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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ATP11A_chr13_112685038_112892168	112872978	G G	GCAGTGTG others(1067): Show GCAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGG TGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGT GTGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGCG GTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTC TTCCTGAGTGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATG TGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGG TGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCT TCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGT GGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGG TGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCT CCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGAT GTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGT GTGAGGTGTGGCTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTT CCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTG TGAGGTGTGGCTTTGTCTTCCTGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0077 a0001c0006t0001g0077	1	254	0.0039	1074	c.305 others(1091): Show c.3058-594_3058-593insAGTGTGAGGTGTGGCTTTGTCTCCCGAA GGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGT GTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAATGTTGTGAGGTG TTGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAATG GTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATGTGAGGTATGGCTTTGTC TTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTG TGGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGG TGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCT TCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGT GGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGG TGTGAGGTGTGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTT CCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGATGTGAGGTGTGGCTTTGTCTTCCTGAGTGGT GTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTT CCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCAGT GTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAAC		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112872978	G G	GCGGTGTG others(1067): Show GCGGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTG TCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGG TGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGT GTGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTG GTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTC TTCCTGAGTGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATG TGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGG TGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCT TCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGT GGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGG TGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCT CCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGAT GTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTTCTGGAGAGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGT GTGAGGTGTGGCTTGGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTT CCTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTG TGAGGTGTGGCTTTGTCTTCCTGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 NA19043.hp2 HG03130.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0067 a0001c0001t0021 a0001c0001t0067	a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0067g0093 a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0067g0093	3	254	0.0118	1074	c.305 others(1091): Show c.3058-572_3058-571insCCCGAAGGGTGTGAGGTGTGGCTTTGTC TTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTG TGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGG TGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCT TCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGT GGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGT GTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTT CCTGAGTGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATGTG GCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTG TGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTTC CTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGG CTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTG TGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCC TGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGC TTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATGT GAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCC TGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGC TTTGTCTTCTGGAGAGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGT GAGGTGTGGCTTGGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTTCC TGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGC TTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGTG AGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112872979	C C	CAGTGTGA others(1067): Show CAGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGT GTGGCTTTGTCTCCCGAAGGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCG GTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTC TTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTG TGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGCGG TGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCT TCCTGAGTGATGTGAGGTATGGCTTTGTCTTCCTGAGTGGTGTGAGATGT GGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGT GTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTG GCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGT GTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTC CTGAATGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGG CTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATG TGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTC CTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGG CTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTG TGAGGTGTGGCTTTGTCTTCCTGAGCAGTGTGAGGTGTGGCTTTGTCTTC CTGAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGG CTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTTAATGGTGT GAGGTGTGGCTTTGTCTTCCTGAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0069 a0009c0038t0069	a0009c0038t0069g0044 a0009c0038t0069g0044	1	254	0.0039	1074	c.305 others(1091): Show c.3058-594_3058-593insAGTGTGAGGTGTGGCTTTGTCTCCCGAA GGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTG TCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTCCCGAAGGGTGTGAGGT GTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGC GGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGT CTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAATGTTGTGAGGTG TTGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAATG GTGTGAGGTGTGGCTTTGTCTTCCTGAGTGATGTGAGGTATGGCTTTGTC TTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTG TGGCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGG TGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCT TCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGT GGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGG TGTGAGGTGTGGCTTTGTCTCCTGAATGTTGTGAGGTGTTGCTTTGTCTT CCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGATGTGAGGTGTGGCTTTGTCTTCCTGAGTGGT GTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTT CCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTG GCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCAGT GTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCTTTGTCTT CCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTG GCTTTGTCTCCTTAATGGTGTGAGGTGTGGCTTTGTCTTCCTGAAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29						chr13	TogoVar
BOK_chr2_241553745_241579131	241570996	T T	TGGGGGTG others(1067): Show TGGGGGTGGGAGAGCTGGGGTGTGAGGGTGCAGAGGTACGGGAGGGAGTG GTGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGAGCGCCTG TGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGA GTGGTGGATGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGA GCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGA GGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCT GGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCT CTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTAC AGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTG AGTGTCTGAGCGCCTGTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAG ACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGTGCCCATGTGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGAT GGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTGCGAGGGT ACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGTGCCCATG TGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGT GGATGGGTGAGCCTCTGAGCGCCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(30): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02293.hp2 HG02300.hp2 HG03704.hp2 NA18941.hp2 NA18942.hp2 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18984.hp2 NA19000.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19087.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0047 a0003c0004t0005	a0001c0001t0005g0041 a0001c0001t0005g0048 a0001c0001t0005g0068 others(24): Show a0001c0001t0005g0041 a0001c0001t0005g0048 a0001c0001t0005g0068 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0106 a0001c0001t0005g0127 a0001c0001t0005g0204 a0001c0001t0005g0237 a0001c0001t0005g0269 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0008g0017 a0001c0001t0008g0107 a0001c0001t0008g0170 a0001c0001t0008g0171 a0001c0001t0008g0172 a0001c0001t0011g0053 a0001c0001t0011g0283 a0001c0001t0011g0284 a0001c0001t0011g0285 a0001c0001t0011g0286 a0001c0001t0047g0088 a0003c0004t0005g0052	33	434	0.0760	1074	c.513 others(1089): Show c.513+729_513+730insTGAGGGTGCAGAGGTACGGGAGGGAGTGGT GGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGAGCGCCTGTG GGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGT GGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCC TGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGT GGTGGATGGGTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAG GAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGGTGGGAGA GCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAG TGTCTGAGCGCCTGTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAC GTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGTGCCCATGTGGGTG GGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGGATGG GTGAGTGTCTGAGTGCCCATGTGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGTGCCCATGTG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTG		BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
