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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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
PSMC3_chr11_47413775_47431439	47429079	A A	ACCTCCCA others(890): Show ACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTC CTTGGCCTGCTTTAACAAGAATCCTGTTAGGCCATTTTAGCAAGAATCCC CCTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCG TGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGCCAGGAGA ATGGCGTGAACTCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAGAATCCCCCTACTGTTAATACTTCCCCTTAGTAATTTTCAATCC ACTGACCCCTTCACGTTGCTTTGGTTATAAATTCCCAGCTGTGTTTCCTG TATTCAGAATTGAGCTCAGTTCTATATGCAATCTTTTTCCTAATCCCCAA AGCCAGTGCCGGACCACAGCCTGGTGGAATGTTAAAGAGAAGGATTGACC TACCTGGATTTTAGGACCATTCTAGGCTGAACGTCTCATTCTTTTTTTTT TTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCA ATGGCACAATCACAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGAT TCTCCTGTCTCAGCCTCCCAAATAGCTGGGACTAAAGGCACCCACAACCA TACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGTGTTTCACCATGTTG GTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCAGCCTGTCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	2	380	0.0053	897	c.-28 others(908): Show c.-2801_-2800insCTGAGACAGGCTGATCACCTGAAGTCAGGAGTTT GAGACCAGCCTGACCAACATGGTGAAACACCGTCTCTACTAAAAATACAA AAATTAGCCAGGTATGGTTGTGGGTGCCTTTAGTCCCAGCTATTTGGGAG GCTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGC TGTGATTGTGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAAGAATGAGACGTTCAGCCTAGAATGGTC CTAAAATCCAGGTAGGTCAATCCTTCTCTTTAACATTCCACCAGGCTGTG GTCCGGCACTGGCTTTGGGGATTAGGAAAAAGATTGCATATAGAACTGAG CTCAATTCTGAATACAGGAAACACAGCTGGGAATTTATAACCAAAGCAAC GTGAAGGGGTCAGTGGATTGAAAATTACTAAGGGGAAGTATTAACAGTAG GGGGATTCTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCC TGAGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAGTAGGGGGATTCTTGCTAAAATGGCCTAACAGGATTCTTGT TAAAGCAGGCCAAGGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGG	PSMC3	ENSG00000165916.9	transcript	ENST00000298852.8	protein_coding		2641		chr11	TogoVar
RAB11FIP3_chr16_420649_528011	458540	C C	CCACAGGG others(890): Show CCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTC CTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC TGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCA CTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	295	0.0034	897	c.715 others(914): Show c.715-2840_715-2839insAGATTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGG GGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCT CGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTG ATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGG GCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGC CTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGT TCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCC CACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTG GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAG GGCCTGGGGGGCCTTCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458567	G G	GTTCAGTG others(890): Show GTTCAGTGATGTTCACAGGGCCTAGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGG GGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGA TGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	295	0.0034	897	c.715 others(914): Show c.715-2833_715-2832insGTGATGTTCACAGGGCCTAGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGC CTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC GGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCC TTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCC ACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGG GGGGCCTTCCTCAGATTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7147041	G G	GCGATCTC others(890): Show GCGATCTCGGCTCACTGCAAGCTCCGCCTACCGGGTTCACGCCACTCTCC TGCCTCAGCCTCCCAAGTAGCTTGGACTACAGGTACCCACCACCATGCTT GGCTAACTTTTTTTATTTTTAGTAGAGATGGGATTTCACCATGTTAGCCA CGATGGTCTCGATCTCATGACCTCGTGATCCACCCGCCTTGGCCTCCCAA ACTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGCCAAATGCGTTTTT TTCAACTGCAGTTGGTTCTAGTGTTTATTTGCATTTTGTTTTATTGCAGA CCTTCATGGCACTTGAAATCGGGCCTTGAGACTCCCACCGCAGTGGGTGC TGCGTATGTCACACTCAACACATGATTCTGTTAATTCACCAGCCAAGAGC CATCATGTGGCTGTGGTTGAAGCCCAAGGACCCTTTAGGTTTACTCTTGC TTCATCTCATGGCCTCCACCTTGACATTGAGGCTGTTGCTGTGGGCGAGT ACCTAGTTTATTTCTATGGAGAAATCTGATCAAACAGCATCTTGAGTTTG ACAGCAAACAAGAAAAACCATAGGGTCAGTGACATTTAAAGGAGTCCCAT GGAAGCCATGATTGGGATAAGTGAAGACTGAAGAAAAACAAATGGGGGTT ATTTTTCTAAGTGGGTTTTCAATAAGTAATTGTGTGTGTGTGTGTGTGTG TGTGTGTGTATGCAGGTGTGCACTCTTTTGGGTCTTTTGCGTGTGTTAAA TTTTTATTTTTTGCAATTTTTATTTTAGGTTCAAATACTACATGCACAGG TTTGTTACATGGGTAAATTGTTTATTTATTTAATTATTATTATTATTATT ATTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02738.hp1 HG00140.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0013 a0001c0001t0002g0016	2	68	0.0294	897	c.27+ others(914): Show c.27+94944_27+94945insGATCTCGGCTCACTGCAAGCTCCGCCTA CCGGGTTCACGCCACTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGACTAC AGGTACCCACCACCATGCTTGGCTAACTTTTTTTATTTTTAGTAGAGATG GGATTTCACCATGTTAGCCACGATGGTCTCGATCTCATGACCTCGTGATC CACCCGCCTTGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCAC GCCCAGCCAAATGCGTTTTTTTCAACTGCAGTTGGTTCTAGTGTTTATTT GCATTTTGTTTTATTGCAGACCTTCATGGCACTTGAAATCGGGCCTTGAG ACTCCCACCGCAGTGGGTGCTGCGTATGTCACACTCAACACATGATTCTG TTAATTCACCAGCCAAGAGCCATCATGTGGCTGTGGTTGAAGCCCAAGGA CCCTTTAGGTTTACTCTTGCTTCATCTCATGGCCTCCACCTTGACATTGA GGCTGTTGCTGTGGGCGAGTACCTAGTTTATTTCTATGGAGAAATCTGAT CAAACAGCATCTTGAGTTTGACAGCAAACAAGAAAAACCATAGGGTCAGT GACATTTAAAGGAGTCCCATGGAAGCCATGATTGGGATAAGTGAAGACTG AAGAAAAACAAATGGGGGTTATTTTTCTAAGTGGGTTTTCAATAAGTAAT TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGCAGGTGTGCACTCTTTTG GGTCTTTTGCGTGTGTTAAATTTTTATTTTTTGCAATTTTTATTTTAGGT TCAAATACTACATGCACAGGTTTGTTACATGGGTAAATTGTTTATTTATT TAATTATTATTATTATTATTATTTGAGATGGAGTCTCACTCTGTTGCCCA GGCTAGAGTGCAGTGGCAC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RPH3AL_chr17_207389_357807	303485	A A	AAGGCTGT others(890): Show AAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGG AAAGAGATGGGGAGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGA GCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTG AGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGG AGGGAGGAAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTG TCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAA TTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGC TGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGA GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAAGTT TTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	133	0.0075	897	c.351 others(916): Show c.351+15934_351+15935insCCCTCCCTCCCCACCTCTTTCCTGAG ACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCC TCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACC TCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTG CTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTT TCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCT CCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTAT TAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCTTTCCTGAGACACG GTCACTGCCCAATAATTATTAAAACTTCAGTACAGCCTCCCTCCCTCCCC ATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGT ACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAA TAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTG AGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTC CCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAA CCTCAGTACAGCCTTCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCAC TGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTC TTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGC CTTCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATT ATTAAAACCTCAGTACAGCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304067	A A	AGCAGTGA others(890): Show AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTC AGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATG GGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACC GTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAA TAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGA GGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAA AGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	133	0.0075	897	c.351 others(916): Show c.351+15352_351+15353insCCAATAATTATTAAAACCTCAGTACA GCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAA TTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGA CACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCT CCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCT CAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304093	A A	ATGGGGAG others(890): Show ATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTG ACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGTTT TAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAG GGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAG GAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTG AGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACT GAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGG GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGAAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGG AGGGAGGCTGTACTGAGGTTTTAATAATTATTGGGCAGTGACCGTGTCTC AGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTAT TGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTA CTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	133	0.0075	897	c.351 others(916): Show c.351+15326_351+15327insCCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCCCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA CCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTTCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCACCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(890): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGC CTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	133	0.0075	897	c.