Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(314): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG CGGGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02717.hp1 others(12): Show HG01109.hp1 HG01891.hp2 HG02717.hp1 HG02886.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp1 NA18971.hp2 NA18973.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0001c0001t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0006g0031 a0002c0002t0001g0007	15	394	0.0381	321	c.-44 others(332): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCC GTCGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGC CACAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGC GGGCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCG GTGGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGC CCGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(314): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGACGGGCGCGGGCGG TGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGGCGG CGGGGGCTCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG03516.hp2 HG03579.hp1 HG01934.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0001g0001 a0001c0001t0005g0050 a0001c0001t0005g0054	3	394	0.0076	321	c.-44 others(332): Show c.-4458_-4457insCGCGCCCCCCGCGGAGCCCCCGCCGCCGCCGCCG CCGCCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCC GTCGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGC CACAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGC GGGCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCG GTGGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGC CCGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C19orf67_chr19_14076624_14090783	14090084	C C	CCGGCGGC others(314): Show CCGGCGGCTGTGGCGGCGGCGGCAGCGGCGGCTCCCGGGCGGCGACGGCG GGCGGGGGGGCGCGGCGCGGGCCGGCCGGGGGCGCCACCGCCGGGGGAGC GGCTGGCGCGGGCGGCGGCGCGGCCAGGGGCGCGGCCCGCTGCGCGCGGG GGCCCGGCTGCGCGGGGCCAGGCGAGGGGGGCGCTGTGGCGGCGGCGGCG GCCGCGCGGGGCGCCCGGGCCGGGGCGGCGGCGGCGGCGACGGGCGCGGG CGGTGGCGGCGGGGCGGGCGTGGGCGGCGGCGCGGCGGCGGCGGCGGCGG CGGGGGCCCCGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01952.hp2 HG02273.hp2 others(1): Show HG00544.hp2 HG01952.hp2 HG02273.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	4	394	0.0102	321	c.-44 others(332): Show c.-4458_-4457insCGCGCCCCCCGCGGGGCCCCCGCCGCCGCCGCCG CCGCCGCGCCGCCGCCCACGCCCGCCCCGCCGCCACCGCCCGCGCCCGTC GCCGCCGCCGCCGCCCCGGCCCGGGCGCCCCGCGCGGCCGCCGCCGCCGC CACAGCGCCCCCCTCGCCTGGCCCCGCGCAGCCGGGCCCCCGCGCGCAGC GGGCCGCGCCCCTGGCCGCGCCGCCGCCCGCGCCAGCCGCTCCCCCGGCG GTGGCGCCCCCGGCCGGCCCGCGCCGCGCCCCCCCGCCCGCCGTCGCCGC CCGGGAGCCGCCGCTGCCGCCGCCGCCACAGCCGCCG	C19orf67	ENSG00000188032.10	transcript	ENST00000548523.6	protein_coding		4302		chr19	TogoVar
C1orf87_chr1_59985394_60078770	60004924	G G	GGCAGCTT others(314): Show GGCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	382	0.0026	321	c.119 others(340): Show c.1193-3769_1193-3768insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	9/11			chr1	TogoVar
C2orf16_chr2_27532386_27587722	27539871	A A	ACCCCCCC others(314): Show ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCTC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0193 a0003c0003t0001g0193	1	326	0.0031	321	c.144 others(338): Show c.144+2301_144+2302insCCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGACCCCCCCCCCTCCCCCCGCCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4			chr2	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(314): Show GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0150 a0001c0028t0001g0150	1	370	0.0027	321	c.244 others(340): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(314): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TGTAATATATGATATATTATATATGTAATATGTAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT CATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0001 a0001c0066t0001	a0001c0066t0001g0293 a0001c0066t0001g0293	1	370	0.0027	321	c.244 others(340): Show c.2440+1566_2440+1567insTATATTACATATATAATATATGATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTACATATTACATATATAATATATCATATATTACATATT ACATATATAATATATCATATATTACATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C3_chr19_6672704_6725650	6700560	G G	GATATATT others(314): Show GATATATTATATATGTAATATGTAATATATGATATATTATATATGTAATA TGTAATATATGATATATTATATATGTAATATGTAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTATATATGTAATA TATAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0193 a0001c0009t0001g0193	1	370	0.0027	321	c.244 others(340): Show c.2440+1566_2440+1567insTATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTATATATTACATATATAATATATCATATATTATATATT ACATATATAATATATCATATATTATATATTACATATATAATATATCATAT ATTATATATTACATATATAATATATCATATATTATATATTACATATATAA TATATCATATATTACATATTACATATATAATATATCATATATTACATATT ACATATATAATATATCATATATTACATATTACATATATAATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