C4orf17_chr4_99506021_99547303	99506778	A A	ACATAATC others(1067): Show ACATAATCATAGCACACTACAGCCCTGGGCTCCAGCCATTCTCCTGTCTC AGCCTCCTGTGTAGCTGGGACTAGAGGCATCCACCACCACACCTGGCTCA ATCATTATTCTTTAAATAAGCTTTCTGCCTCTTTTTCACTTCTCCTTCTG GGACATTCATAATTCATATATTAATTTGCTTGATGGTGTTCCATAAGTCC CTTTGTCTTTCTTCACTCTTTTTCATTCTTTTTACCTTTCTTCCTATGAC CGGATACTTTTAAAATTTTTTTTATTTTTTTGAGATGGAGTCTTACTCTG TTACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTCCA CCTCTCAGGCTCAAGCAATTCTCCCACCTCCTTCCCACCCAAGAGCTGGG ATCACAGGGGCACCACCATGCCTGGCTAATTTCTTGTATTTTTGGTAGAG ACAGGATTTCACCATGTTGCCGAGGATGATCTCAAACTCCTGAACTCAGG AGATCCACCTGCCTCAACCTTCCAAAGTGCTGGGGTTACAGATATGAGCC ACCATGCCTAGCCTGACTGGATAATCTTAAATGACATGTATTCAAAAATT ACTGAGCCTTTCTTCTGCTTGATCAAGTCTGCCATTGAGTCCCTCTAGTA AAATTTTCAGTTCAATTATTATATTCTTTATCTTTAGAATTTCTGTTTGG TTCTTTTTTATAGTTTTTAAGTTGATATTCTCATTTTGTTTATGTTTTAT TTTTCTGATTTCATTTACTTGTTTTTTATGCATTGCCATATATAACTAAC AGTTTCTATGAAATGATTATTTTGAATTGTCAGGCAATTCACAGATCTCT CTTTTCTTAAGACCAGTTGCTAGTGCTTTTCTTTCTTCTTTGTTTGTGTC ACAGTTCTGCAACTCATTATATTTCTTGTAGCTTTGTGTTGGTGTCTGTA TATTTGAAGAAATAGTCACCTCTCCCATTCATTAGGCCTGGGTTCAACAT GGAAAGCCCTTCACCAATCAGCCTAGCTAGAGATTTTGAGAGCCTCTCAT TTTTTTTCTAGGGATATATATACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01975.hp2 HG02258.hp1 others(22): Show HG01884.hp2 HG01975.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0003 a0002c0004 a0002c0009 others(3): Show a0002c0003 a0002c0004 a0002c0009 a0003c0002 a0004c0005 a0005c0006	a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 others(3): Show a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0003c0002t0001 a0004c0005t0001 a0005c0006t0001	a0002c0003t0001g0103 a0002c0004t0001g0062 a0002c0004t0001g0063 others(20): Show a0002c0003t0001g0103 a0002c0004t0001g0062 a0002c0004t0001g0063 a0002c0009t0001g0101 a0002c0009t0001g0102 a0003c0002t0001g0282 a0004c0005t0001g0244 a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0061 a0005c0006t0001g0269 a0005c0006t0001g0270 a0005c0006t0001g0271 a0005c0006t0001g0272 a0005c0006t0001g0273 a0005c0006t0001g0274 a0005c0006t0001g0275 a0005c0006t0001g0276 a0005c0006t0001g0277 a0005c0006t0001g0278 a0005c0006t0001g0279 a0005c0006t0001g0280 a0005c0006t0001g0281	25	386	0.0648	1074	c.-45 others(1085): Show c.-4588_-4587insCATAATCATAGCACACTACAGCCCTGGGCTCCAG CCATTCTCCTGTCTCAGCCTCCTGTGTAGCTGGGACTAGAGGCATCCACC ACCACACCTGGCTCAATCATTATTCTTTAAATAAGCTTTCTGCCTCTTTT TCACTTCTCCTTCTGGGACATTCATAATTCATATATTAATTTGCTTGATG GTGTTCCATAAGTCCCTTTGTCTTTCTTCACTCTTTTTCATTCTTTTTAC CTTTCTTCCTATGACCGGATACTTTTAAAATTTTTTTTATTTTTTTGAGA TGGAGTCTTACTCTGTTACCCAGGCTGGAGTACAGTGGCACAATCTTGGC TCACTGCAGCCTCCACCTCTCAGGCTCAAGCAATTCTCCCACCTCCTTCC CACCCAAGAGCTGGGATCACAGGGGCACCACCATGCCTGGCTAATTTCTT GTATTTTTGGTAGAGACAGGATTTCACCATGTTGCCGAGGATGATCTCAA ACTCCTGAACTCAGGAGATCCACCTGCCTCAACCTTCCAAAGTGCTGGGG TTACAGATATGAGCCACCATGCCTAGCCTGACTGGATAATCTTAAATGAC ATGTATTCAAAAATTACTGAGCCTTTCTTCTGCTTGATCAAGTCTGCCAT TGAGTCCCTCTAGTAAAATTTTCAGTTCAATTATTATATTCTTTATCTTT AGAATTTCTGTTTGGTTCTTTTTTATAGTTTTTAAGTTGATATTCTCATT TTGTTTATGTTTTATTTTTCTGATTTCATTTACTTGTTTTTTATGCATTG CCATATATAACTAACAGTTTCTATGAAATGATTATTTTGAATTGTCAGGC AATTCACAGATCTCTCTTTTCTTAAGACCAGTTGCTAGTGCTTTTCTTTC TTCTTTGTTTGTGTCACAGTTCTGCAACTCATTATATTTCTTGTAGCTTT GTGTTGGTGTCTGTATATTTGAAGAAATAGTCACCTCTCCCATTCATTAG GCCTGGGTTCAACATGGAAAGCCCTTCACCAATCAGCCTAGCTAGAGATT TTGAGAGCCTCTCATTTTTTTTCTAGGGATATATATACTT		C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding					4242		chr4	TogoVar
C4orf17_chr4_99506021_99547303	99506778	A A	ACATAATC others(1067): Show ACATAATCATAGCACACTACAGCCCTGGGCTCCAGCCATTCTCCTGTCTC AGCCTCCTGTGTAGCTGGGACTAGAGGCATCCACCACCACACCTGGCTCA ATCATTATTCTTTAAATAAGCTTTCTGCCTCTTTTTCACTTCTCCTTCTG GGACATTCATAATTCATATATTAATTTGCTTGATGGTGTTCCATAAGTCC CTTTGTCTTTCTTCACTCTTTTTCATTCTTTTTACCTTTCTTCCTATGAC CGGATACTTTTAAAATTTTTTTTATTTTTTTGAGATGGAGTCTTACTCTG TTACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTCCA CCTCTCAGGCTCAAGCAATTCTCCCACCTCCTTCCCACCCAAGAGCTGGG ATCACAGGGGCACCACCATGCCTGGCTAATTTCTTGTATTTTTGGTAGAG ACAGGATTTCACCGTGTTGCCGAGGATGATCTCAAACTCCTGAACTCAGG AGATCCACCTGCCTCAACCTTCCAAAGTGCTGGGGTTACAGATATGAGCC ACCATGCCTAGCCTGACTGGATAATCTTAAATGACATGTATTCAAAAATT ACTGAGCCTTTCTTCTGCTTGATCAAGTCTGCCATTGAGTCCCTCTAGTA AAATTTTCAGTTCAATTATTATATTCTTTATCTTTAGAATTTCTGTTTGG TTCTTTTTTATAGTTTTTAAGTTGATATTCTCATTTTGTTTATGTTTTAT TTTTCTGATTTCATTTACTTGTTTTTTCTGCATTGCCATATATAACTAAC AGTTTCTATGAAATGATTATTTTGAATTGTCAGGCAATTCACAGATCTCT CTTTTCTTAAGACCAGTTGCTAGTGCTTTTCTTTCTTCTTTGTTTGTGTC ACAGTTCTGCAACTCATTATATTTCTTGTAGCTTTGTGTTGGTGTCTGTA TATTTGAAGAAATAGTCACCTCTCCCATTCATTAGGCCTGGGTTCAACAT GGAAAGCCCTTCACCAATCAGCCTAGCTAGAGATTTTGAGAGCCTCTCAT TTTTTTTCTAGGGATATGTATACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01257.hp1 others(1): Show HG00639.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0034 others(1): Show a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0035	4	386	0.0104	1074	c.-45 others(1085): Show c.-4588_-4587insCATAATCATAGCACACTACAGCCCTGGGCTCCAG CCATTCTCCTGTCTCAGCCTCCTGTGTAGCTGGGACTAGAGGCATCCACC ACCACACCTGGCTCAATCATTATTCTTTAAATAAGCTTTCTGCCTCTTTT TCACTTCTCCTTCTGGGACATTCATAATTCATATATTAATTTGCTTGATG GTGTTCCATAAGTCCCTTTGTCTTTCTTCACTCTTTTTCATTCTTTTTAC CTTTCTTCCTATGACCGGATACTTTTAAAATTTTTTTTATTTTTTTGAGA TGGAGTCTTACTCTGTTACCCAGGCTGGAGTACAGTGGCACAATCTTGGC TCACTGCAGCCTCCACCTCTCAGGCTCAAGCAATTCTCCCACCTCCTTCC CACCCAAGAGCTGGGATCACAGGGGCACCACCATGCCTGGCTAATTTCTT GTATTTTTGGTAGAGACAGGATTTCACCGTGTTGCCGAGGATGATCTCAA ACTCCTGAACTCAGGAGATCCACCTGCCTCAACCTTCCAAAGTGCTGGGG TTACAGATATGAGCCACCATGCCTAGCCTGACTGGATAATCTTAAATGAC ATGTATTCAAAAATTACTGAGCCTTTCTTCTGCTTGATCAAGTCTGCCAT TGAGTCCCTCTAGTAAAATTTTCAGTTCAATTATTATATTCTTTATCTTT AGAATTTCTGTTTGGTTCTTTTTTATAGTTTTTAAGTTGATATTCTCATT TTGTTTATGTTTTATTTTTCTGATTTCATTTACTTGTTTTTTCTGCATTG CCATATATAACTAACAGTTTCTATGAAATGATTATTTTGAATTGTCAGGC AATTCACAGATCTCTCTTTTCTTAAGACCAGTTGCTAGTGCTTTTCTTTC TTCTTTGTTTGTGTCACAGTTCTGCAACTCATTATATTTCTTGTAGCTTT GTGTTGGTGTCTGTATATTTGAAGAAATAGTCACCTCTCCCATTCATTAG GCCTGGGTTCAACATGGAAAGCCCTTCACCAATCAGCCTAGCTAGAGATT TTGAGAGCCTCTCATTTTTTTTCTAGGGATATGTATACTT		C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding					4242		chr4	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(1067): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGTAATATATATTATA TATTACATATGTAATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATATTATATATTACATATGTAATAT ATATTACATATGTAATATATATTATATATGTAATATATATTACATATATT ACATATGTAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATATTACATATGTAATATA TATTATATATGTAATATATAATATATATTATATATGTAATATATATTATA TATGTAATATATATTATATATGTAATATATATTATATATGTAATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATATTATATAT GTAATATATTACATATATAATATATATTACATATATAATATATATTATAT ATGTAATATATATTATATATGTAATATATTACATATATAATATATATTAC ATATATAATATATATTATATATGTAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATGTAATATATATTATATATATTATATATGTAA TATATATTATATATTATATATGTAATATATATTATATATGTAATATATGT AATATATATTATATATGTAATATATGTAATATATATTATATATGTAATAT ATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA ATATATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0165 a0010c0016t0002g0165	1	236	0.0042	1074	c.342 others(1095): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATATTATATATTACATATGTAATATATATATTA TATATTACATATGTAATATATATATTATATATTACATATGTAATATATAT ATTATATATTACATATGTAATATATATTACATATGTAATATATATTATAT ATGTAATATATATTACATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATATTACATATGTAATATATATTATATATGTAATATATAATATATA TTATATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATATTATATATGTAATATATAATATATATTATATATGTAATATATATTA TATATGTAATATATATTATATATGTAATATATTACATATATAATATATAT TACATATATAATATATATTATATATGTAATATATATTATATATGTAATAT ATTACATATATAATATATATTACATATATAATATATATTATATATGTAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATAAT ATATATTATATATGTAATATATAATATATATTATATATGTAATATATATT ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATGTAATATATATTATATATTATATATGTAATA TATATTATATATGTAATATATGTAATATATATTATATATGTAATATATGT AATATATATTATATATGTAATATATGTAATATATATTATATATGTAATAT ATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGTA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGGAA others(1067): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGC AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGAGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0010 a0002c0024t0010	a0002c0024t0010g0336 a0002c0024t0010g0336	1	344	0.0029	1074	c.85- others(1091): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTG CCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC TGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647275	A A	ACAATCCT others(1067): Show ACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTC ACCCATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTC CACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTT CCACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTT CACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCC TCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCT CCTCCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCC TGCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTC TGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCT CAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTT CCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTCCTCCACCCCCTCCA CACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTCCACACCC CTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCGCCTCACC CCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCT CCTGCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACAC TCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACAC CCCTCCCCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCT CCTCACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCT CACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCC ACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACAC ACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTC ACCCCTCTCCCCTCATCACCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	276	0.0036	1074	c.51 others(1085): Show c.5135_*5136insCAATCCTCCTCCTCACCCCTCCTCCTCTGCCACA CCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCAC TCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCTC CACACCCCTCCTCTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCACC TCACTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTC CACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTC CTCCACACCCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCCT CACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTAC TCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTC CATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTC CTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCT CCTCCACCCCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCC TCCTCCTCCACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCC CTCCTCCGCCTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTC CTGCTCCACATCCCTCCTGCTTCACACCCCTCCCCCTCCTCCTTCACACC CCTCATCCTCCACACTCCTCCCCTCCACACCCCTCCTCCTCTACACCCCG CCTCCTCCTCCACACCCCTCCCCCTCACCTCTCCTCCTCCACACTCACTC CTCCACACCCCTCCTCCTCACCCCTCCTCAACCTCCACACCACACCCCCT CCACTACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACT TTTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACAT TCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCC		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					1931		chr15	TogoVar