-33 others(908): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTC GCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGG CGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGT GTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGC GCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTG TGGAGGCGACTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
RPH3AL_chr17_207389_357807	355859	A A	ACTAACAG others(890): Show ACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAAAGACA TCTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGC GACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACC ACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAA CAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTC ACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCG CGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACT TGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTC GTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCAC CACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTA ACAGACGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGACGTCTT CACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACC GCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACAC TTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGT CGTCTTCACAGGCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAG GCGACCGCGCACCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCA CCACACTTGCTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0020 a0003c0012t0005g0020	1	133	0.0075	897	c.-33 others(908): Show c.-3361_-3360insCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACT GTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTG TGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGGT CGCCTGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAG ACGACTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAG CAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTGTGGTG CGCGGTCGCCTGTGAAGACGTCTGTTAGCAAGTGTGGTGCGCGGTCGCCT GTGAAGACGTCTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGAC TGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGT GTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGG TCGCCTGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAA GACGACTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTA GCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTGTGGT GCGCGGTCGCCTGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGGTCGCC TGTGAAGACGACTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGA CTGTTAGCAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGCAAG TGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCG GTCGCCTGTGAAGATGTCTTTTAGTAAGTGTGGTGCGCGGTCGCCTGTGA AGACGACTGTTAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3053		chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(890): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCC TTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCT CCACCATCATCCTCACCATCTCCACCATCACCCTCGCCATCCTTTCTCCA TCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATC ATCCTCACCATCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCC ACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCTCGC CATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCAC CACCTCCACCATCATCCTCACCATCTCCACCATCACCCTCGCCATCCTTT CTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCA CCATCATCCTCACCATCTCCACCATCACCCTCACCATCCTTCCTCCATCA CCTCCACCATCCACCCTCACCATCCTTCATCACCCCCACCATCACCCTCA CCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCA TCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATC ACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATC TTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0109 a0001c0009t0001g0109	1	244	0.0041	897	c.193 others(916): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGT GATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGT GGTGAAGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGC GAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG AGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGA TGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(890): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG04115.hp2 HG03834.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	897	c.-74 others(906): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCT CAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCT TCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(890): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	897	c.-74 others(906): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCT CAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCT TCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(890): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCC CCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCC CACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAA GCATCACTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCA TCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATC ACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCAC TCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATCACTCCA ACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAAC CCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTC CCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTCCAACCCTCC CCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0047 a0002c0002t0007g0047	1	280	0.0036	897	c.89- others(910): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGGGGGGGGTAGAATGAGGAGA GTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGG GGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGG AGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGGGC TGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGG AGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAAGC AATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTA TGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTG TGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGG GGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA ATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(890): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	324	0.0031	897	c.115 others(914): Show c.115-2573_115-2572insGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(890): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATCTTATAAAATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18981.hp2 NA19000.hp2 others(1): Show NA18968.hp1 NA18981.hp2 NA19000.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0005g0143 others(1): Show a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0005g0143 a0001c0001t0005g0144	4	340	0.0118	897	c.17 others(916): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAAGATATATTATATATTATAAAATATAATATAT TATATTTTATAATATATATAAAATATAATATATTATATATTATAAAATAT AATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATCTTATATAATATAAAATATAATATA TTATATATTATAAAATATATTATATTTTATAATATATAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATTTTATAA AATATAATATATTATATTTTATATATATTATAAAATATAATATATTATAT ATTATAATATGTAATATATATTATATATTATAATATATAATATATATTAT ATATTATAATATGTAATATATATTATATATTATAATATATAATATATATT ATATATTATAATATATAATATATATTATATATTATAAAATATAATATATA TTACATATTATAAAATATAATATATTATATATTATAAAATATAATATATA TTACATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAATATATAATATATTAT ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(890): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATATTATATATTATAATATAT AATATATATTACATATTATAATATATAATATATTATATTTTATAATATAT ATAAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATATATATTATAAAATATAATATATTATATTTTATAATATATAATAT ATTTTATAAAATATAATATATTATATTTTATAATATATAATATATCTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0333 a0001c0001t0002g0333	1	340	0.0029	897	c.17 others(916): Show c.174+9760_*174+9761insAAGATATATTATATATTATAAAATAT