Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
B3GNTL1_chr17_82937149_83056770	82972492	T T	TGCCGACC others(297): Show TGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAG GGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCG ACACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAG GGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGAC CTGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0018 a0001c0006t0011g0018	1	266	0.0038	304	c.460 others(321): Show c.460-6747_460-6746insTCCAGGTCCTTCTGGCCCGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCACCAG GTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCC TGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCGGC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(297): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA19057.hp1 HG04204.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0238 a0001c0002t0004g0296 a0001c0001t0003g0238 a0001c0002t0004g0296	2	416	0.0048	304	c.-42 others(315): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C1QTNF8_chr16_1083226_1101244	1092978	T T	TGCACACA others(297): Show TGCACACAGTCGGCGCTCAACCAATCCGTGCACACAGCGCTCAACCAATC ACAGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAA CCAATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGC GCTCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATCCCTG CACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAA TCACA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	396	0.0025	304	c.4+ others(317): Show c.4+518_*4+519insTGTGATTTGTTGAGCGCCGACTGTGTGCAGGG ATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCAGGGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGA CTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAG CGCCGACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTG GTTGAGCGCCGACTGTGTGCTGTGATTGGTTGAGCGCTGTGTGCACGGAT TGGTTGAGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
CACNA1B_chr9_137872782_138129619	138126583	C C	CCCCCGGC others(297): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG03471.hp1 others(1): Show HG02717.hp2 HG03098.hp2 HG03471.hp1 NA18522.hp2	a0001 a0017 a0001 a0017	a0001c0003 a0001c0048 a0017c0047 a0001c0003 a0001c0048 a0017c0047	a0001c0003t0006 a0001c0003t0044 a0001c0048t0006 others(1): Show a0001c0003t0006 a0001c0003t0044 a0001c0048t0006 a0017c0047t0006	a0001c0003t0006g0136 a0001c0003t0044g0011 a0001c0048t0006g0101 others(1): Show a0001c0003t0006g0136 a0001c0003t0044g0011 a0001c0048t0006g0101 a0017c0047t0006g0116	4	248	0.0161	304	c.45 others(315): Show c.4584_*4585insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1965		chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39602010	T T	TTCCCTCC others(297): Show TTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTC TCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0024 a0024	a0024c0035 a0024c0035	a0024c0035t0044 a0024c0035t0044	a0024c0035t0044g0167 a0024c0035t0044g0167	1	236	0.0042	304	c.482 others(321): Show c.482+1360_482+1361insCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602010	T T	TTCCCTCC others(297): Show TTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTC TCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	236	0.0042	304	c.482 others(321): Show c.482+1360_482+1361insCTCCTTCCTTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTC TTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCCTCCCTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCTTCC others(297): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	236	0.0042	304	c.482 others(321): Show c.482+1379_482+1380insCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCC CTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTTCCTTC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMTA1_chr1_6780454_7774706	7426179	T T	TAAAAAGG others(297): Show TAAAAAGGTGAGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCAGCAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG03041.hp1 HG02451.hp1 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0008 a0001c0002t0003 a0001c0015t0006 a0001c0001t0008 a0001c0002t0003 a0001c0015t0006	a0001c0001t0008g0003 a0001c0002t0003g0025 a0001c0015t0006g0043 a0001c0001t0008g0003 a0001c0002t0003g0025 a0001c0015t0006g0043	3	58	0.0517	304	c.439 others(323): Show c.439-41638_439-41637insGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCAGCAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAGGTGAGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN5_chr11_77061971_77131155	77098708	G G	GCGGCTGG others(297): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0274 