Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FRAS1_chr4_78052323_78549269	78200873	A A	ATATATAT others(31): Show ATATATATATATATATATATATGTATATATATAAATACG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0082 a0082	a0082c0114 a0082c0114	a0082c0114t0055 a0082c0114t0055	a0082c0114t0055g0149 a0082c0114t0055g0149	1	178	0.0056	38	c.109 others(57): Show c.109-36624_109-36623insATATATATGTATATATATAAATACGT ATATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	2/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78249064	C C	CATATATA others(31): Show CATATATATATATATATGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG02280.hp1 others(7): Show HG00735.hp2 HG01175.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG03453.hp2 HG03471.hp2 HG04199.hp1 NA18983.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0007 a0017 a0027 a0061 a0065 a0097	a0001c0001 a0003c0002 a0006c0016 others(6): Show a0001c0001 a0003c0002 a0006c0016 a0007c0041 a0017c0012 a0027c0039 a0061c0083 a0065c0079 a0097c0067	a0001c0001t0010 a0003c0002t0002 a0006c0016t0008 others(6): Show a0001c0001t0010 a0003c0002t0002 a0006c0016t0008 a0007c0041t0054 a0017c0012t0008 a0027c0039t0006 a0061c0083t0041 a0065c0079t0007 a0097c0067t0013	a0001c0001t0010g0142 a0003c0002t0002g0050 a0006c0016t0008g0111 others(7): Show a0001c0001t0010g0142 a0003c0002t0002g0050 a0006c0016t0008g0111 a0006c0016t0008g0178 a0007c0041t0054g0009 a0017c0012t0008g0094 a0027c0039t0006g0053 a0061c0083t0041g0112 a0065c0079t0007g0167 a0097c0067t0013g0155	10	178	0.0562	38	c.310 others(55): Show c.310-3312_310-3311insGCATATATATATATATATATATATATAT ATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	4/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FRAS1_chr4_78052323_78549269	78249064	C C	CATATATA others(31): Show CATATATATATATATGCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0030 a0030	a0030c0030 a0030c0030	a0030c0030t0002 a0030c0030t0002	a0030c0030t0002g0029 a0030c0030t0002g0029	1	178	0.0056	38	c.310 others(55): Show c.310-3314_310-3313insGCATATATATATATATATATATATATAT ATATATATAT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	4/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14860780	T T	TACACATA others(31): Show TACACATATATACATATATACACATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0168 a0009c0168	a0009c0168t0004 a0009c0168t0004	a0009c0168t0004g0240 a0009c0168t0004g0240	1	346	0.0029	38	c.330 others(55): Show c.330-1297_330-1296insGTATATATGTATATATGTGTATATATGT ATATATGTGT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	3/36			chr9	TogoVar
FRK_chr6_115926149_116065891	115958820	A A	AAGAGGGG others(31): Show AAGAGGGGGGGGGAAGGAGAGAGAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0242 a0001c0001t0070g0242	1	274	0.0037	38	c.800 others(55): Show c.800-2211_800-2210insCTTTTTCTTTCTTTCTCTCTCTCCTTCC CCCCCCCTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FRK_chr6_115926149_116065891	116061778	A A	ATAAGACT others(31): Show ATAAGACTTTTTTTTTATTTCTTTCTTAAAAACAATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0253 a0001c0001t0015g0253	1	274	0.0037	38	c.-14 others(49): Show c.-1468_-1467insAAGATTGTTTTTAAGAAAGAAATAAAAAAAAAGT CTTA	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding		888		chr6	TogoVar
FRMD4A_chr10_13638706_14335924	13679474	T T	TATACACA others(31): Show TATACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0082 a0001c0002t0014g0082	1	134	0.0075	38	c.111 others(57): Show c.1118-4431_1118-4430insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	15/24			chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999967	T T	TATATATG others(31): Show TATATATGCCATGCATATATATATATATATATGCCATGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	146	0.0069	38	c.103 others(57): Show c.103-75659_103-75658insGCATGGCATATATATATATATATATG CATGGCATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12332060	A A	ATTTATAT others(31): Show ATTTATATACTATATATAAATTATATATGTTTATATACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02293.hp1 NA19043.hp1 HG02055.hp1 HG02293.