AATATATTATATTTTATAAAATATATTATATATTATAAAATATAATATAT TATATTTTATAATATATATAAAATATAATATATTATATATTATAAAATAT AATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATCTTATATAATATAAAATATAATATA TTATATATTATAAAATATATTATATTTTATAATATATAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATTTTATAA AATATAATATATTATATTTTATATATATTATAAAATATAATATATTATAT ATTATAATATGTAATATATATTATATATTATAATATATAATATATATTAT ATATTATAATATGTAATATATATTATATATTATAATATATAATATATATT ATATATTATAATATATAATATATATTATATATTATAAAATATAATATATA TTACATATTATAAAATATAATATATTATATATTATAAAATATAATATATA TTACATATTATAAAATATAATATATTATATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAATATATAATATATTAT ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501124	T T	TTATATTA others(890): Show TTATATTATAATATATAATATATATTATATATTATAATATATAATATATA TTATATATTATAATATATAATATATTATATATTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATGTAATATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATGTAATATATATTATATTTTATAATATATAATATATATT ATATATTATAATATATAATATATATTATATATTATAATATATAATATATA TTACATATTATAATATATAATATATATTATATATTATAATATATAATATA TATTACATATTATAATATATAATATATTATATTTTATAATATATATAAAA TATAATATATTATATTTTATAAAATATAATATATTATATTTTATAATATA TAATATATTATATTTTATAATATATAATATATTATATTTTATAATATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTTTATAATATATAATATATTATATTTTATATTATATAAGATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATAATATATAATATATTATATTTTATAATATATAATATATTATATTTTA TAATATATAATATATTATATTTTATAATATATAATATATTATATTTTATA TATATTATAAAATATAATATATTATATTTTATAATATATAATATATCTTA TAAAATATAATATATTATATTTTATAATATATAATATATCTTATAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	340	0.0029	897	c.17 others(916): Show c.174+9754_*174+9755insTTTTATAAGATATATTATATATTATA AAATATAATATATTATATTTTATAAGATATATTATATATTATAAAATATA ATATATTATATTTTATAATATATATAAAATATAATATATTATATATTATA AAATATAATATATTATATATTATAAAATATAATATATTATATATTATAAA ATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAAT ATAATATATTATATATTATAAAATATAATATCTTATATAATATAAAATAT AATATATTATATATTATAAAATATATTATATTTTATAATATATAATATAT TATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTA TATTTTATAATATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATT TTATAAAATATAATATATTATATTTTATATATATTATAAAATATAATATA TTATATATTATAATATGTAATATATATTATATATTATAATATATAATATA TATTATATATTATAATATGTAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTATATATTATAAAATATAA TATATATTACATATTATAAAATATAATATATTATATATTATAAAATATAA TATATATTACATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAATATATAATA TATTATATATTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(890): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAA AGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	322	0.0031	897	c.597 others(914): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCT TTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCC TTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCT CCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCEA3_chr1_23375909_23429748	23392445	A A	AATACACA others(890): Show AATACACACACACTCCACACATCATACACACACACTCCACACATCATACA CACACACACACTCCACACATCGTACACACACACATTCCACACATCATACA CACACTCCACACACTATACACACCATACACACATTCCTTACATCATACGC ACCACACACACTCCACACATCATACACACACACATACTCCACACTTCATA CACACACACTCCACACATCATACACACACACTCCACACATCATACACAAT ACACACATACTCCACACATCATACACACTGCACACACACTCCACACATCA TACACACCACACACACTCCACACATCATACACACACTCCATACATCACAC ACTCCACACATCACACACTCCACACATCATACACACATACTCCATAAATC ATACACAATACACACACACTGCACACATCATACACACCACAAACACTCCA CACATCAGACAACACACTCCACACATCATACACAATACATACATACTCCA CACATCATACACAGTGCACACACACTCCACACATCATACACAGACACTCC ACACGTCATACACAAACACACTCCACACATCATACACACACACACTCCAC ACATCATACACACACTCCATACATTATACTCACCACACATACTCCACACA TCATACACACACTCCATACATTATACTCACCACACATACTCCACACATCA TACACACACACTCCACACATCATACACAATACACACACACTCCACACATC ATACACACCCACTCCACACATCATACACACACACACACTCCACACATCAT ACACACACACGCACTCCACACATCATACACACACACGCACTCCACACATC ATACACACATACACACACTCCACACCTCATACACATACTCCATACATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG03195.hp2 HG01884.hp2 HG02572.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0171 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0002g0171 a0001c0001t0003g0173 a0001c0001t0003g0182	3	378	0.0079	897	c.819 others(914): Show c.819+1433_819+1434insGATGTATGGAGTATGTGTATGAGGTGTG GAGTGTGTGTATGTGTGTATGATGTGTGGAGTGCGTGTGTGTGTATGATG TGTGGAGTGCGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTGTGTATGA TGTGTGGAGTGGGTGTGTATGATGTGTGGAGTGTGTGTGTATTGTGTATG ATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTATGTGTGGTGAGTATAA TGTATGGAGTGTGTGTATGATGTGTGGAGTATGTGTGGTGAGTATAATGT ATGGAGTGTGTGTATGATGTGTGGAGTGTGTGTGTGTATGATGTGTGGAG TGTGTTTGTGTATGACGTGTGGAGTGTCTGTGTATGATGTGTGGAGTGTG TGTGCACTGTGTATGATGTGTGGAGTATGTATGTATTGTGTATGATGTGT GGAGTGTGTTGTCTGATGTGTGGAGTGTTTGTGGTGTGTATGATGTGTGC AGTGTGTGTGTATTGTGTATGATTTATGGAGTATGTGTGTATGATGTGTG GAGTGTGTGATGTGTGGAGTGTGTGATGTATGGAGTGTGTGTATGATGTG TGGAGTGTGTGTGGTGTGTATGATGTGTGGAGTGTGTGTGCAGTGTGTAT GATGTGTGGAGTATGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTA TGATGTGTGGAGTGTGTGTGTATGAAGTGTGGAGTATGTGTGTGTGTATG ATGTGTGGAGTGTGTGTGGTGCGTATGATGTAAGGAATGTGTGTATGGTG TGTATAGTGTGTGGAGTGTGTGTATGATGTGTGGAATGTGTGTGTGTACG ATGTGTGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGAT GTGTGGAGTGTGTGTGTAT	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TCEA3_chr1_23375909_23429748	23392445	A A	AATACACA others(890): Show AATACACACACACTCCACACATCATACACACACACTCCACACATCATACA CACACACACACTCCACACATCGTACACACACACATTCCACACATCATACA CACACTCCACACACTATACACACCATACACACATTCCTTACATCATACGC ACCACACACACTCCACACATCATACACACACACATACTCCACACTTCATA CACACACACTCCACACATCATACACACACACTCCACACATCATACACAAT ACACACATACTCCACACATCATACACACTGCACACACACTCCACACATCA TACACACCACGCACACTCCACACATCATACACACACTCCATACATCACAC ACTCCACACATCACACACTCCACACATCATACACACATACTCCATAAATC ATACACAATACACACACACTGCACACATCATACACACCACAAACACTCCA CACATCAGACAACACACTCCACACATCATACACAATACATACATACTCCA CACATCATACACAGTGCACACACACTCCACACATCATACACAGACACTCC ACACGTCATACACAAACACACTCCACACATCATACACACACACACTCCAC ACATCATACACACACTCCATACATTATACTCACCACACATACTCCACACA TCATACACACACTCCATACATTATACTCACCACACATACTCCACACATCA TACACACACACTCCACACATCATACACAATACACACACACTCCACACATC ATACACACCCACTCCACACATCATACACACACACACACTCCACACATCAT ACACACACACGCACTCCACACATCATACACACACACGCACTCCACACATC ATACACACATACACACACTCCACACCTCATACACATACTCCATACATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	378	0.0027	897	c.819 others(914): Show c.819+1433_819+1434insGATGTATGGAGTATGTGTATGAGGTGTG GAGTGTGTGTATGTGTGTATGATGTGTGGAGTGCGTGTGTGTGTATGATG TGTGGAGTGCGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTGTGTATGA TGTGTGGAGTGGGTGTGTATGATGTGTGGAGTGTGTGTGTATTGTGTATG ATGTGTGGAGTGTGTGTGTATGATGTGTGGAGTATGTGTGGTGAGTATAA TGTATGGAGTGTGTGTATGATGTGTGGAGTATGTGTGGTGAGTATAATGT ATGGAGTGTGTGTATGATGTGTGGAGTGTGTGTGTGTATGATGTGTGGAG TGTGTTTGTGTATGACGTGTGGAGTGTCTGTGTATGATGTGTGGAGTGTG TGTGCACTGTGTATGATGTGTGGAGTATGTATGTATTGTGTATGATGTGT GGAGTGTGTTGTCTGATGTGTGGAGTGTTTGTGGTGTGTATGATGTGTGC AGTGTGTGTGTATTGTGTATGATTTATGGAGTATGTGTGTATGATGTGTG GAGTGTGTGATGTGTGGAGTGTGTGATGTATGGAGTGTGTGTATGATGTG TGGAGTGTGCGTGGTGTGTATGATGTGTGGAGTGTGTGTGCAGTGTGTAT GATGTGTGGAGTATGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTA TGATGTGTGGAGTGTGTGTGTATGAAGTGTGGAGTATGTGTGTGTGTATG ATGTGTGGAGTGTGTGTGGTGCGTATGATGTAAGGAATGTGTGTATGGTG TGTATAGTGTGTGGAGTGTGTGTATGATGTGTGGAATGTGTGTGTGTACG ATGTGTGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGAT GTGTGGAGTGTGTGTGTAT	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
THAP4_chr2_241579405_241642158	241590826	G G	GCAGAGCT others(890): Show GCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGGGCACTC GGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCT GATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACA CTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGC TCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGATGA TGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGACGATGAGGGGCACT AGGACACGCAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACGCAG AACTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGC TGACGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGACGATGATG GGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCAC TAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0359 a0002c0004t0001g0359	1	390	0.0026	897	c.161 others(916): Show c.1615-6102_1615-6101insAGTGTCCTACTGCCCATCATCATCAG CCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTA GTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGCTCTGAGT GTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCC CATCATCGTCAGCCGGGCAGTTCTGCGTGTCCTAGTGCCCATTATCGTCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCGTCAGCCGGGCAGTT CTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGG GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGC CCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCC TAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATT ATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590826	G G	GCAGAGCT others(890): Show GCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGGGCACTC GGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCT GATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACA CTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGC TCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGATGA TGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGACGATGAGGGGCACT AGGACACGCAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACGCAG AACTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGC TGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATG GGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCAC TAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03139.hp1 others(1): Show HG01891.hp2 HG02451.hp1 HG03139.hp1 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0001 a0002c0006t0001 a0002c0004t0001 a0002c0006t0001	a0002c0004t0001g0157 a0002c0004t0001g0161 a0002c0006t0001g0155 others(1): Show a0002c0004t0001g0157 a0002c0004t0001g0161 a0002c0006t0001g0155 a0002c0006t0001g0156	4	390	0.0103	897	c.161 others(916): Show c.1615-6102_1615-6101insAGTGTCCTACTGCCCATCATCATCAG CCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTA GTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGT GTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCC CATCATCGTCAGCCGGGCAGTTCTGCGTGTCCTAGTGCCCATTATCGTCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCGTCAGCCGGGCAGTT CTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGG GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGC CCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCC TAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATT ATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590826	G G	GCAGAGCT others(890): Show GCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGGGCACTC GGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCT GATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACA CTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGC TCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGATGA TGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGGGGCACT AGGACACACAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACGCAG AACTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGC TGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATG GGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCAC TAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	390	0.0026	897	c.161 others(916): Show c.1615-6102_1615-6101insAGTGTCCTACTGCCCATCATCATCAG CCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTA GTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGT GTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCC CATCATCGTCAGCCGGGCAGTTCTGCGTGTCCTAGTGCCCATTATCGTCA GCCGAGCAGCTCTGTGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTT CTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGG GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGC CCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCC TAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATT ATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590826	G G	GCAGAGCT others(890): Show GCAGAGCTGCTCGGCTGATGATAATGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATAATGGGCACTC GGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGA GCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCT GATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACA CTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGC TCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGATGA TGAGGGGCACTAGGACACTCAGAACTGCCCGGCTGATGATGAGGGGCACT AGGACACGCAGAGCTGCTCGGCTGACGATAATGGGCACTAGGACACGCAG AACTGCCCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGC TGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATG GGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCAC TAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00642.hp1 others(25): Show HG00423.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp2 HG02004.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02738.hp1 HG02922.hp2 HG02970.hp1 HG03239.hp1 HG03516.hp2 NA18952.hp2 NA18998.hp2 NA19000.hp2 NA19012.hp1 NA19043.hp2 NA19084.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0002c0004t0003 a0001c0002t0001 a0002c0004t0001 a0002c0004t0003	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0201 others(21): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0341 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0166 a0002c0004t0001g0167 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0170 a0002c0004t0001g0171 a0002c0004t0001g0238 a0002c0004t0003g0158 a0002c0004t0003g0159 a0002c0004t0003g0162 a0002c0004t0003g0163	28	390	0.0718	897	c.161 others(916): Show c.1615-6102_1615-6101insAGTGTCCTACTGCCCATCATCATCAG CCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTA GTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGG CAGTTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGT GTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGCC CATCATCGTCAGCCGGGCAGTTCTGCGTGTCCTAGTGCCCATTATCGTCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTT CTGAGTGTCCTAGTGCCCCTCATCATCAGCCGAGCAGTTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGG GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTG TGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGC CCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATTATCGTCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCC TAGTGCCCATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATT ATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
TH_chr11_2158929_2176815	2161576	C C	CCAGACCC others(890): Show CCAGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACAC CCCTGTCCCTGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGA CCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACC CCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCG GGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GGACCCCTGTCCTCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0038 a0001c0009t0001g0038	1	388	0.0026	897	c.26 others(908): Show c.2656_*2657insAGGACAGGGGTCCTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCCAGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGG GGACAGGGGTCTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2352		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1939626	C C	CACACACA others(890): Show CACACACACACATAACATCACCCCCCACAACACACACACACACACACACA AACATCACCGCCCACAACACACACACACACACAAAATCACCCCCCCACAA CACACACACACACATCACTCCCTACAACACACACACACACAAAAACATCA CCCCCCTACAACACACACACACATAACATCACCCCCCACAACACACACAC AATCCCCCAATACACACACACAATCACCCCCACAACACACACAATCACCT CAATACACACACAATCACAACACACACAATCACCCCAACACACACACACA CAATCACCCCAACACACACACAAACATCACCCCCCACAACACACACACAT CACCCCCCACAACACACACACACATAACATCACCCTCCACAACACACAAT CACCCCCACAACACACAATCACCCCAACACACACACAATCACCCCTACAA TACACATACACACACAAACATCACCCACCACAACACACACCAACCCCCAC AACACACACACACACATAACACCCCCACCGCACACACACAATCACCCACA ACACACACAAACACACAAACATCACCCCCCACAACACACACACACATCAC CCCCCACAACACACACACACACCACCCCCAACACACACACACCACCTCCC CAACACACACACACCACCCCCCAACACAGACACATAACATCACCCCCCAA AACACACGCACACATCACCCCCAACACACACACATATCACCCACCACAAC ACACACACACACACAAAATCACCCCCAACACACACACATACCACCCCCAA CACGCACACACACATCACCCCCCACAACACACACACATCACCCCAACACA CACACCTCCCCACAACACACACACACACAGAAACATCACCCCCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	125	0.0080	897	c.11 others(908): Show c.1134_*1135insACACACACACATAACATCACCCCCCACAACACAC ACACACACACACACAAACATCACCGCCCACAACACACACACACACACAAA ATCACCCCCCCACAACACACACACACACATCACTCCCTACAACACACACA CACACAAAAACATCACCCCCCTACAACACACACACACATAACATCACCCC CCACAACACACACACAATCCCCCAATACACACACACAATCACCCCCACAA CACACACAATCACCTCAATACACACACAATCACAACACACACAATCACCC CAACACACACACACACAATCACCCCAACACACACACAAACATCACCCCCC ACAACACACACACATCACCCCCCACAACACACACACACATAACATCACCC TCCACAACACACAATCACCCCCACAACACACAATCACCCCAACACACACA CAATCACCCCTACAATACACATACACACACAAACATCACCCACCACAACA CACACCAACCCCCACAACACACACACACACATAACACCCCCACCGCACAC ACACAATCACCCACAACACACACAAACACACAAACATCACCCCCCACAAC ACACACACACATCACCCCCCACAACACACACACACACCACCCCCAACACA CACACACCACCTCCCCAACACACACACACCACCCCCCAACACAGACACAT AACATCACCCCCCAAAACACACGCACACATCACCCCCAACACACACACAT ATCACCCACCACAACACACACACACACACAAAATCACCCCCAACACACAC ACATACCACCCCCAACACGCACACACACATCACCCCCCACAACACACACA CATCACCCCAACACACACACCTCCCCACAACACACACACACACAGAAACA TCACCCCCCCAAA	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		925		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1939626	C C	CACACACA others(890): Show CACACACACACATAACATCACCCCCCACAACACACACACACACACACACA AACATCACCGCCCACAACACACACACACACACAAAATCACCCCCCCACAA CACACACACACACATCACTCCCTACAACACACACACACACAAAAACATCA CCCCCCTACAACACACACACACATAACATCACCCCCCCACAACACACACA