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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
CSMD1_chr8_2930361_4999914	3839434	A A	AATATTAT others(37): Show AATATTATATATTATAATATAATATATTATATATTATAATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(30): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG01074.hp1 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01934.hp1 HG01934.hp2 HG02074.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03540.hp1 HG03669.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18982.hp2 NA19060.hp2 NA19074.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0008 a0011 a0014 a0025 a0027 a0030 a0032 a0037 a0038	a0001c0001 a0001c0003 a0001c0004 others(29): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0020 a0001c0040 a0001c0079 a0001c0081 a0001c0090 a0001c0094 a0001c0108 a0002c0012 a0002c0015 a0002c0030 a0002c0031 a0002c0048 a0002c0051 a0002c0070 a0002c0075 a0002c0092 a0004c0099 a0005c0065 a0005c0107 a0008c0067 a0011c0110 a0014c0010 a0025c0096 a0027c0023 a0030c0052 a0032c0011 a0037c0101 a0038c0066	a0001c0001t0039 a0001c0003t0019 a0001c0004t0020 others(30): Show a0001c0001t0039 a0001c0003t0019 a0001c0004t0020 a0001c0005t0002 a0001c0005t0007 a0001c0020t0016 a0001c0040t0019 a0001c0079t0072 a0001c0081t0037 a0001c0090t0001 a0001c0094t0002 a0001c0108t0054 a0002c0012t0017 a0002c0015t0021 a0002c0030t0016 a0002c0031t0015 a0002c0048t0013 a0002c0051t0006 a0002c0070t0046 a0002c0075t0026 a0002c0092t0001 a0004c0099t0014 a0005c0065t0023 a0005c0107t0068 a0008c0067t0059 a0011c0110t0074 a0014c0010t0070 a0025c0096t0067 a0027c0023t0001 a0030c0052t0049 a0032c0011t0065 a0037c0101t0008 a0038c0066t0010	a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0004t0020g0086 others(30): Show a0001c0001t0039g0017 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0020t0016g0065 a0001c0040t0019g0123 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0108t0054g0074 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0070t0046g0092 a0002c0075t0026g0051 a0002c0092t0001g0011 a0004c0099t0014g0020 a0005c0065t0023g0050 a0005c0107t0068g0073 a0008c0067t0059g0079 a0011c0110t0074g0082 a0014c0010t0070g0084 a0025c0096t0067g0116 a0027c0023t0001g0052 a0030c0052t0049g0098 a0032c0011t0065g0101 a0037c0101t0008g0023 a0038c0066t0010g0032	33	126	0.2619	44	c.819 others(63): Show c.819-85393_819-85392insATTATATTATAATATATAATATATTA TATTATAATATATAATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3839439	T T	TATATATT others(37): Show TATATATTATAATATAATATATTATATATTATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0007 a0001c0073t0007	a0001c0073t0007g0108 a0001c0073t0007g0108	1	126	0.0079	44	c.819 others(63): Show c.819-85398_819-85397insTATATATTATATTATAATATATAATA TATTATATTATAATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3839461	T T	TATATATT others(37): Show TATATATTATAATATAATATATTATATATTATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	44	c.819 others(63): Show c.819-85420_819-85419insTATATATTATATTATAATATATAATA TATTATATTATAATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113153126	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0037 a0001c0021t0004g0037	1	80	0.0125	44	c.709 others(63): Show c.709+20595_709+20596insCTTCCTTCCTTCCTTCCTTCCTTCTT TCTCTTTCTTTCTTTCTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542632	A A	ATGTATAT others(37): Show ATGTATATATATATATACATGTATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	390	0.0026	44	c.230 others(61): Show c.230+7442_230+7443insCATATATATATATATATATACATACATG TATATATATATATACA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277786	T T	TTAATATT others(37): Show TTAATATTGATATATTTAATATATTAATATTGATATATTTAATAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG04199.hp1 HG01069.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0079 a0001c0002t0001g0023 a0001c0002t0001g0079	2	176	0.0114	44	c.182 others(63): Show c.182-18589_182-18546dupTTATTAAATATATCAATATTAATATA TTAAATATATCAATATTA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSRNP3_chr2_165464698_165694407	165466966	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0075 a0001c0001t0083g0075	1	246	0.0041	44	c.-30 others(55): Show c.-3057_-3056insATATATATATATATATATATATATATATATATAT ATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding		2731		chr2	TogoVar
CST8_chr20_23486117_23501010	23490163	T T	TTATATAT others(37): Show TTATATATATATAATATATATATAATTATATATATATTAATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02897.hp2 others(5): Show HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0038	8	440	0.0182	44	c.-13 others(55): Show c.-1323_-1322insTATATATATATAATATATATATAATTATATATAT ATTAATTATA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		953		chr20	TogoVar
