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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Select column to sort.

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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
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(565): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACAC ACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(114): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA19089.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0014 a0002c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0009t0001 a0001c0014t0001 a0002c0005t0001 a0003c0006t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0002g0203 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0010 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0121 a0001c0001t0006g0018 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0123 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0003g0204 a0001c0002t0004g0005 a0001c0002t0004g0023 a0001c0002t0004g0061 a0001c0002t0004g0065 a0001c0002t0004g0095 a0001c0002t0004g0097 a0001c0003t0001g0114 a0001c0003t0004g0017 a0001c0003t0004g0045 a0001c0003t0004g0060 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0069 a0001c0003t0004g0102 a0001c0003t0004g0117 a0001c0003t0004g0143 a0001c0004t0001g0048 a0001c0004t0001g0136 a0001c0004t0001g0142 a0001c0009t0001g0001 a0001c0014t0001g0001 a0002c0005t0001g0001 a0002c0005t0001g0004 a0002c0005t0001g0082 a0002c0005t0001g0088 a0002c0005t0001g0135 a0003c0006t0004g0022 a0003c0006t0004g0062 a0003c0006t0004g0068	117	350	0.3343	572	c.-25 others(583): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(565): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAC ACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0024 a0001c0003t0004g0024	1	350	0.0029	572	c.-25 others(583): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(565): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATAGTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACAC ACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18979.hp1 NA18950.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0010g0116 a0001c0001t0001g0001 a0001c0001t0010g0116	2	350	0.0057	572	c.-25 others(583): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACCGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATAGTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(565): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACGTACACACATGCACACATGAACACATGTGCACACGTAC ACACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGC ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCAC ACATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGC ACATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACAC ACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	350	0.0029	572	c.-25 others(583): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACGTACACACATGCACACATGAACA CATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACATGCATACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACA TGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACA CATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(565): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGA TACGGACCCCCCCACACACACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCC ACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	292	0.0034	572	c.471 others(587): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGC CCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACC CACTTCCCAGATACGGACCCCCCCACACACACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(565): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	1	436	0.0023	572	c.-26 others(583): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(565): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	572	c.-26 others(583): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(565): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	572	c.-26 others(583): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(565): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAT ATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTACATAATTA TATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01081.hp1 others(3): Show HG00639.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG02280.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016	a0001c0001t0016 a0001c0002t0001 a0001c0005t0005 others(2): Show a0001c0001t0016 a0001c0002t0001 a0001c0005t0005 a0001c0006t0006 a0001c0016t0001	a0001c0001t0016g0058 a0001c0002t0001g0038 a0001c0002t0001g0097 others(3): Show a0001c0001t0016g0058 a0001c0002t0001g0038 a0001c0002t0001g0097 a0001c0005t0005g0093 a0001c0006t0006g0024 a0001c0016t0001g0036	6	106	0.0566	572	c.862 others(589): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTATATATATATTATTTATTATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATAATATATAATT ATATATTATTTATTATATAATATATAATTATATATTATTTATTATATAAT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATTATATATTATGTATTATATAATATATAATTATATATTATGTA TTATATAATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTACATAATTATATATTATTTATTACATAAGTATATATTA TTTATTACATAAGTATATATCACTTATTATATAATTGTATATAATTATTT ATTATATAATTGCATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(565): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAATGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03704.hp1 HG04115.hp2 HG03017.hp1 HG03704.hp1 HG04115.hp2	a0003 a0003	a0003c0008 a0003c0022 a0003c0026 a0003c0008 a0003c0022 a0003c0026	a0003c0008t0001 a0003c0022t0001 a0003c0026t0001 a0003c0008t0001 a0003c0022t0001 a0003c0026t0001	a0003c0008t0001g0014 a0003c0022t0001g0185 a0003c0026t0001g0012 a0003c0008t0001g0014 a0003c0022t0001g0185 a0003c0026t0001g0012	3	188	0.0160	572	c.147 others(591): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTC TTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTT CCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTT CTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCT TCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCT TCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTC TTCTTTCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCATTCTTCTTCT TTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTC TGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCC TTCTCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	467564	T T	TGGGGCCT others(565): Show TGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCCT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGG ACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	295	0.0034	572	c.809 others(589): Show c.809-3728_809-3727insGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(565): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	412	0.0024	572	c.205 others(587): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGC CGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCA CCGCCCAGGCCGACCCCTCCTCACTCCCCCACCGCCCACGCCGACCCCTC CTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACG CCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCC ACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTC CTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513816	T T	TGGGCGGT others(565): Show TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0118 a0005c0010t0001g0118	1	412	0.0024	572	c.205 others(589): Show c.2059-105_2059-104insCACGCCGACCCCTCCTCACTCCCCACCG CCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCA CTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGA CCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1289143	C C	CCCGTCCC others(565): Show CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	290	0.0035	572	c.166 others(591): Show c.1662+1113_1662+1114insCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(565): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTC ATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATT CTACGCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCC CCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACGCCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCC CACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0099 a0001c0013t0004g0099	1	280	0.0036	572	c.89- others(585): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAG AATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAAT GAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAG GAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGTAGAATGAGGA GAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGCGTAGAATGAGGAG AGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGT AGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGG GGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG GAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAG GGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SHANK1_chr19_50654255_50724802	50678939	A A	ATGGGGAG others(565): Show ATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG GTGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGT GATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAG ATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAG GGTGATGGGGAGGGGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0289 a0001c0003t0075g0289	1	316	0.0032	572	c.257 others(591): Show c.2578-6826_2578-6825insCACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCT CCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCC CTCTCCATCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACC CTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCT GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAC ACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCC CCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	432391	T T	TTAGAGGA others(565): Show TTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTG AGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGAT CGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCACTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCAT CGTGAGTGAGATAGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGG CGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAG ATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGG CCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAT AGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAG TGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAG ATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCG TGAGTGAGATCGTGAGTGAGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19091.hp2 HG02132.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0072 a0001c0003t0004g0108 a0001c0003t0002g0072 a0001c0003t0004g0108	2	212	0.0094	572	c.111 others(591): Show c.1111-1645_1111-1644insTCTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTC ACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTC ACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCT CCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTG CCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCA TCTATCTGCCCGGCCTCCTCTATCTCTCACTCACTATCTCACTCACGATG AAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCAC GATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATC TCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCAC TCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923608	C C	CATATATG others(565): Show CATATATGTACATATGTACATATATACATATGTATATATACATATATGTA CATATGTACATATATACATATGTATATATGCATATATGTACATATGTACA TATGTACATATGTATATATGCATATATGTACATATGTACATATGTACATA TGTATATATGCATATATGTACATATGTACATATGTACATATGTATATATG CATATATGTACATATGTACATATGTACATATGTATATATGCATATATGTA CATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACA TATGTACATATGTATATATGCATATATGTACATATGTACATATGTACATA TGTATATATGCATATATGTACATATGTACATATGTACATATGTATATATG CATATATGTACATATGTACATATGTACATATGTATATATGCATATATGTA CATATGTACATATGTACATATGTATATATGCATATATGTACATATGTACA TATGTACATATGTATATATGCATATATGTACATATGTACATATGTATATA TACGTATATGTACATACGTACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0107 