Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTNAP2_chr7_146111801_148425998	147246056	C C	CACATATA others(93): Show CACATATATATGGCATATATATATATACATATATATGGCATATATATATA TACATATATATGGCATATATATATATACATATATATGGCATATATATATA T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	100	c.134 others(121): Show c.1349-54032_1349-54031insTATATATGGCATATATATATATAC ATATATATGGCATATATATATATACATATATATGGCATATATATATATAC ATATATATGGCATATATATATATACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124812071	T T	TTTATATT others(93): Show TTTATATTTATATATTATATAATATATAATTTATATTTATATATTATATA ATATATAATTTATATTTATATATTATATAATATATAATTTATATTTATAT A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0058 a0001c0002t0008g0058	1	64	0.0156	100	c.321 others(121): Show c.3217+13837_3217+13838insTTTATATTTATATATTATATTTAT ATATTATATAATATATAATTTATATTTATATATTATATAATATATAATTT ATATTTATATATTATATAATATATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124812149	A A	AATATATA others(93): Show AATATATAATTTATATTTATATATTATATTTATATATTATATAATATATA ATTTATATTTATATATTATATAATATATAATTTATATTTATATATTATAT T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	64	0.0156	100	c.321 others(121): Show c.3217+13837_3217+13838insTTTATATTTATATATTATATTTAT ATATTATATAATATATAATTTATATTTATATATTATATAATATATAATTT ATATTTATATATTATATTATATATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805328	T T	TATATATA others(93): Show TATATATATATATTTATATATATATATATATTTATATATATATATATATT TATATATATATATATATTTATATATATATATATATTTATATATATATATA A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0046 a0001c0001t0043g0046	1	212	0.0047	100	c.41+ others(117): Show c.41+35827_41+35828insTTATATATATATATAAATATATATATAT ATATAAATATATATATATATATAAATATATATATATATATAAATATATAT ATATATATAAATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COG3_chr13_45459939_45541701	45513422	T T	TATATATA others(93): Show TATATATAATATATACATATAAATTATACATATAATATATACATATAAAT TATATATAATATATACATATAAATTATATATATAATATATACATATAAAT C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0194 a0001c0013t0004g0194	1	342	0.0029	100	c.180 others(119): Show c.1809+1575_1809+1576insATATATACATATAAATTATACATATA ATATATACATATAAATTATATATAATATATACATATAAATTATATATATA ATATATACATATAAATCATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23384349	C C	CTTAGGCC others(93): Show CTTAGGCCTGCAGAGCCCAAATTGCCCAAAAACAGCATTCTGTAATTCCC AACTCTACCCCAAAAGGAAAGGAGGGTTACAGATGCCAGAAGACTATGAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	272	0.0037	100	c.45 others(111): Show c.4570_*4571insTTTCATAGTCTTCTGGCATCTGTAACCCTCCTTT CCTTTTGGGGTAGAGTTGGGAATTACAGAATGCTGTTTTTGGGCAATTTG GGCTCTGCAGGCCTAA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding		4143		chr16	TogoVar
COL13A1_chr10_69796906_69964144	69949958	G G	GTGTGTGC others(93): Show GTGTGTGCGTGTGTGTGTGTGTGTGCATGTGTTTGTGTGTGCGTGTGTGT GTGTGTGTGCATGTGTTTGTGTGTGCGTGTGTGTGTGTGTGTGCATGTGT T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0010 a0003c0013t0010	a0003c0013t0010g0301 a0003c0013t0010g0301	1	324	0.0031	100	c.205 others(119): Show c.2058+2667_2058+2668insGTGTGTGCATGTGTTTGTGTGTGCGT GTGTGTGTGTGTGTGCATGTGTTTGTGTGCGTGTGTGTGTGTGTGTGCAT GTGTTTGTGTGTGCGTGTGTGTGT	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45474706	A A	ATGGACCC others(93): Show ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	292	0.0034	100	c.739 others(115): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45474780	G G	GGGCGTGG others(93): Show GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02683.hp1 HG04228.hp1 others(10): Show HG00544.hp1 HG02683.hp1 HG04228.hp1 NA18944.hp1 NA18964.hp2 NA18969.hp1 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp2 NA19088.hp2 NA20905.hp2	a0003 a0003	a0003c0009 a0003c0010 a0003c0015 others(2): Show a0003c0009 a0003c0010 a0003c0015 a0003c0045 a0003c0047	a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 others(3): Show a0003c0009t0001 a0003c0010t0002 a0003c0010t0006 a0003c0015t0001 a0003c0045t0006 a0003c0047t0001	a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 others(10): Show a0003c0009t0001g0054 a0003c0009t0001g0167 a0003c0009t0001g0171 a0003c0009t0001g0247 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0010t0002g0172 a0003c0010t0006g0014 