CTAG1B_chrX_154612609_154624282	154617026	T T	TCGGCCTC others(37): Show TCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18943.hp1 NA18959.hp1 others(1): Show HG02155.hp1 NA18943.hp1 NA18959.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0002 a0001c0001t0001g0028	4	254	0.0158	44	c.73 others(53): Show c.734_*735insGGTGCGATGGCTCATGCCTGTAATCCCAGCACTTTG GGAGGCCG	CTAG1B	ENSG00000184033.14	transcript	ENST00000328435.3	protein_coding		582		chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80559873	C C	CATATCTA others(37): Show CATATCTATCTATCTATCTATCTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	68	0.0147	44	c.174 others(63): Show c.1741+3984_1741+3985insCTATCTATCTATCTATCTATATATAT ATATATATATATATATAT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80577704	T T	TGTTTTGT others(37): Show TGTTTTGTTTTTTATTTTTGTTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0001 a0001c0011t0001 a0001c0009t0001 a0001c0011t0001	a0001c0009t0001g0003 a0001c0011t0001g0051 a0001c0009t0001g0003 a0001c0011t0001g0051	2	68	0.0294	44	c.189 others(63): Show c.1893+3390_1893+3391insGTTTTGTTTTTTATTTTTGTTTGTTG TTGTTGTTGTTGTTGTTG	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	13/18			chr2	TogoVar
CTNND2_chr5_10966836_11909446	11129021	A A	ATATATAT others(37): Show ATATATATATATATATATTATATATAATATATATTTATATATTAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0002 a0001c0007t0001g0002	1	26	0.0385	44	c.216 others(65): Show c.2160-11455_2160-11454insATAATATATAAATATATATTATAT ATAATATATATATATATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	12/21			chr5	TogoVar
CTSD_chr11_1747755_1768927	1765074	A A	ATATATGT others(37): Show ATATATGTGTATATATATACATGTATATGTGTATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(36): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG01168.hp2 HG01169.hp2 HG01891.hp2 HG01928.hp2 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG03491.hp2 HG03688.hp2 HG04184.hp2 NA18940.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18966.hp1 NA18978.hp1 NA18986.hp2 NA19005.hp1 NA19010.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19075.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0104 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0006t0001g0058	39	386	0.1010	44	c.-12 others(55): Show c.-1216_-1215insCATGTATATATATACACATATACATGTATATATA TACACATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1148		chr11	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(37): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA20300.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0006 a0001c0001t0001g0024	2	100	0.0200	44	c.292 others(63): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCTCCCCC TCTCTCCCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111330700	T T	TATATATA others(37): Show TATATATATACATATATATATATATATATATATACATACATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0004 a0001c0018t0004	a0001c0018t0004g0029 a0001c0018t0004g0029	1	100	0.0100	44	c.292 others(63): Show c.2927-3732_2927-3731insCATATATATATATATATATATATACA TACATATACATATATATA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111330708	T T	TATATATA others(37): Show TATATATATATATACATATACATATATATATATATACACATATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0042 a0001c0014t0001g0042	1	100	0.0100	44	c.292 others(63): Show c.2927-3720_2927-3719insCATATACATATATATATATATACACA TATACATATATATATATA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64796753	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCTTTTCCTTCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01358.hp1 others(1): Show HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0231 a0001c0003t0001g0165 a0001c0003t0001g0166 others(1): Show a0001c0001t0001g0231 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167	4	260	0.0154	44	c.670 others(61): Show c.670-3433_670-3390dupCCTTTTCCTTCTTCCTTCCTTCCTTCTT CCCTCCCTCCCTCCCT	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0299 a0003c0003t0002g0299	1	392	0.0026	44	c.161 others(63): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(37): Show GTGTGTATGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0010 a0005c0005t0002g0010	1	392	0.0026	44	c.161 others(63): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02735.hp1 others(7): Show HG01069.hp1 HG01071.hp2 HG02735.hp1 HG03834.hp2 HG04204.hp1 NA18946.hp2 NA18964.hp1 NA18990.hp2 NA19079.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0067 others(6): Show a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0084 a0002c0002t0001g0107 a0003c0003t0001g0014 a0003c0003t0001g0120 a0003c0003t0001g0124	10	296	0.0338	44	c.180 others(63): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TACTGATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATATATG others(37): Show CATATATGTGTGTATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	44	c.18 others(55): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812368	C C	CATATATG others(37): Show CATATATGTGTGTATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	44	c.20 others(55): Show c.2060_*2061insATATATGTGTGTATATATGTGTATATATATACAT ATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