CADM1_chr11_115164236_115509415	115212122	T T	TAAGAAAG others(314): Show TAAGAAAGTACAGAGTTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAG TCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0063 a0001c0001t0012g0063	1	164	0.0061	321	c.995 others(338): Show c.995-2466_995-2465insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGAACTCTGTACTTTCTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	7/11			chr11	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(314): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp2 NA18950.hp2 HG03471.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0136 a0001c0001t0118 a0001c0001t0136	a0001c0001t0118g0002 a0001c0001t0136g0002 a0001c0001t0118g0002 a0001c0001t0136g0002	2	402	0.0050	321	c.70 others(332): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CAMK2D_chr4_113446032_113766738	113501291	A A	AGATACAT others(314): Show AGATACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCAGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18963.hp2 NA18969.hp2 others(2): Show NA18947.hp2 NA18963.hp2 NA18969.hp2 NA19009.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0030 a0001c0001t0006 a0001c0001t0030	a0001c0001t0006g0218 a0001c0001t0006g0222 a0001c0001t0006g0261 others(2): Show a0001c0001t0006g0218 a0001c0001t0006g0222 a0001c0001t0006g0261 a0001c0001t0006g0264 a0001c0001t0030g0266	5	278	0.0180	321	c.108 others(338): Show c.1087-781_1087-780insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCTGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGTATC	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	15/20			chr4	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(314): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGA GTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAGGGGGGGCA GGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	340	0.0029	321	c.104 others(340): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCC CTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCC TTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPS_chr19_5909254_5921211	5910815	T T	TTCTTTCT others(314): Show TTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03486.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0001 a0001c0003t0005	a0001c0003t0001g0001 a0001c0003t0005g0001 a0001c0003t0001g0001 a0001c0003t0005g0001	5	396	0.0126	321	c.-35 others(332): Show c.-3517_-3516insTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTTCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	CAPS	ENSG00000105519.18	transcript	ENST00000588776.8	protein_coding		3438		chr19	TogoVar
CASZ1_chr1_10631604_10801646	10783360	T T	TAAGAGTT others(314): Show TAAGAGTTCATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0205 a0001c0004t0001g0205	1	236	0.0042	321	c.-23 others(342): Show c.-234+13203_-234+13204insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GCCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGGAATGAACTCTT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91649661	T T	TAAAAAAA others(314): Show TAAAAAAATTCCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGAATCGCGAGGTCAGGAGATCGAGAGC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGAGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01069.hp1 others(11): Show HG00438.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02004.hp1 HG03486.hp1 HG03654.hp2 NA18974.hp2 NA18988.hp2 NA18990.hp2 NA19001.hp1 NA19043.hp2 NA19079.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0042 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0002g0233 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0110 a0001c0002t0002g0162	14	271	0.0517	321	c.143 others(342): Show c.1432+10175_1432+10176insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGC TCTCGATCTCCTGACCTCGCGATTCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCATGGAATTTTTTT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	15/26			chr14	TogoVar