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0013 a0002c0015 a0002c0003 a0002c0013 a0002c0015	a0002c0003t0009 a0002c0013t0005 a0002c0015t0001 a0002c0003t0009 a0002c0013t0005 a0002c0015t0001	a0002c0003t0009g0006 a0002c0013t0005g0005 a0002c0015t0001g0004 a0002c0003t0009g0006 a0002c0013t0005g0005 a0002c0015t0001g0004	3	174	0.0172	38	c.42- others(57): Show c.42-166620_42-166619insTTTATATACTATATATAAATTATATA TGTTTATATACT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FRS2_chr12_69465388_69584793	69538447	A A	AATTCATG others(31): Show AATTCATGCCTTTTTATATGTTTAAGCTAAAATAAAATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18998.hp1 NA19079.hp2 NA18981.hp2 NA18998.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0130	3	342	0.0088	38	c.-12 others(57): Show c.-122+6468_-122+6505dupATTCATGCCTTTTTATATGTTTAAGC TAAAATAAAATG	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48645124	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18963.hp2 NA18965.hp1 others(2): Show HG01952.hp1 NA18963.hp2 NA18965.hp1 NA18993.hp2 NA19076.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0012 a0011c0029 a0001c0001 a0001c0012 a0011c0029	a0001c0001t0002 a0001c0001t0014 a0001c0012t0001 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0012t0001 a0011c0029t0001	a0001c0001t0002g0258 a0001c0001t0002g0274 a0001c0001t0014g0269 others(2): Show a0001c0001t0002g0258 a0001c0001t0002g0274 a0001c0001t0014g0269 a0001c0012t0001g0159 a0011c0029t0001g0165	5	282	0.0177	38	c.-80 others(57): Show c.-80-10635_-80-10634insTATATATATATATATATATATATATA TATATATATATA	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FRYL_chr4_48492357_48785279	48656464	C C	CATATAAT others(31): Show CATATAATGTATATAGTAATGTATACATATATGCATTAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp2 HG06807.hp2 others(2): Show HG01167.hp2 HG02257.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0024 a0007c0010 a0001c0001 a0001c0024 a0007c0010	a0001c0001t0001 a0001c0024t0001 a0007c0010t0004 a0001c0001t0001 a0001c0024t0001 a0007c0010t0004	a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0024t0001g0239 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0173 a0001c0024t0001g0239 a0007c0010t0004g0240 a0007c0010t0004g0241	5	282	0.0177	38	c.-80 others(57): Show c.-80-22012_-80-21975dupATAATGCATATATGTATACATTACTA TATACATTATAT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FSCN2_chr17_81523377_81542130	81526832	C C	CACGTGAC others(31): Show CACGTGACCTGGTTTCGCACACAGTTGGTGCCTCATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	432	0.0023	38	c.-17 others(49): Show c.-1700_-1699insACGTGACCTGGTTTCGCACACAGTTGGTGCCTCA TAAA	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding		1544		chr17	TogoVar
FSHR_chr2_48957157_49159515	49017419	T T	TATCAAGT others(31): Show TATCAAGTATCAAGTATCAAGTATCAAGTACAAAAAGCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	350	0.0029	38	c.374 others(51): Show c.374+69_374+70insTGCTTTTTGTACTTGATACTTGATACTTGATA CTTGAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	4/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	350	0.0029	38	c.225 others(55): Show c.225-1704_225-1703insTATATATATATATATATATATATATATA GAGAGAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021863	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	350	0.0029	38	c.225 others(55): Show c.225-1704_225-1703insTATATATATATATATATATAGAGAGAGA GAGAGAGAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49021886	T T	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	350	0.0029	38	c.225 others(55): Show c.225-1727_225-1726insCTCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSHR_chr2_48957157_49159515	49049824	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03453.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144	3	350	0.0086	38	c.224 others(57): Show c.224+18394_224+18395insATATATATATATATATATATATATAT ATATATATATAT	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	2/9			chr2	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG04228.hp1 HG02970.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0130 a0002c0002t0002g0018 a0001c0001t0003g0130 a0002c0002t0002g0018	2	176	0.0114	38	c.160 others(57): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATTTTTTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL4_chr5_133191455_133617541	133517447	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	176	0.0057	38	c.160 others(57): Show c.160+49738_160+49739insATATATATATATATATATATATATAT ATATATTTTTTT	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	3/15			chr5	TogoVar