CYCS_chr7_25113656_25130260	25120842	T T	TGGCCAGG others(37): Show TGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0056 a0001c0001t0043g0056	1	436	0.0023	44	c.28 others(55): Show c.2815_*2858dupTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC ACGCCTGGCC	CYCS	ENSG00000172115.9	transcript	ENST00000305786.7	protein_coding	3/3	2858		chr7	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(37): Show CATACATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0160 a0002c0014t0007g0160	1	342	0.0029	44	c.304 others(61): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963501	T T	TAACATAA others(37): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0265 a0002c0004t0005g0265	1	342	0.0029	44	c.-6- others(61): Show c.-6-16254_-6-16211dupTGTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC1_chrX_83856146_83891698	83878338	T T	TATATAAA others(37): Show TATATAAATATATAAATATATATAAATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03927.hp2 homoSapiens_chm13v2.hp1 HG03491.hp2 HG03927.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0017 a0006c0005t0001g0147 a0006c0005t0001g0152 a0001c0001t0001g0017 a0006c0005t0001g0147 a0006c0005t0001g0152	3	208	0.0144	44	c.192 others(63): Show c.1923+3710_1923+3711insTAAATATATAAATATATATAAATATA TATAAATATATATAAATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(37): Show ATATATGTATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02735.hp2 HG03491.hp2 others(6): Show HG01074.hp2 HG02735.hp2 HG03491.hp2 HG04115.hp2 HG04228.hp1 NA18945.hp2 NA18953.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0081 a0001c0001t0003g0094 others(5): Show a0001c0001t0003g0002 a0001c0001t0003g0081 a0001c0001t0003g0094 a0001c0001t0003g0104 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0123	9	374	0.0241	44	c.-40 others(55): Show c.-4027_-4026insTATATGTATATATATATATATATACGTGTGTGTA TATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(37): Show ATATATGTATATATATATATATATATACGTGTGTGTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	374	0.0027	44	c.-40 others(55): Show c.-4027_-4026insTATATGTATATATATATATATATATACGTGTGTG TATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(37): Show ATATATGTATATATATATATATATATATGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19083.hp2 NA18965.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0118 a0001c0001t0003g0071 a0001c0001t0003g0118	2	374	0.0054	44	c.-40 others(55): Show c.-4027_-4026insTATATGTATATATATATATATATATATGTGTGTA TATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATGTAT others(37): Show ATATGTATATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA19006.hp2 NA18982.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0117 a0001c0001t0003g0006 a0001c0001t0003g0117	2	374	0.0054	44	c.-40 others(55): Show c.-4027_-4026insTATGTATATATATATATATATATACGTGTGTGTA TATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG01069.hp2 others(9): Show HG00597.hp2 HG00642.hp1 HG01069.hp2 HG01516.hp1 HG02004.hp2 HG02523.hp1 HG03017.hp2 HG03704.hp1 NA18940.hp1 NA18944.hp2 NA18972.hp2 NA18991.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0005c0003t0004	a0001c0001t0001g0041 a0001c0001t0001g0143 a0001c0001t0001g0159 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0002g0035 a0001c0001t0002g0084 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0005g0177 a0001c0001t0005g0178 a0005c0003t0004g0061	12	382	0.0314	44	c.491 others(59): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944842	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	382	0.0026	44	c.491 others(59): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATGTATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP39A1_chr6_46544580_46657818	46616242	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	310	0.0032	44	c.931 others(61): Show c.931+9175_931+9176insAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGG	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11			chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15932452	A A	ATGAGTGA others(37): Show ATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0033 a0002c0001t0033	a0002c0001t0033g0016 a0002c0001t0033g0016	1	386	0.0026	44	c.198 others(61): Show c.198+1758_198+1759insCTCATTCCTCTCCTCACTCACTCATTCC TCTCCTCACTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64643088	T T	TATATATA others(37): Show TATATATATACACATATATATACATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(71): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG02004.hp1 HG02055.