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0045t0006g0242 a0003c0047t0001g0069	13	292	0.0445	100	c.739 others(115): Show c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC TGGCGGCGTGGGCAGGAGAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921395	C C	CATATATC others(93): Show CATATATCATATATATCATATATATCATATATATCATATCATATACATCA TATATATCATATATATCATATATCATATATATCATATATATCATATATCA T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp2 HG02809.hp1 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0012 a0002c0009t0004 a0002c0004t0012 a0002c0009t0004	a0002c0004t0012g0159 a0002c0009t0004g0128 a0002c0004t0012g0159 a0002c0009t0004g0128	2	182	0.0110	100	c.267 others(117): Show c.267-6492_267-6491insATCATATATATCATATCATATACATCAT ATATATCATATATATCATATATCATATATATCATATATATCATATATCAT ATATATCATATATATCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255903	A A	AGGGGGAA others(93): Show AGGGGGAAGGCAGGAAGGGAGGGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGA G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0047 a0002c0047	a0002c0047t0002 a0002c0047t0002	a0002c0047t0002g0337 a0002c0047t0002g0337	1	344	0.0029	100	c.85- others(117): Show c.85-13170_85-13169insCTCCCTTCCTGCCTTCCCCCCTCCCTTC CTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(93): Show TATATATACATATATGTGTATATATGTGTATATATACATATATACATATA TGTGTATATATACGTATATATACATATATGTGTATATATACGTATATATA C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0104 a0010c0018t0002g0104	1	344	0.0029	100	c.88- others(117): Show c.88-34944_88-34943insACATATATGTGTATATATGTGTATATAT ACATATATACATATATGTGTATATATACGTATATATACATATATGTGTAT ATATACGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203020	T T	TATATACA others(93): Show TATATACATATATGTGTATATATGTGTATATATACATATATATACATATA TGTGTATATATACGTATATATACATATATGTGTATATATACGTATATATA C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	344	0.0029	100	c.88- others(117): Show c.88-34944_88-34943insACATATATGTGTATATATGTGTATATAT ACATATATATACATATATGTGTATATATACGTATATATACATATATGTGT ATATATACGTATATATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45980562	C C	CTGTCTCT others(93): Show CTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCTCTCTCTGTCTCTCTCTGT CTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTGTCCTCTCCTCTCTCT G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	128	0.0078	100	c.-12 others(111): Show c.-1289_-1288insTGTCTCTGTCTCTCCGTCTCTGTCTGTCTCTCTC TCTGTCTCTCTCTGTCTCTGTCTCTCTGTCTCTGTCTTTGTCTCTCTCTG TCCTCTCCTCTCTCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1207		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981676	C C	CCCTCCCC others(93): Show CCCTCCCCTCCCCTCCCTCCCCTCCGCCCCTCCCCTCCCCTCCCGCCCCG TCCCCCTCCCCTCCCCTCCCGCCCCGCCCCTCCCGCCCCCTCCCCTCCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	128	0.0078	100	c.-17 others(109): Show c.-175_-174insCCTCCCCTCCCCTCCCTCCCCTCCGCCCCTCCCCTC CCCTCCCGCCCCGTCCCCCTCCCCTCCCCTCCCGCCCCGCCCCTCCCGCC CCCTCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		93		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCCTCT others(93): Show CTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC T	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	350	0.0029	100	c.510 others(119): Show c.510+24113_510+24114insTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COPE_chr19_18894514_18924387	18902768	G G	GAAAGAAA others(93): Show GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAG AAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19074.hp1 HG03130.hp2 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0134 a0002c0003t0001g0202 a0002c0003t0001g0134 a0002c0003t0001g0202	2	330	0.0061	100	c.735 others(115): Show c.735+499_735+500insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(93): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	330	0.0030	100	c.735 others(115): Show c.735+442_735+443insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPLX1_chr4_779957_831129	825979	G G	GCCGGGGC others(93): Show GCCGGGGCCGGCGGGGAGAAGCGGGGAGAAGCGGGGGCCGGGGAGGAGAC GCCGGGGCCGGCGGGAGAAGCGGGGGAGAAGCCGGGGCCGGGGAGGAGAA A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	416	0.0024	100	c.-80 others(113): Show c.-80+66_-80+67insTTTCTCCTCCCCGGCCCCGGCTTCTCCCCCGC TTCTCCCGCCGGCCCCGGCGTCTCCTCCCCGGCCCCCGCTTCTCCCCGCT TCTCCCCGCCGGCCCCGG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3			chr4	TogoVar
