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG02970.hp1 HG01891.hp1 HG02922.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0147 a0001c0001t0008g0178 a0001c0001t0021g0084 a0001c0001t0008g0147 a0001c0001t0008g0178 a0001c0001t0021g0084	3	350	0.0086	308	c.49 others(319): Show c.4995_*4996insTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTG CTCGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACCACAACC TCCACCTCCGGGGTTCAAGCCATTCTCCTGCCTCCGACTCCCGAATAGCT GGGATTACAGGCATGAGCTACTACGCCTGGCTAATTTTTGTATTTTTAGT AGAGATGGGGTTTCTACTTCATTTGAGAGGCTGGTCTCGAACTCCTCACC TCAGGTGATCTGCCTACCTTGGCCTGCCAAAGTGTTGGGATTACAGGCGT GAAGCACCACGCCTGGCCTATTCC	SLC27A1	ENSG00000130304.17	transcript	ENST00000252595.12	protein_coding		3440		chr19	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(301): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0155 a0001c0001t0025g0155	1	182	0.0055	308	c.100 others(327): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280434	T T	TTATATAT others(301): Show TTATATATTGTATATATAATATATATATTGTATATATTATATATTGTATA TATAATATATATATTGTATATATTATATATACAATATATAATATATATAT TGTATATATTATATATTGTATATATAATATATATATTGTATATATTATAT ATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAAT ATATATATTGTATATATTATATATTGTATATATAATATATATATTGTATA TATTATATATACAATATATAATATATATATTGTATATATAATATATATAT TGTATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02615.hp1 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0151 a0001c0003t0001g0130 a0001c0003t0001g0151	2	156	0.0128	308	c.176 others(325): Show c.176-5393_176-5392insTTATATACAATATATATATTATATATAC AATATATATATTATATATTGTATATATAATATATACAATATATATATTAT ATATACAATATATAATATATACAATATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATTATATATTG TATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATTATATATACAATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC4A10_chr2_161619416_161990270	161908735	A A	ACAGAATG others(301): Show ACAGAATGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	118	0.0085	308	c.199 others(327): Show c.1997+2861_1997+2862insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCAGAATGCCTTTT	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(301): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19006.hp2 NA19007.hp1 NA18979.hp2 NA19006.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0216 a0002c0002t0003g0226 a0002c0002t0003g0227 a0002c0002t0003g0216 a0002c0002t0003g0226 a0002c0002t0003g0227	3	420	0.0071	308	c.183 others(327): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(301): Show TCATACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	190	0.0053	308	c.647 others(327): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(301): Show TCATACATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00642.hp2 others(22): Show HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02572.hp1 HG02683.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03239.hp2 NA18946.hp2 NA18965.hp2 NA18970.hp1 NA18979.hp2 NA19064.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0015 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0030 a0002c0003t0003 a0002c0015t0035 a0004c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0046 others(22): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0088 a0001c0001t0003g0071 a0001c0001t0003g0102 a0001c0001t0005g0133 a0001c0001t0009g0168 a0001c0001t0010g0021 a0001c0001t0025g0125 a0001c0001t0048g0004 a0001c0002t0001g0070 a0001c0002t0001g0117 a0001c0002t0001g0135 a0001c0002t0002g0047 a0001c0002t0002g0103 a0001c0002t0002g0108 a0001c0002t0002g0134 a0001c0002t0002g0146 a0001c0002t0003g0104 a0001c0002t0011g0141 a0001c0002t0030g0078 a0002c0003t0003g0110 a0002c0015t0035g0085 a0004c0008t0001g0127	25	190	0.1316	308	c.647 others(327): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMU1_chr9_33036765_33081674	33052241	T T	TAAGATGT others(301): Show TAAGATGTTATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGGCCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0137 a0001c0002t0014g0137	1	418	0.0024	308	c.129 others(325): Show c.1290+881_1290+882insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCCGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGATAACATCTT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(301): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0070 a0006c0021t0070	a0006c0021t0070g0103 a0006c0021t0070g0103	1	168	0.0060	308	c.548 others(327): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837279	T T	TTATATTT others(301): Show TTATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGATAT ATTTATATTTATATAATATATAAGATATATTTATATTTATATAATATATA AGATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAA TATATAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	212	0.0047	308	c.481 others(325): Show c.481+8396_481+8703dupTCTTATATATTATATAAATATAAATATA TCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATATCTT ATATATTATATAAATATAAATATATCTTATATATTATATAAATATAAATA TATCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPAAR_chr9_35904490_35916686	35914181	T T	TGTATTTT others(301): Show TGTATTTTTTTATGCTGTAGTGTGTGTAAGTTGTATGTGTGTAGTGTGTG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGT AGTGAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGT GTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGATGTGTGTGTAAGTTGT ATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGT ATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	420	0.0048	308	c.34 others(319): Show c.3490_*3491insGTATTTTTTTATGCTGTAGTGTGTGTAAGTTGTA TGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTAGTGTGT GTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGAT GTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2496		chr9	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(301): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCC CCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCA CCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	308	c.54 others(319): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPINDOC_chr11_63808456_63832716	63820243	T T	TAAAAATT others(301): Show TAAAAATTAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	392	0.0026	308	c.934 others(325): Show c.934+1251_934+1252insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAATTAGC	SPINDOC	ENSG00000168005.9	transcript	ENST00000294244.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPINK6_chr5_148198042_148220137	148210246	A A	ATTTCTGC others(301): Show ATTTCTGCATGCATATGTATGTGTTTCTGCATACATATATATGTATGTGT TTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT GTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT ATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATAT GTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATAT ATGTATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	438	0.0023	308	c.82- others(323): Show c.82-3655_82-3654insGCATATGTATGTGTTTCTGCATACATATAT ATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATAT ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATAC ATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCAT ACATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGC ATACATATATATGTATGTGTTTCTGCAT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(301): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCA CGCAGTTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0005 a0010c0016t0001g0005	1	356	0.0028	308	c.245 others(325): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGT TGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89848906	G G	GTTCCAGG others(301): Show GTTCCAGGGCCTTCTGCAGCGTTTCTGCAGGACAGATGAGGCAGGTTCCA GGGCCTTCTGCAGTGTTTCTACAGGACAGACGAGGCAGGTTCCAGGGCCT TCTGTGGTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGACCTTCTGTG GTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCTTTT TTGCAGGTCAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCGTTTCTGCAG GACAGATGAGGCAGGTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGACAGA TGAGGCAGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0295 a0003c0005t0001g0295	1	356	0.0028	308	c.289 others(325): Show c.289-1380_289-1379insCGTTTCTGCAGGACAGATGAGGCAGGTT CCAGGGCCTTCTGCAGTGTTTCTACAGGACAGACGAGGCAGGTTCCAGGG CCTTCTGTGGTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGACCTTCT GTGGTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCT TTTTTGCAGGTCAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCGTTTCTG CAGGACAGATGAGGCAGGTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGAC AGATGAGGCAGTTTCCAGGGCCTTCTGCAG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89848906	G G	GTTCCAGG others(301): Show GTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGACAGATGAGGCAGGTTCCA GGGCCTTCTGCAGTGTTTCTACAGGACAGACGAGGCAGGTTCCAGGGCCT TCTGTGGTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGACCTTCTGTG GTGTTTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCTTTT TTGCAGGTCAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCGTTTCTGCAG GACAGATGAGGCAGGTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGACAGA TGAGGCAGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0311 a0003c0005t0001g0311	1	356	0.0028	308	c.289 others(325): Show c.289-1363_289-1362insTGAGGCAGGTTCCAGGGCCTTCTGCAGT GTTTCTACAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGTGGTGTTTCT GCAGGACAGACGAGGCAGGTTCCAGGACCTTCTGTGGTGTTTCTGCAGGA CAGACGAGGCAGGTTCCAGGGCCTTCTGCGGCTTTTTTGCAGGTCAGACG AGGCAGGTTCCAGGGCCTTCTGCGGCGTTTCTGCAGGACAGATGAGGCAG GTTCCAGGGCCTTCTGCAGTGTTTCTGCAGGACAGATGAGGCAGTTTCCA GGGCCTTCTGCAGTGTTTCTGCAGGACAGA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(301): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0100 a0007c0008t0001g0100	1	260	0.0039	308	c.138 others(327): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar

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Search Results (Total: 10000 hits)