a0001c0001t0004g0274	1	382	0.0026	304	c.297 others(321): Show c.297+4910_297+4911insGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACC TCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCAGGCGG	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBFA2T3_chr16_88869858_88982207	88955464	C C	CCCAAGGC others(297): Show CCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCCCAGCCAAGGCTCCT GACCCCAGCCAAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAA GGCTCCTGACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCC CACCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCCAAGGCTC CTGACCCCAGCCAAGGCTCCTGACCCCAGCCAAGGCTCCTGACCCCACCC AAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCCACCCAAGGCTCCTGAC CTCAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0231 a0001c0001t0001g0019 a0001c0001t0001g0231	2	284	0.0070	304	c.151 others(323): Show c.151+21192_151+21193insCTGAGGTCAGGAGCCTTGGGTGGGGT CAGGAGCCTTGGCTGAGGTCAGGAGCCTTGGGTGGGGTCAGGAGCCTTGG CTGGGGTCAGGAGCCTTGGCTGGGGTCAGGAGCCTTGGGTGGGGTCAGGA GCCTTGGCTGGGGTCAGGAGCCTTGGGTGGGGTCAGGAGCCTTGGGTGGA GTCAGGAGCCTTGGCTGAGGTCAGGAGCCTTGGCTGAGGTCAGGAGCCTT GGGCGGGGTCAGGAGCCTTGGCTGGGGTCAGGAGCCTTGGCTGGGGTCAG GAGCCTTGGGCGGGGTCAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC30_chr1_42458286_42662190	42535699	T T	TATATATA others(297): Show TATATATATATTATATATATATAATATATATATTATATATATATAATATA TATATTATATATATATAATATATATATTATATATATATAATATATATATT ATATATATATAATATATATATTATATATATATAATATATATATTATATAT ATATTATATATATATTATATATATATAATATATATATTATATATATATAA TATATATATAATATATATATAATATATATATAATATATATATAATATATA TAATATATATATTATATATATTATATATATATAAAATATATATTATATAT ATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	324	0.0031	304	c.457 others(319): Show c.457-757_457-756insTAATATATATATTATATATATATAATATAT ATATTATATATATATAATATATATATTATATATATATAATATATATATTA TATATATATAATATATATATTATATATATATAATATATATATTATATATA TATTATATATATATTATATATATATAATATATATATTATATATATATAAT ATATATATAATATATATATAATATATATATAATATATATATAATATATAT AATATATATATTATATATATTATATATATATAAAATATATATTATATATA TATAATATATATATTATATATATA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCKAR_chr4_26476396_26495484	26484866	A A	ACCCAATC others(297): Show ACCCAATCTCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG03540.hp2 others(1): Show HG02486.hp1 HG02572.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0038 a0001c0001t0003g0105 a0001c0001t0006g0103 a0001c0001t0003g0038 a0001c0001t0003g0105 a0001c0001t0006g0103	4	454	0.0088	304	c.626 others(319): Show c.626+770_626+771insCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAGAGATTGGG	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding	3/4			chr4	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(297): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATATACTCATATA TATATATACTCATATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TACTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0106 a0002c0002t0003g0106	1	370	0.0027	304	c.232 others(325): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATATA TATATACTCATATATATATATATATATATATACTCATATATATATATATA TATATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(297): Show TATATATATATATATATATATATATATATATACACTCATATATATATATA TACTCATATATATATATATATACTCATATATATATATATATATACTCATA TATATATATACTCATATATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACTCATATATATATATATACTCATATATATATATACT CATATATATATATATATATATATATACTCATATATATATATATATATATA TACTC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0129	1	370	0.0027	304	c.232 others(325): Show c.2326-11590_2326-11589insTATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATATATACTCATATATATATATATATA TATATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(297): Show TATATATATATATATATATATATATATATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATATACTCA TATATATATATACTCATATATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATACTCATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA CTCATATATATATATATATATATATACTCATATATATATATATATATATA TACTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18612.hp2 HG04204.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0126 a0002c0002t0003g0362 a0002c0002t0003g0126 a0002c0002t0003g0362	2	370	0.0054	304	c.232 others(325): Show c.2326-11590_2326-11589insTATATATATATACACTCATATATA TATATATACTCATATATATATATATATACTCATATATATATATATATATA CTCATATATATATATACTCATATATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATACTCATATATATATA TACTCATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATATATATATATACTCATATATATATATATATA TATATACTCATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(297): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	442	0.0023	304	c.27 others(315): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH13_chr16_82621969_83805640	82794350	T T	TAAGAACA others(297): Show TAAGAACACTTTACACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01168.hp1 HG02698.hp1 others(1): Show HG00438.hp1 HG01168.hp1 HG02698.