CPNE4_chr3_131528569_132040014	131792623	A A	ATATATAT others(93): Show ATATATATACACACGTGTATATATGTATATATATATACACACGTGTATAT ATGTATATATACACACGTGTATATATGTATATATACACACGTGTATATAT G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG02559.hp2 others(7): Show HG01071.hp1 HG01081.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 NA19007.hp2 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0003	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(7): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0002g0075 a0001c0001t0003g0038 a0001c0001t0008g0066 a0001c0002t0003g0063	10	94	0.1064	100	c.181 others(119): Show c.181-68999_181-68998insCATATATACACGTGTGTATATATACA TATATACACGTGTGTATATATACATATATACACGTGTGTATATATATATA CATATATACACGTGTGTATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588132	G G	GCGTGTCA others(93): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	348	0.0029	100	c.928 others(115): Show c.928-532_928-433dupACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598243	C C	CCCACCCA others(93): Show CCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACC CATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0259 a0001c0007t0006g0259	1	348	0.0029	100	c.16 others(111): Show c.1622_*1623insCCACCCACCCGTCCGTCCATCCATCCCCCCACCC ACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGT CCACTCACCCATCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		998		chr16	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(93): Show TAAATATATATTTATTTATAAATAAATATATATTTATTTATAAATTATAA ATAAATATATTTATTTATAAATTATAAATATATATTTATTTATAAATTAT A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	350	0.0029	100	c.693 others(115): Show c.693+391_693+392insAAATATATATTTATTTATAAATAAATATAT ATTTATTTATAAATTATAAATAAATATATTTATTTATAAATTATAAATAT ATATTTATTTATAAATTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(93): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTTCCCTCCCCTCCCCTCCCCTTTCCTCCCCTCCCCTCCCCTCCCCT T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	288	0.0035	100	c.305 others(115): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGAAAGGG GAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(93): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT TCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCT T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0278 a0012c0029t0001g0278	1	288	0.0035	100	c.305 others(115): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(93): Show ACCCTCCCCTCCCCTCCCCTCCCCTTTCCTCCCCTCCCCTCCCCTCCCCT TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCT C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0014 a0005c0012t0014	a0005c0012t0014g0255 a0005c0012t0014g0255	1	288	0.0035	100	c.305 others(115): Show c.305-917_305-916insGAGGGGAGGGGAGGGGAGGGAAGGGGAGGG GAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGAAAGGG GAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CRACR2A_chr12_3610328_3758109	3739619	C C	CAAAATAT others(93): Show CAAAATATTTATGATCTCTTTATTTAAGAAATACTGGCTGAGCACGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0126 a0006c0006t0001g0126	1	320	0.0031	100	c.-38 others(119): Show c.-386-6509_-386-6410dupTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCATGAGCCACCGTGCTCAGCCAGTATTTCTT AAATAAAGAGATCATAAATATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CSMD1_chr8_2930361_4999914	4595371	T T	TCGATGCA others(93): Show TCGATGCATTCATTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTAT TATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03516.hp2 others(1): Show HG02451.hp1 HG03195.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0085 a0002c0051 a0002c0054 others(1): Show a0001c0085 a0002c0051 a0002c0054 a0017c0106	a0001c0085t0020 a0002c0051t0006 a0002c0054t0079 others(1): Show a0001c0085t0020 a0002c0051t0006 a0002c0054t0079 a0017c0106t0012	a0001c0085t0020g0060 a0002c0051t0006g0081 a0002c0054t0079g0096 others(1): Show a0001c0085t0020g0060 a0002c0051t0006g0081 a0002c0054t0079g0096 a0017c0106t0012g0042	4	126	0.0318	100	c.302 others(119): Show c.302+41970_302+41971insTATGTAACTAACCTGCACAATGTGCA CATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAGAAAAAAAA AAAAAAAAGAAAATGAATGCATCG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967922	C C	CCCAGGCT others(93): Show CCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTC CTCCCTTCTCCCCAGGCTGCCCCGGACCACCCTTCAGTTCTGCAGGTGGG G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18941.hp1 NA18979.hp2 others(3): Show HG04184.hp1 NA18941.hp1 NA18979.hp2 NA18990.hp1 NA19066.