Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(468): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02027.hp2 others(2): Show HG01167.hp2 HG01169.hp1 HG02027.hp2 NA19030.hp1 NA19081.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0010 a0003c0003 a0004c0010	a0003c0003t0001 a0003c0003t0021 a0004c0010t0001 a0003c0003t0001 a0003c0003t0021 a0004c0010t0001	a0003c0003t0001g0086 a0003c0003t0001g0262 a0003c0003t0001g0263 others(2): Show a0003c0003t0001g0086 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0021g0264 a0004c0010t0001g0213	5	253	0.0198	475	c.907 others(490): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(468): Show AGGGGGTCCTCACAGGGAGGGGATCCTCACGGGGAGGGGGATCCTCAGGG GGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCC TCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAA GGGGGATCCTCACAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCATG GGGAGAGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCT CAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGGATCCTTGGGGGGAGGGG GATCCTTGGGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAGAGGGA GGGGGGATCCTTGGGGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTTG GGGGGAGGGGGATCCTCACAGGGTGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	5	0.2000	475	c.234 others(496): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGATCCTCA CGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATC CTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGG ATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGG AGGGGGGATCCTCACGGGGAAGGGGGATCCTCACAGGGAGGCGGGTCCTC ACGGGGAGGGGGATCCTCATGGGGAGAGGGATCCTCACGGGGAGGGGGAT CCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGG GGGGATCCTTGGGGGGAGGGGGATCCTTGGGGGGAGGGGGATCCTCACGG GGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGGATCC TTGGGGGGAGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGG G	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC183_chr9_136791338_136812741	136802884	C C	CCCAAGGC others(468): Show CCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp1 HG03017.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0213 a0001c0001t0002g0010 a0001c0001t0002g0213	2	383	0.0052	475	c.666 others(490): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGC others(468): Show GCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	309	0.0032	475	c.666 others(490): Show c.666+495_666+496insCGGGGCCCCCCAGGGCGGGCTCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(468): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	309	0.0032	475	c.666 others(490): Show c.666+495_666+496insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGGGA others(468): Show TGGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	211	0.0047	475	c.303 others(494): Show c.303+24118_303+24119insCCGGCTTTCCTTTCCTTCTCCCGCCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCC CGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(468): Show CACTATATATAGTAGTTATATATACACTATATAATAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTTATATATACTACTATATA TACTACTATATATAGTATATACTATATATACACTATATATACACTATATA TAGCATATATACTATATATACACTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATAGTATATATAGTATATATAAACTATATATACTAT ATATAGTTTATATATAAACTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02809.hp1 others(1): Show HG01891.hp1 HG02572.hp2 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0153 a0001c0003t0001g0271 a0001c0003t0001g0274 others(1): Show a0001c0003t0001g0153 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0347	4	30	0.1333	475	c.349 others(490): Show c.349+948_349+949insTACACTATATAATAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA AACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTTATATATACTACTATATATA CTACTATATATAGTATATACTATATATACACTATATATACACTATATATA GCATATATACTATATATACACTATATATAGTAGTTATATATACTATATAT ACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTA TATATACTATATATAGTATATATAGTATATATAAACTATATATACTATAT ATAGTTTATATATAAACTATATATACTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDK12_chr17_39456486_39539544	39491027	A A	AAGAATAA others(468): Show AAGAATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGTACAATTTC CATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTTAAGAACTCA GCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACCCGCAGGTCT AAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAGATCGATTCC TGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGTAGCTTCACA TACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTCAGAAATGTC CCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATTTCTTAATGG CCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGAATAGGCTGC ACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCTTTTCTTTGT CATCTTGGAGGCACGGACCGGAGACC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	258	0.0039	475	c.210 others(492): Show c.2108+310_2108+311insTTTTTTTTTTTTTTTTTTTTTAAGTACA ATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTTAAGA ACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACCCGCA GGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAGATCG ATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGTAGCT TCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTCAGAA ATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATTTCTT AATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGAATAG GCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCTTTTC TTTGTCATCTTGGAGGCACGGACCGGAGACCAGAATAAAAGCTTTTT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(468): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	8	0.1250	475	c.69 others(486): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCC CTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT3_chr19_54132762_54160681	54133982	T T	TCTCTTCC others(468): Show TCTCTTCCTCCCTCTCCACCTCCCCTCTCCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCTCCCTCT CTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCCTCTCCACCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTC CCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	115	0.0087	475	c.-40 others(486): Show c.-4062_-4061insCTCTTCCTCCCTCTCCACCTCCCCTCTCCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCCTCCCTCTCTCCACCTCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCCTCTCCACCTCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCTCCCTCTCCACCTCCCCTCTCTCTCTTCC TCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3779		chr19	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(468): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0003 a0002c0029t0003	a0002c0029t0003g0213 a0002c0029t0003g0213	1	180	0.0056	475	c.85- others(492): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(468): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGAGGGGGAGAGGAG GGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGAGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0027 a0029c0027	a0029c0027t0003 a0029c0027t0003	a0029c0027t0003g0099 a0029c0027t0003g0099	1	16	0.0625	475	c.416 others(496): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCTCTCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCT C	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(468): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGA GTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTG AGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGT GAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAG GACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACAC CAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAG GGGACCAGGGTGGCTGCGGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	257	0.0039	475	c.348 others(492): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGA CTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACC AGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGG GGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACC AGGGTGGCTGCGGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(468): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGA GTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGGCCAGAGT GAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAG TGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACA CCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGA GGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0287 a0001c0001t0009g0287	1	257	0.0039	475	c.348 others(492): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGGCCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACAC CAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAG GGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAC CAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875298	A A	ACCCGCAC others(468): Show ACCCGCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCGCAC CCGCACCCCCACCCGCACCCGCACCCCCACCCCGACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACACCCACCCCCACCCCCACCCGC ACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCTCACCCCCACCCCCACCCCCACCCTCACCCGCACCCGCACCCCCAC CCTCACCCGCACCCTCACCCTCACCCTCACCCGCACCCGCACCCCCACCC TCACCCCCACCCTCACCCCCACCCTCACCCTCACCCTCACCCGCACCCGC ACCCCCACCCTCACCCGCACCCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0171 a0009c0014t0001g0171	1	317	0.0032	475	c.39 others(486): Show c.3934_*3935insGTGAGGGTGCGGGTGAGGGTGGGGGTGCGGGTGC GGGTGAGGGTGAGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGG GTGCGGGTGCGGGTGAGGGTGAGGGTGAGGGTGCGGGTGAGGGTGGGGGT GCGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTGAGGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGCGGGTGG GGGTGGGGGTGGGTGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTCGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGT GCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2444		chr20	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCTTCC others(468): Show CTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCC TCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG04204.hp2 HG00323.hp1 HG01109.