Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(27): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0121 a0003c0003t0001g0121	1	220	0.0046	34	c.856 others(51): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC138_chr2_108781771_108881578	108854003	T T	TATATATA others(27): Show TATATATAATATATAATAAATTTATATTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0112	1	220	0.0046	34	c.151 others(53): Show c.1517-2780_1517-2747dupTATAATAAATTTATATTATATATAAT ATATAATA	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0293 a0003c0003t0009g0293	1	320	0.0031	34	c.826 others(49): Show c.826-544_826-543insGTATATATATATATATATATATATATATAT ATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0071 a0004c0003t0001g0071	1	264	0.0038	34	c.25+ others(51): Show c.25+23323_25+23324insATATATATATATATATATATATTTTTTT TTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(27): Show TATATATGTGTATATATATACATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp2 HG02976.hp2 others(3): Show HG01496.hp1 HG02647.hp2 HG02976.hp2 HG03195.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0072	6	212	0.0283	34	c.226 others(51): Show c.2260-155_2260-154insGTGTATATATATACATATACATATATAC ATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC152_chr5_42751818_42807439	42755285	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03453.hp1 HG02630.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	2	348	0.0058	34	c.-16 others(45): Show c.-1603_-1602insTGTGTGTGTGTGTGTGTGTATATATATATATATA	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1532		chr5	TogoVar
CCDC15_chr11_124949202_125046489	125024999	C C	CATATATA others(27): Show CATATATATGAATATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	350	0.0029	34	c.241 others(55): Show c.2412-13424_2412-13423insGAATATATATATGAATATATATAT GAATATATAT	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0041 a0004c0004t0003g0041	1	266	0.0038	34	c.822 others(47): Show c.822+63_822+64insGCGCGCGCGCGCACACACACACACACACACAC AC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0036 a0004c0004t0003g0036	1	266	0.0038	34	c.822 others(47): Show c.822+63_822+64insGCGCGCGCGCGCGCACACACACACACACACAC AC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0046 a0010c0011t0003g0046	1	266	0.0038	34	c.822 others(47): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCACACACACACACAC AC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(27): Show GCGCGCGCGCGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	266	0.0038	34	c.822 others(47): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCGCACACACACACAC AC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC175_chr14_59500067_59581812	59508399	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0227 a0002c0002t0001g0228	2	294	0.0068	34	c.230 others(53): Show c.2305+2213_2305+2246dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	19/19			chr14	TogoVar
CCDC191_chr3_113959137_114061526	114006587	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19060.hp2 NA18973.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0336 a0001c0003t0001g0337	2	380	0.0053	34	c.141 others(51): Show c.1414-626_1414-625insATATATATATATATATATATATATATAT ATATAT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	9/16			chr3	TogoVar
CCDC191_chr3_113959137_114061526	114006615	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	380	0.0026	34	c.141 others(51): Show c.1414-654_1414-653insTTATATATATATATATATATATATATAT ATATAT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	9/16			chr3	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18942.hp2 NA18975.hp1 HG03017.hp2 NA18942.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	414	0.0073	34	c.82 others(45): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	364	0.0028	34	c.-23 others(45): Show c.-2327_-2326insAAAAAAAAAAATATATATATATATATATATATAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	34	c.-23 others(45): Show c.-2327_-2326insAAAAATATATATATATATATATATATATATATAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43223459	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02602.hp1 HG02698.hp2 others(12): Show HG01517.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04228.hp2 NA18947.hp1 NA18971.hp1 NA18987.hp1 NA18998.hp2 NA19056.hp1 NA19058.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0048 a0001c0002t0001g0049 others(11): Show a0001c0002t0001g0021 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0069 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0127 a0001c0002t0001g0141 a0001c0002t0001g0142	15	334	0.0449	34	c.480 others(47): Show c.480+96_480+97insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	3/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225680	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	334	0.0030	34	c.106 others(51): Show c.106-1132_106-1131insTATATATATATATATATATATATATATA TATATA	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02683.hp2 HG03654.hp2 others(1): Show HG01981.hp1 HG02683.hp2 HG03654.hp2 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0095 a0001c0002t0001g0096 others(1): Show a0001c0002t0001g0064 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097	4	334	0.0120	34	c.106 others(51): Show c.106-1145_106-1144insTTTTATATATATATATATATATATATAT ATATAT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0006 a0001c0021t0006	a0001c0021t0006g0303 a0001c0021t0006g0303	1	378	0.0027	34	c.116 others(53): Show c.1160-2477_1160-2476insATATATATATATATATTTTTTTTTTT TTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02922.hp1 HG01074.hp2 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0050 a0001c0008 a0001c0050	a0001c0008t0004 a0001c0050t0001 a0001c0008t0004 a0001c0050t0001	a0001c0008t0004g0116 a0001c0050t0001g0193 a0001c0008t0004g0116 a0001c0050t0001g0193	2	378	0.0053	34	c.116 others(53): Show c.1160-2477_1160-2476insATATATATATATATTTTTTTTTTTTT TTTTTTTT	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGTG others(27): Show GGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	372	0.0027	34	c.