FSTL5_chr4_161378897_162169000	161410987	A A	AGATTAAC others(31): Show AGATTAACAAAGAAAAAAAAAGAGAAGATCAAAATAAGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0099 a0001c0003t0014g0099	1	142	0.0070	38	c.184 others(59): Show c.1842-24539_1842-24538insGCTTATTTTGATCTTCTCTTTTTT TTTCTTTGTTAATC	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161410987	A A	AGATTAAC others(31): Show AGATTAACAAAGAAAAAAAAAGAGAAGATCCAAATAAGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG01069.hp1 others(20): Show HG00558.hp1 HG00642.hp2 HG01069.hp1 HG01361.hp1 HG01952.hp2 HG01981.hp1 HG02280.hp1 HG02293.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18990.hp1 NA19000.hp1 NA19002.hp1 NA19079.hp2 NA19080.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0002c0013 a0004c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0008 a0001c0002t0016 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0013t0003 a0004c0006t0001 a0004c0006t0002 a0004c0009t0006	a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0073 others(20): Show a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0002g0010 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0002t0008g0103 a0001c0002t0016g0135 a0001c0002t0016g0136 a0002c0004t0001g0034 a0002c0004t0001g0066 a0002c0004t0001g0072 a0002c0004t0001g0074 a0002c0004t0001g0087 a0002c0004t0002g0013 a0002c0004t0003g0107 a0002c0004t0004g0121 a0002c0004t0004g0124 a0002c0013t0003g0111 a0004c0006t0001g0040 a0004c0006t0001g0079 a0004c0006t0002g0001 a0004c0009t0006g0140	23	142	0.1620	38	c.184 others(59): Show c.1842-24539_1842-24538insGCTTATTTGGATCTTCTCTTTTTT TTTCTTTGTTAATC	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161437565	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0128 a0003c0005t0009g0128	1	142	0.0070	38	c.184 others(59): Show c.1841+17438_1841+17439insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	161779783	A A	ATATATAT others(31): Show ATATATATATGTATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	142	0.0070	38	c.410 others(55): Show c.410-3710_410-3709insCATATATATATATATACATATATATATA CATATATATA	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15			chr4	TogoVar
FTCD_chr21_46131779_46160579	46135657	C C	CCCAACAT others(31): Show CCCAACATTGATGTCTCCTCACAAATGTCCCCTCACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0129 a0002c0018t0002g0129	1	230	0.0044	38	c.13 others(49): Show c.1329_*1330insCTGGTGAGGGGACATTTGTGAGGAGACATCAATG TTGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		1121		chr21	TogoVar
FUNDC1_chrX_44518639_44547859	44520162	T T	TCAAACAA others(31): Show TCAAACAATCCTCCTGCCTCCAAACAATCCTCCTGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	313	0.0032	38	c.40 others(49): Show c.4035_*4036insGAGGCAGGAGGATTGTTTGGAGGCAGGAGGATTG TTTG	FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding		3476		chrX	TogoVar
FUT8_chr14_65407730_65749121	65433786	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	374	0.0027	38	c.-32 others(59): Show c.-326+20604_-326+20605insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(31): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03098.hp1 NA18972.hp2 HG02165.hp1 HG03098.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0243 a0001c0001t0003g0359 a0001c0001t0015g0098 a0001c0001t0002g0243 a0001c0001t0003g0359 a0001c0001t0015g0098	3	374	0.0080	38	c.-22 others(59): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAAAGAA others(31): Show AAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	432	0.0023	38	c.165 others(55): Show c.165+1339_165+1340insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
FXYD2_chr11_117815057_117829744	117826780	C C	CTATCTAT others(31): Show CTATCTATCTATCTATCTATCTATCTATCTATCTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	482	0.0021	38	c.-21 others(49): Show c.-2103_-2102insTAGACAGATAGATAGATAGATAGATAGATAGATA GATA	FXYD2	ENSG00000137731.14	transcript	ENST00000292079.7	protein_coding		2037		chr11	TogoVar