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0139 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0139	3	221	0.0136	475	c.162 others(492): Show c.162-1300_162-1299insTTCCTTCCCTCCCTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTT CCTTCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCT TCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89634844	C C	CCCTTTCC others(468): Show CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCT TTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTCCCTTCCCTTCCCTTCCTTCCTTCCTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCCCTTTCCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	216	0.0046	475	c.105 others(492): Show c.105-1064_105-1063insCCTTTCCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTCCCTTCCCTTCCCTTCCTT CCTTCCTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635025	C C	CCCTTCCT others(468): Show CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCGTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	229	0.0044	475	c.105 others(490): Show c.105-881_105-880insTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCGTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(468): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GTGGGGGGAGGAGCAAATGTGGAGGTGAGGGGAGAAGCAAATGTGGAGGT GCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGG TGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGG AGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCT TGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGAC TGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCATGGAGGTGGGGA GGTTGGAGCAAGTGTGGAGGTGGGGGGATTGGAGCAAATGTGGATGTGCT GCGGGGGAAGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGGTG CTGGGGGGAGGAGCAAGCGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0154 a0002c0004t0003g0154	1	302	0.0033	475	c.49 others(486): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCCACCTCCACGCTTGCTCTTCCCCCGCAGCACATC CACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACC TCCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAAC CTCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCC ACCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTT GCTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCCCACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCAC ATTTGCTTCTCCCCTCACCTCCACATTTGCTCCTCCCCCCACCTCCACGC TTGCTTCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(468): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GTGGGGGGAGGAGCAAATGTGGAGGTGAGGGGAGGAGCAAATGTGGAGGT GCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGG TGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGG AGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCT TGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGAC TGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCATGGAGGTGGGGA GGTTGGAGCAAGTGTGGAGGTGGGGGGATTGGAGCAAATGTGGATGTGCT GCGGGGGAAGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGGTG CTGGGGGGAGGAGCAAGCGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG02083.hp1 others(10): Show HG00544.hp2 HG00621.hp1 HG02083.hp1 HG02135.hp1 NA18612.hp1 NA18944.hp1 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18988.hp1 NA19058.hp1 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0020 a0002c0004 a0002c0009 a0002c0020	a0002c0004t0003 a0002c0009t0003 a0002c0020t0003 a0002c0004t0003 a0002c0009t0003 a0002c0020t0003	a0002c0004t0003g0150 a0002c0004t0003g0155 a0002c0004t0003g0156 others(10): Show a0002c0004t0003g0150 a0002c0004t0003g0155 a0002c0004t0003g0156 a0002c0004t0003g0158 a0002c0004t0003g0160 a0002c0004t0003g0164 a0002c0004t0003g0165 a0002c0004t0003g0168 a0002c0009t0003g0161 a0002c0009t0003g0162 a0002c0009t0003g0170 a0002c0009t0003g0171 a0002c0020t0003g0151	13	314	0.0414	475	c.49 others(486): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCCACCTCCACGCTTGCTCTTCCCCCGCAGCACATC CACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACC TCCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAAC CTCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCC ACCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTT GCTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCCCACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCAC ATTTGCTCCTCCCCTCACCTCCACATTTGCTCCTCCCCCCACCTCCACGC TTGCTTCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
F10_chr13_113117799_113154529	113151454	T T	TGAGCAGC others(468): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAG GAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTG AGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGT CACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGA GAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGG TGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAG AACAGAGGTGAGACCCTGAGGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0164 a0001c0007t0001g0164	1	364	0.0027	475	c.19 others(486): Show c.1937_*1938insGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAA AGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAG GACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGA TTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCG AGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