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18978.hp1 NA18988.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19075.hp2 NA19079.hp2 NA19088.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0058 a0001c0001t0067 a0002c0002t0013 a0004c0004t0004	a0001c0001t0003g0216 a0001c0001t0004g0036 a0001c0001t0004g0141 others(71): Show a0001c0001t0003g0216 a0001c0001t0004g0036 a0001c0001t0004g0141 a0001c0001t0004g0149 a0001c0001t0004g0157 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0221 a0001c0001t0005g0029 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0199 a0001c0001t0006g0113 a0001c0001t0006g0134 a0001c0001t0006g0213 a0001c0001t0006g0217 a0001c0001t0006g0243 a0001c0001t0006g0252 a0001c0001t0007g0097 a0001c0001t0007g0171 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0242 a0001c0001t0010g0198 a0001c0001t0010g0208 a0001c0001t0010g0227 a0001c0001t0010g0229 a0001c0001t0010g0232 a0001c0001t0010g0238 a0001c0001t0010g0241 a0001c0001t0010g0251 a0001c0001t0011g0231 a0001c0001t0011g0233 a0001c0001t0011g0239 a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0011g0248 a0001c0001t0013g0052 a0001c0001t0013g0160 a0001c0001t0013g0203 a0001c0001t0013g0214 a0001c0001t0015g0209 a0001c0001t0015g0234 a0001c0001t0015g0235 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0025g0100 a0001c0001t0025g0195 a0001c0001t0027g0165 a0001c0001t0027g0167 a0001c0001t0030g0218 a0001c0001t0036g0101 a0001c0001t0037g0222 a0001c0001t0044g0201 a0001c0001t0045g0250 a0001c0001t0046g0019 a0001c0001t0047g0249 a0001c0001t0053g0190 a0001c0001t0054g0120 a0001c0001t0058g0099 a0001c0001t0067g0257 a0002c0002t0013g0013 a0004c0004t0004g0188	74	258	0.2868	44	c.123 others(63): Show c.123-18550_123-18549insGTATATATATGTGTATATATATGTAT ATATATGTGTATATATAT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG02523.hp1 others(12): Show HG00140.hp1 HG00621.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02738.hp1 HG02738.hp2 NA18906.hp2 NA18951.hp1 NA18978.hp2 NA18980.hp2 NA18995.hp1 NA19060.hp2 NA19082.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0024	a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 others(12): Show a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0004g0008 a0001c0001t0008g0244 a0001c0001t0024g0099	15	288	0.0521	44	c.-13 others(65): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	288	0.0035	44	c.-13 others(65): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
DAB1_chr1_56989778_57429060	57367109	A A	AAAATAAA others(37): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	138	0.0073	44	c.-13 others(65): Show c.-137+56820_-137+56821insATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14			chr1	TogoVar
DAGLA_chr11_61675391_61752001	61689570	T T	TCTGGGCT others(37): Show TCTGGGCTCACTGCAAGCTCTACCTCCTGGGTTCACGCCATTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp1 others(75): Show HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp1 NA18940.hp1 NA18947.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18974.hp2 NA18980.hp1 NA18983.hp1 NA18989.hp2 NA18997.hp1 NA18998.hp1 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0020 a0007c0016	a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 others(12): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0004t0005 a0001c0004t0024 a0001c0005t0002 a0001c0008t0001 a0001c0010t0006 a0001c0011t0003 a0001c0020t0001 a0007c0016t0004	a0001c0002t0004g0004 a0001c0002t0004g0012 a0001c0002t0004g0026 others(63): Show a0001c0002t0004g0004 a0001c0002t0004g0012 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0207 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0004g0231 a0001c0002t0004g0232 a0001c0002t0004g0233 a0001c0002t0004g0239 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0245 a0001c0002t0004g0246 a0001c0002t0006g0010 a0001c0002t0006g0024 a0001c0002t0006g0025 a0001c0002t0006g0197 a0001c0002t0006g0198 a0001c0002t0006g0199 a0001c0002t0006g0208 a0001c0002t0006g0209 a0001c0002t0006g0210 a0001c0002t0006g0211 a0001c0002t0006g0212 a0001c0002t0006g0213 a0001c0002t0006g0217 a0001c0002t0006g0218 a0001c0002t0006g0220 a0001c0002t0006g0221 a0001c0002t0006g0222 a0001c0002t0006g0225 a0001c0002t0009g0026 a0001c0002t0011g0226 a0001c0002t0012g0010 a0001c0002t0017g0202 a0001c0002t0018g0029 a0001c0004t0005g0235 a0001c0004t0024g0203 a0001c0005t0002g0214 a0001c0005t0002g0215 a0001c0005t0002g0216 a0001c0005t0002g0219 a0001c0005t0002g0234 a0001c0005t0002g0236 a0001c0008t0001g0194 a0001c0008t0001g0195 a0001c0008t0001g0205 a0001c0008t0001g0206 a0001c0008t0001g0240 a0001c0010t0006g0237 a0001c0010t0006g0238 a0001c0011t0003g0196 a0001c0020t0001g0204 a0007c0016t0004g0004	78	340	0.2294	44	c.