CCDC170_chr6_151489017_151626193	151611576	T T	TCCCACTT others(314): Show TCCCACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCTATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0262 a0003c0004t0006g0262	1	320	0.0031	321	c.171 others(340): Show c.1711-3857_1711-3856insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCTATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCACTTCTT	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15831809	A A	ACAAAACT others(314): Show ACAAAACTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03453.hp1 HG03516.hp1 others(2): Show HG02155.hp1 HG03453.hp1 HG03516.hp1 HG04199.hp1 NA19081.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0006 a0004c0004 a0006c0006	a0004c0004t0003 a0006c0006t0003 a0004c0004t0003 a0006c0006t0003	a0004c0004t0003g0004 a0004c0004t0003g0031 a0004c0004t0003g0051 others(2): Show a0004c0004t0003g0004 a0004c0004t0003g0031 a0004c0004t0003g0051 a0006c0006t0003g0054 a0006c0006t0003g0055	5	266	0.0188	321	c.326 others(342): Show c.3268-14879_3268-14878insTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGAC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAACTGCCTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC30_chr1_42458286_42662190	42482568	T T	TAATTTAT others(314): Show TAATTTATTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTGTT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 NA19240.hp1 others(1): Show HG02970.hp2 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0012 a0001c0009 a0003c0012	a0001c0009t0017 a0003c0012t0048 a0001c0009t0017 a0003c0012t0048	a0001c0009t0017g0055 a0001c0009t0017g0056 a0001c0009t0017g0057 others(1): Show a0001c0009t0017g0055 a0001c0009t0017g0056 a0001c0009t0017g0057 a0003c0012t0048g0062	4	324	0.0124	321	c.16- others(332): Show c.16-80_16-79insTTTTTTTTTTTTTTTTTTTTTGATACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGCGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTGTT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAATTTATTGGCTTTT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC6_chr10_59783747_59911556	59868919	G G	GCACCTCT others(314): Show GCACCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0144 a0001c0010t0017g0144	1	288	0.0035	321	c.304 others(340): Show c.304-16218_304-16217insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59868919	G G	GCACCTCT others(314): Show GCACCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 NA18522.hp1 HG02717.hp2 HG02965.hp2 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0032 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0032	3	288	0.0104	321	c.304 others(340): Show c.304-16218_304-16217insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGGTG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC91_chr12_28185456_28555166	28264365	T T	TAATAATT others(314): Show TAATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG TGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02132.hp1 HG02280.hp2 others(10): Show HG00280.hp1 HG02132.hp1 HG02280.hp2 HG03491.hp1 HG03492.hp1 NA18957.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp2 NA19062.hp2 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0003t0005 a0003c0008t0001 a0003c0003t0001 a0003c0003t0005 a0003c0008t0001	a0003c0003t0001g0210 a0003c0003t0001g0212 a0003c0003t0001g0213 others(10): Show a0003c0003t0001g0210 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0226 a0003c0003t0001g0228 a0003c0003t0005g0229 a0003c0008t0001g0225	13	242	0.0537	321	c.109 others(338): Show c.109+4936_109+4937insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAATAATTTTTTTT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCSER1_chr4_90122394_91610295	91349791	T T	TAAGATTG others(314): Show TAAGATTGTGTTCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG01884.hp2 others(7): Show HG01099.hp2 HG01243.hp1 HG01884.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp1 NA19240.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0005c0007 a0006c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0003t0002 a0001c0008t0019 a0002c0002t0001 a0005c0007t0012 a0006c0006t0016	a0001c0001t0005g0017 a0001c0001t0007g0007 a0001c0001t0008g0038 others(7): Show a0001c0001t0005g0017 a0001c0001t0007g0007 a0001c0001t0008g0038 a0001c0001t0015g0019 a0001c0003t0002g0015 a0001c0003t0002g0026 a0001c0008t0019g0029 a0002c0002t0001g0006 a0005c0007t0012g0010 a0006c0006t0016g0020	10	38	0.2632	321	c.221 others(344): Show c.2218-248774_2218-248773insTGTTCCCCGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTG	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(314): Show CAAGATTTAGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0015 a0004c0005t0015	a0004c0005t0015g0077 a0004c0005t0015g0077	1	362	0.0028	321	c.287 others(340): Show c.2878+2330_2878+2331insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD276_chr15_73679383_73719514	73690969	T T	TTATGCTT others(314): Show TTATGCTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	384	0.0026	321	c.-55 others(338): Show c.