DIP2C_chr10_269201_694668	478181	G G	GGGGAGGG others(1067): Show GGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGAGA AGGGAGGGGGAGGGGGGAGAGGGGAGAGAGGGGAGGGGAGGGGAGGGGAG AAGGGAGGAGGAGGGGAGGGGAGAGAAAGGGAGGGGAGGGGAGAAGAGGG GAGGGGAGGGGAGAAGGGAGGGAGGAGGGGAGAAGGGAGGGGAGGGAGGG GAGAAAGAAGGGAGGGGAGGAGGGGAGAAGGGAGGGGGAGGAGGGGAGAA GGGAGGGGAGGAGGGGAGAAGGGAGGGGAGGAGGGTTGAGAAGGGAGGGA GGAGGGGGAGAAGGTGGGGAGGGGGGAGAGGGAGGGGAGGGTTGGAGGAG GGAGAGAAGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGGAGAAGAAG GAGGGGAGGGGAGGGGGAGAGAAGAGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGTGAGAAGAAGGAGGGGAGGGAGAGAAGAAGGGGAGGGAG ATGGGGAGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGGAGAAGAAGGGA GGGAGAAGAAGGTGAGGAGGAGAAGAAAGGGAGGGGTTGAGAAGGGAGGG GAGAAGAAGGGAGGGGAGAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAG AAGGGAGGGGAGAAGAAGGGAGGGGGAGGGGAGGGGAGAAGAAGGGAGGG GAGAGGAGGGGAGGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGAGGGGAGAAGGGAG GGGAGGGGAGGGGAGGGGAGAAGGGGAGGGGGGGAGGGGGAGGGGAGAAG AAGGGAGGGGAGGGGAGGGGAGGGGAGAGAAGAGAGGGGAGGGGAGGGGA GGGGGAGAAGAAGGGAGGGGGAGAAGAAGGGAGGGGAGAAGAAGGTGAGG AGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAG AAGAAGGGAGGGGAGAAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	1074	c.158 others(1091): Show c.158-5633_158-5632insTCTCCTTCTTCTCCCCTCCCTTCTTCTC CCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCTCCT CACCTTCTTCTCCCCTCCCTTCTTCTCCCCCTCCCTTCTTCTCCCCCTCC CCTCCCCTCCCCTCTCTTCTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCCTCCCCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCCCTC CCTTCTCCCCTCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT TCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCCTCCCCTCCTCTCCCC TCCCTTCTTCTCCCCTCCCCTCCCCCTCCCTTCTTCTCCCCTCCCTTCTT CTCCCCTCCCTTCTTCTCCCCTCCCTTCTCTCCCCTCCCTTCTTCTCCCC TCCCTTCTCAACCCCTCCCTTTCTTCTCCTCCTCACCTTCTTCTCCCTCC CTTCTTCTCCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCTCCCCATCTC CCTCCCCTTCTTCTCTCCCTCCCCTCCTTCTTCTCACCCTCCCCTCCCTT CTTCTCCCCTCCCCTCCCCTCCTCTTCTCTCCCCCTCCCCTCCCCTCCTT CTTCTCCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCTTCTCTCCCTC CTCCAACCCTCCCCTCCCTCTCCCCCCTCCCCACCTTCTCCCCCTCCTCC CTCCCTTCTCAACCCTCCTCCCCTCCCTTCTCCCCTCCTCCCCTCCCTTC TCCCCTCCTCCCCCTCCCTTCTCCCCTCCTCCCCTCCCTTCTTTCTCCCC TCCCTCCCCTCCCTTCTCCCCTCCTCCCTCCCTTCTCCCCTCCCCTCCCC TCTTCTCCCCTCCCCTCCCTTTCTCTCCCCTCCCCTCCTCCTCCCTTCTC CCCTCCCCTCCCCTCCCCTCTCTCCCCTCTCCCCCCTCCCCCTCCCTTCT CCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1067): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGG GAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGA GGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAG GAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGA GGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0169 a0001c0169	a0001c0169t0001 a0001c0169t0001	a0001c0169t0001g0179 a0001c0169t0001g0179	1	252	0.0040	1074	c.118 others(1093): Show c.11806-562_11806-561insCTCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCC TCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCT CCTCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTC CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1067): Show AGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGGG AGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGGGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0109 a0109	a0109c0047 a0109c0047	a0109c0047t0001 a0109c0047t0001	a0109c0047t0001g0091 a0109c0047t0001g0091	1	252	0.0040	1074	c.118 others(1093): Show c.11806-562_11806-561insCTCCTCCTCCTCCCCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCT TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTC CCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCT CCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
GALNT9_chr12_132191372_132334589	132241343	C C	CCACACAC others(1067): Show CCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACA CCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCT GGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCC CTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATC CCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCAT TACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACAC ACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTT CCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCAG GGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACACAC AACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACAC ACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACACACACT TCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCG GGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCC CTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0021 a0001c0002t0013g0021	1	183	0.0055	1074	c.107 others(1093): Show c.1077+6566_1077+6567insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTG TGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTG TGTGTTTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTA TAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGG AGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCC TGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGA AGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGG ATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGG GAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCA GGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAG GGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGT GTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTCCAG others(1067): Show CCTTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTC CCAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCC ATTACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCA CACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGG GCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTA TCCCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACCC ATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACAACACACACTTCCCGGGGCCCTCCCTATCCCCATTAAACACACA ACACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCGTCCCTATACCCATTAAACACACAACACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGG GGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCGGGGCCC TCCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCT ATACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18980.hp2 NA18945.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0044 a0001c0001t0001g0045	2	183	0.0109	1074	c.107 others(1093): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCC CGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTTTAATGGGTATAGGGACGGCCCCGGGAAGGGTGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTT GTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGAT AGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCC CCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGAAGGG GGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATG GGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCC CCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGG AAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241523	C C	CCACACAC others(1067): Show CCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACACCACC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTACA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGA CCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATC CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAAC ACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACA ACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGG GGCCCTCCCTATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCC TCCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCT ATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCA TTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC ACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCAC ACCCCCTTCCCGGGGCCCTCCCTATACCCATTAAACACACAACACACCCC CTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCC CAGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCC CTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0104 a0001c0007t0001g0104	1	183	0.0055	1074	c.107 others(1093): Show c.1077+6386_1077+6387insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCTGG GAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGG GGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTG TGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTG TGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGA AGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGG GTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTT GTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTG TTTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGG ATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGT CCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241672	C C	CGGGGCCC others(1067): Show CGGGGCCCTCCCTATCCCCATTAAACACACAACACACACCCTTCCCGGGG CCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATAC CCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACA CGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCA CACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCC CCTTCCCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTC CCGGGGCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGG GCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGC CTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCAT TACACACACACCACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	183	0.0055	1074	c.107 others(1093): Show c.1077+6237_1077+6238insTGGAAGGGGGTGTGGTGTGTGTGTAA TGGGTATAGGGAGGGCTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGG CCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGG AAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGGAAGGG GGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGG AGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGC CCCGGGAAGGGTGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399234	A A	ACCACCAC others(1067): Show ACCACCACCATCACCACCACCATCACCACCATCACCATCATCACCGCCAC CACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGCCACCACCACCA CCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCACCACC ACCACCACCACCACCATCACCATCATCACCACCACCATCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCGCC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCATCAC CATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCGCCACCA CCACCACCACCATCACCACCACAACCACCACCACCACCACCATCACCACC ACTACCACCACCACCACCACCATCACCACCACCACTACCATCATCACCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACCA TCACCACCACCACCACCATCACCATCATCACCACCATCACCGCCACCATC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACTACCAT CATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCA TCACCATCACCACCACCATCACCGCCACCATCACCATCACCATCACCACC ACCACCACCATCACCATCATCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCATCACCATCACCACCACCATCACCGCCACCATCA CCATCACCATCACCACCACCATCACCATCACCATCACCACCACCACCACC ATCACCATCATCACCACCATCACCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	314	0.0032	1074	c.