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0001 a0001c0002t0002 a0002c0012t0002 a0001c0002t0001 a0001c0002t0002 a0002c0012t0002	a0001c0002t0001g0059 a0001c0002t0001g0098 a0001c0002t0002g0032 others(1): Show a0001c0002t0001g0059 a0001c0002t0001g0098 a0001c0002t0002g0032 a0002c0012t0002g0019	4	110	0.0364	304	c.46- others(321): Show c.46-64000_46-63999insCACTTTGGGAGGCCGAGGCGGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAGGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAACACTTTA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61383629	A A	ATCTATAT others(297): Show ATCTATATATGATATATATGAATATATGAATATATGATACGTATGAATAT ATATGATATATATGGATATAAGATACGTATGAATATATATCATATATGTA TATATGATATGATATATATATGAATATATGATATATATGAACATATATAT GGATATTATGAATATATATGATATATATGAATATATATGGATATATATGA ATATATATGATATATGAATATATATGGATATATATGAATATATATGATTG ATATATATCATATATGTATGCATATATGTGATATATATCATATATGAATA TATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03130.hp1 others(1): Show HG02622.hp1 HG02647.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0001t0009 a0001c0001t0038 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0038 a0001c0020t0006	a0001c0001t0001g0030 a0001c0001t0009g0013 a0001c0001t0038g0092 others(1): Show a0001c0001t0001g0030 a0001c0001t0009g0013 a0001c0001t0038g0092 a0001c0020t0006g0094	4	106	0.0377	304	c.169 others(325): Show c.169+128694_169+128695insTATATATGATATATATGAATATAT GAATATATGATACGTATGAATATATATGATATATATGGATATAAGATACG TATGAATATATATCATATATGTATATATGATATGATATATATATGAATAT ATGATATATATGAACATATATATGGATATTATGAATATATATGATATATA TGAATATATATGGATATATATGAATATATATGATATATGAATATATATGG ATATATATGAATATATATGATTGATATATATCATATATGTATGCATATAT GTGATATATATCATATATGAATATATATTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61383629	A A	ATCTATAT others(297): Show ATCTATATATGATATATATGAATATATGAATATATGATACGTATGAATAT ATATGATATATATGGATATATGATACGTATGAATATATATCATATATGTA TATATGATATGATATATATATGAATATATGATATATATGAACATATATAT GGATATTATGAATATATATGATATATATGAATATATATGGATATATATGA ATATATATGATATATGAATATATATGGATATATATGAATATATATGATTG ATATATATCATATATGTATGCATATATGTGATATATATCATATATGAATA TATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00738.hp2 others(35): Show HG00408.hp2 HG00639.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18952.hp2 NA18960.hp2 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0015 a0002c0024 a0005c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0001t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0006t0021 a0001c0007t0010 a0001c0007t0046 a0001c0010t0009 a0001c0012t0001 a0001c0021t0008 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0023 a0002c0002t0039 a0002c0004t0002 a0002c0004t0003 a0002c0004t0026 a0002c0005t0007 a0002c0005t0020 a0002c0005t0024 a0002c0005t0030 a0002c0015t0007 a0002c0024t0047 a0005c0025t0011	a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0076 others(35): Show a0001c0001t0001g0049 a0001c0001t0002g0059 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0011g0005 a0001c0001t0011g0033 a0001c0001t0017g0065 a0001c0001t0040g0055 a0001c0003t0001g0020 a0001c0003t0002g0002 a0001c0003t0017g0067 a0001c0006t0021g0004 a0001c0007t0010g0037 a0001c0007t0010g0044 a0001c0007t0046g0066 a0001c0010t0009g0045 a0001c0012t0001g0008 a0001c0021t0008g0047 a0002c0002t0004g0068 a0002c0002t0004g0070 a0002c0002t0005g0014 a0002c0002t0012g0082 a0002c0002t0012g0104 a0002c0002t0013g0017 a0002c0002t0016g0075 a0002c0002t0023g0102 a0002c0002t0039g0058 a0002c0004t0002g0080 a0002c0004t0003g0093 a0002c0004t0026g0050 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0020g0056 a0002c0005t0024g0048 a0002c0005t0030g0103 a0002c0015t0007g0025 a0002c0024t0047g0051 a0005c0025t0011g0099	38	106	0.3585	304	c.169 others(325): Show c.169+128694_169+128695insTATATATGATATATATGAATATAT GAATATATGATACGTATGAATATATATGATATATATGGATATATGATACG TATGAATATATATCATATATGTATATATGATATGATATATATATGAATAT ATGATATATATGAACATATATATGGATATTATGAATATATATGATATATA TGAATATATATGGATATATATGAATATATATGATATATGAATATATATGG ATATATATGAATATATATGATTGATATATATCATATATGTATGCATATAT GTGATATATATCATATATGAATATATATTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(297): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0016 a0005c0010t0016	a0005c0010t0016g0037 a0005c0010t0016g0037	1	334	0.0030	304	c.