-55+6518_-55+6519insTTTTTTTTTTAATTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATGCTTTT	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CD276_chr15_73679383_73719514	73690969	T T	TTATGCTT others(314): Show TTATGCTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03490.hp2 HG02523.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0232 a0001c0009t0002g0216 a0001c0001t0002g0232 a0001c0009t0002g0216	2	384	0.0052	321	c.-55 others(338): Show c.-55+6518_-55+6519insTTTTTTTTTTTAATTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATGCTTTT	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(314): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCTGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02922.hp1 others(2): Show HG02622.hp1 HG02895.hp1 HG02922.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0078 a0001c0002t0002g0086 a0001c0002t0002g0006 a0001c0002t0002g0078 a0001c0002t0002g0086	5	418	0.0120	321	c.325 others(336): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACACCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCTGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(314): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG01891.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0287 a0001c0002t0002g0047 a0001c0002t0002g0287	2	418	0.0048	321	c.325 others(336): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAATGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(314): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01071.hp1 others(49): Show HG00140.hp1 HG01069.hp2 HG01071.hp1 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02273.hp1 HG02523.hp1 HG02735.hp2 HG02965.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18964.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp1 NA18999.hp1 NA19011.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19080.hp1 NA19086.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0004 a0002c0003t0002 a0001c0002t0002 a0001c0002t0004 a0002c0003t0002	a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0068 others(40): Show a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0068 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0092 a0001c0002t0002g0095 a0001c0002t0002g0103 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0275 a0001c0002t0002g0293 a0001c0002t0004g0116 a0001c0002t0004g0119 a0001c0002t0004g0161 a0001c0002t0004g0166 a0001c0002t0004g0229 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0243 a0002c0003t0002g0001 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0302 a0002c0003t0002g0308 a0002c0003t0002g0311 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0318 a0002c0003t0002g0319 a0002c0003t0002g0320 a0002c0003t0002g0322 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0002g0348 a0002c0003t0002g0349 a0002c0003t0002g0351 a0002c0003t0002g0352	52	418	0.1244	321	c.325 others(336): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDA_chr1_20584097_20623903	20618244	G G	GCACTGTT others(314): Show GCACTGTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCTGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG06807.hp2 others(1): Show HG02145.hp2 HG02818.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0051 a0001c0002t0002g0282 a0001c0002t0002g0292 others(1): Show a0001c0002t0002g0051 a0001c0002t0002g0282 a0001c0002t0002g0292 a0001c0002t0004g0238	4	418	0.0096	321	c.325 others(336): Show c.325-194_325-193insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCTGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACTGTTCAGTTTC	CDA	ENSG00000158825.6	transcript	ENST00000375071.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42BPA_chr1_226984865_227323492	227275239	T T	TAGAAAGC others(314): Show TAGAAAGCAGAGGGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	352	0.0028	321	c.179 others(340): Show c.179-21085_179-21084insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTT TTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCATGCCCTCTGCTTTCT	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	1/36			chr1	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCACCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0023 a0001c0003t0037g0023	1	106	0.0094	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCA CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02647.hp2 others(2): Show HG01255.hp1 HG02145.hp2 HG02647.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0012 others(2): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002 a0004c0019	a0001c0001t0038 a0001c0006t0029 a0001c0012t0001 others(2): Show a0001c0001t0038 a0001c0006t0029 a0001c0012t0001 a0002c0002t0005 a0004c0019t0001	a0001c0001t0038g0092 a0001c0006t0029g0035 a0001c0012t0001g0008 others(2): Show a0001c0001t0038g0092 a0001c0006t0029g0035 a0001c0012t0001g0008 a0002c0002t0005g0022 a0004c0019t0001g0015	5	106	0.0472	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG02451.hp2 others(5): Show HG01106.hp2 HG01243.hp2 HG02451.hp2 HG03209.hp1 HG03209.hp2 HG03704.hp1 HG04115.