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0148	6	382	0.0157	100	c.-26 others(119): Show c.-265-1585_-265-1584insCAGGCTGCCCCCACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCTCCTCCCTTCTCCCCAGGCTGCCCCGGACC ACCCTTCAGTTCTGCAGGTGGGGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CTNND2_chr5_10966836_11909446	11312001	A A	ACACACAC others(93): Show ACACACACACTCACCATACACCTTCACCCCACACACACACTCACACACAC TTCCTATATACACCTCCCACACACACCCACACACTACCCATATATACACC C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp2 HG03471.hp1 others(2): Show HG00738.hp1 HG02647.hp2 HG03471.hp1 HG03471.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0015	5	26	0.1923	100	c.162 others(121): Show c.1628+34370_1628+34371insGGGTGTATATATGGGTAGTGTGTG GGTGTGTGTGGGAGGTGTATATAGGAAGTGTGTGTGAGTGTGTGTGTGGG GTGAAGGTGTATGGTGAGTGTGTGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTSS_chr1_150725188_150770778	150744468	T T	TTTATATA others(93): Show TTTATATATTATATGTATATTATGTATACATAATATTTATATATTATATG TATATTATGTATACATAATATATTATATATGTATATTATGTATACATAAT A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	344	0.0029	100	c.896 others(117): Show c.896+3308_896+3309insTATTATGTATACATAATATACATATATA ATATATTATGTATACATAATATACATATAATATATAAATATTATGTATAC ATAATATACATATAATATATAA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117864725	C C	CATATATT others(93): Show CATATATTCATATATATTCATTCAATATATATTCATATATATTCATTCAA TATATATTCATATATATTCATTCAATATATATTCATATATATTCATTCAA T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG03654.hp1 HG01346.hp2 HG01496.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0025 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0025	3	164	0.0183	100	c.82- others(115): Show c.82-3410_82-3409insATTGAATGAATATATATGAATATATATTGA ATGAATATATATGAATATATATTGAATGAATATATATGAATATATATTGA ATGAATATATATGAATATAT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CUX2_chr12_111029165_111355554	111326227	G G	GTTTATAG others(93): Show GTTTATAGTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATG GGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTT A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	100	0.0100	100	c.292 others(119): Show c.2926+3657_2926+3658insGGTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGTGGTGGGG GAGGGGTGGGTTTATTTATAGTGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWH43_chr4_48981275_49067079	49039337	A A	ATATATAT others(93): Show ATATATATATATTATATATATATATACTGATATATATATATATTATATAT ATATACTGATATATATATATTATATATATATATACTGATATATATATATA T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	296	0.0034	100	c.180 others(119): Show c.1803+1158_1803+1159insATATATATATTATATATATATATACT GATATATATATATATTATATATATATACTGATATATATATATTATATATA TATATACTGATATATATATATATT	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYLC2_chr9_102990333_103023488	103015078	A A	AATATACA others(93): Show AATATACATAACATGTATATCACGTGATATACATAACATGTATATCACGT GATATACATAACATGTATATCACGTGATATACATAACATGTATATCACGT G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0255 a0001c0001t0018g0255	1	448	0.0022	100	c.81 others(119): Show c.817-1774_*817-1675dupCATGTATATCACGTGATATACATAAC ATGTATATCACGTGATATACATAACATGTATATCACGTGATATACATAAC ATGTATATCACGTGATATACATAA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP20A1_chr2_203234018_203311026	203257939	T T	TTGCCTGG others(93): Show TTGCCTGGGCTCAAGTGCAGTGGCACAATTATAGCTCACTGGAGCATCGA ATGCCTGGGCTCAAGTGCAGTGGCACAATTATAGCTCACTGGAGCATCGA A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18961.hp2 NA18965.