-25 others(315): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(297): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0004 a0001c0020t0004	a0001c0020t0004g0219 a0001c0020t0004g0219	1	334	0.0030	304	c.-25 others(315): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(297): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	388	0.0026	304	c.487 others(321): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(297): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19085.hp2 NA18974.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0085 a0001c0001t0001g0089	2	388	0.0052	304	c.487 others(321): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	304	c.11 others(315): Show c.1153_*1154insCTAGATGTATCTATATATCTATCTAGATGTATCT ATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATAT CTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCT AGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGT ATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTAT ATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCT AGATGTATCTATATATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		255		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882023	T T	TATAGATA others(297): Show TATAGATATATAGATACATCTATATAGATATATAGATACATCTAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	440	0.0023	304	c.11 others(315): Show c.1153_*1154insCTAGATGTATCTATATATCTATCTAGATGTATCT ATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATAT CTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCT AGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGT ATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTAT ATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATAT AGATGTATCTATATATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		255		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(297): Show TATAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGA TACATAGATACATCTATATAGATACATAGATACATCTATATAGATACATA GATACATCTATATAGATACATAGATACATCTATATAGATACATAGATACA TCTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA TAGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATA TATAGATACATCTATATAGATAGATACATCTATATAGATAGATACATCTA TATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0247 a0007c0009t0002g0247	1	440	0.0023	304	c.10 others(315): Show c.1087_*1088insCTATATAGATGTATCTATCTATATAGATGTATCT ATCTATATAGATGTATCTATATATCTATATAGATGTATCTATGTATCTAT ATAGATGTATCTATGTATCTATATAGATGTATCTATGTATCTATATAGAT GTATCTATGTATCTATATAGATGTATCTATGTATCTATATAGATGTATCT ATGTATCTATATAGATGTATCTATGTATCTATATAGATGTATCTATGTAT CTATATAGATGTATCTATGTATCTATATAGATGTATCTATGTATCTATAT AGATGTATCTATGTATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		189		chr13	TogoVar
CFAP46_chr10_132803392_132947570	132931257	G G	GCAGAGCC others(297): Show GCAGAGCCTGGGCCTTCCCCACACTCCCCACGCAGAGCCTGGGCCTTCCC CACACTCCCCACGCAGAGCCTGGGCCTTCCCCACACTCCCCACGCAGAGC CTGGGCTTTCCTCCTCCCCACACAGAGCCTGGGCCTTCCCCACACTCCCC ACACAGAGCCTGGGCCTTCCCCACACTCCCCACGCAGAGCCTGGGCCTTC CCCACACTCCCCACGCAGAGCCTGGGCCTTCCCCACACTCCCCACGCAGA GCCTGGGCCTTCCTCCTCCCCACACAGAGCCTGGGCCTTCCCCACACTCC CCACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	246	0.0041	304	c.867 others(321): Show c.867-1454_867-1453insTGTGGGGAGTGTGGGGAAGGCCCAGGCT CTGTGTGGGGAGGAGGAAGGCCCAGGCTCTGCGTGGGGAGTGTGGGGAAG GCCCAGGCTCTGCGTGGGGAGTGTGGGGAAGGCCCAGGCTCTGCGTGGGG AGTGTGGGGAAGGCCCAGGCTCTGTGTGGGGAGTGTGGGGAAGGCCCAGG CTCTGTGTGGGGAGGAGGAAAGCCCAGGCTCTGCGTGGGGAGTGTGGGGA AGGCCCAGGCTCTGCGTGGGGAGTGTGGGGAAGGCCCAGGCTCTGCGTGG GGAGTGTGGGGAAGGCCCAGGCTCTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(297): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	402	0.0025	304	c.80- others(319): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(297): Show AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	402	0.0025	304	c.80- others(319): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTATATATTAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575549	T T	TGTGTGTA others(297): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	372	0.0027	304	c.894 others(319): Show c.894+721_894+722insGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLIP2_chr7_74284407_74410935	74370155	C C	CAAAAAAA others(297): Show CAAAAAAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCT GTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGA GCTCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAAT ACAAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCG GAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGA GCCAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTG CCTCA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	