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0005 a0002c0015	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0007t0046 a0002c0002t0014 a0002c0002t0023 a0002c0005t0030 a0002c0015t0007	a0001c0001t0001g0049 a0001c0001t0009g0019 a0001c0003t0001g0020 others(5): Show a0001c0001t0001g0049 a0001c0001t0009g0019 a0001c0003t0001g0020 a0001c0007t0046g0066 a0002c0002t0014g0062 a0002c0002t0023g0102 a0002c0005t0030g0103 a0002c0015t0007g0025	8	106	0.0755	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0034 a0002c0009t0034	a0002c0009t0034g0009 a0002c0009t0034g0009	1	106	0.0094	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01099.hp1 HG01099.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0026 a0001c0001 a0002c0026	a0001c0001t0002 a0002c0026t0015 a0001c0001t0002 a0002c0026t0015	a0001c0001t0002g0057 a0002c0026t0015g0079 a0001c0001t0002g0057 a0002c0026t0015g0079	2	106	0.0189	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCTTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01496.hp1 others(9): Show HG01109.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp1 HG01978.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 NA18941.hp2 NA18952.hp1 NA18960.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0021 a0002c0002 others(3): Show a0001c0001 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0005c0025	a0001c0001t0002 a0001c0001t0040 a0001c0001t0050 others(7): Show a0001c0001t0002 a0001c0001t0040 a0001c0001t0050 a0001c0021t0008 a0002c0002t0004 a0002c0002t0016 a0002c0004t0027 a0002c0005t0007 a0002c0005t0020 a0005c0025t0011	a0001c0001t0002g0059 a0001c0001t0040g0055 a0001c0001t0050g0063 others(9): Show a0001c0001t0002g0059 a0001c0001t0040g0055 a0001c0001t0050g0063 a0001c0021t0008g0047 a0002c0002t0004g0077 a0002c0002t0016g0073 a0002c0002t0016g0075 a0002c0004t0027g0098 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0020g0056 a0005c0025t0011g0099	12	106	0.1132	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCTTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCT CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCTTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0003 a0001c0011t0008g0003	1	106	0.0094	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCTCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCTTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCTTCC CTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	106	0.0094	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCTCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCTTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(314): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCT CTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCCCC CTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCC CTCCCTCTCTCTCCCTGACCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCC CTCTCTGTCTCCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02622.hp1 HG02647.hp1 others(3): Show HG01255.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG03195.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0004 others(3): Show a0001c0001 a0001c0007 a0002c0004 a0002c0016 a0003c0017 a0003c0018	a0001c0001t0001 a0001c0007t0010 a0002c0004t0033 others(3): Show a0001c0001t0001 a0001c0007t0010 a0002c0004t0033 a0002c0016t0004 a0003c0017t0002 a0003c0018t0045	a0001c0001t0001g0030 a0001c0007t0010g0044 a0002c0004t0033g0095 others(3): Show a0001c0001t0001g0030 a0001c0007t0010g0044 a0002c0004t0033g0095 a0002c0016t0004g0042 a0003c0017t0002g0053 a0003c0018t0045g0052	6	106	0.0566	321	c.169 others(342): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCT CCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCT CTCTCTCCCTGCCCCTCCCTCCCTCTCTCTCCCTGACCTTCCCTCCCTCT CTCCCTGCCCCTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(314): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 NA18944.hp1 HG02280.hp2 HG03130.hp2 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0002 a0001c0006t0059 a0002c0003t0004 a0001c0001t0002 a0001c0006t0059 a0002c0003t0004	a0001c0001t0002g0055 a0001c0006t0059g0179 a0002c0003t0004g0130 a0001c0001t0002g0055 a0001c0006t0059g0179 a0002c0003t0004g0130	3	208	0.0144	321	c.626 others(338): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDHR1_chr10_84189537_84223694	84223487	G G	GTTAATTG others(314): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0027 a0001c0003t0002g0027	1	388	0.0026	321	c.88 others(332): Show c.8866_*8867insTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	CDHR1	ENSG00000148600.15	transcript	ENST00000623527.4	protein_coding		4794		chr10	TogoVar