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0166 a0002c0002t0002 a0002c0002t0003 others(56): Show a0001c0001t0166 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0047 a0002c0002t0050 a0002c0002t0051 a0002c0002t0053 a0002c0002t0055 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0107 a0002c0002t0108 a0002c0002t0109 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0002c0002t0117 a0002c0002t0118 a0002c0002t0119 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0124 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0130 a0002c0002t0132 a0002c0002t0142 a0002c0002t0143 a0002c0002t0147 a0002c0002t0149 a0002c0002t0158 a0002c0002t0162 a0002c0002t0163 a0002c0002t0164 a0002c0002t0165 a0005c0007t0018	a0001c0001t0166g0239 a0002c0002t0002g0193 a0002c0002t0002g0196 others(105): Show a0001c0001t0166g0239 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0234 a0002c0002t0002g0236 a0002c0002t0002g0244 a0002c0002t0002g0279 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0003g0203 a0002c0002t0003g0233 a0002c0002t0003g0253 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0005g0212 a0002c0002t0005g0217 a0002c0002t0005g0232 a0002c0002t0005g0267 a0002c0002t0005g0269 a0002c0002t0005g0276 a0002c0002t0005g0313 a0002c0002t0008g0033 a0002c0002t0008g0195 a0002c0002t0008g0198 a0002c0002t0008g0202 a0002c0002t0008g0250 a0002c0002t0008g0262 a0002c0002t0008g0290 a0002c0002t0013g0192 a0002c0002t0013g0229 a0002c0002t0013g0230 a0002c0002t0013g0231 a0002c0002t0013g0242 a0002c0002t0018g0270 a0002c0002t0018g0275 a0002c0002t0018g0286 a0002c0002t0019g0207 a0002c0002t0019g0226 a0002c0002t0019g0256 a0002c0002t0019g0282 a0002c0002t0039g0248 a0002c0002t0039g0255 a0002c0002t0040g0220 a0002c0002t0040g0287 a0002c0002t0041g0285 a0002c0002t0041g0288 a0002c0002t0042g0200 a0002c0002t0042g0251 a0002c0002t0043g0182 a0002c0002t0043g0183 a0002c0002t0047g0197 a0002c0002t0047g0238 a0002c0002t0050g0190 a0002c0002t0051g0191 a0002c0002t0053g0260 a0002c0002t0055g0273 a0002c0002t0098g0283 a0002c0002t0099g0206 a0002c0002t0100g0281 a0002c0002t0101g0247 a0002c0002t0102g0252 a0002c0002t0103g0254 a0002c0002t0104g0243 a0002c0002t0105g0258 a0002c0002t0106g0245 a0002c0002t0107g0194 a0002c0002t0108g0237 a0002c0002t0109g0199 a0002c0002t0112g0223 a0002c0002t0113g0224 a0002c0002t0114g0225 a0002c0002t0115g0188 a0002c0002t0116g0187 a0002c0002t0117g0221 a0002c0002t0118g0278 a0002c0002t0119g0213 a0002c0002t0120g0209 a0002c0002t0121g0210 a0002c0002t0122g0280 a0002c0002t0123g0289 a0002c0002t0124g0189 a0002c0002t0125g0201 a0002c0002t0126g0284 a0002c0002t0127g0211 a0002c0002t0128g0215 a0002c0002t0130g0216 a0002c0002t0132g0272 a0002c0002t0142g0277 a0002c0002t0143g0204 a0002c0002t0147g0249 a0002c0002t0149g0218 a0002c0002t0158g0214 a0002c0002t0162g0241 a0002c0002t0163g0271 a0002c0002t0164g0246 a0002c0002t0165g0240 a0005c0007t0018g0235	108	334	0.3234	100	c.432 others(117): Show c.432+5881_432+5882insGCCTGGGCTCAAGTGCAGTGGCACAATT ATAGCTCACTGGAGCATCGAATGCCTGGGCTCAAGTGCAGTGGCACAATT ATAGCTCACTGGAGCATCGAAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15912715	G G	GTGTGTGT others(93): Show GTGTGTGTGTGTATATGTATATATGTGTGTGTGTGTGTGTATATATATAT GTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTGTGTATATATATAT A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp2 NA19055.hp1 NA18960.hp2 NA19055.hp1	a0002 a0010 a0002 a0010	a0002c0001 a0010c0019 a0002c0001 a0010c0019	a0002c0001t0163 a0010c0019t0162 a0002c0001t0163 a0010c0019t0162	a0002c0001t0163g0318 a0010c0019t0162g0315 a0002c0001t0163g0318 a0010c0019t0162g0315	2	386	0.0052	100	c.10 others(111): Show c.1016_*1017insTATATATATATACACACACACACACACATATACA TATATACACACACACACATATATATATACACACACACACACACATATATA CATATACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1016		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912715	G G	GTGTGTGT others(93): Show GTGTGTGTGTGTGTGTGTATGTATATATGTGTGTGTGTGTGTGTATATAT ATATGTGTGTGTGTGTGTATATATGTATATGTGTGTGTGTGTATATATAT A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0173 a0002c0001t0173	a0002c0001t0173g0376 a0002c0001t0173g0376	1	386	0.0026	100	c.10 others(111): Show c.1016_*1017insTATATATATACACACACACACATATACATATATA CACACACACACACATATATATATACACACACACACACACATATATACATA CACACACACACACACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	1016		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15912771	G G	GTGTATAT others(93): Show GTGTATATATGTATATGTGTGTGTGTGTGTATATATATATGTGTGTGTGT GTGTATATATGTATATATGTGTGTGTGTGTGTGTGTATGTATGTGTATAT