-25 others(1091): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACC ACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCAC TACCATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCACC ATCACCGCCACCATCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACTACCATCATCACCACCACCACCACCACCACCATCACCATCA CCACCACCACCACCATCACCATCACCACCACCATCACCGCCACCATCACC ATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCACCGC CACCACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCA TCACCGCCACCATCACCATCACCATCACCACCACCATCACCATCACCATC ACCACCACCACCACCATCACCATCATCACCACCATCACCGCCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(1067): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCA CCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTAC CACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCA CCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACC ATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCA CCATCTCCTTCAACACCACTACCCCCACCACTATCACCATCACCATCACC TCCACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCAC CATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCC CCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACC ACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCAC CACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTATCACCAT CACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCA CCACTATCACCATCACCATCACCTCCACCACCACCACCACCACCATCTCC TTCAACACCACTACCCCCACCACTACCACCATCACCTCCTCCGCCACCAT CACCATCACCTCCACCACCACCACA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	274	0.0037	1074	c.804 others(1091): Show c.804+4446_804+4447insTGTGGTGGTGGTGGAGGTGATGGTGATG GTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGA GATGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATG GTGATAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGA GGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGG TGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTG GGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGG TGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGG TAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTA GTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGAT GGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGG TGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAG GAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGT AGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGG AGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13						chr7	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1067): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATATAATATAATATATAATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATATATAATATATAATATAATATAT AATGTAATATATAATATATAATATAATATATAATATATAATATATAATAT AATATATAATATATAATATATAATATAATATATAATATACAATACATAAT ATATAATGTATAATATAATATATAATATAATATAAAATATATAATATATA ATATATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTC TTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGT AATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCA GGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAG CTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTT CTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTG CCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCTTC TGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCA ACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGG TACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATC CTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATG GAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGG AGGCATATATATTATATATGATATATATTTTATATATTATTTTATATGTG ATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0180 a0001c0001t0010g0180	1	366	0.0027	1074	c.-36 others(1085): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATATAATATAATATATAATATAATATA TAATATAATATATAATATATAATATATAATATAATATATAATATATAATA TATAATATAATATATAATGTAATATATAATATATAATATAATATATAATA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATACAATACATAATATATAATGTATAATATAATATATAATATAATATAA AATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCT TCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAG GTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGT ACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCC ACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAA GTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACA CTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGG TTTTCTACTTCCTTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAA AATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTT CATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATT TGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGG TGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTG GGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATAT ATTATTTTATATGTGATATATATTTTATATATCTATACAA		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1067): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATATAATATAATATATAATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATATATAATATATAATATAATATAT AATGTAATATATAATATATAATATAATATATAATATATAATATATAATAT AATATATAATATATAATATATAATATAATATATAATATACAATACATAAT ATATAATGTATAATATAATATATAATATAATATAAAATATATAATATATA ATATATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTC TTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGT AATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCA GGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAG CTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTT CTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTG CCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCTTC TGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCA ACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGG TACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATC CTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATG GAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGG AGGCATATATATTATATATGATATATATTTTATATATTATTTTATATGTG ATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0172	1	348	0.0029	1074	c.87 others(1083): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATATAATATAATATATAATATAATATATA ATATAATATATAATATATAATATATAATATAATATATAATATATAATATA TAATATAATATATAATGTAATATATAATATATAATATAATATATAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATA TACAATACATAATATATAATGTATAATATAATATATAATATAATATAAAA TATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTTC TCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGT AGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTAC TCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCAC ATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGT TCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACT CAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTT TTCTACTTCCTTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAA TAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCA TGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTG CCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTG GCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGG TTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATAT TATTTTATATGTGATATATATTTTATATATCTATACAA		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					764		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400231	C C	CCCCTCCC others(1067): Show CCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTC CTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCT CCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCC CCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCC CCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCT ACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCC CCTCCCCTCCTGCCCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	276	0.0036	1074	c.66 others(1085): Show c.6602_*6603insAGGGGAGGGGGGGCAGGAGGGGAGGGGGCAGGAG GGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGTAGGAAGGGA GGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGGGGCAGGAGG GGGGAGGGGTACAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGG CAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAG GAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGG GGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGG GAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGGCA GGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGGAGGG GGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGG AGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAG GAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAG GGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGG GGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGG AAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAA GGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGG GGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAG GAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGG		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding					3243		chr2	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCATCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA20905.hp2 NA20905.hp2	a0052 a0052	a0052c0269 a0052c0269	a0052c0269t0001 a0052c0269t0001	a0052c0269t0001g0105 a0052c0269t0001g0105	1	342	0.0029	1074	c.253 others(1083): Show c.2538_2539insATCAGTGAAGAATCCACCACCTCCCACAGCCGACCA GGCTCAACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGT CAGTCAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAA CACTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACT ACCTTCCACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAA CACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCA CTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAG GGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCC TGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCC ACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACA ACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGC AACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTG AAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCAC TTCCCTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTC CCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTG CCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCA ACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATC AACAGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTG CCCGCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATC AGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCC AGGCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACCAG CCACAACACTCTCACCTGCCAGCACGACAAGCTCAGGC	p.Gly others(1087): Show p.Gly846_Val847insIleSerGluGluSerThrThrSerHisSerAr gProGlySerThrHisThrThrAlaPheProSerSerThrThrMetProG lyValSerGlnGluSerThrAlaSerHisSerSerProGlySerThrAsp ThrThrLeuSerProGlySerThrThrAlaSerSerLeuGlyProGluSe rThrThrPheHisSerSerProGlySerThrGluThrThrLeuLeuProA spAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrProValHisSer SerThrGlySerProHisThrThrLeuSerProAlaGlySerThrThrAr gGlnGlyGluSerThrThrPheGlnSerTrpProAsnSerLysAspThrT hrProAlaProProThrThrThrSerAlaPheValGluLeuSerThrThr SerHisGlySerProSerSerThrProThrThrHisPheSerAlaSerSe rThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSerProV alAlaThrAlaThrThrProSerProAlaArgSerThrThrSerGlyLeu ValGluGluSerThrThrTyrHisSerSerProGlySerThrGlnThrMe tHisPheProGluSerAsnThrThrSerGlyArgGlyGluGluSerThrT hrSerHisSerSerThrThrHisThrIleSerSerAlaProSerThrThr SerAlaLeuValGluGluProThrSerTyrHisSerSerProGlySerTh rAlaThrThrHisPheProAspSerSerThrThrSerGlyArgSerGluG luSerThrAlaSerHisSerSerGlnGluThrThrGlyThrIleValLeu ProAlaArgSerThrIleSerValLeuLeuGlyGluSerThrThrSerPr oIleSerSerGlySerMetGluThrThrAlaLeuProGlySerThrThrT hrProGlyLeuSerGluLysSerThrThrPheHisSerSerProArgSer ProAlaThrThrLeuSerProAlaSerThrThrSerSerGly	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2597/16366	2539/16008	847/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCATCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19081.hp1 NA19081.hp1	a0174 a0174	a0174c0268 a0174c0268	a0174c0268t0001 a0174c0268t0001	a0174c0268t0001g0207 a0174c0268t0001g0207	1	342	0.0029	1074	c.253 others(1083): Show c.2538_2539insATCAGTGAAGAATCCACCACCTCCCACAGCCGACCA GGCTCAACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGT CAGTCAGGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAA CACTGTCCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACT ACCTTCCACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAA CACCACAGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCA CTGGATCGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAG GGAGAATCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCC TGCACCTCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCC ACGGCAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACA ACCTTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGC AACTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTG AAGAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCAC TTCCCTGAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTC CCACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTG CCCTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCA ACAACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATC AACAGCATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTG CCCGCTCCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATC AGTTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCC AGGCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCCAGATCACCAG CCACAACACTCTCACCTGCCAGCACGACAAGCTCAGGC	p.Gly others(1087): Show p.Gly846_Val847insIleSerGluGluSerThrThrSerHisSerAr gProGlySerThrHisThrThrAlaPheProSerSerThrThrMetProG lyValSerGlnGluSerThrAlaSerHisSerSerProGlySerThrAsp ThrThrLeuSerProGlySerThrThrAlaSerSerLeuGlyProGluSe rThrThrPheHisSerSerProGlySerThrGluThrThrLeuLeuProA spAsnThrThrAlaSerGlyLeuLeuGluAlaSerThrProValHisSer SerThrGlySerProHisThrThrLeuSerProAlaGlySerThrThrAr gGlnGlyGluSerThrThrPheGlnSerTrpProAsnSerLysAspThrT hrProAlaProProThrThrThrSerAlaPheValGluLeuSerThrThr SerHisGlySerProSerSerThrProThrThrHisPheSerAlaSerSe rThrThrLeuGlyArgSerGluGluSerThrThrValHisSerSerProV alAlaThrAlaThrThrProSerProAlaArgSerThrThrSerGlyLeu ValGluGluSerThrThrTyrHisSerSerProGlySerThrGlnThrMe tHisPheProGluSerAspThrThrSerGlyArgGlyGluGluSerThrT hrSerHisSerSerThrThrHisThrIleSerSerAlaProSerThrThr SerAlaLeuValGluGluProThrSerTyrHisSerSerProGlySerTh rAlaThrThrHisPheProAspSerSerThrThrSerGlyArgSerGluG luSerThrAlaSerHisSerSerGlnGluThrThrGlyThrIleValLeu ProAlaArgSerThrIleSerValLeuLeuGlyGluSerThrThrSerPr oIleSerSerGlySerMetGluThrThrAlaLeuProGlySerThrThrT hrProGlyLeuSerGluLysSerThrThrPheHisSerSerProArgSer ProAlaThrThrLeuSerProAlaSerThrThrSerSerGly	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2597/16366	2539/16008	847/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCAGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18989.hp1 NA18989.hp1	a0171 a0171	a0171c0136 a0171c0136	a0171c0136t0001 a0171c0136t0001	a0171c0136t0001g0183 a0171c0136t0001g0183	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCAGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaSerSerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACGTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03225.hp2 HG03225.hp2	a0170 a0170	a0170c0137 a0170c0137	a0170c0137t0001 a0170c0137t0001	a0170c0137t0001g0035 a0170c0137t0001g0035	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACGTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisValSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCATAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18971.hp1 NA18971.hp1	a0087 a0087	a0087c0138 a0087c0138	a0087c0138t0001 a0087c0138t0001	a0087c0138t0001g0282 a0087c0138t0001g0282	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCATAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyHisSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCAACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03516.hp2 HG03516.hp2	a0168 a0168	a0168c0139 a0168c0139	a0168c0139t0001 a0168c0139t0001	a0168c0139t0001g0131 a0168c0139t0001g0131	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCAA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCAGGCTCAACTCAAACAATGCACTTCCCT GAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAACCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04228.hp2 HG04228.hp2	a0091 a0091	a0091c0140 a0091c0140	a0091c0140t0001 a0091c0140t0001	a0091c0140t0001g0275 a0091c0140t0001g0275	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCAGGCTCAACTCAAACAATGCACTTCCCTGAAAGCGACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAACCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAspThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrThrSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCATAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18978.hp2 NA18978.hp2	a0092 a0092	a0092c0141 a0092c0141	a0092c0141t0001 a0092c0141t0001	a0092c0141t0001g0249 a0092c0141t0001g0249	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCATAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyHisSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGAAAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp1 HG01257.hp1	a0093 a0093	a0093c0142 a0093c0142	a0093c0142t0001 a0093c0142t0001	a0093c0142t0001g0094 a0093c0142t0001g0094	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGAAAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rLysAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18941.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18967.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0008 a0009 others(99): Show a0001 a0008 a0009 a0012 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0043 a0047 a0050 a0051 a0053 a0083 a0084 a0085 a0086 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0133 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0149 a0150 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0169 a0173	a0001c0001 a0001c0168 a0001c0181 others(104): Show a0001c0001 a0001c0168 a0001c0181 a0008c0028 a0008c0205 a0009c0006 a0012c0040 a0019c0033 a0020c0023 a0021c0022 a0022c0025 a0023c0024 a0024c0021 a0025c0032 a0026c0202 a0026c0231 a0027c0031 a0028c0030 a0029c0029 a0030c0027 a0031c0026 a0032c0170 a0032c0171 a0043c0286 a0047c0043 a0050c0271 a0051c0270 a0053c0267 a0083c0230 a0084c0227 a0085c0229 a0086c0228 a0094c0222 a0095c0221 a0096c0220 a0097c0144 a0098c0147 a0099c0148 a0100c0157 a0101c0156 a0102c0155 a0103c0150 a0104c0154 a0105c0153 a0106c0152 a0107c0151 a0108c0149 a0109c0164 a0110c0163 a0111c0160 a0112c0159 a0113c0158 a0114c0161 a0115c0162 a0116c0145 a0117c0146 a0118c0143 a0119c0218 a0120c0210 a0121c0217 a0122c0216 a0123c0215 a0124c0214 a0125c0213 a0126c0212 a0127c0211 a0128c0208 a0129c0209 a0130c0207 a0131c0206 a0132c0204 a0133c0203 a0134c0201 a0135c0200 a0136c0166 a0137c0199 a0138c0198 a0139c0167 a0140c0169 a0141c0197 a0142c0194 a0143c0195 a0144c0191 a0145c0189 a0146c0188 a0147c0187 a0149c0185 a0150c0196 a0151c0186 a0152c0176 a0153c0183 a0154c0173 a0155c0182 a0156c0184 a0157c0180 a0158c0179 a0159c0178 a0160c0190 a0161c0177 a0162c0174 a0163c0175 a0164c0192 a0165c0193 a0166c0172 a0167c0219 a0169c0165 a0173c0134	a0001c0001t0001 a0001c0168t0001 a0001c0181t0001 others(104): Show a0001c0001t0001 a0001c0168t0001 a0001c0181t0001 a0008c0028t0001 a0008c0205t0001 a0009c0006t0001 a0012c0040t0001 a0019c0033t0001 a0020c0023t0001 a0021c0022t0001 a0022c0025t0001 a0023c0024t0001 a0024c0021t0001 a0025c0032t0001 a0026c0202t0001 a0026c0231t0001 a0027c0031t0001 a0028c0030t0001 a0029c0029t0001 a0030c0027t0001 a0031c0026t0001 a0032c0170t0001 a0032c0171t0001 a0043c0286t0001 a0047c0043t0001 a0050c0271t0001 a0051c0270t0001 a0053c0267t0001 a0083c0230t0001 a0084c0227t0001 a0085c0229t0001 a0086c0228t0001 a0094c0222t0001 a0095c0221t0001 a0096c0220t0001 a0097c0144t0001 a0098c0147t0001 a0099c0148t0001 a0100c0157t0001 a0101c0156t0001 a0102c0155t0001 a0103c0150t0001 a0104c0154t0001 a0105c0153t0001 a0106c0152t0001 a0107c0151t0001 a0108c0149t0001 a0109c0164t0001 a0110c0163t0001 a0111c0160t0001 a0112c0159t0001 a0113c0158t0001 a0114c0161t0001 a0115c0162t0001 a0116c0145t0001 a0117c0146t0001 a0118c0143t0001 a0119c0218t0001 a0120c0210t0001 a0121c0217t0001 a0122c0216t0001 a0123c0215t0001 a0124c0214t0001 a0125c0213t0001 a0126c0212t0001 a0127c0211t0001 a0128c0208t0001 a0129c0209t0001 a0130c0207t0001 a0131c0206t0001 a0132c0204t0001 a0133c0203t0001 a0134c0201t0001 a0135c0200t0001 a0136c0166t0001 a0137c0199t0001 a0138c0198t0001 a0139c0167t0002 a0140c0169t0001 a0141c0197t0001 a0142c0194t0001 a0143c0195t0001 a0144c0191t0001 a0145c0189t0001 a0146c0188t0001 a0147c0187t0001 a0149c0185t0001 a0150c0196t0001 a0151c0186t0001 a0152c0176t0001 a0153c0183t0001 a0154c0173t0001 a0155c0182t0001 a0156c0184t0001 a0157c0180t0001 a0158c0179t0001 a0159c0178t0001 a0160c0190t0001 a0161c0177t0001 a0162c0174t0001 a0163c0175t0001 a0164c0192t0001 a0165c0193t0001 a0166c0172t0001 a0167c0219t0001 a0169c0165t0001 a0173c0134t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0197 others(120): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0252 a0001c0168t0001g0247 a0001c0181t0001g0069 a0008c0028t0001g0169 a0008c0028t0001g0184 a0008c0205t0001g0234 a0009c0006t0001g0020 a0009c0006t0001g0203 a0012c0040t0001g0017 a0019c0033t0001g0237 a0019c0033t0001g0238 a0020c0023t0001g0188 a0020c0023t0001g0200 a0021c0022t0001g0283 a0021c0022t0001g0284 a0022c0025t0001g0223 a0022c0025t0001g0224 a0023c0024t0001g0204 a0023c0024t0001g0205 a0024c0021t0001g0022 a0025c0032t0001g0026 a0025c0032t0001g0295 a0026c0202t0001g0196 a0026c0231t0001g0193 a0027c0031t0001g0190 a0027c0031t0001g0192 a0028c0030t0001g0157 a0028c0030t0001g0257 a0029c0029t0001g0274 a0029c0029t0001g0277 a0030c0027t0001g0141 a0030c0027t0001g0239 a0031c0026t0001g0018 a0032c0170t0001g0272 a0032c0171t0001g0273 a0043c0286t0001g0182 a0047c0043t0001g0285 a0050c0271t0001g0073 a0051c0270t0001g0220 a0053c0267t0001g0143 a0083c0230t0001g0077 a0084c0227t0001g0009 a0085c0229t0001g0076 a0086c0228t0001g0075 a0094c0222t0001g0185 a0095c0221t0001g0236 a0096c0220t0001g0230 a0097c0144t0001g0212 a0098c0147t0001g0087 a0099c0148t0001g0242 a0100c0157t0001g0179 a0101c0156t0001g0250 a0102c0155t0001g0215 a0103c0150t0001g0165 a0104c0154t0001g0208 a0105c0153t0001g0189 a0106c0152t0001g0210 a0107c0151t0001g0221 a0108c0149t0001g0216 a0109c0164t0001g0229 a0110c0163t0001g0225 a0111c0160t0001g0177 a0112c0159t0001g0167 a0113c0158t0001g0241 a0114c0161t0001g0243 a0115c0162t0001g0170 a0116c0145t0001g0072 a0117c0146t0001g0228 a0118c0143t0001g0206 a0119c0218t0001g0025 a0120c0210t0001g0026 a0121c0217t0001g0025 a0122c0216t0001g0296 a0123c0215t0001g0005 a0124c0214t0001g0005 a0125c0213t0001g0005 a0126c0212t0001g0297 a0127c0211t0001g0286 a0128c0208t0001g0174 a0129c0209t0001g0127 a0130c0207t0001g0023 a0131c0206t0001g0023 a0132c0204t0001g0156 a0133c0203t0001g0235 a0134c0201t0001g0191 a0135c0200t0001g0248 a0136c0166t0001g0253 a0137c0199t0001g0085 a0138c0198t0001g0086 a0139c0167t0002g0222 a0140c0169t0001g0202 a0141c0197t0001g0195 a0142c0194t0001g0256 a0143c0195t0001g0255 a0144c0191t0001g0104 a0145c0189t0001g0276 a0146c0188t0001g0245 a0147c0187t0001g0218 a0149c0185t0001g0175 a0150c0196t0001g0171 a0151c0186t0001g0260 a0152c0176t0001g0233 a0153c0183t0001g0246 a0154c0173t0001g0199 a0155c0182t0001g0132 a0156c0184t0001g0021 a0157c0180t0001g0021 a0158c0179t0001g0074 a0159c0178t0001g0004 a0160c0190t0001g0164 a0161c0177t0001g0172 a0162c0174t0001g0181 