278	0.0036	304	c.138 others(323): Show c.1381-2757_1381-2756insAAAAAATCCAGGCACGGTGGCTCATG CCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCA GGAGCTCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAA AATACAAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTAC TCGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGC TGAGCCAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACT CTGCCTCAAAAAAAAAAAAAAAAAAAAA	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124860420	C C	CTTCTTTC others(297): Show CTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT TCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0055 a0001c0002t0016g0055	1	64	0.0156	304	c.321 others(323): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCTTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43691425	G G	GAAAGAAA others(297): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAAAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA GAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA AAGAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	384	0.0026	304	c.-39 others(323): Show c.-39+38003_-39+38004insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45499520	G G	GCATGGCA others(297): Show GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG TGGGCTGCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTG GGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAG AGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAAC AGTGGGGTCAGAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGC ATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTG CCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0001 a0028c0097t0001	a0028c0097t0001g0036 a0028c0097t0001g0036	1	292	0.0034	304	c.268 others(323): Show c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCGCATG GCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGC TGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAA CCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGC TCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTG GGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCC CAGGAACAGTGGGGTCAGAGGCTCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098448	T T	TATAAATA others(297): Show TATAAATATATATAAATATATAAATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATGTAAATATATAAATATATATA AATATATATATAAATATATATATATAAATATATATAAATATATAAATATA TATAAATACATATGTAAATATATAAATATATATAAATATATAAATATATA TAGATATATATATAAATATATATAAATATATATAGATATATATATAAATA TATATAAATATATATAGATATATATAAATATATATAAATATATAGATATA TATAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp1 HG03688.hp2 others(4): Show HG02132.hp2 HG02155.hp1 HG03688.hp2 NA18939.hp1 NA19083.hp2 NA19084.hp2 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006	a0002c0003t0001g0109 a0002c0003t0001g0115 a0002c0003t0001g0116 others(4): Show a0002c0003t0001g0109 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0153 a0002c0003t0001g0252 a0002c0003t0003g0071 a0002c0003t0006g0023	7	264	0.0265	304	c.181 others(323): Show c.1812+3023_1812+3024insTTATATATATCTATATATTTATATAT ATTTATATATATCTATATATATTTATATATATTTATATATATATCTATAT ATATTTATATATATTTATATATATATCTATATATATTTATATATTTATAT ATATTTATATATTTACATATGTATTTATATATATTTATATATTTATATAT ATTTATATATATATATTTATATATATATTTATATATATTTATATATTTAC ATATATATTTATATATTTATATATATTTATATATATATTTATATATATTT ATATATTTATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL6A1_chr21_45976770_46010048	45987827	G G	GAGGGGAC others(297): Show GAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCTCCAGATGGAGGGG ACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACG GCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGG GGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCA GATGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0105 a0001c0003t0015g0105	1	128	0.0078	304	c.804 others(319): Show c.804+179_804+180insCGGCGGGAGTCCAGATGGAGGGGACGGCGT GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGCT CCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCA GATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATG GAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG GGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGA TGTCGGGGCTCCAGATGTAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987860	C C	CGTGGTCC others(297): Show CGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGGACGGCGG GGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGC TCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCA GATGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGAT GGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG GGGATGTCGGGGCTCCAGATGTAGGGGACGGCGGGGTCCAGATGGAGGGG ATGGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0005 a0001c0003t0006g0005	1	128	0.0078	304	c.804 others(319): Show c.804+207_804+208insTGGTCCAGATGGAGGGGACGGCGGGGTCCA GATGGAGGGGGACGGCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGA TGGAGGGGATGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGG AGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGGAGG GGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC GGCGGGGTCCAGATGGAGGGGATGTCGGGGCTCCAGATGTAGGGGACGGC GGGGTCCAGATGGAGGGGATGGTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(297): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCT CTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	350	0.0029	304	c.510 others(323): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC CCCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(297): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGCTCCGCCTCCCA GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGG TTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0053 a0002c0007t0001g0053	1	330	0.0030	304	c.591 others(319): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(297): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCGTCCCCTCTTTCT CCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCACCACC CTGGGTCCCCTCTTGCCCCTCCCTCCCACCACCCCGGGTCCCCTCTTGCC CCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCC CGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCC CTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCC CGGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	324	0.0031	304	c.101 others(321): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTG CCCCTCCCTCCCACCACCCTGGGTCCCCTCTTGCCCCTCCCTCCCACCAC CCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGC CCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACC CCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGC CCCTCCCTCCCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSNK1G2_chr19_1936172_1986338	1967699	C C	CACCACCC others(297): Show CACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCC AGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCT CCCTTCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCCACCACCCTTCAGTTCT GCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACC CTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGC CCCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	382	0.0026	304	c.-26 others(323): Show c.-265-1776_-265-1775insCTCCTCCCTTCTCCCCAGGCTGCCCC CGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCC CAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTTCTCCCCAGGCTGCCCCCCACCACCCTTCAGTTCTGCAGGTGGGG CTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCT GCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCCGACCAC CCTTCAGTTCTGCAGGTGGGGCTCCTCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSRNP2_chr12_51056205_51088596	51079769	C C	CAAAAAAA others(297): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGTGTGGTGGCTCACGCCT CTAATCTCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAAGA GATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAAT ACAATGATTAGCCAGGTGTGGTGGCGAGTGCCTGTAATCTCAGCTACTCA GGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGTGGT GAGCCAAGATCGTGCCATTGCACTCTAGCCTGGGCAACAGAGGGAGACCT TGTCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02897.hp2 HG03579.hp2 HG02145.hp2 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0179 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0179	3	420	0.0071	304	c.-86 others(321): Show c.-86-3123_-86-3122insTGACAAGGTCTCCCTCTGTTGCCCAGGC TAGAGTGCAATGGCACGATCTTGGCTCACCACAACCTCCACCTCCCGGGT TCAAGCGATTCTCCTGCCACAGCCTCCTGAGTAGCTGAGATTACAGGCAC TCGCCACCACACCTGGCTAATCATTGTATTTTTGGTAGAGACGGGGTTTC ACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCACCCGC CTTGGCCTCCCAAAGTGCTGAGATTAGAGGCGTGAGCCACCACACCCAGC TTTTTTTTTTTTTTTTTTTTTTTTTT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	1/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165674048	T T	TAAAAATA others(297): Show TAAAAATAAATCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCA GGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTG GGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0088 a0001c0001t0020g0088	1	246	0.0041	304	c.409 others(321): Show c.409-2253_409-2252insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCA CTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATAAATC	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	67025885	T T	TAAGAAAA others(297): Show TAAGAAAATGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0009	a0001c0011t0009g0017 a0001c0011t0009g0017	1	46	0.0217	304	c.104 others(327): Show c.1047+154431_1047+154432insTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCCACATTTTCTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CUX2_chr12_111029165_111355554	111325963	T T	TGGGGGAG others(297): Show TGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGG TTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGT GGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGT GTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTGTTTATAGT GTTGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG06807.hp1 others(2): Show HG02630.hp1 HG03209.