Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM168A_chr11_73395487_73603112	73484548	C C	CTATATCT others(27): Show CTATATCTATATATCTATATATCTATCTATATCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG01069.hp1 others(37): Show HG00140.hp2 HG00544.hp1 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01517.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp1 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA18984.hp1 NA19005.hp1 NA19056.hp2 NA19083.hp1 NA19084.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005	a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 others(6): Show a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0002t0012 a0001c0002t0031 a0001c0002t0045 a0001c0006t0001 a0002c0005t0001	a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 others(37): Show a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0006g0067 a0001c0001t0006g0180 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0124 a0001c0002t0005g0085 a0001c0002t0005g0092 a0001c0002t0012g0113 a0001c0002t0031g0111 a0001c0002t0045g0112 a0001c0006t0001g0083 a0002c0005t0001g0055	40	119	0.3361	34	c.-18 others(53): Show c.-18-16057_-18-16056insTAGATATAGATAGATATATAGATATA TAGATATA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM177B_chr1_222732202_222756004	222753179	G G	GATATTTG others(27): Show GATATTTGAATTGAAGAAGTGGATTTTTATCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	398	0.0025	34	c.31 others(45): Show c.3121_*3122insATATTTGAATTGAAGAAGTGGATTTTTATCTAGC	FAM177B	ENSG00000197520.11	transcript	ENST00000445590.4	protein_coding		2176		chr1	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(27): Show ATAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02647.hp2 HG01515.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0105 a0001c0001t0005g0031 a0001c0001t0001g0105 a0001c0001t0005g0031	2	183	0.0109	34	c.291 others(53): Show c.2916-3042_2916-3041insATATATATATATATATATATATATAT ATATTTTA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	50	0.0200	34	c.291 others(53): Show c.2916-3057_2916-3056insAAAAAAAATATATATATATATATATA TATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17628255	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0007 a0005c0010t0007	a0005c0010t0007g0077 a0005c0010t0007g0077	1	28	0.0357	34	c.42 others(45): Show c.4243_*4276dupACACACACACACACACACACACACACACACACAC	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding		1050		chr4	TogoVar
FAM184B_chr4_17624306_17786621	17781777	A A	AGCCTCCG others(27): Show AGCCTCCGGAGAGGGACAGGGCACAGTGACTGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0157 a0001c0007t0002g0157	1	236	0.0042	34	c.-47 others(43): Show c.-479_-478insCGCCAGTCACTGTGCCCTGTCCCTCTCCGGAGGC	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding		157		chr4	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(27): Show GAGAGAGAGAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01978.hp2 HG02165.hp1 others(19): Show HG01884.hp2 HG01978.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp2 HG02922.hp2 HG03453.hp2 HG03486.hp2 HG03710.hp2 HG03927.hp2 NA18747.hp2 NA18945.hp2 NA18948.hp2 NA18957.hp1 NA18967.hp2 NA18968.hp2 NA18989.hp1 NA19009.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0005 a0002c0002 a0002c0006 a0005c0005	a0002c0002t0001 a0002c0006t0001 a0005c0005t0001 a0002c0002t0001 a0002c0006t0001 a0005c0005t0001	a0002c0002t0001g0074 a0002c0002t0001g0115 a0002c0002t0001g0118 others(19): Show a0002c0002t0001g0074 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0001g0199 a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0316 a0002c0006t0001g0125 a0002c0006t0001g0158 a0002c0006t0001g0178 a0005c0005t0001g0107 a0005c0005t0001g0110	22	107	0.2056	34	c.650 others(53): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCCTT CTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0247 a0006c0008t0001g0247	1	86	0.0116	34	c.650 others(53): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCCTTCTCT CTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM200A_chr7_99541300_99557114	99553068	C C	CATATATA others(27): Show CATATATATATATACACACATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG01975.hp1 others(4): Show HG01192.hp2 HG01496.hp1 HG01975.hp1 NA18947.hp2 NA18949.hp2 NA18980.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0008	7	309	0.0227	34	c.-13 others(45): Show c.-1315_-1314insATATATATATATATATGTGTGTATATATATATAT	FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding		955		chr7	TogoVar