a0001c0001t0016g0107	1	182	0.0055	572	c.173 others(591): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTACATATGTATATATGCATATATGTACATATGTACATA TGTACATATGTATATATGCATATATGTACATATGTACATATGTACATATG TATATATGCATATATGTACATATGTACATATGTACATATGTATATATGCA TATATGTACATATGTACATATGTACATATGTATATATGCATATATGTACA TATGTACATATGTATATATACGTATATGTACATACGTACATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC44A5_chr1_75197129_75616114	75280309	A A	AATATATA others(565): Show AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATAATTGTATATATTATATATTGTA TATATAATATAATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATAATATATATATTGTAT ATATTATATATTGTATATATAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	156	0.0064	572	c.176 others(589): Show c.176-5268_176-5267insATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATTATATTATATATACAA TATATAATATATACAATTATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATTATATTTTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAAAATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATATTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAATATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAAAATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATTTTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATATTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01928.hp1 others(4): Show HG00639.hp2 HG00738.hp1 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 NA18981.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0003c0004t0001g0008	7	340	0.0206	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAATATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATAATATATTATAATATATAATA TATTATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAAAATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATTATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(565): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATATTATAATATATAATA TATAATATATTATAATATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAAAATATTATATTTTATAATATATAAAATATATTAT ATTTTATAATATATAAAATATATTATATTTTATAATATATAATATATATT ATATTTTATAATATATAATATATATTATATTTTATAATATATAATATATA TTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	340	0.0029	572	c.17 others(591): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATTATATATTATAATATATTATATAT TATATATTATAATATATAATATATTATATATTATAAAATATAATATATTA TATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATATTATATA TTATAAAATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560661	C C	CGAGGCTC others(565): Show CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGT GTCATTTTCCTGCCCTGAGATGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	180	0.0056	572	c.637 others(591): Show c.637+11471_637+11472insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAG GTGTCATTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTTTCACTGCATTCTTG GAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCT CGGAGGAGGTGTCATTTTCCTGCCCTGAGATGTGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561248	A A	ATTCTTGG others(565): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACGTGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGATGTGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAT GTGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACGTGAGGCTCTCACTGCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0040 a0001c0002t0002g0041	2	180	0.0111	572	c.637 others(591): Show c.637+12068_637+12069insCTGCCCTGAGACGTGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGATGTGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAT GTGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561494	G G	GAGGCTCT others(565): Show GAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	180	0.0056	572	c.637 others(591): Show c.637+12303_637+12304insTGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGT CATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGT GTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAG GTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGG AGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGA GGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCG GAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTGTTCT CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561690	G G	GCCCTGAG others(565): Show GCCCTGAGACACGAGGCTCTGACTGCGTTTTCGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTGACTGCGTTT TCGGAGGAGGTGTCATTTTCATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0106 a0001c0001t0003g0107	2	180	0.0111	572	c.637 others(591): Show c.637+12506_637+12507insGACTGCGTTTTCGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGT TCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTGACTGC GTTTTCGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562028	A A	ATTCTTGG others(565): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCT CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC AAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	180	0.0056	572	c.637 others(591): Show c.637+12900_637+12901insCTGCCCTGAGACACAAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC AAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCC TGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168562054	G G	GCCCTGAG others(565): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTC TCGGAGGAGGTGTCATTTTCATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	180	0.0056	572	c.637 others(591): Show c.637+12862_637+12863insGAGGCTCTCACTGTGTTCTTGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTC GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCAT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGT GTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCATACCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246484593	C C	CATTGCAC others(565): Show CATTGCACTAGTTACACCTGAAAACACATCACTTCAACCAAAATACCTAA ACCATTGCACTAGTTACACCTGAAAACACATCACTTCAACCAAAATACCT AAACCATTGCACTAGTTACACCTGAAAACACATCACCTCAACCAAAATAC