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0090 others(2): Show a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0007g0097	5	100	0.0500	304	c.292 others(323): Show c.2926+3385_2926+3386insGGGAGGGGTGGGTTTTGTTTATAGTG TTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGA GGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTGGGTTTGTTTATAGTGTTGCGG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(297): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01496.hp1 others(3): Show HG01069.hp2 HG01071.hp2 HG01496.hp1 HG03239.hp1 NA18959.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	6	444	0.0135	304	c.45 others(315): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
DCAF12_chr9_34081387_34131698	34115452	G G	GGCTGGGC others(297): Show GGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGA GGCGGGCGGATCACGTGGTCAGATCGAGACCATCCTGGCTAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACACCACTGTATTCCAG CCTGGGCCACAGAATGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02630.hp1 HG01891.hp1 HG02145.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0009 a0001c0001t0002 a0001c0001t0004 a0001c0003t0009	a0001c0001t0002g0263 a0001c0001t0004g0306 a0001c0003t0009g0087 a0001c0001t0002g0263 a0001c0001t0004g0306 a0001c0003t0009g0087	3	370	0.0081	304	c.334 others(321): Show c.334-7888_334-7887insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGATGGCGTCTCATTCTGTGGCCCAGGCTGGAATACAGTGGTGTGATCTC AGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACTGCGCCTGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTC TCGATCTGACCACGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGTGTGAGCCACCGTGCCCAGC	DCAF12	ENSG00000198876.13	transcript	ENST00000361264.9	protein_coding	2/8			chr9	TogoVar
DENND2C_chr1_114577850_114675049	114658771	A A	ACAGTTCT others(297): Show ACAGTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00735.hp2 others(19): Show HG00099.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01346.hp2 HG01952.hp2 HG02004.hp2 HG02602.hp2 HG02818.hp2 HG03017.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0003 a0003c0003t0007 a0003c0003t0039 others(1): Show a0003c0003t0003 a0003c0003t0007 a0003c0003t0039 a0003c0008t0007	a0003c0003t0003g0007 a0003c0003t0003g0270 a0003c0003t0003g0271 others(18): Show a0003c0003t0003g0007 a0003c0003t0003g0270 a0003c0003t0003g0271 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0280 a0003c0003t0003g0281 a0003c0003t0003g0283 a0003c0003t0003g0287 a0003c0003t0003g0289 a0003c0003t0003g0290 a0003c0003t0007g0274 a0003c0003t0007g0284 a0003c0003t0007g0286 a0003c0003t0007g0288 a0003c0003t0039g0285 a0003c0008t0007g0282	22	300	0.0733	304	c.-57 others(323): Show c.-573-4011_-573-4010insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAGAACTG	DENND2C	ENSG00000175984.16	transcript	ENST00000393274.6	protein_coding	1/20			chr1	TogoVar
DEPDC1B_chr5_60591912_60705166	60668061	T T	TTATATAT others(297): Show TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT ATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTAT ATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTAT ATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATTTT ATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	292	0.0034	304	c.314 others(323): Show c.314+18900_314+18901insTAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATA TATATAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATA TATAAAATATCCATTTTATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DLGAP1_chr18_3491032_4460307	4355867	C C	CTCTTCTG others(297): Show CTCTTCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0007 a0001c0006t0005g0007	1	80	0.0125	304	c.-26 others(325): Show c.-267+99138_-267+99139insCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGCAGAAGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar

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Search Results (Total: 10000 hits)