FYTTD1_chr3_197744883_197792596	197792577	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG03195.hp2 HG03579.hp1 others(5): Show HG02523.hp2 HG03195.hp2 HG03579.hp1 NA18962.hp2 NA19060.hp1 NA19060.hp2 NA19075.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0131 a0001c0001t0001g0167 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0004g0144 a0001c0001t0009g0171 a0001c0001t0021g0226	8	256	0.0313	38	c.10 others(51): Show c.10668_*10669insTATATATATATATATATATATATATATATATA TATATA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding		4982		chr3	TogoVar
G3BP2_chr4_75637786_75678411	75643295	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01081.hp2 others(9): Show HG00323.hp2 HG00738.hp1 HG01081.hp2 HG01891.hp2 HG02040.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG03453.hp1 NA18998.hp1 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0061 others(9): Show a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0061 a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0082 a0001c0001t0006g0043 a0001c0001t0006g0047 a0001c0001t0006g0087 a0001c0001t0006g0098 a0001c0001t0006g0108 a0001c0001t0006g0234	12	330	0.0364	38	c.21 others(49): Show c.2134_*2135insTATATATATATATATATATATATATATATATATA TATA	G3BP2	ENSG00000138757.15	transcript	ENST00000359707.9	protein_coding	12/12	2134		chr4	TogoVar
GAB1_chr4_143331876_143479565	143373868	A A	AATAAATA others(31): Show AATAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0008 a0001c0001t0007g0008	1	194	0.0052	38	c.72+ others(55): Show c.72+36611_72+36612insAATATATATATATATATATATATATATA TATATATATA	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78213917	T T	TGGCACCT others(31): Show TGGCACCTTAGTCCTCAGCCTGATGAAGGGTACACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0107 a0001c0001t0022g0107	1	288	0.0035	38	c.53 others(49): Show c.5317_*5354dupCTCTGTGTACCCTTCATCAGGCTGAGGACTAAGG TGCC	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding		1375		chr11	TogoVar
GAB2_chr11_78210293_78422820	78267857	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	288	0.0035	38	c.376 others(57): Show c.376+12743_376+12744insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	2/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98436288	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATCCATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19002.hp1 HG02135.hp2 NA19002.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0007 a0002c0010t0007 a0002c0006t0007 a0002c0010t0007	a0002c0006t0007g0033 a0002c0010t0007g0032 a0002c0006t0007g0033 a0002c0010t0007g0032	2	164	0.0122	38	c.123 others(59): Show c.1236+17692_1236+17693insTTATGGATATATATATATATATAT ATATATATATATAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46264986	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0139 a0001c0001t0028g0139	1	258	0.0039	38	c.857 others(55): Show c.857-2859_857-2858insATATATATATATATATATATATATATAT ATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA4_chr4_46913900_46998581	46916376	G G	GCAGAAAT others(31): Show GCAGAAATGCAAAGAAAGATCAAAAGCCAATAAGCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0011 a0002c0002t0031g0011	1	370	0.0027	38	c.11 others(51): Show c.11848_*11849insAGATGCTTATTGGCTTTTGATCTTTCTTTGCA TTTCTG	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding		2523		chr4	TogoVar
GABRB3_chr15_26538552_26778066	26554129	A A	ATATATAT others(31): Show ATATATATAAAGTGTGTGTGTATATATATATATATAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19043.hp1 HG02622.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0136 a0001c0001t0002g0091 a0001c0001t0002g0136	2	204	0.0098	38	c.108 others(57): Show c.1081-5996_1081-5995insCTTTATATATATATATATACACACAC ACTTTATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388369	A A	AAAGGAAG others(31): Show AAAGGAAGGAAGGAAGGAAAGGAGAGAGGGAGGGGAAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01517.hp1 NA18522.hp2 HG01433.hp1 HG01517.