-40 others(43): Show c.-401_-400insGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGTGTG others(27): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA19012.hp2 HG02074.hp2 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0199 a0002c0002t0002g0297 a0001c0001t0001g0199 a0002c0002t0002g0297	2	372	0.0054	34	c.-40 others(43): Show c.-401_-400insGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC68_chr18_54896509_54964461	54950788	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18970.hp2 NA19064.hp1 HG00621.hp2 NA18970.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0185	3	326	0.0092	34	c.-10 others(53): Show c.-102-5312_-102-5311insTATATATATATATATATATATATATA TATATATA	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	1/11			chr18	TogoVar
CCDC6_chr10_59783747_59911556	59786133	T T	TTATCTTT others(27): Show TTATCTTTAAAGATCAACTTAGGTTTTATTTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0150 a0002c0004t0001g0150	1	288	0.0035	34	c.67 others(45): Show c.6783_*6784insTTGAAAATAAAACCTAAGTTGATCTTTAAAGATA	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding		2613		chr10	TogoVar
CCDC6_chr10_59783747_59911556	59862501	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02647.hp2 HG02165.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0081 a0001c0001t0006g0192 a0001c0001t0002g0081 a0001c0001t0006g0192	2	288	0.0069	34	c.304 others(51): Show c.304-9800_304-9799insTATATATATATATATATATATATATATA TATATA	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	415470	A A	AATAATAT others(27): Show AATAATATGTTGATATTATTAACATAATTATTAAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp1 NA18612.hp2 others(4): Show HG00597.hp1 HG02080.hp1 NA18612.hp2 NA18982.hp2 NA19002.hp1 NA19072.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0086 others(4): Show a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0098 a0001c0001t0004g0102	7	432	0.0162	34	c.271 others(51): Show c.271-3013_271-2980dupGATATTATTAACATAATTATTAACATAA TATGTT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32528698	A A	ATATATAT others(27): Show ATATATATGTATATATACATATATACGTATTTACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(69): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19058.hp2 NA19068.hp2 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0008 a0020 a0001 a0008 a0020	a0001c0002 a0008c0010 a0020c0018 a0001c0002 a0008c0010 a0020c0018	a0001c0002t0001 a0008c0010t0001 a0020c0018t0001 a0001c0002t0001 a0008c0010t0001 a0020c0018t0001	a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(69): Show a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0199 a0008c0010t0001g0129 a0008c0010t0001g0130 a0008c0010t0001g0131 a0008c0010t0001g0132 a0008c0010t0001g0133 a0020c0018t0001g0196	72	368	0.1957	34	c.993 others(53): Show c.993+10227_993+10260dupGTATATATGTATATATACATATATAC GTATTTAC	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32828439	G G	GAAGGAGA others(27): Show GAAGGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp1 HG02738.hp1 others(2): Show HG02040.hp1 HG02145.hp1 HG02738.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0174 others(2): Show a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0174 a0001c0002t0001g0194 a0001c0002t0001g0195	5	368	0.0136	34	c.326 others(53): Show c.3268+3836_3268+3837insAGGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(27): Show GATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0103 a0003c0004t0001g0103	1	368	0.0027	34	c.326 others(53): Show c.3269-4685_3269-4684insCATATATATATATATATATATATATA TATATATA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(27): Show GATATATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG03239.hp1 others(16): Show HG01515.hp2 HG01517.hp1 HG03239.hp1 NA18939.hp2 NA18940.hp1 NA18947.hp1 NA18957.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA19058.hp2 NA19080.hp1 NA19085.hp1 NA19088.hp2 NA20805.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0020c0018 a0001c0002 a0020c0018	a0001c0002t0001 a0020c0018t0001 a0001c0002t0001 a0020c0018t0001	a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 others(16): Show a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0020c0018t0001g0196	19	368	0.0516	34	c.326 others(53): Show c.3269-4683_3269-4682insCATATATATATATATATATATATATA TATATATA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(27): Show GATATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	368	0.0027	34	c.326 others(53): Show c.3269-4681_3269-4680insCATATATATATATATATATATATATA TATATATA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(27): Show GATATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19090.hp2 NA19070.