F10_chr13_113117799_113154529	113151587	A A	AAAGTGAT others(468): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGC AGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18983.hp1 HG02083.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0218 a0001c0002t0001g0110 a0001c0002t0001g0218	2	366	0.0055	475	c.20 others(486): Show c.2070_*2071insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGA CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2059		chr13	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(468): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGC AGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	79	0.0127	475	c.21 others(486): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGA CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGA AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
FHIT_chr3_59742277_61256452	60860565	A A	ATGATATA others(468): Show ATGATATATATGTATCATATATACATATGATGTATGTCATGTATACATAT GATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTA TGTCATGTATACATATGATGTATCTCATGTATACATATGATGTATCTCAT GTATACATATGATGTATCTCATGTATACATATGATGTATCTCATGTATAC ATATGATGTATCTCATGTATACATATGATATATATGATACATATCATATA TGATATATATGATACATATCATATATGATATATATGATACATATCATATA TGATATATATGATACATATCATATATGATATATATGATACATATCATATA TGATATATATGATACATATCATATATGATATATATGATACATATCATATA TGATATATATGATACATATCATATATGATATATATGATACATATCATATA TGATATATATGATACATATCATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	44	0.0227	475	c.-11 others(496): Show c.-110-38555_-110-38554insATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATATGATATGTATCATATATAT CATATATGATATGTATCATATATATCATATGTATACATGAGATACATCAT ATGTATACATGAGATACATCATATGTATACATGAGATACATCATATGTAT ACATGAGATACATCATATGTATACATGAGATACATCATATGTATACATGA CATACATCATATGTATACATGACATACATCATATGTATACATGACATACA TCATATGTATACATGACATACATCATATGTATATATGATACATATATATC A	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
GET4_chr7_871554_901436	890216	G G	GGGTCTGG others(468): Show GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGA GTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGG TGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG GGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGC GAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	347	0.0029	475	c.467 others(490): Show c.467-710_467-709insTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCG AGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGT CTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA GGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTTAG GACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
HCN2_chr19_584881_622159	602101	C C	CCTCTCCT others(468): Show CCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTT CCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 NA18906.hp2 HG01243.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0032 a0001c0001 a0001c0008 a0001c0032	a0001c0001t0004 a0001c0008t0014 a0001c0032t0004 a0001c0001t0004 a0001c0008t0014 a0001c0032t0004	a0001c0001t0004g0229 a0001c0008t0014g0371 a0001c0032t0004g0100 a0001c0001t0004g0229 a0001c0008t0014g0371 a0001c0032t0004g0100	3	337	0.0089	475	c.633 others(492): Show c.633-1323_633-1322insTCCTCCTCTCCTGCGTGGACGCCCCACT TCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HEATR4_chr14_73473484_73563947	73515672	A A	AAAAAAAA others(468): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTCCTGTGAGACTCCAGGGCA GTTTAGCAAAGATGCCCATACAATGCATCTCCTCCAAATGGTCCCCACCA GCTTGGACGTGCTGGGGGACTCAGCCACTCTGCTGAGGCCTCCCTCCTTT CTGGGGTAGGGTGTGTGCAACTAGGAGCTGTGGAACCACCTCTGACAGGC CAGCTCACACTTTGCCATGTGACGCTCCCCGACTTCTCTCAGGCGATTTG AAATCCCTCCTGAAGAGATGAGAAGTAGCTGAATTAACCCCATTTCTCCT ATATCCCTCTGCTCAAGGAGTTAAAATGGATTTGCGGTGAGCAAGTCTTA GATCTCTGATATTTAACCTCATAGGAATAAAAAATACAACTGCCAACTTT TACTTTGGTTCCAGTCCTTTGGGTTATAGCTGGATAGAAACACATCCACT AGCCATCTTCCACATCAACAGTCATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0186 a0001c0003t0004g0186	1	293	0.0034	475	c.121 others(494): Show c.1211-1913_1211-1439dupGATGACTGTTGATGTGGAAGATGGCT AGTGGATGTGTTTCTATCCAGCTATAACCCAAAGGACTGGAACCAAAGTA AAAGTTGGCAGTTGTATTTTTTATTCCTATGAGGTTAAATATCAGAGATC TAAGACTTGCTCACCGCAAATCCATTTTAACTCCTTGAGCAGAGGGATAT AGGAGAAATGGGGTTAATTCAGCTACTTCTCATCTCTTCAGGAGGGATTT CAAATCGCCTGAGAGAAGTCGGGGAGCGTCACATGGCAAAGTGTGAGCTG GCCTGTCAGAGGTGGTTCCACAGCTCCTAGTTGCACACACCCTACCCCAG AAAGGAGGGAGGCCTCAGCAGAGTGGCTGAGTCCCCCAGCACGTCCAAGC TGGTGGGGACCATTTGGAGGAGATGCATTGTATGGGCATCTTTGCTAAAC TGCCCTGGAGTCTCACAGGACTCTTTTTTTTTTTTTTTTTTTTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	5/17			chr14	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCC others(468): Show TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCTTCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCC TTCCTTCCCTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	244	0.0041	475	c.485 others(492): Show c.485+4045_485+4046insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCTTCATTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCT TCCTTCCTTCCTTCATTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCG TCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819151	C C	CCTTCCTT others(468): Show CCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCC TTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCTTCTTCCTTCCTTCCCTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTC CTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCC TCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	348	0.0029	475	c.485 others(492): Show c.485+4061_485+4062insTTCCCTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCTTCCTTCCT TCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCAT TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCTCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(468): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAG GAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA AGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	154	0.0065	475	c.290 others(494): Show c.2908-3810_2908-3809insCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCT TCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(468): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAG GAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0042 a0001c0001t0003g0045	2	155	0.0129	475	c.290 others(494): Show c.2908-3810_2908-3809insCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTC CCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCCTCCCTCCTCCCT TCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
KANK1_chr9_499695_751103	514223	C C	CCTCCCTC others(468): Show CCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCT CCTTCTCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCC TCTCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCTCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCTC TTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0008 a0011c0009t0001g0008	1	231	0.0043	475	c.-84 others(492): Show c.-84+9481_-84+9482insTCCCTCCCTCCCTCCCTCTCTTCCTCCC TCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCT CTTCCTCCCTCTCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCTCTCCCT CCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCTCTCCCTCCCTCC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TAAATATA others(468): Show TAAATATATAAATATATATAAATATATAAATATAAATATATAAATATATA TAAATATATAAATATATACATATATAAATACATGAATATATAAAATATAT AAATATATAAATATATATAAATAAATATATAAATATATACAAATATATAA ATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGAT TTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATT TATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATA TAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAAT ATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTATG TTATATATTATATATTATTATATTATATATATTATAATATGTATTATATT ATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00642.hp1 others(23): Show HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01099.hp1 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02257.hp2 HG02280.hp2 HG02647.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03130.hp2 HG03209.hp2 HG03486.hp2 HG03490.hp2 NA20752.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0030 a0001c0001t0035 a0001c0001t0048 a0001c0001t0058 a0001c0001t0069 a0001c0001t0072 a0001c0002t0062	a0001c0001t0001g0017 a0001c0001t0001g0185 a0001c0001t0001g0334 others(22): Show a0001c0001t0001g0017 a0001c0001t0001g0185 a0001c0001t0001g0334 a0001c0001t0002g0108 a0001c0001t0003g0034 a0001c0001t0006g0005 a0001c0001t0006g0031 a0001c0001t0006g0051 a0001c0001t0006g0057 a0001c0001t0006g0065 a0001c0001t0006g0124 a0001c0001t0009g0035 a0001c0001t0009g0036 a0001c0001t0009g0039 a0001c0001t0012g0325 a0001c0001t0015g0009 a0001c0001t0015g0109 a0001c0001t0015g0110 a0001c0001t0030g0312 a0001c0001t0035g0332 a0001c0001t0048g0350 a0001c0001t0058g0062 a0001c0001t0069g0326 a0001c0001t0072g0009 a0001c0002t0062g0311	26	34	0.7647	475	c.-51 others(486): Show c.-5160_-5159insAAATATATAAATATATATAAATATATAAATATAA ATATATAAATATATATAAATATATAAATATATACATATATAAATACATGA ATATATAAAATATATAAATATATAAATATATATAAATAAATATATAAATA TATACAAATATATAAATAAATATATAAATATATAAATATAAATATATATT TATAGATATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTATA TTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATAT TTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTTAT ATTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATA TTATATATTATTATGTTATATATTATATATTATTATATTATATATATTAT AATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(468): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGTGTATCC ATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGCATGTGT GTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGCATGTGT GTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGTGTTGCACGTG TGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTGTGTGTACGTG TATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATGTGTGTATGTG TATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTGTGTATGTGTG CATGTGTATATATGTCTTACTTGTGTGTATGTGTATGCATGTGTGTACAT GTATGTATACGTGTGTATTTGTGTGTGCATGTGTATGCACGTGTGTGTAT GTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0088 a0001c0001t0050g0088	