a0163c0175t0001g0180 a0164c0192t0001g0201 a0165c0193t0001g0194 a0166c0172t0001g0280 a0167c0219t0001g0227 a0169c0165t0001g0136 a0173c0134t0001g0209	129	342	0.3772	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAATAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG02027.hp2 NA18948.hp2 others(1): Show HG00408.hp1 HG02027.hp2 NA18948.hp2 NA19007.hp1	a0088 a0089 a0090 others(1): Show a0088 a0089 a0090 a0257	a0088c0225 a0089c0224 a0090c0223 others(1): Show a0088c0225 a0089c0224 a0090c0223 a0257c0048	a0088c0225t0001 a0089c0224t0001 a0090c0223t0001 others(1): Show a0088c0225t0001 a0089c0224t0001 a0090c0223t0001 a0257c0048t0001	a0088c0225t0001g0008 a0089c0224t0001g0068 a0090c0223t0001g0070 others(1): Show a0088c0225t0001g0008 a0089c0224t0001g0068 a0090c0223t0001g0070 a0257c0048t0001g0008	4	342	0.0117	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAATAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnIleMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACAACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCTAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp1 NA18954.hp1	a0148 a0148	a0148c0226 a0148c0226	a0148c0226t0001 a0148c0226t0001	a0148c0226t0001g0244 a0148c0226t0001g0244	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACAACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCTAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspAsnThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACCACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00639.hp2 HG01074.hp2 others(1): Show HG00323.hp1 HG00639.hp2 HG01074.hp2 HG01256.hp1	a0011 a0045 a0046 a0011 a0045 a0046	a0011c0009 a0045c0044 a0046c0045 a0011c0009 a0045c0044 a0046c0045	a0011c0009t0001 a0045c0044t0001 a0046c0045t0001 a0011c0009t0001 a0045c0044t0001 a0046c0045t0001	a0011c0009t0001g0137 a0011c0009t0001g0139 a0045c0044t0001g0140 others(1): Show a0011c0009t0001g0137 a0011c0009t0001g0139 a0045c0044t0001g0140 a0046c0045t0001g0142	4	342	0.0117	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACCACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCAACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspHisThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAsnThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	100993044	T T	TAGTAGCC others(1067): Show TAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCACGACAA GCTCAGGCGTCAGTGAAGAATCCACCACCTCCCACAGCCGACCAGGCTCA ACGCACACAACAGCATTCCCTAGCAGTACCACCATGCCAGGCGTCAGTCA GGAATCTACAGCTTCCCACAGCAGCCCAGGCTCCACAGACACAACACTGT CCCCTGGCAGTACCACAGCATCATCCCTTGGTCCAGAATCTACTACCTTC CACAGCAGCCCAGGCTCCACTGAAACAACACTCTTACCTGACCACACCAC AGCCTCAGGCCTCCTTGAAGCATCTACGCCCGTCCACAGCAGCACTGGAT CGCCACACACAACACTGTCCCCTGCCGGCTCTACAACCCGTCAGGGAGAA TCTACCACCTTCCAGAGCTGGCCAAACTCGAAGGACACTACCCCTGCACC TCCTACTACCACATCAGCCTTTGTTGAGCTATCTACAACCTCCCACGGCA GCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACCTTG GGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACTGC AACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGAAT CTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCCCT GAAAGCGACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCACAG CAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCTTG TTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAACA CACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACAGC ATCCCACAGCAGCCAAGAAACAACGGGAACAATAGTCCTACCTGCCCGCT CCACAATCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTTCA GGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGCCT CAGTGAGAAATCTACCACTTTCCAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG01168.hp2	a0044 a0044	a0044c0042 a0044c0042	a0044c0042t0001 a0044c0042t0001	a0044c0042t0001g0138 a0044c0042t0001g0138	1	342	0.0029	1074	c.256 others(1083): Show c.2563_2564insACAGCCGACCAGGCTCAACGCACACAACAGCATTCC CTAGCAGTACCACCATGCCAGGCGTCAGTCAGGAATCTACAGCTTCCCAC AGCAGCCCAGGCTCCACAGACACAACACTGTCCCCTGGCAGTACCACAGC ATCATCCCTTGGTCCAGAATCTACTACCTTCCACAGCAGCCCAGGCTCCA CTGAAACAACACTCTTACCTGACCACACCACAGCCTCAGGCCTCCTTGAA GCATCTACGCCCGTCCACAGCAGCACTGGATCGCCACACACAACACTGTC CCCTGCCGGCTCTACAACCCGTCAGGGAGAATCTACCACCTTCCAGAGCT GGCCAAACTCGAAGGACACTACCCCTGCACCTCCTACTACCACATCAGCC TTTGTTGAGCTATCTACAACCTCCCACGGCAGCCCGAGCTCAACTCCAAC AACCCACTTTTCTGCCAGCTCCACAACCTTGGGCCGTAGTGAGGAATCGA CAACAGTCCACAGCAGCCCAGTTGCAACTGCAACAACACCCTCGCCTGCC CGCTCCACAACCTCAGGCCTCGTTGAAGAATCTACGACCTACCACAGCAG CCCGGGCTCAACTCAAACAATGCACTTCCCTGAAAGCGACACAACTTCAG GCCGTGGTGAAGAATCAACAACTTCCCACAGCAGCACAACACACACAATA TCTTCAGCTCCTAGCACCACATCTGCCCTTGTTGAAGAACCTACCAGCTA CCACAGCAGCCCGGGCTCAACTGCAACAACACACTTCCCTGACAGCTCCA CAACCTCAGGCCGTAGTGAGGAATCAACAGCATCCCACAGCAGCCAAGAA ACAACGGGAACAATAGTCCTACCTGCCCGCTCCACAATCTCAGTTCTTCT TGGAGAATCTACGACCTCACCCATCAGTTCAGGCTCAATGGAAACGACAG CGTTACCCGGCAGTACCACAACGCCAGGCCTCAGTGAGAAATCTACCACT TTCCACAGTAGCCCCAGATCACCAGCCACAACACTCTCACCTGCCAGCAC GACAAGCTCAGGCGTCAGTGAAGAATCCACCACCTCCC	p.Ser others(1087): Show p.Ser854_Arg855insHisSerArgProGlySerThrHisThrThrAl aPheProSerSerThrThrMetProGlyValSerGlnGluSerThrAlaS erHisSerSerProGlySerThrAspThrThrLeuSerProGlySerThr ThrAlaSerSerLeuGlyProGluSerThrThrPheHisSerSerProGl ySerThrGluThrThrLeuLeuProAspHisThrThrAlaSerGlyLeuL euGluAlaSerThrProValHisSerSerThrGlySerProHisThrThr LeuSerProAlaGlySerThrThrArgGlnGlyGluSerThrThrPheGl nSerTrpProAsnSerLysAspThrThrProAlaProProThrThrThrS erAlaPheValGluLeuSerThrThrSerHisGlySerProSerSerThr ProThrThrHisPheSerAlaSerSerThrThrLeuGlyArgSerGluGl uSerThrThrValHisSerSerProValAlaThrAlaThrThrProSerP roAlaArgSerThrThrSerGlyLeuValGluGluSerThrThrTyrHis SerSerProGlySerThrGlnThrMetHisPheProGluSerAspThrTh rSerGlyArgGlyGluGluSerThrThrSerHisSerSerThrThrHisT hrIleSerSerAlaProSerThrThrSerAlaLeuValGluGluProThr SerTyrHisSerSerProGlySerThrAlaThrThrHisPheProAspSe rSerThrThrSerGlyArgSerGluGluSerThrAlaSerHisSerSerG lnGluThrThrGlyThrIleValLeuProAlaArgSerThrIleSerVal LeuLeuGlyGluSerThrThrSerProIleSerSerGlySerMetGluTh rThrAlaLeuProGlySerThrThrThrProGlyLeuSerGluLysSerT hrThrPheHisSerSerProArgSerProAlaThrThrLeuSerProAla SerThrThrSerSerGlyValSerGluGluSerThrThrSer	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	2622/16366	2564/16008	855/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1067): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAG GGGGGAGGGGGAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGAGG GGAGGAAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAG GGGAGGAGGTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGAGGG GAGGAGGGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAG GGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGG AGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGA GGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGGAG GGGGGGAGGGGGAGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGA AGGGGGAGGGAGGAGGGGAAGAAGGGGGAGGGGGAGGGAGGGGGAGGGGG AGGGGAGGAGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGG AGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGG GGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAGG GAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGGA GTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGGA GGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGGG GAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGTG GAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	208	0.0048	1074	c.279 others(1089): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCTCCTCCCCTCCCCC TCCCCCTCCCTCCCCCTCCCCCTTCTTCCCCTCCTCCCTCCCCCTTCCTC CCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCC CCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCCTCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCC TCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCCTCCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCC CCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCTTC		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29						chr1	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(1067): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCTCCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT CCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGC ACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTGCATCACCTCCCTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCC CGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC GTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0126 a0001c0012t0001g0126	1	216	0.0046	1074	c.106 others(1091): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTCCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACAC ACCTCCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCCTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(1067): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGACACGGCCGTGGATGGAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG TGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCG AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCCACAGGGAGG GGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGG GCACGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTG GGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCA CAGGGACCGGCGCTGTGGGCACCGCCCTGGGTGCAGCCGCAGGGAGGGGG CACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGC ATGGCCGTGGATGGAGTGACAGGGAGGGGGCACTGTGGGCACAGCCGTGG GTGGAGCCACAGGGACGGGCGCTGTGGGCACAGCCGTGGATGGAGCGACA GGGAGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGGGCG CTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGCATG GCCCTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTG CAGCCACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGACAGG GAGGGGGCGCTGTGGGCACGGCCGT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0002 a0012c0057t0002	a0012c0057t0002g0064 a0012c0057t0002g0064	1	302	0.0033	1074	c.533 others(1091): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTCCATCCACGGCCGTGTCCACAGCGCCCCCT CCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCC		PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36						chr22	TogoVar
POLG_chr15_89311320_89339824	89325239	T T	TGAGTGAG others(1067): Show TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGTGAGTGAGTGAGTG AGTGAAAGAGTGAGTGAGAGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	398	0.0025	1074	c.194 others(1091): Show c.1949+210_1949+211insTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCACTCACTCTCTCACTCACTCTTTCACTCAC TCACTCACTCACACTCACTCACTCACTCACTCTCTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACACTCACTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCACTCACTCACTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTC		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar
RAD54L2_chr3_51533719_51673660	51596086	G G	GCCCAGCT others(1067): Show GCCCAGCTAATTTTTAAAATTTTTTAAAAATTATTATTTTATTTTATTTT ATTTTGAGATGGAGTCTCACTCTGTTGCCTGGGCTGGAGTACAGTGGAGC TATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTA CCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACTATGCCTGG CTAATTTTTGTGTGTATGTGTTTTTTTTTAGTAGAGCCGGGGTTTCACCA TGTTGGCTAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCACCCACCT CAGCCTCCCAAACTGCTGGGATTACAGCCTTTTAAATTTTTTTTAAAAAA TAGACACAGGGTCTCTCTATGTTGCCAGGCTGCTCTTGAACTCCTGGCCT TAAGCAGTCCTCCTACCTTAGCCTCCCAACGTGCTAGGATTACAGGCATG AGCCACTGCGCCCGGTCTAGCAAATTTTTTTTTTTTTTTTTTTTTGTGTA GAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTGGAACTTCTGGGCTC AAGCAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATAACAAGCGTGA GCCACCACACTTGGCCTGGTAATGGTTTTGGGGCTCCATATTTTCTTCTA GCTTAGGTTCAGGTCCAGTCTATTCCCCCACATGAGGTACTTTGGAATAT TTAGATGAAGGGAACTCCTGGAATAATCCAGCCTTTATTTTAAAAAGTTT ATTTCCAGTTGCTGCTTAATGTATGTTCCAGTGGATGTGAAAGTGTGGAA TGGTTGGATACATGTCGCAGGTAGAGTCCTATGTTTTCATGGTTTTGTAA AGGGATTTTCCAGTGTATTGCTGGTTCATTGGCACATTTATTTCCTTGAT GTCACTTCACTGTTTTTGTTTTTTGGGTTTGTTTTTGAGACAGAGTCTCA CTCTGTTGTCCAGGCTGGAGTACAGTGGCAGGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGCACACACCACCACA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18974.hp1 NA18990.hp1 NA18942.hp2 NA18974.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0027 a0001c0001t0035 a0001c0001t0017 a0001c0001t0027 a0001c0001t0035	a0001c0001t0017g0187 a0001c0001t0027g0241 a0001c0001t0035g0016 a0001c0001t0017g0187 a0001c0001t0027g0241 a0001c0001t0035g0016	3	276	0.0109	1074	c.139 others(1091): Show c.139+5541_139+5542insAAAATTTTTTAAAAATTATTATTTTATT TTATTTTATTTTGAGATGGAGTCTCACTCTGTTGCCTGGGCTGGAGTACA GTGGAGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGAT TCTCCTACCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACTA TGCCTGGCTAATTTTTGTGTGTATGTGTTTTTTTTTAGTAGAGCCGGGGT TTCACCATGTTGGCTAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCA CCCACCTCAGCCTCCCAAACTGCTGGGATTACAGCCTTTTAAATTTTTTT TAAAAAATAGACACAGGGTCTCTCTATGTTGCCAGGCTGCTCTTGAACTC CTGGCCTTAAGCAGTCCTCCTACCTTAGCCTCCCAACGTGCTAGGATTAC AGGCATGAGCCACTGCGCCCGGTCTAGCAAATTTTTTTTTTTTTTTTTTT TTGTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTGGAACTTC TGGGCTCAAGCAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATAACA AGCGTGAGCCACCACACTTGGCCTGGTAATGGTTTTGGGGCTCCATATTT TCTTCTAGCTTAGGTTCAGGTCCAGTCTATTCCCCCACATGAGGTACTTT GGAATATTTAGATGAAGGGAACTCCTGGAATAATCCAGCCTTTATTTTAA AAAGTTTATTTCCAGTTGCTGCTTAATGTATGTTCCAGTGGATGTGAAAG TGTGGAATGGTTGGATACATGTCGCAGGTAGAGTCCTATGTTTTCATGGT TTTGTAAAGGGATTTTCCAGTGTATTGCTGGTTCATTGGCACATTTATTT CCTTGATGTCACTTCACTGTTTTTGTTTTTTGGGTTTGTTTTTGAGACAG AGTCTCACTCTGTTGTCCAGGCTGGAGTACAGTGGCAGGATCTCGGCTCA CTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGCACACACCACCACACCCAGCTAATTTTT		RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
RAD54L2_chr3_51533719_51673660	51596086	G G	GCCCAGCT others(1067): Show GCCCAGCTAATTTTTAAAATTTTTTAAAAATTATTATTTTATTTTATTTT ATTTTGAGATGGAGTCTCACTCTGTTGCCTGGGCTGGAGTACAGTGGAGC TATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTA CCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACTATGCCTGG CTAATTTTTGTGTGTATGTGTTTTTTTTTAGTAGAGCCGGGGTTTCACCA TGTTGGCTAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCACCCACCT CAGCCTCCCAAACTGCTGGGATTACAGCCTTTTAAATTTTTTTTTAAAAA ATAGACACAGGGTCTCTCTATGTTGCCAGGCTGCTCTTGAACTCCTGGCC TTAAGCAGTCCTCCTACCTTAGCCTCCCAACGTGCTAGGATTACAGGCAT GAGCCACTGCGCCCGGTCTAGCAAATTTTTTTTTTTTTTTTTTTTGTGTA GAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTGGAACTTCTGGGCTC AAGCAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATAACAAGCGTGA GCCACCACACTTGGCCTGGTAATGGTTTTGGGGCTCCATATTTTCTTCTA GCTTAGGTTCAGGTCCAGTCTATTCCCCCACATGAGGTACTTTGGAATAT TTAGATGAAGGGAACTCCTGGAATAATCCAGCCTTTATTTTAAAAAGTTT ATTTCCAGTTGCTGCTTAATGTATGTTCCAGTGGATGTGAAAGTGTGGAA TGGTTGGATACATGTCGCAGGTAGAGTCCTATGTTTTCATGGTTTTGTAA AGGGATTTTCCAGTGTATTGCTGGTTCATTGGCACATTTATTTCCTTGAT GTCACTTCACTGTTTTTGTTTTTTGGGTTTGTTTTTGAGACAGAGTCTCA CTCTGTTGTCCAGGCTGGAGTACAGTGGCAGGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACAGCACACACCACCACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp2 NA18961.hp1 others(1): Show HG03041.hp2 HG06807.hp2 NA18961.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0063 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0063 a0001c0001t0068	a0001c0001t0005g0003 a0001c0001t0009g0209 a0001c0001t0063g0092 others(1): Show a0001c0001t0005g0003 a0001c0001t0009g0209 a0001c0001t0063g0092 a0001c0001t0068g0231	4	276	0.0145	1074	c.139 others(1091): Show c.139+5541_139+5542insAAAATTTTTTAAAAATTATTATTTTATT TTATTTTATTTTGAGATGGAGTCTCACTCTGTTGCCTGGGCTGGAGTACA GTGGAGCTATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGAT TCTCCTACCTCAGCCTCCTGAGTAGTTGGGATTACAGGCATGTGCCACTA TGCCTGGCTAATTTTTGTGTGTATGTGTTTTTTTTTAGTAGAGCCGGGGT TTCACCATGTTGGCTAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCA CCCACCTCAGCCTCCCAAACTGCTGGGATTACAGCCTTTTAAATTTTTTT TTAAAAAATAGACACAGGGTCTCTCTATGTTGCCAGGCTGCTCTTGAACT CCTGGCCTTAAGCAGTCCTCCTACCTTAGCCTCCCAACGTGCTAGGATTA CAGGCATGAGCCACTGCGCCCGGTCTAGCAAATTTTTTTTTTTTTTTTTT TTGTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTGGAACTTC TGGGCTCAAGCAATCTGCCTGCCTCAGTCTCCCAAAGTGCTGGGATAACA AGCGTGAGCCACCACACTTGGCCTGGTAATGGTTTTGGGGCTCCATATTT TCTTCTAGCTTAGGTTCAGGTCCAGTCTATTCCCCCACATGAGGTACTTT GGAATATTTAGATGAAGGGAACTCCTGGAATAATCCAGCCTTTATTTTAA AAAGTTTATTTCCAGTTGCTGCTTAATGTATGTTCCAGTGGATGTGAAAG TGTGGAATGGTTGGATACATGTCGCAGGTAGAGTCCTATGTTTTCATGGT TTTGTAAAGGGATTTTCCAGTGTATTGCTGGTTCATTGGCACATTTATTT CCTTGATGTCACTTCACTGTTTTTGTTTTTTGGGTTTGTTTTTGAGACAG AGTCTCACTCTGTTGTCCAGGCTGGAGTACAGTGGCAGGATCTCGGCTCA CTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGATTACAGCACACACCACCACACCCAGCTAATTTTT		RAD54L2	ENSG00000164080.14	transcript	ENST00000684192.1	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC1A2_chr11_35246205_35424558	35248649	C C	CTAGCAGT others(1067): Show CTAGCAGTGCATGGATCACCTGGGGATTACTAGTGGTGCATGGATCACCA GGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATG GATAACCTGGGGATTACTAGCAGTCCATGGATCACCTGGGGATTACTAGC AGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGTGA TTACTAGTGCTACATGGATCACCAGGGGATTACTAGCAGTGCATGGATCA CCAGGGGATTACTAGCGGTCCATGGATCACCAGGGGATTACTAGCAGTGC ATGGATCACCAGGGGATTACTAGCAGTGTATGGATCACCAGGGGATTACT AGCGGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGG GGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAACAGTGCATGGA TCACGAGGGTATTACTAGCAGTGCATGGATCACCAGGGGATTACAAGCGG TGTATGGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATT ATTAGCGGTGCATGGATCACCAGGTGATTACTAGCAGTGCATGGATCACC AGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACAAGCGGTGTAT GGATCACTAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTATTAG CAGTGCATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGGG ATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATC ACCAGGGGATTACTAGCAGTGCATGGATCACCAGGGGATTACTAGCAGTG CATGGATCACCAGGGGATTATTAGCAGTGTATGGATCACCAGGGGATTAC TAGCGGTGCATGGATCACCAGGGGATTACTAGCAGTGCATGGATCACTAG GGGATTATTAGCAGTGCATGGATCACCAGGGGATTATTAGCAGTGTATGG ATCACCAGGGGATTACTAGCGGTGCATGGATCACCAGGGGATTACTAGCA GTGCATGGATCACTAGGGGATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0088 a0001c0003t0016g0088	1	306	0.0033	1074	c.12 others(1087): Show c.12244_*12245insAATAATCCCCTAGTGATCCATGCACTGCTAGT AATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGGTGATCCATACA CTGCTAATAATCCCCTGGTGATCCATGCACTGCTAATAATCCCCTAGTGA TCCATGCACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCC CCTGGTGATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACTGCT AGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTGATCCAT GCACTGCTAGTAATCCCCTGGTGATCCATGCACCGCTAGTAATCCCCTGG TGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCACTGCTAATAA TCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTAGTGATCCATACACC GCTTGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCTGGTGATC CATGCACTGCTAGTAATCACCTGGTGATCCATGCACCGCTAATAATCCCC TGGTGATCCATGCACTGCTAGTAATCCCCTAGTGATCCATACACCGCTTG TAATCCCCTGGTGATCCATGCACTGCTAGTAATACCCTCGTGATCCATGC ACTGTTAGTAATCCCCTGGTGATCCATGCACTGCTAGTAATCCCCTGGTG ATCCATACACTGCTAATAATCCCCTGGTGATCCATGCACCGCTAGTAATC CCCTGGTGATCCATACACTGCTAGTAATCCCCTGGTGATCCATGCACTGC TAGTAATCCCCTGGTGATCCATGGACCGCTAGTAATCCCCTGGTGATCCA TGCACTGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCTG GTGATCCATGCACCACTAGTAATCCCCTGGTGATCCATGCACTGCTAGTA ATCCCCAGGTGATCCATGGACTGCTAGTAATCCCCAGGTTATCCATGCAC TGCTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCTGGTGAT CCATGCACCACTAGTAATCCCCAGGTGATCCATGCACTGCTA		SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding					2555		chr11	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(1067): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGG GTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGG GGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGC CGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAG CTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGG GTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGG AGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATG AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18950.hp2 NA18983.hp1 HG03704.hp1 NA18950.hp2 NA18983.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0006t0001 a0001c0001t0001 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0024 a0002c0002t0001g0227 a0003c0006t0001g0228 a0001c0001t0001g0024 a0002c0002t0001g0227 a0003c0006t0001g0228	3	292	0.0103	1074	c.395 others(1091): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTA GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGG TGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATG AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTG TGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAG TGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAA GAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTA GGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGAGCCGTG GGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTG AGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(1067): Show TTATATATATATTATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATACATAAA AATTATATATATATTATATATACATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATAATATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	1074	c.28 others(1085): Show c.2888_*2889insTATATATATATTATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATACATAAAAATTATATATATATTATATATACATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2210		chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(1067): Show TCACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACC ACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCAC CACCACTACCACTACCATCATAATTACCACCACCATCACCACCACCACCA CCACTATCACCATCATCACCACCACCACCACCACCACTAGCACAACCACA ACACTACCACATCACCACCACCACTACCACTACTACCATCACCATCACCA CCACCATCACCACCACCACCACAATACTACCACATCACCACCACCACCAT CATCATCACCACCACTACCACCACCACTACCACCACCACCACCATCACTA CTACCATCACCACCACCACCACCATCACCACCACCACGACCACCACAACA CTACCACATCACCACCACCACCATCACCACTGCCACCACCACTACCACCA CCACCACTACCACCATCGCCACCATCACCACCACATCACCACCACCACCA CCACTACTACCACCACCACCACCATCACCACTACTACCATCACCACTACC ACCACCACCACCATCACCACCACCATCACCACCACCACTACCACTACCAC CATCACAATCACCACCACCATCACCACCACCACTACCACCACCACCACTA CCACCATCGCCACCATCACCACCACATCACCACCACCACCACACTACCAC CACCACCACCATCACCACTACTACCATCACCACTACTACCACCACCACCA TCACAATCACCACTATCACCATCATCACCATCACTACCACCACCACCATC ACCATCATCGCCACCACCACCAACACTACTGCCACCACCACTATTACCAT CACCACCACTACTACCACCACCACTACCATAACCACCATCATCACCATCA CCATCATTACTGCTATTATGACCACCATCACTACCACCATTATCACCACC ACCACTAAACTACCACCACTACCTCACTGCCATCATCACCATCACCATTA CTAACATCACCATTACTAACATCACCATTATAATACTACCACCATCACTA CCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	360	0.0028	1074	c.24 others(1085): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGCGATGATGGTGATGGTGGT GGTGGTAGTGATGGTGATGATGGTGATAGTGGTGATTGTGATGGTGGTGG TGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTG TGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGG TGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTG GTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGT GATGGTAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGG TGGTGATGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAG TGGTGGTGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGT GGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGG TGGTGGTGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTG GTGGTGATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGT GCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGG TGGTGATGGTGGTGGTAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTG GTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATTAT GATGGTGGTAGTGGTAGTGGTGGTGGTGGTGATGATGGTG		TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding					1988		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238871163	C C	CCACACAC others(1067): Show CCACACACCCTACACACCCCACACACACCACACACACACATCACATACCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACACCACACCCCCACACACACCACAC AAACCACACACCCTACACACCCCACACACACCACACAAACCACACACCCT ACACACCCCACACACACCCCACACACACATCACATACCACACACAAACCA CACACCCAACACACACATCACACACCACACACCCCACACACACATCACAT ACCACACACAAACCACACACCCTACACACACCACACACCCCACACACACA TCACACACCACACACACCACACACACCCCACACACACCACACACACATCA CACACCACACACACCCCACACACACCACACACACACATCACACACCACAC ACACCACACACACCCCACACACACCACACACACACATCACATACCACACA CCCGACACACGCCACACACACACCACACACCCCACGCACACATCACATAC CACACACAAACCACACACCCTACACACACCACACACCCCACACACACCAC ACACACACCACACACACATCACATACCACACACAAACCACACACCCAACA CACACATCACACACCACACACCCCACACACACATCACATACCACACACAA ACCACACACCCCACACACACATCACATACCACACACAAACCACACACCCC ACACACAAGCCACACACCCCACACACACATCACATACCACACACCCCCAC ACACCCCACACACCCCCACACACCCCACACACCCCACACACACCACACAC CCCACACACACACCACACACCCCACACACCCCACACACCCCACACACACA TCACATACCACACACAAACCACACACCCTACACACACCACACACCCCACA CACACCCACACACCCGACACACGCCACACACACACCACACACCCCACGCA CACATCACATACCACACACAAACCACACACCCTACATACCCCACACACCC CACACACACCACACACCACACACCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	338	0.0030	1074	c.35 others(1093): Show c.35+22437_*35+22438insCCTACACACCCCACACACACCACACA CACACATCACATACCCACACACACCACACACCCCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCACACACACACCACACC CCCACACACACCACACAAACCACACACCCTACACACCCCACACACACCAC ACAAACCACACACCCTACACACCCCACACACACCCCACACACACATCACA TACCACACACAAACCACACACCCAACACACACATCACACACCACACACCC CACACACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACATCACACACCACACACACCACACACACCCCACACA CACCACACACACATCACACACCACACACACCCCACACACACCACACACAC ACATCACACACCACACACACCACACACACCCCACACACACCACACACACA CATCACATACCACACACCCGACACACGCCACACACACACCACACACCCCA CGCACACATCACATACCACACACAAACCACACACCCTACACACACCACAC ACCCCACACACACCACACACACACCACACACACATCACATACCACACACA AACCACACACCCAACACACACATCACACACCACACACCCCACACACACAT CACATACCACACACAAACCACACACCCCACACACACATCACATACCACAC ACAAACCACACACCCCACACACAAGCCACACACCCCACACACACATCACA TACCACACACCCCCACACACCCCACACACCCCCACACACCCCACACACCC CACACACACCACACACCCCACACACACACCACACACCCCACACACCCCAC ACACCCCACACACACATCACATACCACACACAAACCACACACCCTACACA CACCACACACCCCACACACACCCACACACCCGACACACGCCACACACACA CCACACACCCCACGCACACATCACATACCACACACAAACCACACACCCTA CATACCCCACACACCCCACACACACCACACACCACACACCACACACAC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(1067): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCTC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCT CCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACC AACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCC GCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCA ACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTC CATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACC CCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTC CACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCC ACCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCC CGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGC CGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0318 a0001c0001t0005g0318	1	346	0.0029	1074	c.181 others(1095): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCG CGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG TGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGG TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGAT GGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGT TGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGG GGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGG AGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGG		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF560_chr19_9461355_9503616	9491840	A A	ATTCTTAA others(1067): Show ATTCTTAAGACAGCATATACCACATTTCAATGTGCTTTAACCCATCTACA GGGATGGTTATAATGCTTACAAGTGAGTGAACACCAAGTGATTGCAGTGC ACCAAGCTCAGACTGCAGTACAGATTTTTAAGCACTTGGTCGATATAATC CACCAGATACAATGATACTCAAAGTATCCATAGTAAATAATATGTTGCTG GAAGCCTCTAGCAAGCACCAGTAGGAAAATCATAGCAGTAGTTCAGAATA AATATATTCCCTCTTCTGCAGGAAACTAGTCTCCTTTTGAGTAAACAGTT ACTACTGGGTTCAACACAGAAGTTGTACATGGGACATCAAGTGACCAAGT GGCCTGAGCTTCCTACCATGAACTTGAGGTTGTCTGACCCACAAAACTCC AAGTTCGGGGAAAATGCAGCAGCAATCTGTTATCAAATGGAAATGGCACA GAAGACATTGAGCTCTAGAAGTTCCAGCGAGTACAAGTAAACTGCATGAG CAAATGGCAAAGACTCAACACAAGCTCCATTCCCACTGTCTCATTTCCCT CAATCCATGCCTGTGGCTTCCTGAGCTATTTCTTATGCCTATCTGAGACA AGTCCTGTTTATGGATGTGTCTGCACAATATGCTAGCATGACCCAAAAGT GGGAGCACAAACACAACAGCTCAGCTGAACGATGACACCGAAAGACTGTA ATATCTTTCAGATAAAAATAGCATCCCAGTGGCAGAACTTCTCACAGTAT ATTTGACTATCCTCTGGGTCTGGAGGACATGGCCAGAAGGACATGTAAAC AATGATCCATGAACAGTTGCTAATGGTTTCACTGAATGGTCAAGGATGTA TATGGAACAAGACTGGTAAGTCTAGAAAAACATGTATGGATAGCTCTCTT AAAGGACATGGGCCGTGAAGATATTTGTGTCCCATGTAAATGGCCAGCAA AGGCAATCCACTGAAAATGAGACTTTTAATAATCAGATGGACAAAATGAT ACTCTATATAGAAGTCAATTGCTTTCCCCTGCCACCCCAATGTTTGCTCC ATAGGCCCTTGAATAAGATGGCCAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	410	0.0024	1074	c.-57 others(1091): Show c.-57+6287_-57+6288insATGGCCATCTTATTCAAGGGCCTATGGA GCAAACATTGGGGTGGCAGGGGAAAGCAATTGACTTCTATATAGAGTATC ATTTTGTCCATCTGATTATTAAAAGTCTCATTTTCAGTGGATTGCCTTTG CTGGCCATTTACATGGGACACAAATATCTTCACGGCCCATGTCCTTTAAG AGAGCTATCCATACATGTTTTTCTAGACTTACCAGTCTTGTTCCATATAC ATCCTTGACCATTCAGTGAAACCATTAGCAACTGTTCATGGATCATTGTT TACATGTCCTTCTGGCCATGTCCTCCAGACCCAGAGGATAGTCAAATATA CTGTGAGAAGTTCTGCCACTGGGATGCTATTTTTATCTGAAAGATATTAC AGTCTTTCGGTGTCATCGTTCAGCTGAGCTGTTGTGTTTGTGCTCCCACT TTTGGGTCATGCTAGCATATTGTGCAGACACATCCATAAACAGGACTTGT CTCAGATAGGCATAAGAAATAGCTCAGGAAGCCACAGGCATGGATTGAGG GAAATGAGACAGTGGGAATGGAGCTTGTGTTGAGTCTTTGCCATTTGCTC ATGCAGTTTACTTGTACTCGCTGGAACTTCTAGAGCTCAATGTCTTCTGT GCCATTTCCATTTGATAACAGATTGCTGCTGCATTTTCCCCGAACTTGGA GTTTTGTGGGTCAGACAACCTCAAGTTCATGGTAGGAAGCTCAGGCCACT TGGTCACTTGATGTCCCATGTACAACTTCTGTGTTGAACCCAGTAGTAAC TGTTTACTCAAAAGGAGACTAGTTTCCTGCAGAAGAGGGAATATATTTAT TCTGAACTACTGCTATGATTTTCCTACTGGTGCTTGCTAGAGGCTTCCAG CAACATATTATTTACTATGGATACTTTGAGTATCATTGTATCTGGTGGAT TATATCGACCAAGTGCTTAAAAATCTGTACTGCAGTCTGAGCTTGGTGCA CTGCAATCACTTGGTGTTCACTCACTTGTAAGCATTATAACCATCCCTGT AGATGGGTTAAAGCACATTGAAATGTGGTATATGCTGTCTTAAGAA		ZNF560	ENSG00000198028.4	transcript	ENST00000301480.5	protein_coding	2/9						chr19	TogoVar
ADAMTS17_chr15_99966437_100346975	100162448	T T	TGTATATA others(1068): Show TGTATATATATGCACATATACACATGCGTGTATATATATGCACATACACA TGCGTGTATATATATGCACATATACACATGCGTGTATATATATGCACATA TACACATGCGTGTATATATATGCACATATACACATGCGTGTATATATATG CACATATACACATGCGTGTATATATATGCACATATACACATGCGTGTATA TATATGTGCACATATACACATGCGTGTATATATATGTGCACATATACACA TGCGTGTATATATATGTGCACATATACACATGCGTGTATATATATGTGCA CATATACACATGCGTGTATATATATGTGCACATATACACATGCGTGTATA TATATGTGCACATATACACATGCGTGTATATATATGTGCACATATACACA TGCGTGTATATATATGTGCACATATACACATGCGTGTATATATATGTGCA CATATACACATGCGTGTATATATATGTGCACATATACACATGCGTGTATA TATATGTGCACATATACACATGCGTGTATATATATGTGCACATATACACA TGCGTGTATATATATGTGCACATATACACATGCGTGTATATATGTGCACA TATACACATGCGTGTATATATGTGCACATATACACATGCGTGTATATATG TGCACATATACACATTATATGTGTGTATATATGTGCACATATACACATTA TATGTGTGTATATATGTGCACATATACACATTATATGTGTGTATATATAT GCACATATACACATTATATGTGTGTATATATGCACATATACACATTGTGT GTATATATGCACATATACACATTGTGTGTATATATGCACATATACACATT ATATGTGTATATATATGCACATATACACATTATATGTGTATATATATGCA CATATACACATATGTGTGTATATATATGCACATATACACATATGTGTGTA TATATATGCACATATACACATATGTGTGTATATATATGCACATATACAAA TTAGTGTGTATATATATGCACATATACACATTATATGTGTGTATATATAT GCACATATACACATTATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0073 a0002c0001t0073	a0002c0001t0073g0227 a0002c0001t0073g0227	1	228	0.0044	1075	c.118 others(1094): Show c.1182-7129_1182-7128insTACACACATATAATGTGTATATGTGC ATATATATACACACATATAATGTGTATATGTGCATATATATACACACTAA TTTGTATATGTGCATATATATACACACATATGTGTATATGTGCATATATA TACACACATATGTGTATATGTGCATATATATACACACATATGTGTATATG TGCATATATATACACATATAATGTGTATATGTGCATATATATACACATAT AATGTGTATATGTGCATATATACACACAATGTGTATATGTGCATATATAC ACACAATGTGTATATGTGCATATATACACACATATAATGTGTATATGTGC ATATATATACACACATATAATGTGTATATGTGCACATATATACACACATA TAATGTGTATATGTGCACATATATACACACATATAATGTGTATATGTGCA CATATATACACGCATGTGTATATGTGCACATATATACACGCATGTGTATA TGTGCACATATATACACGCATGTGTATATGTGCACATATATATACACGCA TGTGTATATGTGCACATATATATACACGCATGTGTATATGTGCACATATA TATACACGCATGTGTATATGTGCACATATATATACACGCATGTGTATATG TGCACATATATATACACGCATGTGTATATGTGCACATATATATACACGCA TGTGTATATGTGCACATATATATACACGCATGTGTATATGTGCACATATA TATACACGCATGTGTATATGTGCACATATATATACACGCATGTGTATATG TGCACATATATATACACGCATGTGTATATGTGCACATATATATACACGCA TGTGTATATGTGCACATATATATACACGCATGTGTATATGTGCACATATA TATACACGCATGTGTATATGTGCATATATATACACGCATGTGTATATGTG CATATATATACACGCATGTGTATATGTGCATATATATACACGCATGTGTA TATGTGCATATATATACACGCATGTGTATATGTGCATATATATACACGCA TGTGTATGTGCATATATATACACGCATGTGTATATGTGCATATATATAC		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
AHRR_chr5_316714_443285	345208	G G	GCGGGGGG others(1068): Show GCGGGGGGAGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTG GGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGT GGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTG TGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTG TGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGT GCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGG CTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTG TGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGT GTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGT GTGTGACTGCGGGTGTGCGAGGCTGTGTGAGACTGTGTGCGGGTGTGTGT GGGGGACTGTAGGGAGCTGTGTGTGGCAGGTGTGTGTGGGGTGTGTGTGA GACTGTGCAGGTGTGCAGGTGTGCGAAGCTGTGTGAGACTGCGTGTGCAG GTGTGTGTGGAGGGCTGTGGGGAGCTGTGTGTGTGGGGGGTGTGTGTGTG AGGTTGTGGGGGGCTGTGTGGGGTGTGTGTGAGGCTGCGTGTGGGGAGTG TGAGGCTGTGTGTGTGCGAGGGGGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0231 a0006c0006t0021g0234 a0006c0006t0021g0231 a0006c0006t0021g0234	2	268	0.0075	1075	c.62+ others(1090): Show c.62+1244_62+1245insCGGGGGGAGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGGGTGTGTGTGACTGCGGGTGTGCGAGGCTGTGTGAG ACTGTGTGCGGGTGTGTGTGGGGGACTGTAGGGAGCTGTGTGTGGCAGGT GTGTGTGGGGTGTGTGTGAGACTGTGCAGGTGTGCAGGTGTGCGAAGCTG TGTGAGACTGCGTGTGCAGGTGTGTGTGGAGGGCTGTGGGGAGCTGTGTG TGTGGGGGGTGTGTGTGTGAGGTTGTGGGGGGCTGTGTGGGGTGTGTGTG AGGCTGCGTGTGGGGAGTGTGAGGCTGTGTGTGTGCGAGGGGGAC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10						chr5	TogoVar

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Search Results (Total: 10000 hits)