FAM20A_chr17_68530116_68606367	68581382	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0251 a0002c0003t0001g0251	1	376	0.0027	34	c.404 others(53): Show c.404+18847_404+18880dupAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68581388	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	378	0.0026	34	c.404 others(53): Show c.404+18874_404+18875insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0200 a0001c0002t0006g0200	1	97	0.0103	34	c.-40 others(53): Show c.-40-12013_-40-12012insAATATATATATATATATATATATATA TATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0168 a0001c0002t0024g0168	1	97	0.0103	34	c.-40 others(53): Show c.-40-12013_-40-12012insAAAAAATATATATATATATATATATA TATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02647.hp1 HG01074.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0025 a0001c0002t0002 a0001c0002t0025	a0001c0002t0002g0224 a0001c0002t0025g0201 a0001c0002t0002g0224 a0001c0002t0025g0201	2	98	0.0204	34	c.-40 others(53): Show c.-40-12013_-40-12012insAAAAAAAATATATATATATATATATA TATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	97	0.0103	34	c.-40 others(53): Show c.-40-12013_-40-12012insAAAAAAAAAAAATATATATATATATA TATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28822842	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG03579.hp1 HG02109.hp1 HG02109.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021	a0001c0001t0004g0255 a0001c0001t0012g0271 a0001c0001t0021g0270 a0001c0001t0004g0255 a0001c0001t0012g0271 a0001c0001t0021g0270	3	273	0.0110	34	c.-41 others(53): Show c.-41+19839_-41+19840insGTGTGTATATATATATATATATATAT ATATATAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38613168	G G	GTATATAT others(27): Show GTATATATATTATATATAATATATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	326	0.0031	34	c.103 others(53): Show c.1039-5726_1039-5693dupATATAATATATATATATTATATATAA TATATATA	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	11/16			chr22	TogoVar
FAM240C_chr2_241888988_241905464	241902317	T T	TGCCGCCT others(27): Show TGCCGCCTCCCCTCCGCCGCCGCCTCCCCTCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01943.hp2 HG02273.hp2 others(4): Show HG00323.hp1 HG01943.hp2 HG02273.hp2 HG02922.hp2 HG03195.hp2 HG03579.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0020 a0002c0002t0001g0011 a0002c0002t0001g0013 others(4): Show a0001c0001t0001g0020 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0002g0002	7	9	0.7778	34	c.-19 others(45): Show c.-1982_-1949dupGGCGGAGGGGAGGCGGCGGCGGAGGGGAGGCGGC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding		1854		chr2	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18954.hp1 NA18955.hp1 others(4): Show NA18946.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18968.hp1 NA19057.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0092 a0001c0001t0002 a0001c0001t0007 a0001c0001t0092	a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0007g0005 others(3): Show a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0007g0005 a0001c0001t0007g0007 a0001c0001t0007g0118 a0001c0001t0092g0007	7	14	0.5000	34	c.10 others(47): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM3B_chr21_41311801_41362727	41341142	G G	GTTAATAG others(27): Show GTTAATAGAGATTACTCCATATCAGTACATCAGGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	312	0.0032	34	c.287 others(51): Show c.287+2644_287+2677dupAATAGAGATTACTCCATATCAGTACATC AGGCTT	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAM53A_chr4_1634887_1689313	1665963	C C	CTGTATCT others(27): Show CTGTATCTAAAATAAAACCTGCACCTGCACCCCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03453.hp2 HG03471.hp2 HG01106.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0005 a0001c0002t0015	a0001c0002t0005g0314 a0001c0002t0005g0323 a0001c0002t0015g0125 a0001c0002t0005g0314 a0001c0002t0005g0323 a0001c0002t0015g0125	3	346	0.0087	34	c.75+ others(49): Show c.75+2703_75+2704insAGGGGGTGCAGGTGCAGGTTTTATTTTAGA TACA	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	2/4			chr4	TogoVar