1	26	0.0385	475	c.946 others(492): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTAAGACATATATACACATGCA CACATACACACATGCATACACATATGCACACACATACACACATGCATACA CATACACACATGCATACACGTGCACATGTAAATACACACGCACAAATACA CGTACACACAGGTATACACATGCACATGTAAATACACACACATATACACA CGTGCAACACAAATACACACAGGTATACACACATGCCCATACATGCACAC ACATGCATACACATGCACACACAAATACATATACGTGTATACACACACAC ACATGCACGCACGTGCATACACATGCACACACAAATATACACACACATGG ATACACATGCACACATATACACACACACACACACACACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(468): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATAAAATATATATTATATATAAAATATATAATATATATAAAATAT ATACTATATATAAAATATATACTATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATACTATATATAAAATATATACTATATA TAAAATATATACTATATATAAAATATATACTATATATAAAATATATATTA TATATAAAATATATACTATATATAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0008	1	203	0.0049	475	c.963 others(494): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATAAAATATATATTATATATAAAATAT ATAATATATATAAAATATATACTATATATAAAATATATACTATATATAAA ATATATACTATATATAAAATATATACTATATATAAAATATATACTATATA TAAAATATATACTATATATAAAATATATACTATATATAAAATATATACTA TATATAAAATATATATTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF25_chr6_167992671_168050091	167997496	A A	ATCTGCAG others(468): Show ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGA GTCTGCAGAGATGGGGGCCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0283 a0001c0001t0024g0283	1	162	0.0062	475	c.-19 others(486): Show c.-1973_-1972insTCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGTCTGCAGAG ATGGGGGGCGGGGGAGTCTGCAGAGATGGGGGCCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		174		chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(468): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	302	0.0033	475	c.507 others(492): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(468): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCACCCACACACCAGCACCGCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 HG02572.hp1 HG03209.hp2	a0016 a0019 a0016 a0019	a0016c0013 a0019c0016 a0016c0013 a0019c0016	a0016c0013t0001 a0019c0016t0001 a0016c0013t0001 a0019c0016t0001	a0016c0013t0001g0131 a0019c0016t0001g0132 a0016c0013t0001g0131 a0019c0016t0001g0132	2	303	0.0066	475	c.507 others(492): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGCGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(468): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0370 a0001c0001t0001g0371	2	303	0.0066	475	c.507 others(492): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(468): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	302	0.0033	475	c.507 others(492): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739088	C C	CCTCATCC others(468): Show CCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTCATCC ATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01975.hp1 others(1): Show HG00438.hp1 HG01169.hp2 HG01975.hp1 NA18998.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0025 a0002c0002 a0023c0025	a0002c0002t0001 a0002c0002t0002 a0023c0025t0002 a0002c0002t0001 a0002c0002t0002 a0023c0025t0002	a0002c0002t0001g0206 a0002c0002t0002g0156 a0002c0002t0002g0164 others(1): Show a0002c0002t0001g0206 a0002c0002t0002g0156 a0002c0002t0002g0164 a0023c0025t0002g0321	4	305	0.0131	475	c.507 others(492): Show c.507-8445_507-8444insATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739111	C C	CCTCATCC others(468): Show CCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCACCTC ATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA TCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCA CACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20129.hp2 HG02886.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0279 a0002c0002t0001g0275 a0002c0002t0001g0279	2	236	0.0085	475	c.507 others(492): Show c.507-8468_507-8467insATGCTGGTGTGTGGATGGATGAGATGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATG GATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGATGA GGTGCTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87739130	A A	AGCACCTC others(468): Show AGCACCTCATCCATCCACACACCAGCATCCCATCCATCCACACACCAGCA CCTCATCCATCCACACACCAGTATCTCATCCACACACCAGCACCTCATCC ATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCC ACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACAC ACCAGCACCTCATCCACCCACACACCAGCACCTCATCCATCCACACACCA GCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCAC CTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCA TCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCA CACACCAGCACCTCATCCATCCACACACCAGCATCTCATCCATCCACACA CCAGCATCTCATCCATCCACACACCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02145.hp2 others(9): Show HG01081.hp1 HG01109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02723.hp2 HG02922.