CTAAACCATTGTACTAGTTACACCTGAAAACACATCACCTCAACCAAAAT ACCTAAACTACTGCACTAGTTACACCTGAAAACACATCACCTCAACCAAA ATACCTAAACTACTGCACTAGTTACACCTGAAAACACATCGCCTCAACCA AAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATCGCCTCAAC CAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATCGCCTCA ACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATCGCCT CAACCAAAATACCTAAACTACTGCACTAGTTACACCTGAAAACACATGAC TTCAACCAAAATACCTAAACTATTGCACTAGTTACACCTGAAAAGACATC ACCTCAACCAAAATACCTAAACT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0072 a0004c0013t0002g0072	1	150	0.0067	572	c.164 others(591): Show c.164+22460_164+22461insAGTTTAGGTATTTTGGTTGAGGTGAT GTCTTTTCAGGTGTAACTAGTGCAATAGTTTAGGTATTTTGGTTGAAGTC ATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATTTTGGTTGAGG CGATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATTTTGGTTGA GGCGATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATTTTGGTT GAGGCGATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATTTTGG TTGAGGCGATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATTTT GGTTGAGGTGATGTGTTTTCAGGTGTAACTAGTGCAGTAGTTTAGGTATT TTGGTTGAGGTGATGTGTTTTCAGGTGTAACTAGTACAATGGTTTAGGTA TTTTGGTTGAGGTGATGTGTTTTCAGGTGTAACTAGTGCAATGGTTTAGG TATTTTGGTTGAAGTGATGTGTTTTCAGGTGTAACTAGTGCAATGGTTTA GGTATTTTGGTTGAAGTGATGTGTTTTCAGGTGTAACTAGTGCAAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190091	A A	AATGATAT others(565): Show AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATATAACAT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	356	0.0028	572	c.-11 others(593): Show c.-112+29167_-112+29168insTAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATATAACATATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPNS3_chr17_4428940_4493204	4462366	C C	CACCAATC others(565): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCAATCCATCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	362	0.0028	572	c.111 others(591): Show c.1113+9162_1113+9163insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462394	C C	CACCAATC others(565): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCAATCCATCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0002 a0001c0046t0002	a0001c0046t0002g0316 a0001c0046t0002g0316	1	362	0.0028	572	c.111 others(591): Show c.1113+9190_1113+9191insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4462446	C C	CACCAATC others(565): Show CACCAATCTATCCATCCATTCATCCACCAATCTATCCATCCATCCACCCA TCCACCAATCCATCCATCCACCAATCCATCCACCAATCCATCCATCCATC CATCCATCCACCCACCCACCAGTCCATCCACCCACCAATCCATCCATTCA TCCATCCACCCACCAATCCATCCACCCACCAATCCATCCATCCAGCCATC CATCCACCCACCCACCCACCCACCCATCCACCAATCCATCCATCCATCCA TCCACCCACCCACCCACCAATCCATCCATCCACCCACCCACCAATCCATC CATCCATCCATCCATCCACCCACCCACCTACCCACCCATCCATCCACCAA TCTATCCATCCATCCATCCATCCATCCATCCATCCACCAATCTATCCATC CATCCATCCACCCATCCGCCAATCCATCCATCCATCCATCCATCCACCAA TCCATCCACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACC CACCCACCAATGCATCCATCCACCCACCCACCCACCCACCCACCCATCCA TCCACCAGTCTATCAATCCATCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0038 a0001c0006t0001g0038	1	362	0.0028	572	c.111 others(591): Show c.1113+9242_1113+9243insCCAATCTATCCATCCATTCATCCACC AATCTATCCATCCATCCACCCATCCACCAATCCATCCATCCACCAATCCA TCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACCAGTCCATC CACCCACCAATCCATCCATTCATCCATCCACCCACCAATCCATCCACCCA CCAATCCATCCATCCAGCCATCCATCCACCCACCCACCCACCCACCCATC CACCAATCCATCCATCCATCCATCCACCCACCCACCCACCAATCCATCCA TCCACCCACCCACCAATCCATCCATCCATCCATCCATCCACCCACCCACC TACCCACCCATCCATCCACCAATCTATCCATCCATCCATCCATCCATCCA TCCATCCACCAATCTATCCATCCATCCATCCACCCATCCGCCAATCCATC CATCCATCCATCCATCCACCAATCCATCCACCCACCCATCCACCAATCCA TCCATCCACCCACCCACCCACCCACCCACCAATGCATCCATCCACCCACC CACCCACCCACCCACCCATCCATCCACCAGTCTATCAATCCATCTA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
TEX19_chr17_82354247_82368775	82361270	T T	TTTCCCTC others(565): Show TTTCCCTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG GTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAG TTTCCCTCAGGTTTCCTCAAGTTGCCTCAGTTTCCTTCAGGTTCCCTCAA TTTCCATCAGGTCCCCTCAGGCTCTGCCAGTTTCCTTCAGGTTCCCCCAG TTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCCTCAGGTTCCCTCA GTTTCCCCCAGTTTCTCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCCCA GTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCTCAGGTTTCCTCA AGTTGCCTCAGTTTCCTTCAGGTTCCCTCAATTTCCATCAGGTCCCCTCA GGCTCTGCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCA GTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCCCAGTTTCCCTCA AGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCTC AGGTTCCCCCAGTTTCCCTCAGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	380	0.0026	572	c.-27 others(589): Show c.-271-601_-271-600insGTTCCCTCAGTTTCCCTCAGGTTCCCCC AGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCC AGTTTCCCTCAGTTTCCCTCAGGTTTCCTCAAGTTGCCTCAGTTTCCTTC AGGTTCCCTCAATTTCCATCAGGTCCCCTCAGGCTCTGCCAGTTTCCTTC AGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAGTTTCCCCCAGTTTCCCCT CAGGTTCCCTCAGTTTCCCCCAGTTTCTCTCAGGTTCCCCCAGTTTCCCT CAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCCT CAGGTTTCCTCAAGTTGCCTCAGTTTCCTTCAGGTTCCCTCAATTTCCAT CAGGTCCCCTCAGGCTCTGCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCT CAGGTTCCCTCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCC CAGTTTCCCTCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCC TCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCTCAG	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCACCC others(565): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCC CTGTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTC CCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAG CCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0350 a0005c0005t0004g0350	1	370	0.0027	572	c.-10 others(583): Show c.