FAM53C_chr5_138333266_138354729	138334612	A A	AAAGTGCT others(27): Show AAAGTGCTGGGATTACAGGTGTGAGCCACCATGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	430	0.0023	34	c.-38 others(45): Show c.-3848_-3847insAAGTGCTGGGATTACAGGTGTGAGCCACCATGCC	FAM53C	ENSG00000120709.11	transcript	ENST00000239906.10	protein_coding		3653		chr5	TogoVar
FAM78B_chr1_166064299_166172001	166077696	A A	AATAAATA others(27): Show AATAAATACATATAATTATATATTTATATATAAAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0293 a0001c0001t0023g0293	1	316	0.0032	34	c.264 others(51): Show c.264-6934_264-6933insATTTATATATAAATATATAATTATATGT ATTTAT	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166094003	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	150	0.0067	34	c.264 others(53): Show c.264-23274_264-23241dupCACACACACACACACACACACACACA CACACACA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(27): Show GTATATATATATATGTATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02523.hp1 NA19006.hp2 others(1): Show HG01074.hp1 HG02523.hp1 NA19006.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0200 a0001c0002t0003g0284 a0001c0002t0003g0285 others(1): Show a0001c0002t0003g0200 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0005g0299	4	234	0.0171	34	c.264 others(53): Show c.264-39120_264-39119insTATATATATATACATATATACATATA TATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(27): Show GTATATATATATATGTATATATGTATGTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA20905.hp1 HG00140.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0210 a0001c0002t0003g0209 a0001c0001t0002g0210 a0001c0002t0003g0209	2	232	0.0086	34	c.264 others(53): Show c.264-39120_264-39119insTATATATACATACATATATACATATA TATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109892	A A	ATATATAT others(27): Show ATATATATATATGTATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	296	0.0034	34	c.264 others(53): Show c.264-39130_264-39129insCATATATACATATATATATATACATA TATATATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FANCI_chr15_89238979_89322131	89308356	C C	CTTTAGAA others(27): Show CTTTAGAAAACGAAACCTCTAGGGACAGAATCCTA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	344	0.0029	34	c.365 others(51): Show c.3651+684_3651+685insTTTAGAAAACGAAACCTCTAGGGACAGA ATCCTA	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	34/37			chr15	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01169.hp1 others(5): Show HG01099.hp2 HG01168.hp1 HG01169.hp1 HG02155.hp2 HG03195.hp2 NA18522.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0351 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0351 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0364 a0001c0001t0002g0368 a0001c0006t0001g0046	8	216	0.0370	34	c.13+ others(51): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT ATATAT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125991250	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp1 HG02818.hp2 HG01099.hp2 HG01169.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0204 a0001c0001t0002g0360 a0001c0001t0002g0361	3	37	0.0811	34	c.316 others(51): Show c.316+2603_316+2604insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29313858	A A	ACTGCATT others(27): Show ACTGCATTGATATATTGCCTTATCTCTATTTTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp2 HG01891.hp1 others(8): Show HG00738.hp1 HG01169.hp2 HG01891.hp1 HG02451.