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2	a0005 a0015 a0017 others(3): Show a0005 a0015 a0017 a0018 a0020 a0021	a0005c0005 a0015c0027 a0017c0024 others(3): Show a0005c0005 a0015c0027 a0017c0024 a0018c0028 a0020c0026 a0021c0020	a0005c0005t0001 a0005c0005t0003 a0015c0027t0003 others(4): Show a0005c0005t0001 a0005c0005t0003 a0015c0027t0003 a0017c0024t0001 a0018c0028t0003 a0020c0026t0001 a0021c0020t0001	a0005c0005t0001g0315 a0005c0005t0003g0299 a0005c0005t0003g0301 others(9): Show a0005c0005t0001g0315 a0005c0005t0003g0299 a0005c0005t0003g0301 a0005c0005t0003g0302 a0005c0005t0003g0303 a0005c0005t0003g0316 a0005c0005t0003g0317 a0015c0027t0003g0305 a0017c0024t0001g0138 a0018c0028t0003g0300 a0020c0026t0001g0304 a0021c0020t0001g0021	12	378	0.0317	475	c.507 others(492): Show c.507-8487_507-8486insGGGTGTGTGGATGGATGAGATGCTGGTG TGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG GATGAGATGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGT GCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGT GTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGG ATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGG ATGAGGTGCTGGTGTGTGGATGAGATACTGGTGTGTGGATGGATGAGGTG CTGGTGTGTGGATGGATGGGATGCTGGTGTGTGGATGGATGAGGTGC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCTCCCCC others(468): Show TCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCC TCCCTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCCTCT CCCCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCT CCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCC CCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCC CCTCCCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCC TTCCCCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCT CCTCCCCCTCCCCCTCCTCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTC TCCCCTCCCTCTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	134	0.0075	475	c.121 others(494): Show c.1214-2392_1214-2391insTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTC CCCTCCCCCTCCTCCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCC TCCTCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTC CTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCC CCTCCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCC CTCCCTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTC CCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCC TCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCTCCTCCCC CCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(468): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCCCGGCC TTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTACCCC TGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0096 a0001c0010t0001g0096	1	88	0.0114	475	c.171 others(492): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG GGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGG GGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(468): Show GTATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTACTCTAC ATATTCTATAGAACATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG03540.hp2 HG02257.hp1 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177	3	26	0.1154	475	c.71- others(488): Show c.71-938_71-937insCATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAACATGTAC TCTACATATTCTATAGAACATGTACTCTACATATTCTATAGAA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(468): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02129.hp2 HG04204.hp1 others(5): Show HG01361.hp2 HG02129.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18982.hp1 NA19043.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0157	8	31	0.2581	475	c.71- others(488): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(468): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0167 a0004c0011t0003g0167	1	45	0.0222	475	c.171 others(492): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGA CCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(468): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0051 a0051	a0051c0048 a0051c0048	a0051c0048t0001 a0051c0048t0001	a0051c0048t0001g0008 a0051c0048t0001g0008	1	45	0.0222	475	c.171 others(492): Show c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
METRNL_chr17_83074609_83100122	83090400	C C	CCCCGCCC others(468): Show CCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCA CACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACAC ACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCC AGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACAC ACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACC CCCGCCCCACACACACACACCCCCGCCCCACACACACACACACCCCCGCC CCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACA CACACCCCCCGCCCCACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	387	0.0026	475	c.557 others(492): Show c.557-2764_557-2763insGCCCCACACACACACCCCCCGCCCCACA CACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACA CCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACA CACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCC ACCCCCCGCCCCAGGGTGGGAGCCACACACACACCCCGCCCCACACACAC ACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCC GCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCACA CACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACACACAC ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results