CAATCCCCCAATACACACACACAATCACCCCCACAACACACACAATCACC TCAATACACACACAATCACAACACACACAATCACCCCAACACACACACAC AATCACCCCAACACACACACAAACATCACCCCCCACAACACACACACATC ACCCCCCACAACACACACACACATAACATCACCCTCCACAACACACAATC ACCCCCACAACACACAATCACCCCAACACACACACAATCACCCCTACAAT ACACATACACACACAAACATCACCCACCACAACACACACCAACCCCCACA ACACACACACACACATAACACCCCCACCACACACACACAATCACCCACAA CACACACAAACACACAAACATCACCCCCCACAACACACACACACATCACC CCCCACAACACACACACACACCACCCCCAACACACACACACCACCTCCCC AACACACACACACCACCCCCCAACACAGACACATAACATCACCCCCCAAA ACACACGCACACATCACCCCCAACACACACACATAATATCACCCACCACA ACACACACACACACAAAATCACCCCCAACACACACACATACCACCCCCAA CACGCACACACACATCACCCCCCACAACACACACACATCACCCCAACACA CACACCTCCCCACAACACACACACACACAGAAACATCACCCCCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01346.hp1 HG02630.hp1 others(2): Show HG00642.hp2 HG01346.hp1 HG02630.hp1 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0002 a0001c0001t0001g0088	5	125	0.0400	897	c.11 others(908): Show c.1134_*1135insACACACACACATAACATCACCCCCCACAACACAC ACACACACACACACAAACATCACCGCCCACAACACACACACACACACAAA ATCACCCCCCCACAACACACACACACACATCACTCCCTACAACACACACA CACACAAAAACATCACCCCCCTACAACACACACACACATAACATCACCCC CCCACAACACACACACAATCCCCCAATACACACACACAATCACCCCCACA ACACACACAATCACCTCAATACACACACAATCACAACACACACAATCACC CCAACACACACACACAATCACCCCAACACACACACAAACATCACCCCCCA CAACACACACACATCACCCCCCACAACACACACACACATAACATCACCCT CCACAACACACAATCACCCCCACAACACACAATCACCCCAACACACACAC AATCACCCCTACAATACACATACACACACAAACATCACCCACCACAACAC ACACCAACCCCCACAACACACACACACACATAACACCCCCACCACACACA CACAATCACCCACAACACACACAAACACACAAACATCACCCCCCACAACA CACACACACATCACCCCCCACAACACACACACACACCACCCCCAACACAC ACACACCACCTCCCCAACACACACACACCACCCCCCAACACAGACACATA ACATCACCCCCCAAAACACACGCACACATCACCCCCAACACACACACATA ATATCACCCACCACAACACACACACACACAAAATCACCCCCAACACACAC ACATACCACCCCCAACACGCACACACACATCACCCCCCACAACACACACA CATCACCCCAACACACACACCTCCCCACAACACACACACACACAGAAACA TCACCCCCCCAAA	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		925		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1939626	C C	CACACACA others(890): Show CACACACACACATAACATCACCCCCCACAACACACACACACACACACACA AACATCACCGCCCACAACACACACACACACACAAAATCACCCCCCCACAA CACACACACACACATCACTCCCTACAACACACACACACACAAAAACATCA CCCCCCTACAACACACACACACATAACATCACCCCCCCACAACACACACA CAATCCCCCAATACACACACACAATCACCCCCACAACACACACAATCACC TCAATACACACACAATCACAACACACACAATCACCCCAACACACACACAC AATCACCCCAACACACACACAAACATCACCCCCCACAACACACACACATC ACCCCCCACAACACACACACACATAACATCACCCTCCACAACACACAATC ACCCCCACAACACACAATCACCCCAACACACACACAATCACCCCTACAAT ACACATACACACACAAACATCACCCACCACAACACACACCAACCCCCACA ACACACACACACATAACACCCCCACCACACACACACAATCACCCACAACA CACACAAACACACAAACATCACCCCCCACAACACACACACACATCACCCC CCACAACACACACACACACCACCCCCAACACACACACACCACCTCCCCAA CACACACACACCACCCCCCAACACAGACACATAACATCACCCCCCAAAAC ACACGCACACATCACCCCCAACACACACACATAATATCACCCACCACAAC ACACACACACACACAAAATCACCCCCAACACACACACATACCACCCCCAA CACGCACACACACATCACCCCCCACAACACACACACATCACCCCAACACA CACACCTCCCCACAACACACACACACACAGAAACATCACCCCCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	125	0.0080	897	c.11 others(908): Show c.1134_*1135insACACACACACATAACATCACCCCCCACAACACAC ACACACACACACACAAACATCACCGCCCACAACACACACACACACACAAA ATCACCCCCCCACAACACACACACACACATCACTCCCTACAACACACACA CACACAAAAACATCACCCCCCTACAACACACACACACATAACATCACCCC CCCACAACACACACACAATCCCCCAATACACACACACAATCACCCCCACA ACACACACAATCACCTCAATACACACACAATCACAACACACACAATCACC CCAACACACACACACAATCACCCCAACACACACACAAACATCACCCCCCA CAACACACACACATCACCCCCCACAACACACACACACATAACATCACCCT CCACAACACACAATCACCCCCACAACACACAATCACCCCAACACACACAC AATCACCCCTACAATACACATACACACACAAACATCACCCACCACAACAC ACACCAACCCCCACAACACACACACACATAACACCCCCACCACACACACA CAATCACCCACAACACACACAAACACACAAACATCACCCCCCACAACACA CACACACATCACCCCCCACAACACACACACACACCACCCCCAACACACAC ACACCACCTCCCCAACACACACACACCACCCCCCAACACAGACACATAAC ATCACCCCCCAAAACACACGCACACATCACCCCCAACACACACACATAAT ATCACCCACCACAACACACACACACACACAAAATCACCCCCAACACACAC ACATACCACCCCCAACACGCACACACACATCACCCCCCACAACACACACA CATCACCCCAACACACACACCTCCCCACAACACACACACACACAGAAACA TCACCCCCCCAAA	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		925		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1939626	C C	CACACACA others(890): Show CACACACACACATAACATCACCCCCCACAACACACACACACACACACACA CAAACATCACCGCCCACAACACACACACACACACAAAATCACCCCCCCAC AACACACACACACACATCACTCCCTACAACACACACACACACAAAAACAT CACCCCCCTACAACACACACACACACATAACATCACCCCCCCACAACACA CACACAATCCCCCAATACACACACACAATCACCCCCACAACACACACAAT CACCTCAATACACACACAATCACAACACACACAATCACCCCAACACACAC ACACAATCACCCCAACACACACACAAACATCACCCCCCACAACACACACA CATCACCCCCCACAACACACACACACATAACATCACCCTCCACAACACAC AATCACCCCCACAACACACAATCACCCCAACACACACACAATCACCCCAC ATACACATACACCACAAACATCACCACCACAACACACACCAACCCACACA CACACACACACACAACACCCCACCACACACACACAATCACCCACAACACA CACAAACACCAAACACACCCCACAAACACACACACTCCCACACACACCAC ACACAACACACACACACACCACCCCCAACACACACACACCACCTCCCCAA CACACACACACCACCCCCCAACACAGACACATAACATCACCCCCCAAAAC ACACGCACACATCACCCCCAACACACACACATAATATCACCCACCACAAC ACACACACACACACAAAATCACCCCCAACACACACACATACCACCCCCAA CACGCACACACACATCACCCCCCACAACACACACACATCACCCCAACACA CACACCTCCCCACAACACACACACACACAGAAACATCACCCCCCCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	125	0.0080	897	c.11 others(908): Show c.1134_*1135insACACACACACATAACATCACCCCCCACAACACAC ACACACACACACACACAAACATCACCGCCCACAACACACACACACACACA AAATCACCCCCCCACAACACACACACACACATCACTCCCTACAACACACA CACACACAAAAACATCACCCCCCTACAACACACACACACACATAACATCA CCCCCCCACAACACACACACAATCCCCCAATACACACACACAATCACCCC CACAACACACACAATCACCTCAATACACACACAATCACAACACACACAAT CACCCCAACACACACACACAATCACCCCAACACACACACAAACATCACCC CCCACAACACACACACATCACCCCCCACAACACACACACACATAACATCA CCCTCCACAACACACAATCACCCCCACAACACACAATCACCCCAACACAC ACACAATCACCCCACATACACATACACCACAAACATCACCACCACAACAC ACACCAACCCACACACACACACACACACAACACCCCACCACACACACACA ATCACCCACAACACACACAAACACCAAACACACCCCACAAACACACACAC TCCCACACACACCACACACAACACACACACACACCACCCCCAACACACAC ACACCACCTCCCCAACACACACACACCACCCCCCAACACAGACACATAAC ATCACCCCCCAAAACACACGCACACATCACCCCCAACACACACACATAAT ATCACCCACCACAACACACACACACACACAAAATCACCCCCAACACACAC ACATACCACCCCCAACACGCACACACACATCACCCCCCACAACACACACA CATCACCCCAACACACACACCTCCCCACAACACACACACACACAGAAACA TCACCCCCCCAAA	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		925		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(890): Show GGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTG GGGGTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	466	0.0022	897	c.47 others(908): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCT CCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCTTAACCCTGGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCA GCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTAG GCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(890): Show TTATATCATCACATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATGATACTATATCATCATATGAT ATGATACTATATCATCATATGATGATATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATGA TACTATATCATCATATGATATGATACTATATCATCATATGATGATATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATATG ATACTATATCATCATATGATATGATACTATATCATCATATGATGATATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0164 a0001c0017t0006g0164	1	174	0.0058	897	c.41- others(914): Show c.41-49408_41-49407insCATGATGATATACTATTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATATGATACTATAT CATCATATGATATGATACTATATCATCATATGATGATATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATATGATACTATATCATCATATGATATGATACTATATCATCATAT GATGATATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATATGATACTATATCATCATATGATATGATACTATATCATCATA TGATGATATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATATACTATATCATCA	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(890): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0033 a0001c0001t0069g0033	1	174	0.0058	897	c.41- others(914): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(890): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTATGTGGAGGTGTG GTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGT GTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAG TGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGTGT TCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGT AGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGTGT TTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTAGT GTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTGGG TGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGGTA TGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTGTT CGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTA GTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGTGTG TTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTGTGTATGTGGGGGTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	338	0.0030	897	c.36 others(912): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTG TGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGT ATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTA GTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTAT GTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATG TAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTAT GTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATG TAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGG TGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGG TGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGT AGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTA TGTGGGGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTAT GTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTGTATG TGGGGGTGGGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(890): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTATGTGGTGTGTATGTACAGTGCGGGGT GTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTG TGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGG GTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGT GTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGT AGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGT GTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGT GTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTA GTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTG GGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGG TATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG TTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTG TGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGT GGTATGTTTGTGTGGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19012.hp1 NA18961.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0192 a0001c0001t0001g0106 a0001c0001t0001g0192	2	338	0.0059	897	c.36 others(912): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTATGTGGTGTG TATGTACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGT GTGTGTATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGG TGTGTATGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGT GTATGTGGGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTG TAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGT ATGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGT ATGTGGAGGTGTGGTGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTA TGTAGTGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGG GGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGG GTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGG GGTGGGGGTGTGGTGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTAT GTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTG GGGGTGGGGTGTGTTTGTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTG GGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTATGTGGGGG TGGGGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(890): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA TATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTATGTGTGTGTA TGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTG TGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGTGTGTGTA TGCGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTG TGTATGCGTGTGTATGGGTGTGTATATGTGTGTGTATGTGTGTGTATGTG TGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGTGTA TATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATA TGCGTGTGTATGTGTGTGTATGTGTGTGTATATGATGTGTGTGTATATGC GTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATAT GTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	468	0.0021	897	c.-6- others(912): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTGTATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGT ATGTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGT ATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGT GTACGTGTGTGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGT GTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTAT ATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGT ATGTGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATGCGTGTGTATGGGTGTGTATATGTGTGTGTATGT GTGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTAT ATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGT GCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATATGATGTG TGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATG CGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTG TGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(890): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCTCTGTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTGTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCT CCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCT CCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCT CCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCT CCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCT CCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	202	0.0050	897	c.53 others(908): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGG GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGGGGAGGAGACAGGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAG GAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VCX3A_chrX_6528618_6540118	6533146	A A	ACACCTCC others(890): Show ACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCGCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCGCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC TCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCGCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0003 a0017c0021t0003	a0017c0021t0003g0036 a0017c0021t0003g0036	1	74	0.0135	897	c.59 others(906): Show c.598_*599insGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGAGGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		471		chrX	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(890): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCC CGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCA CCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCC CTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19057.hp1 NA18946.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0307 a0001c0001t0002g0279 a0001c0001t0002g0307	2	346	0.0058	897	c.181 others(918): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGC TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGT GCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGG GTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1119319	C C	CCCAGCAT others(891): Show CCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCC CTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAG CGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGT TCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGA GCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTA TCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTC CCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGC GTTATCGCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC TTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTA TCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTCCTCCCAGCGTTAACCCTGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	337	0.0030	898	c.246 others(915): Show c.246+5863_246+5864insAGGAACTCAGGCTCAGGGTTAACGCTGG GAGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATA ACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTC AGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAC TCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTG GGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAG GCTCAGGGATAACGCTGGGAAGAACTCAGGCTCAGGGATAACGCTGGGAG GAACTCAGGCTCAGCGATAACGCTGGGGAGAACTCAGGCTCAGGGATAAC GCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCA GGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGCTCAGGCAATAACGCTG GGAGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGAT AACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGC TCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGG AACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACG CTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAG GGATAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTC GGGTTCAGGGATAATGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(891): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATATTTTATATA TAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTA TATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGTAT GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTAT AGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACT GTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0009 a0002c0020t0009	a0002c0020t0009g0129 a0002c0020t0009g0129	1	182	0.0055	898	c.505 others(917): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGTACATACTA TATATAAAATATATAGTACATACTATATATAAAATATATAGAGTACATAC TATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(891): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGAC GGTGATGATGGTGATGGTGATGATGGTGGTGATGAGGATGATGATGGTGA TGATGATGATGGTGATGATGAGGATGATGATGGTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGGTGATGATGATGATGGTGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGAT GATGATGGTGGTGATGATGTGATGGTGATGGTGATGATGGTGATGATGAT GATGATGGTGATGATGGTGATGATGATGATGGTGATGGTGATGATGGTGA TGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTG ATGGTGATGATAAGGATGATGATGATGATGAGGATGATGATGGTGATGAC GATGATGGTGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGA TGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATGGTG ATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAT GATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGA TGGTGATTATGATGATGATGATGATGGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	320	0.0031	898	c.937 others(913): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGATGGTGATGATGATGGTGATGATGAT GGTGATGGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGGTGA TGAGGATGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATG GTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGT GATGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGG TGATGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATG GTGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAG GATGATGATGATGGTGATGATGATGGTGGTGATGATGTGATGGTGATGGT GATGATGGTGATGATGATGATGATGGTGATGATGGTGATGATGATGATGG TGATGGTGATGATGGTGATGGTTATGATGGTGATGGTGATGATGGTGATG ATGAGGATGATGATGGTGATGGTGATGATAAGGATGATGATGATGATGAG GATGATGATGGTGATGACGATGATGGTGATGATGGTGATGACGATGATGG TGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTGATG ATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGAT GGTGATGATGATGGTGATGATGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGATGATGGTGATTATGATGATGATGATGATGGTGATG ATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(891): Show TATATAAATATATATAAATATATAAATATATATAAATATATATAAATATA TAAATATATATAAATATATATAAATATAAAAATATATATAAATATATAAA TATATATAAATATATATGTAAATATATAAATATATATAAATATATATGTA AATATATAAATATATATAAATAAATATATATAAATATATATAAATATAAA TATATATATAAATATGTAATTATAAATATATATGTAAATATATATAAATA TAAATATATTTATAAATATATAAATATAAATATATTTATAAATATATAAA TATAAATATATTTATAAATATATAAATATATATAAAAATATATATAAATA TATAAAAAAATATAAATATATATAAATATATAAATATATGTAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TAACTATACAAATAAATATATATAAATATATAAATATATAAAAATATATA TAAATATATATGTAAATATATAAATATATATATAAATATATATAAATATA TATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATATA TAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATA AATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATATAAATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATA AATATATATAAATATATATAAGTATATATAAATATATATAAATATATATA AATATATGCAAATATATATAAATATATATATAAATAGATATATAAATAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	264	0.0038	898	c.181 others(917): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTT ATATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATAT TTATATATTTATAAATATATTTATATTTATATATATTTACATATATATTT ATAATTACATATTTATATATATATTTATATTTATATATATTTATATATAT TTATTTATATATATTTATATATTTACATATATATTTATATATATTTATAT ATTTACATATATATTTATATATATTTATATATTTATATATATTTTTATAT TTATATATATTTATATATATTTATATATTTATATATATTTATATATATTT ATATATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(891): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCACCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCACCAT CCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCCATGC ATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCTGTCC ATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATCCATCCATT CATCCATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCAT TCATCCACCATCCATCCACCATCCATCCATCCATCCATCCACCATCCATC CATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCAT CCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCCATCCATCCA CCATCCATCCATTAATTCATCCATCCATCCATCCATCCATTCATCCATCC ACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCA TACATCCATCATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCA TTCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATC CATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATC CATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGT CCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCAT CCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0046 a0001c0004t0002g0046	1	272	0.0037	898	c.110 others(915): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCC ATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATC CATCCATGCATCCGTCATCCATCCACCATCCATCCATTCATTCATCCATC CATCTGTCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCAT CCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCA TCCATCCATTCATCCACCATCCATCCACCATCCATCCATCCATCCATCCA CCATCCATCCATCCACCATCCATCCATTCATCCATCCATCTGTCCATCCA TCCATCCATCCGTCCATCCACCATCCATTCACCCATCCATCCATTCATCC ATCCATCCACCATCCATCCATTAATTCATCCATCCATCCATCCATCCATT CATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCC ATCCATTCATACATCCATCATCCTCCCATTCATCCATCCATCCACCATCC ATCCATTCATTCATCCATCCATCCATCCATCCATCCATTCATCCATCCAT CCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCA CCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCA TCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP4F11_chr19_15907377_15939529	15933910	G G	GAATGAGT others(891): Show GAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGA GCGGGCTAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGGCGGGCAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGT GTGAGCGGGCAGAGGAATGAGTGGAGCGGGCAGAGGAATGAGTGAGGCAG GGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAAT GAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGTGGGAGAGGAAT GAGTGAGCGGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAC ATGAGTGAGCGGGGAGAGGAATGAGTGAGTTGGGCAGAGGAATGAGTGAG CGGGCGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAG GAATGAAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTG AGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGGTGAGCGGGGAG AGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGT GAGCGGGCAGAGGAATGAGTGAGCGGGAGAGAGGACATGAGTGAGCGGGC AGAGGAATGAGTGAGCGGGGAGAGGAATGATGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGGAATGAGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGGAGAGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0062 a0002c0001t0062	a0002c0001t0062g0044 a0002c0001t0062g0044	1	386	0.0026	898	c.198 others(913): Show c.198+300_198+301insTCCTCTGCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCTCA TTCCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACATCATTCCTCTC CCCGCTCACTCATTCCTCTGCCCGCTCACTCATGTCCTCTCTCCCGCTCA CTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTC TCCCCGCTCACTCATTCCTCTCCCCGCTCACCTCATTCCTCTGCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCT CACTCATTCCTCTCGCCCGCTCACTCATTCCTCTGCCCAACTCACTCATT CCTCTCCCCGCTCACTCATGTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCCGCTCACTCATTCCTCTCCCACACTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCC CGCTCACTCATTCCTCTCCCTGCCTCACTCATTCCTCTGCCCGCTCCACT CATTCCTCTGCCCGCTCACACTCATTCCTCTGCCCGCTCACTCATTCCTC TCCCCGCTCACTCATTCCTCTGCCCGCCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTAGCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCC TCTGCCCGCTCACTCATT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(891): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGGA GGGAGGGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGG GGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGGGAGGGGCGGGAGGGGAGGGGGAGGGGGGAGGGG GGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGCGGGA GGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGC GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGAGG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGAG GGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGTGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGGGGAGGGGAGGGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAA GGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGGAAGGGG AGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGG GAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0144 a0003c0003t0005g0144	1	216	0.0046	898	c.923 others(917): Show c.923-33077_923-33076insTCCCCTTCCCCTCCGTCTCCCCCTTC CCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCT TCCCCTCCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCCTCCCCCTCCC CTTCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCTTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCC CCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCACTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCTCCCCCT CCCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCTCCCGCCCCTCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCTCCCG CCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTT CCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATT CCTCCCTCCCTCCCTCCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTC CTCCCTCCCTCCCTTCCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	478095	A A	AGGGGAAA others(891): Show AGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAGGGAAGGG AGGGGAAAAGAAGAGGGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAG GGGAAGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAG AGGAGGGGAGGGGAAAAGAAGAGGGGAAGGGAGAGGAGGGGAGGGGAAAA GAAGAGAGGAAGGGAGGGGAGGGGAGGGGAGGAGAGAAGAAGGGAGGGGA AGGGAGAGGGAAGAGAGAAGAAGGAAGAGAGAAGAAGGGAGAGAGAAGAA AGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGGGAAAGGGAGGGGA AGGGAGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGAGAAGGGAAGGGA GGAGAGAAGAAGGGAGGGGAAGGGAGGGGAAGGAAGGGGAAGGGAGGGGA AGGGAAGGGAGGAGAGAAGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA GGAGAGAAGAAGAGAGGGGAAGGGAGGGGAGGAGAGAAGGAGGGAGGAGA GGAGGGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGGGAGGGGAGGGGA GGAGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGAG GGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGG GGAGGGGAGGAGGGAGGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	88	0.0114	898	c.158 others(915): Show c.158-5547_158-5546insCCTCCCCTCCCCTCCCTCCTCCCCTCCC CTCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCC TCCCTCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCCT CCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCC TCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCTCCCCT CCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCCTC CTCCCCTCCCTCCTCCCCTCCTCTCCTCCCTCCTTCTCTCCTCCCCTCCC TTCCCCTCTCTTCTTCTCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCC TTCTTCTCTCCTCCCTTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTCCC TTCCCCTCCCTTCTTCTCTCCTCCCTTCCCTTCTCCTCCCTTCCCTTCTC CTCCCTTCCCCTCTCCTCCCTTCCCCTCCCTTTCCCTCCCTTCTTCTCTC TTCCCTCTCCCTTCCCCTCCTTTCTTCTCTCTCCCTTCTTCTCTCTTCCT TCTTCTCTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCCTCCCCTCCC CTCCCCTCCCTTCCTCTCTTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCT CTTCTTTTCCCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCTTCTTTTCC CCTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCC CTTCCCCTCTTCTTTTCCCCTCCCTTCCCTTCCCCTCTCTTCCCCTCCCT TCCCCTCTCTTCTTTTCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCT others(891): Show ACTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCC AGGGGATCTGTCCTGGGGGGGGTCTGTCCCCGGGGGGTCTGTCCTGGGGG GACTGTCCTGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGT CCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGG GGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGG TCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCT GGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGG GGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTG TCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCC AGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGG TCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCT GTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTG GGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCT GTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCC TGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTG GGGGGTCTGTCCTGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0034 a0034	a0034c0070 a0034c0070	a0034c0070t0001 a0034c0070t0001	a0034c0070t0001g0152 a0034c0070t0001g0152	1	170	0.0059	898	c.101 others(917): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCCGGGGGG TCTGTCCTGGGGGGACTGTCCTGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGGTCTGT CCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGG GGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGG GGTCTGTCCCGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTC CTGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGT CTGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGT CCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGG GGGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGTCTGTCCTGGGGGTTTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
EED_chr11_86239753_86283810	86272059	T T	TTTTTTTT others(891): Show TTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGTGCATGCTGG AGTGCAGTGGTGCAGTCTTAGCTCACTGCAGCCCCCACCTCCTGGGTTCA AGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCC CCACGCCCAGCTTGTATTCTTTAGTAGAGGTGGAGTTTCGCCATGTTGGC TAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTC CCAAATTGTTGGGATTACAGGCGTGAGCCACTGCCCGGCTAGTGAAACTT TTTAATGAGGTCCATTAACTTAATAGTTATAGGGCTGTTCAAATTAACTA CTTCATTTTGGGTCATACTGGGTGAGCTCTAGTGGTTTGTGCTGTTTGAG GAATTGGTACATTCCATCTAAGGTAAAATCTATGTGTACAGAGCTGTTTG TAATATTCCCTCATTATCCTTTCAACATCTGCTAAGTCTATAGTGATAAC CCATTTCTTTCTCTTTTTTTGAGACAGGGTATTACTCTGGCTGTGGTGCA ACTGGCTGTGGTGCTCAGTGCAGCCTCGACTTCCCAAGCAATCTGCCCAC CTCTGCCTCCCGAGTAGCTGGGACTATAGGCGTGGGCCACCATGCCTGGC TAATTAAAAAAAATTTTTTTGTAGAGATGGAGTCTTGCTTTGTTGCCAGG GCTGGTCTCATTTTAGAAATTGGCAGTTTCGTTTTTGAAATTGGCAGTTT AGGTCTTTTTTAGGGTCAGTCTTGCTAGAGGTTTGTGAATTTTATTGATC TTTTCAAAGAACTAGCTTTTTATTGTTTGTTTTCTGTTGTAAATGTTATT GATGTCTTCTCTTTTGTTTGCTGTTGGTTTATTTTTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	392	0.0026	898	c.966 others(915): Show c.966+3514_966+3515insTGAGACAGAGTCTTGCTCTGTTGTGCAT GCTGGAGTGCAGTGGTGCAGTCTTAGCTCACTGCAGCCCCCACCTCCTGG GTTCAAGTGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC GTGCCCCACGCCCAGCTTGTATTCTTTAGTAGAGGTGGAGTTTCGCCATG TTGGCTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTTG GCCTCCCAAATTGTTGGGATTACAGGCGTGAGCCACTGCCCGGCTAGTGA AACTTTTTAATGAGGTCCATTAACTTAATAGTTATAGGGCTGTTCAAATT AACTACTTCATTTTGGGTCATACTGGGTGAGCTCTAGTGGTTTGTGCTGT TTGAGGAATTGGTACATTCCATCTAAGGTAAAATCTATGTGTACAGAGCT GTTTGTAATATTCCCTCATTATCCTTTCAACATCTGCTAAGTCTATAGTG ATAACCCATTTCTTTCTCTTTTTTTGAGACAGGGTATTACTCTGGCTGTG GTGCAACTGGCTGTGGTGCTCAGTGCAGCCTCGACTTCCCAAGCAATCTG CCCACCTCTGCCTCCCGAGTAGCTGGGACTATAGGCGTGGGCCACCATGC CTGGCTAATTAAAAAAAATTTTTTTGTAGAGATGGAGTCTTGCTTTGTTG CCAGGGCTGGTCTCATTTTAGAAATTGGCAGTTTCGTTTTTGAAATTGGC AGTTTAGGTCTTTTTTAGGGTCAGTCTTGCTAGAGGTTTGTGAATTTTAT TGATCTTTTCAAAGAACTAGCTTTTTATTGTTTGTTTTCTGTTGTAAATG TTATTGATGTCTTCTCTTTTGTTTGCTGTTGGTTTATTTTTTTTTCTTTC TTTCTTTTTTTTTTTTTTTT	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EHMT1_chr9_137614005_137841127	137716506	G G	GTGGTGTC others(891): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAATTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAATTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	170	0.0059	898	c.86- others(909): Show c.86-92_86-91insTTGGTGTCATGGTGGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGG GGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(891): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCGA TCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCC TCTACATCCTGCACCCCACCCCAAACGATCCCATAACCCTCTCCATCCCG CACCACCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAAC CGATCCCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAA CCCTCTCCATCCCGCACCCCACCCCAACCGATCCCATAACCCCTCTCCAT CCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCATCCCGCACCAC CCCAACCGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAACCGAT CCCATAACCCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAACCC CTCTCCATCCCGCACCCCACCCCAACCGATCCCATAACCCCTCTCCATCC CGCACCCCACCCCAACCAATCCCATAACCCCTCTCCATCCCACACCCCAC CCCAACTGATCCCATAACCCCTCTCCATCCCGCACCCCACCCCAAACGAT CCCATAACCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCCTC TCCATCCCGCACCCCACCCCAACCGATCCCATAACCCCTCTCCATCCCGC ACCACCCCAACCGATCCCATAACCCCTCTACATCCCGCACCCCACCCCAA ACGATCCCATAACCCTCTCCATCCCGCACCACCCCAACCGATCCCATAAC CCCTCTCCATCCCGCACCACCCCAACCGATCCCATGACCCTCTCCATCCC ACACCCCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	240	0.0042	898	c.109 others(915): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGGGTGTGGGATGGAGAGGGTCATGGGATCGGTTGG GGTGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTGCGGGA TGGAGAGGGTTATGGGATCGTTTGGGGTGGGGTGCGGGATGTAGAGGGGT TATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGGT TGGGGTGGGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTG CGGGATGGAGAGGGTTATGGGATCGTTTGGGGTGGGGTGCGGGATGGAGA GGGGTTATGGGATCAGTTGGGGTGGGGTGTGGGATGGAGAGGGGTTATGG GATTGGTTGGGGTGGGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGG GGTGGGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGT GGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCGGGATGGAGA GGGGTTATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGA TCGTTTGGGGTGGGGTGCGGGATGGAGAGGGGTTATGGGATCGGTTGGGG TGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGGG ATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTT ATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGTTATGGGATCGTTTG GGGTGGGGTGCAGGATGTAGAGGGGTTATGGGATCGGTTGGGGTGGTGCG GGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGGGTGCGGGATGGAGAG GGGTTATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar

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