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0086 a0001c0002t0001g0128 a0001c0002t0001g0129 others(8): Show a0001c0002t0001g0086 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0213 a0001c0002t0001g0265 a0001c0002t0017g0219	11	324	0.0340	34	c.955 others(51): Show c.955+1911_955+1944dupGCATTGATATATTGCCTTATCTCTATTT TCTCCT	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98378943	A A	ATATAATA others(27): Show ATATAATATATATATAATATATACAATATATAATC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	216	0.0046	34	c.496 others(51): Show c.496+1030_496+1063dupATATATATATAATATATACAATATATAA TCTATA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(27): Show AACACACACACACACACACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp1 HG02300.hp1 HG01175.hp1 HG02148.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0002t0080 a0001c0001t0005 a0001c0002t0006 a0001c0002t0080	a0001c0001t0005g0061 a0001c0002t0006g0064 a0001c0002t0080g0100 a0001c0001t0005g0061 a0001c0002t0006g0064 a0001c0002t0080g0100	3	7	0.4286	34	c.141 others(53): Show c.1414+5962_1414+5963insCAGACACACACACACACACACACACA CACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(27): Show AACACACACACACACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02698.hp1 HG03239.hp1 HG02602.hp2 HG02698.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0007g0002 a0001c0002t0001g0087 a0001c0002t0002g0194 a0001c0001t0007g0002 a0001c0002t0001g0087 a0001c0002t0002g0194	3	7	0.4286	34	c.141 others(53): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATACACGT others(27): Show ATACACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0186 a0006c0009t0001g0186	1	97	0.0103	34	c.-24 others(51): Show c.-24-6957_-24-6956insCACGTATATATATATACATATATATATA TACGTA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATATACAC others(27): Show ATATACACGTATATATATATACATATATATATACG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp1 others(8): Show HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp2 HG02622.hp2 HG02897.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0025 others(1): Show a0001c0001 a0001c0004 a0001c0025 a0006c0009	a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 a0006c0009t0001	a0001c0001t0001g0158 a0001c0004t0001g0157 a0001c0004t0001g0159 others(8): Show a0001c0001t0001g0158 a0001c0004t0001g0157 a0001c0004t0001g0159 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0175 a0001c0025t0001g0160 a0006c0009t0001g0183 a0006c0009t0001g0184 a0006c0009t0001g0187	11	107	0.1028	34	c.-24 others(51): Show c.-24-6955_-24-6954insCACGTATATATATATACATATATATATA CGTATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241366125	A A	ATATACGT others(27): Show ATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp2 NA18964.hp2 others(4): Show HG00280.hp1 HG02004.hp2 NA18964.hp2 NA18972.hp1 NA18986.hp1 NA19086.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0001c0003t0007 a0003c0005t0001 others(1): Show a0001c0003t0001 a0001c0003t0007 a0003c0005t0001 a0003c0005t0003	a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 others(4): Show a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0007g0037 a0003c0005t0001g0051 a0003c0005t0003g0058	7	103	0.0680	34	c.-24 others(51): Show c.-24-6955_-24-6954insCGTATATATATATACATATATATATATA CGTATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241497925	G G	GCCTGTGA others(27): Show GCCTGTGACTCCCACCCTCTCCTGACTCTGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0043 a0003c0005t0001g0043	1	376	0.0027	34	c.38 others(45): Show c.3800_*3801insCCTGTGACTCCCACCCTCTCCTGACTCTGAGGGC	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		3085		chr2	TogoVar
FARS2_chr6_5256513_5776583	5407043	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	90	0.0111	34	c.772 others(51): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TATATA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03492.hp1 HG03704.hp2 others(3): Show HG01978.hp2 HG03492.hp1 HG03704.hp2 NA18942.hp1 NA18950.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0036 a0002c0002t0001g0047 others(3): Show a0002c0002t0001g0019 a0002c0002t0001g0036 a0002c0002t0001g0047 a0002c0002t0001g0053 a0002c0002t0001g0063 a0002c0002t0001g0072	6	111	0.0541	34	c.772 others(51): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TATAAA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02615.hp1 NA19082.hp2 HG00621.hp2 HG02615.