CDK17_chr12_96273261_96405439	96311584	T T	TGTTAATG others(314): Show TGTTAATGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01069.hp2 others(10): Show HG00423.hp1 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG03098.hp2 HG03471.hp2 HG03831.hp2 NA18939.hp2 NA18992.hp2 NA19012.hp1 NA19062.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 others(10): Show a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0169 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0248 a0001c0001t0018g0186	13	346	0.0376	321	c.418 others(336): Show c.418-408_418-407insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCCATTAAC	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	4/16			chr12	TogoVar
CDK19_chr6_110604978_110820469	110670219	T T	TAAAATTT others(314): Show TAAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02486.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0219 a0001c0001t0012g0066 a0001c0001t0004g0219 a0001c0001t0012g0066	2	300	0.0067	321	c.315 others(336): Show c.315+211_315+212insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	3/12			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(314): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG02145.hp2 others(2): Show HG01192.hp2 HG01515.hp2 HG02145.hp2 HG03130.hp1 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0010 others(1): Show a0001c0001 a0001c0006 a0001c0010 a0002c0003	a0001c0001t0001 a0001c0001t0042 a0001c0006t0003 others(2): Show a0001c0001t0001 a0001c0001t0042 a0001c0006t0003 a0001c0010t0017 a0002c0003t0004	a0001c0001t0001g0018 a0001c0001t0042g0142 a0001c0006t0003g0030 others(2): Show a0001c0001t0001g0018 a0001c0001t0042g0142 a0001c0006t0003g0030 a0001c0010t0017g0194 a0002c0003t0004g0132	5	196	0.0255	321	c.742 others(340): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL2_chr16_80592907_80809598	80663084	T T	TAAAAAAA others(314): Show TAAAAAAATTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0053 a0001c0002t0002g0053	1	258	0.0039	321	c.616 others(340): Show c.616+21453_616+21454insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTTTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(314): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02895.hp1 NA19007.hp2 HG02738.hp2 HG02895.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0020 a0001c0001t0001g0045	3	388	0.0077	321	c.487 others(338): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(314): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0246 a0003c0003t0003g0246	1	358	0.0028	321	c.96+ others(334): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CEP72_chr5_607340_658553	650485	T T	TGTGACTG others(314): Show TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGC GTGGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGA CTGTGAGGTGTGACTGTGAGGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	91	0.0110	321	c.177 others(340): Show c.1779-2500_1779-2499insACTGTGAGGCGTGGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGT GTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTG ACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP44_chr3_113281930_113446493	113328300	A A	ATCTCTTT others(314): Show ATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCTACCGCGCCCGGCCAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	348	0.0029	321	c.411 others(338): Show c.4117-482_4117-481insATGGCCGGGCGCGGTAGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132935809	T T	TGTGATCT others(314): Show TGTGATCTCCTCACTCCCCTCGGCACCCAAACACACTGTGATCTCCTCAC AGCCCTCAGCACCCAAACCCACCGTGATCTCCTCACTCCCCTCATCATCC AAACACACTGAGATCTCCTCACTCCCCTCACATCCAAACACACTGTGATC TCCTCACTCCCCTCGGCACCCAAACACACTGTGATCTCCTCACAGCCCTC AGCACCCAAACACACTGTGATCTCCTCACTCCCCTCACATCCAAACACAC TGTGATCTCCTCACTCCCCTCAGCACCCAAACACACTGAGATCTCCTCAC TCCCCTCACATCCAAACACACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	246	0.0041	321	c.756 others(336): Show c.756-948_756-947insCGTGTGTTTGGATGTGAGGGGAGTGAGGAG ATCTCAGTGTGTTTGGGTGCTGAGGGGAGTGAGGAGATCACAGTGTGTTT GGATGTGAGGGGAGTGAGGAGATCACAGTGTGTTTGGGTGCTGAGGGCTG TGAGGAGATCACAGTGTGTTTGGGTGCCGAGGGGAGTGAGGAGATCACAG TGTGTTTGGATGTGAGGGGAGTGAGGAGATCTCAGTGTGTTTGGATGATG AGGGGAGTGAGGAGATCACGGTGGGTTTGGGTGCTGAGGGCTGTGAGGAG ATCACAGTGTGTTTGGGTGCCGAGGGGAGTGAGGAGATCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar

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