-45 others(61): Show c.-45+9070_-45+9113dupGGCTCACTGCAAGCTCTACCTCCTGGGT TCACGCCATTCTCCTG	DAGLA	ENSG00000134780.10	transcript	ENST00000257215.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(37): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02698.hp2 HG02723.hp2 others(9): Show HG02165.hp2 HG02698.hp2 HG02723.hp2 HG03130.hp1 HG03831.hp1 NA18947.hp1 NA18953.hp2 NA18970.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0002g0175 others(9): Show a0001c0001t0002g0008 a0001c0001t0002g0048 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0198 a0001c0001t0002g0248 a0001c0002t0001g0054 a0001c0002t0001g0302 a0001c0002t0002g0205 a0001c0002t0002g0244	12	388	0.0309	44	c.27 others(55): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGGAAGG others(37): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03516.hp1 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0041 a0001c0001t0004g0043	2	388	0.0052	44	c.27 others(55): Show c.2752_*2753insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(37): Show CCCAACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	236	0.0042	44	c.63- others(61): Show c.63-33457_63-33456insCCAACACACACACACACACACACACACA CACACACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK2_chr15_63902036_64051485	64036307	G G	GTATATAT others(37): Show GTATATATATGTATATATATATATATGTATATATATATACATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01261.hp1 others(1): Show HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166	4	214	0.0187	44	c.92+ others(59): Show c.92+3862_92+3863insTATATGTATATATATATACATATATATATA TATACATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036321	A A	ATATATAT others(37): Show ATATATATATATATGTATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	214	0.0047	44	c.92+ others(59): Show c.92+3848_92+3849insCATATATATATATATATGTATATATATATA CATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAW1_chr2_227866631_227929344	227911239	C C	CATATATA others(37): Show CATATATACATATATACACGTGTATATATACATATATACACGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0305 a0003c0004t0001g0305	1	340	0.0029	44	c.973 others(61): Show c.973+4014_973+4015insTACATATATACACGTGTATATATACATA TATACACGTGTATATA	DAW1	ENSG00000123977.10	transcript	ENST00000309931.3	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAZAP2_chr12_51233826_51248933	51248434	A A	ACACACAC others(37): Show ACACACACACACACACACTCTCACTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	438	0.0023	44	c.59 others(55): Show c.5976_*5977insCACACACACACACACACTCTCACTCTCTCTCTCT CTCTCTCTCT	DAZAP2	ENSG00000183283.16	transcript	ENST00000412716.8	protein_coding		4502		chr12	TogoVar
DBNDD1_chr16_89999871_90024456	90006893	T T	TGTCCCCG others(37): Show TGTCCCCGGCCTCTTGGAGCCTCTGCCCCATCATGGGCCTTGTGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0161 a0001c0001t0010g0161	1	412	0.0024	44	c.320 others(59): Show c.320-402_320-401insTCACAAGGCCCATGATGGGGCAGAGGCTCC AAGAGGCCGGGGAC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DCC_chr18_52335197_53540899	52907241	C C	CATATATA others(37): Show CATATATACATGATATGTCATGGATATATACATGATATGTCATGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0047 a0001c0002t0016g0047	1	114	0.0088	44	c.697 others(59): Show c.697+924_697+967dupGATATGTCATGGATATATACATGATATGTC ATGGATATATACAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300958	A A	ATTCTTTC others(37): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01993.hp1 HG02080.hp1 others(3): Show HG01496.hp2 HG01993.hp1 HG02080.hp1 HG02280.hp1 NA18971.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 others(2): Show a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0015	a0001c0002t0001g0060 a0001c0003t0004g0061 a0002c0001t0001g0053 others(3): Show a0001c0002t0001g0060 a0001c0003t0004g0061 a0002c0001t0001g0053 a0002c0001t0002g0017 a0002c0001t0002g0055 a0002c0001t0015g0069	6	114	0.0526	44	c.191 others(63): Show c.1912-4617_1912-4616insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300962	A A	ATTCTTTC others(37): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp1 NA20752.hp1 HG01255.hp1 HG02602.hp1 NA20752.hp1	a0002 a0002	a0002c0004 a0002c0011 a0002c0004 a0002c0011	a0002c0004t0003 a0002c0004t0017 a0002c0011t0003 a0002c0004t0003 a0002c0004t0017 a0002c0011t0003	a0002c0004t0003g0083 a0002c0004t0017g0062 a0002c0011t0003g0090 a0002c0004t0003g0083 a0002c0004t0017g0062 a0002c0011t0003g0090	3	114	0.0263	44	c.191 others(63): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar

Search by Variant

Search

Search Results (Total: 4475 hits)