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0127 a0001c0001t0002g0140 a0002c0002t0001g0013 a0001c0001t0002g0127 a0001c0001t0002g0140 a0002c0002t0001g0013	3	61	0.0492	34	c.905 others(51): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT ATATAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539396	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	160	0.0063	34	c.905 others(51): Show c.905-5781_905-5780insATATATATATATATATATATATATATAT ATGTAT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATATAGA others(27): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	85	0.0118	34	c.121 others(55): Show c.1218-53355_1218-53354insTATAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp2 HG01167.hp2 others(15): Show HG01070.hp1 HG01074.hp2 HG01167.hp2 HG02602.hp2 HG03688.hp2 HG04184.hp2 NA18942.hp2 NA18965.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18992.hp2 NA19056.hp1 NA19062.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0006 others(8): Show a0001 a0002 a0006 a0007 a0014 a0017 a0022 a0031 a0032 a0048 a0066	a0001c0048 a0001c0111 a0002c0001 others(11): Show a0001c0048 a0001c0111 a0002c0001 a0006c0005 a0007c0045 a0007c0051 a0007c0054 a0014c0084 a0017c0031 a0022c0028 a0031c0069 a0032c0046 a0048c0135 a0066c0117	a0001c0048t0001 a0001c0111t0001 a0002c0001t0001 others(12): Show a0001c0048t0001 a0001c0111t0001 a0002c0001t0001 a0006c0005t0002 a0007c0045t0002 a0007c0051t0002 a0007c0054t0001 a0014c0084t0003 a0017c0031t0001 a0017c0031t0018 a0022c0028t0001 a0031c0069t0001 a0032c0046t0002 a0048c0135t0003 a0066c0117t0002	a0001c0048t0001g0026 a0001c0111t0001g0131 a0002c0001t0001g0367 others(15): Show a0001c0048t0001g0026 a0001c0111t0001g0131 a0002c0001t0001g0367 a0006c0005t0002g0135 a0006c0005t0002g0147 a0006c0005t0002g0148 a0007c0045t0002g0243 a0007c0051t0002g0173 a0007c0054t0001g0020 a0007c0054t0001g0024 a0014c0084t0003g0161 a0017c0031t0001g0085 a0017c0031t0018g0112 a0022c0028t0001g0072 a0031c0069t0001g0298 a0032c0046t0002g0276 a0048c0135t0003g0088 a0066c0117t0002g0109	18	58	0.3103	34	c.919 others(51): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT ATATAT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92442111	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0086 a0001c0050t0086	a0001c0050t0086g0025 a0001c0050t0086g0025	1	23	0.0435	34	c.329 others(55): Show c.3293-82522_3293-82521insATATATATATATATATATATATTT TTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19065.hp2 HG02809.hp2 NA19065.hp2	a0004 a0012 a0004 a0012	a0004c0048 a0012c0022 a0004c0048 a0012c0022	a0004c0048t0046 a0012c0022t0003 a0004c0048t0046 a0012c0022t0003	a0004c0048t0046g0053 a0012c0022t0003g0072 a0004c0048t0046g0053 a0012c0022t0003g0072	2	60	0.0333	34	c.367 others(53): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(27): Show GTGTGTGTGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0055 a0024c0037t0055	a0024c0037t0055g0097 a0024c0037t0055g0097	1	59	0.0169	34	c.367 others(53): Show c.3670-8057_3670-8056insGTGTGTGTATGTATATATATATATAT ATATATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAU_chr11_65115630_65127134	65123688	C C	CACACCAC others(27): Show CACACCACTGCACTCCAGCCTAGGTGACAGAGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	34	c.-16 others(45): Show c.-1641_-1608dupTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGT	FAU	ENSG00000149806.11	transcript	ENST00000529639.6	protein_coding		1555		chr11	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	37	0.0270	34	c.367 others(51): Show c.367-2059_367-2058insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FBH1_chr10_5885243_5942593	5916521	A A	ATCTGAGG others(27): Show ATCTGAGGATGGGGAAACAGGGGAAGTGTTAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0101 a0001c0007t0001g0140 a0001c0007t0001g0101 a0001c0007t0001g0140	2	337	0.0059	34	c.178 others(51): Show c.1788+117_1788+150dupAGGGGAAGTGTTAGGGGTCTGAGGATGG GGAAAC	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results