-1039_-1038insTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGG CACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCT GGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAATAA others(565): Show CAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAA AGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAA TAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGG TGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAAC CAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGC AGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGAT GGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGAT TGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGATGGCAT ATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGG GCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	376	0.0027	572	c.137 others(589): Show c.1371-204_1371-203insTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCT GCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTG GTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCTGCCAC CACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTGGTTAT TTTTGTACCGCTCAGGGAACACATGCCCACAATCTTGTCCTGCCACCACT TTATGAGTATTTATTATTAAGAGTATATGCCATCCTCACTGGTTATTTTG TACCGCTCAGGGAACACATGCCCACAATCTTGTCCTGCCACCACTTTATG AGTATTTATTATTAAGAGTATATGCCATCCTCACTGGTTATTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
TH_chr11_2158929_2176815	2161747	C C	CGGGACCC others(565): Show CGGGACCCCTGTCCCCGGGACCCCTGTCCCCCGGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCAGACCCCTGTCCCCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCTCAGACCCCTGTCCC CACACCCCTGTCCCCCGGACCCCTGTCCCCGGGACCCCTGTCCCCAGGAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACC CCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCC CACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0025	2	388	0.0052	572	c.24 others(583): Show c.2485_*2486insCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT CCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCCCGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGT CTGAGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCCGGGGGACAGGGGTCCCGGGGACAGGGGTCCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2181		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747490	G G	GTCTGGGG others(565): Show GTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGA GTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0187 a0002c0002t0004g0187	1	314	0.0032	572	c.189 others(587): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM63C_chr14_77176798_77264495	77236197	A A	AATGGATG others(565): Show AATGGATGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACT GTGGTGGGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGA CTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGA GACTGTGGTGGGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATAGG GAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGATGGGGGTATG GGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTGGGTGGGGGGT ATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGATGGGTGGGGG TATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTGGGTGGG GGGTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGATGGGTG GGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTGGG TGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGATG GGTGGGGGTATGGGGAGACTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	322	0.0031	572	c.543 others(587): Show c.543-280_543-279insGAGACTGTGGTGGGTGGGGGGTATGGGGAG ACTGGTGGGTGGGGGGTATAGGGAGACTGTGATGGGTGGGGGTATGGGGA GACTGTGATGGATGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGG GAGACTGTGGTGGGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATA GGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGGTGGGGGTA TGGGGAGACTGTGGTGGGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGG TATAGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGGTGGG GGTATGGGGAGACTGTGGTGGGTGGGGGGTATGGGGAGACTGGTGGGTGG GGGGTATAGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGATGGA TGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTGGTG GGTGGGGGGTATGGGGAGACTGGTGGGTGGGGGGTATAGGGAGACTGTGA TGGGTGGGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGG	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(565): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATAATATATATATATAAAAA TTATATATATATATTATATATATATAAAAATTATATATATATATTATATA TATATAAAAATTATATATATATATTATATATATATAAAAATTATATATAT ATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	272	0.0037	572	c.29 others(583): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATAAT ATATATATATAAAAATTATATATATATATTATATATATATAAAAATTATA TATATATATTATATATATATAAAAATTATATATATATATTATATATATAT AAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3269201	T T	TCTCTGTG others(565): Show TCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTC TCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCG TGCGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTG CGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTG TTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCATT CCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCC TGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTG CAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTGTGTTTCTCCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCT GCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGC CCTCCGTGCATTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCC TCTGTGGGTTCCTGCAGCCTGCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0109 a0001c0002t0062 a0001c0002t0109	a0001c0002t0062g0090 a0001c0002t0109g0286 a0001c0002t0062g0090 a0001c0002t0109g0286	2	288	0.0069	572	c.64- others(587): Show c.64-9195_64-9194insCGTGCGTTCCTGCAGCCTGCCCTCTCTGTG TTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTT CCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTGCGTTCC TGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTG CAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCATTCCTGCA GCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGC CTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCT GCCCTCTGTGCGTTCCTGCAGCCTGCCCTCTGTGTTTCTCCAGCCTGCCC TCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTC TCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCG TGCATTCCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCTGTG GGTTCCTGCAGCCTGCCCTCTGTGTTCCTGCAGCCTGCCCTC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTLL8_chr22_50013575_50063298	50028623	C C	CCCCCACA others(565): Show CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACAC TCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTA AAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCC TGAAGACCCACACATACCCTCGTAAAGACCCCCATCACACCGTCCTGAAG ACCCACACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCAC ACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCACACATAC CCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAGAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGA CCCCCGTCATACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	224	0.0045	572	c.225 others(591): Show c.2251+1806_2251+1807insTCTTCAGGATGGTATGACGGGGGTCT TTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTCTACGA GTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTA TGTGTGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTT CAGGACGGTGTGATGGGGGTCTTTACGAGGGTATGTGTGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTG ATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGGTCTCTACGAGTGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238880217	A A	ATTAGTGT others(565): Show ATTAGTGTTAGTATTTATTAGTATTAGTGTTAGTATTTATTGGTATTAGT GTTAGTACTAGTATTTATTAGTGTTAGTGTTATTGTTAGTGTTAGTGTTG GTATTTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGTATTTATTT GTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGTGTTAGTGT TGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATTAGTATTAG TTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATTAGTATTAG TGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTA TTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTAGTATTT ATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGTAT TAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTAGTATTA ATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATATTAGCAT TAGTGTCAGTGTTAGTATTAGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01975.hp1 HG02148.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0131 a0001c0001t0002g0152 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0131 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0201	6	338	0.0178	572	c.36 others(591): Show c.36-29025_*36-28454dupGTTAGTATTTATTGGTATTAGTGTTA GTACTAGTATTTATTAGTGTTAGTGTTATTGTTAGTGTTAGTGTTGGTAT TTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGTATTTATTTGTGT TAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGTGTTAGTGTTGGT AATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTTAC TATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATTAGTATTAGTGTG TTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTATTAC TGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTAGTATTTATTA GTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGTATTAGT GTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTAGTATTAATGT TAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATATTAGCATTAGT GTCAGTGTTAGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP14_chr18_153557_219629	219362	C C	CAAAAATA others(565): Show CAAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATA AAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAA ATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTG GTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAAC CAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGC AGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTG AGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGAC AAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAAATAACCAGTGAGGA TGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGA TTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAACCAGTGAGGATGGCA TATACTCTTAATAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTG GGCATGTGTTCCCTGAGCGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0199 a0001c0001t0029g0199	1	380	0.0026	572	c.80 others(583): Show c.8078_*8079insAAAAATAACCAGTGAGGATGGCATATACTCTTAA TAATAAATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTC CCTGAGCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATA AATACTCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGA GCGGTACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATAC TCATAAAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGT ACAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATA AAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAA AATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGT GGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAAATAA CCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTGGTGG CAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTAC	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding		4734		chr18	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(565): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGTGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0002 a0002c0108t0002	a0002c0108t0002g0001 a0002c0108t0002g0001	1	341	0.0029	572	c.35 others(581): Show c.354_*355insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGTGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(565): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC AGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTT TAAGACAGAGTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCC GGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0158 a0001c0004t0027g0158	1	388	0.0026	572	c.272 others(589): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTA ATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGACTCTGTCTTAAAAAA AAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCTGAGCA CTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGAAGCCTGAGG CAGGAGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar

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Search Results (Total: 10000 hits)