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0033 a0001c0003t0001 a0001c0001t0001 a0001c0002t0033 a0001c0003t0001	a0001c0001t0001g0036 a0001c0002t0033g0030 a0001c0003t0001g0065 a0001c0001t0001g0036 a0001c0002t0033g0030 a0001c0003t0001g0065	3	92	0.0326	38	c.574 others(57): Show c.574+59504_574+59505insAGAGGGAGGGGAAGGAAGGAAGGAAG GAAGGAAAGGAG	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAK_chr4_844277_937316	926846	A A	AGCTCACC others(31): Show AGCTCACCTGCGCTCCGCACTGCCCCCGCACCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18955.hp1 HG02055.hp2 NA18955.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0006c0013t0001 a0001c0001t0002 a0006c0013t0001	a0001c0001t0002g0112 a0006c0013t0001g0266 a0001c0001t0002g0112 a0006c0013t0001g0266	2	390	0.0051	38	c.145 others(55): Show c.145+5196_145+5197insGGGGAGGGGTGCGGGGGCAGTGCGGAGC GCAGGTGAGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926873	C C	CACCCCTC others(31): Show CACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG01261.hp1 others(13): Show HG00673.hp2 HG00733.hp1 HG01261.hp1 HG01496.hp2 HG02004.hp2 HG02074.hp2 HG02148.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18941.hp1 NA18998.hp1 NA19002.hp2 NA19082.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0001c0004 a0001c0031 others(3): Show a0001c0001 a0001c0004 a0001c0031 a0003c0006 a0005c0044 a0009c0025	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0031t0001 a0003c0006t0001 a0005c0044t0001 a0009c0025t0002	a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0001g0074 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0318 a0001c0001t0001g0346 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0004t0001g0066 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0031t0001g0116 a0003c0006t0001g0319 a0005c0044t0001g0102 a0009c0025t0002g0118	16	390	0.0410	38	c.145 others(55): Show c.145+5169_145+5170insTGCGGGGCAGTGCGGAGCGCAGGTGAGC GGGGAGGGGT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927794	A A	ACCCCTCC others(31): Show ACCCCTCCCTGCTTACCTGCGCTCTGCACTGCCCCGCAC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	390	0.0026	38	c.145 others(55): Show c.145+4248_145+4249insGTGCGGGGCAGTGCAGAGCGCAGGTAAG CAGGGAGGGG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805195	G G	GTCTGCAG others(31): Show GTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0002 a0005c0005t0001g0002	1	314	0.0032	38	c.10 others(49): Show c.1029_*1030insTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		909		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805198	T T	TGCAGGCC others(31): Show TGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	314	0.0032	38	c.10 others(49): Show c.1032_*1033insGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		912		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805209	T T	TTCCCTCC others(31): Show TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	38	c.10 others(49): Show c.1043_*1044insTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		923		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805292	C C	CCCCCCTC others(31): Show CCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0243 a0003c0003t0001g0243	1	314	0.0032	38	c.11 others(49): Show c.1126_*1127insCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1006		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805370	C C	CCCCCCTC others(31): Show CCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	314	0.0032	38	c.12 others(49): Show c.1204_*1205insCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1084		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805373	C C	CCTCAACC others(31): Show CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	314	0.0032	38	c.12 others(49): Show c.1207_*1208insCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1087		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805470	C C	CGCAGGCC others(31): Show CGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	314	0.0032	38	c.13 others(49): Show c.1304_*1305insGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1184		chr2	TogoVar

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Search Results (Total: 5880 hits)