A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0167 a0002c0001t0167	a0002c0001t0167g0379 a0002c0001t0167g0379	1	386	0.0026	100	c.96 others(109): Show c.960_*961insTATATACACATACATACACACACACACACACACATA TATACATATATACACACACACACACATATATATATACACACACACACACA TATACATATATACA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	12/12	960		chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	C C	CAGAGGAA others(93): Show CAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0225 a0001c0002t0008g0225	1	386	0.0026	100	c.199 others(117): Show c.199-1925_199-1924insCCTCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCT CTCCTCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931565	G G	GAGAGGAA others(93): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0111 a0001c0006t0111	a0001c0006t0111g0125 a0001c0006t0111g0125	1	386	0.0026	100	c.199 others(117): Show c.199-1965_199-1964insGCCCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCT CTCCTCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931645	G G	GAGAGGAA others(93): Show GAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0314 a0002c0001t0029g0314	1	386	0.0026	100	c.199 others(117): Show c.199-2045_199-2044insGCCCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTCCTCACTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931703	A A	AGAAGAGG others(93): Show AGAAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0074 a0001c0004t0074	a0001c0004t0074g0048 a0001c0004t0074g0048	1	386	0.0026	100	c.199 others(117): Show c.199-2103_199-2102insCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931725	G G	GAGAGGAA others(93): Show GAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0335 a0001c0002t0008g0335	1	386	0.0026	100	c.199 others(117): Show c.199-2125_199-2124insGCCCACTCACTCATTCCTCTCCTCACTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCACTCATTCCT CTGCCCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931729	G G	GGAATGAG others(93): Show GGAATGAGTGAGCGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGGGGAGA A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0063 a0002c0001t0063	a0002c0001t0063g0030 a0002c0001t0063g0030	1	386	0.0026	100	c.199 others(117): Show c.199-2129_199-2128insTTCTCCCCACTCACTCATTCCTCTCCCC ACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTCAT TCTTCTCCTCGCTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931821	T T	TGGGCAGA others(93): Show TGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0167 a0002c0001t0018g0167	1	386	0.0026	100	c.199 others(117): Show c.199-2221_199-2220insGCTCACTCATTCCTCTGCCCACTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGC CCACTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931861	T T	TGGGCAGA others(93): Show TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0186 a0002c0001t0024g0186	1	386	0.0026	100	c.199 others(117): Show c.199-2261_199-2260insGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931861	T T	TGGGCAGA others(93): Show TGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0143 a0002c0001t0004g0143	1	386	0.0026	100	c.199 others(117): Show c.199-2261_199-2260insGCTCACTCATTCCTCTGCCCACTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931881	T T	TGAGGAGA others(93): Show TGAGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGTGGGCAGAGG AATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18981.hp2 NA18969.hp2 NA18981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0058 a0002c0001t0186 a0002c0001t0058 a0002c0001t0186	a0002c0001t0058g0369 a0002c0001t0186g0359 a0002c0001t0058g0369 a0002c0001t0186g0359	2	386	0.0052	100	c.199 others(117): Show c.199-2281_199-2280insGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGC CCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931923	A A	AGAAGAGG others(93): Show AGAAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01517.hp2 HG00741.hp1 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0037 a0001c0004t0002g0041 a0001c0004t0002g0037 a0001c0004t0002g0041	2	386	0.0052	100	c.198 others(117): Show c.198+2287_198+2288insCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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Search Results (Total: 10000 hits)