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0068 a0003c0004t0001g0099 a0003c0004t0001g0068 a0003c0004t0001g0099	2	368	0.0054	34	c.326 others(53): Show c.3269-4674_3269-4673insATATATAGATATATATATATATATAT ATATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03688.hp2 HG03834.hp1 others(1): Show HG02895.hp2 HG03688.hp2 HG03834.hp1 HG04115.hp1	a0003 a0005 a0009 a0003 a0005 a0009	a0003c0004 a0005c0009 a0009c0011 a0003c0004 a0005c0009 a0009c0011	a0003c0004t0001 a0005c0009t0003 a0009c0011t0001 a0003c0004t0001 a0005c0009t0003 a0009c0011t0001	a0003c0004t0001g0098 a0003c0004t0001g0101 a0005c0009t0003g0214 others(1): Show a0003c0004t0001g0098 a0003c0004t0001g0101 a0005c0009t0003g0214 a0009c0011t0001g0123	4	368	0.0109	34	c.326 others(53): Show c.3269-4674_3269-4673insATATATATATATATATATATATATAT ATATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830130	A A	ATACATAT others(27): Show ATACATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	368	0.0027	34	c.326 others(53): Show c.3269-4683_3269-4682insCATATATATATATATATATATATATA TATATGTA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC83_chr11_85850383_85925013	85917158	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	334	0.0030	34	c.108 others(51): Show c.1080+926_1080+927insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85917166	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	334	0.0030	34	c.108 others(51): Show c.1080+936_1080+937insGAGAGAGAGAAGGAAAGAAAGAAAGAAA GAAAGA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0135 a0001c0001t0009g0135	1	316	0.0032	34	c.403 others(51): Show c.403-3496_403-3495insAAAAAAAAACAAAAAAAAAAAAAAAAAA AAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19007.hp2 NA20129.hp2 NA19003.hp2 NA19007.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0011 a0001c0005 a0006c0011	a0001c0005t0002 a0006c0011t0006 a0001c0005t0002 a0006c0011t0006	a0001c0005t0002g0181 a0001c0005t0002g0183 a0006c0011t0006g0010 a0001c0005t0002g0181 a0001c0005t0002g0183 a0006c0011t0006g0010	3	316	0.0095	34	c.403 others(51): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88B_chr11_64335204_64362534	64336087	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0069 a0002c0031t0001g0069	1	400	0.0025	34	c.-41 others(45): Show c.-4180_-4179insATATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4116		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336093	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0056 a0030c0050t0001g0056	1	400	0.0025	34	c.-41 others(45): Show c.-4174_-4173insATATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4110		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336095	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0028 a0007c0018t0001g0028	1	400	0.0025	34	c.-41 others(45): Show c.-4172_-4171insATATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4108		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336097	C C	CACATATA others(27): Show CACATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	400	0.0025	34	c.-41 others(45): Show c.-4170_-4169insACATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4106		chr11	TogoVar
CCDC88C_chr14_91266323_91422820	91389869	G G	GAGACCAT others(27): Show GAGACCATCCTGGCTTACACGGTGAAACCCCATCT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0114 a0004c0008t0002g0114	1	284	0.0035	34	c.270 others(53): Show c.270+18789_270+18790insAGATGGGGTTTCACCGTGTAAGCCAG GATGGTCT	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCDC91_chr12_28185456_28555166	28267871	A A	AATTATAT others(27): Show AATTATATATAATTATTATAATTATATATAATTAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0178 a0004c0004t0001g0178	1	242	0.0041	34	c.109 others(51): Show c.109+8466_109+8499dupTATATATAATTATTATAATTATATATAA TTATAT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28362280	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18975.hp1 HG03831.hp1 NA18975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0219 a0003c0003t0001g0241 a0003c0003t0001g0219 a0003c0003t0001g0241	2	242	0.0083	34	c.577 others(49): Show c.577-143_577-142insATATATATATATATATATATATATATATAT ATAT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28394711	G G	GCTCTCTC others(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01515.hp2 HG02280.hp2 others(1): Show HG00323.hp2 HG01515.hp2 HG02280.hp2 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0230 a0003c0003t0001g0237 others(1): Show a0003c0003t0001g0217 a0003c0003t0001g0230 a0003c0003t0001g0237 a0003c0003t0001g0241	4	242	0.0165	34	c.762 others(51): Show c.762+3321_762+3322insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28447785	G G	GGGGAGGG others(27): Show GGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	242	0.0041	34	c.763 others(51): Show c.763-2358_763-2325dupGAGGGGAGGGAGGGGAAGGGAGGGGAGG GGAGGG	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC9B_chr15_40326452_40345939	40333566	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0089 a0001c0001t0044g0089	1	422	0.0024	34	c.15 others(45): Show c.1591_*1592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCDC9B	ENSG00000188549.13	transcript	ENST00000397536.7	protein_coding	11/11	1591		chr15	TogoVar

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