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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	392	0.0026	36	c.-68 others(55): Show c.-68-15034_-68-15033insAAAAAAAAAAAATATATATATATATA TATATATATA		EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17						chr1	TogoVar
EYS_chr6_63714980_65712226	64019830	A A	ATATATAT others(29): Show ATATATATATGTATATATAAGTATATATATATACACT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0012 a0001c0009t0001g0012	1	24	0.0417	36	c.672 others(57): Show c.6726-20648_6726-20647insAGTGTATATATATATACTTATATA TACATATATATA		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	33/42						chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0002 a0004c0017t0001g0002	1	24	0.0417	36	c.202 others(57): Show c.2023+24734_2023+24735insTATATATATATATATATATATATA TATATATATATA		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42						chr6	TogoVar
EYS_chr6_63714980_65712226	65317825	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0020 a0020	a0020c0015 a0020c0015	a0020c0015t0002 a0020c0015t0002	a0020c0015t0002g0023 a0020c0015t0002g0023	1	24	0.0417	36	c.176 others(57): Show c.1766+17154_1766+17155insAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAG		EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42						chr6	TogoVar
EZH2_chr7_148802383_148889291	148839053	T T	TAAGGAAG others(29): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	380	0.0026	36	c.247 others(53): Show c.247-6339_247-6304dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	3/19						chr7	TogoVar
EZH2_chr7_148802383_148889291	148866491	A A	AATATATA others(29): Show AATATATATACGTATATACATATATATGTGTATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp1 others(17): Show HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 others(17): Show a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0277 a0001c0005t0001g0253	20	380	0.0526	36	c.-8+ others(53): Show c.-8+17637_-8+17672dupGTATATACACATATATATGTATATACGT ATATATAT		EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19						chr7	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19087.hp2 HG01175.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0239 a0001c0001t0001g0156 a0001c0001t0001g0239	2	292	0.0069	36	c.111 others(57): Show c.1112+11708_1112+11709insATATATATATATATATATATATAT ATATATATATAT		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14						chr6	TogoVar
F13A1_chr6_6139084_6325662	6321373	C C	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02280.hp1 NA19043.hp1 HG00733.hp1 HG02280.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0004 a0001c0006t0001 a0002c0002t0001 a0001c0001t0004 a0001c0006t0001 a0002c0002t0001	a0001c0001t0004g0246 a0001c0006t0001g0203 a0002c0002t0001g0073 a0001c0001t0004g0246 a0001c0006t0001g0203 a0002c0002t0001g0073	3	292	0.0103	36	c.-80 others(45): Show c.-806_-805insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding					712		chr6	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0079	1	400	0.0025	36	c.-80 others(45): Show c.-802_-801insATATATATATATATATATATATATATATATATATAT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding					750		chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGG others(29): Show GCGAGGGGTGTCCCGGGGGTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	400	0.0025	36	c.64+ others(51): Show c.64+1608_64+1609insCGAGGGGTGTCCCGGGGGTGTGGGTGTCCC AGGGGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7						chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(29): Show GCGAGGGTGTCCCGGGGGGTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	400	0.0025	36	c.64+ others(51): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGGGTGTGGGTGTCCC AGGGGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7						chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(29): Show GCGAGGGTGTCCCGGGGGTGTGGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	400	0.0025	36	c.64+ others(51): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGGTGTGGGGTGTCCC AGGGGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7						chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(29): Show GCGAGGGTTGTCCCGGGGGTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0144 a0002c0002t0003g0144	1	400	0.0025	36	c.64+ others(51): Show c.64+1608_64+1609insCGAGGGTTGTCCCGGGGGTGTGGGTGTCCC AGGGGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7						chr13	TogoVar
F7_chr13_113100791_113125685	113117603	A A	ACCACTCT others(29): Show ACCACTCTCCCCTGTCCGACCGCGTGCTGGGTGGGTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	400	0.0025	36	c.739 others(49): Show c.739+30_739+31insTGCTGGGTGGGTGCCACTCTCCCCTGTCCGAC CGCG		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FAAH2_chrX_57281706_57494193	57306994	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01516.hp2 HG01891.hp1 others(3): Show HG00544.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 NA18612.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0055 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0002t0002g0138 a0001c0002t0002g0232	6	282	0.0213	36	c.276 others(53): Show c.276-3596_276-3595insTATATATATATATATATATATATATATA TATATATA		FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
FAAP100_chr17_81534891_81557353	81535800	A A	ACCATCCC others(29): Show ACCATCCCCATCTCCATCACCATCCCCCTCTCCATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(20): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG03942.hp2 NA18747.hp2 NA18941.hp2 NA18959.hp2 NA18969.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19068.hp1 NA19078.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0016c0025	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0016c0025t0002	a0001c0001t0001g0001 a0002c0002t0002g0013 a0002c0002t0002g0014 others(14): Show a0001c0001t0001g0001 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0093 a0003c0003t0003g0206 a0016c0025t0002g0094	23	436	0.0528	36	c.49 others(47): Show c.4983_*5018dupGGATGGAGAGGGGGATGGTGATGGAGATGGGGAT GG		FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding					4090		chr17	TogoVar
FAAP20_chr1_2184548_2199772	2188425	A A	ACCACAGA others(29): Show ACCACAGACCTGGGGCTTCAACCAGACTCTCTCGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	36	c.12 others(47): Show c.1248_*1283dupAGCCGAGAGAGTCTGGTTGAAGCCCCAGGTCTGT GG		FAAP20	ENSG00000162585.17	transcript	ENST00000378546.9	protein_coding					1122		chr1	TogoVar
FADS2_chr11_61823300_61872354	61824488	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAAAGAAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	280	0.0036	36	c.-39 others(47): Show c.-3903_-3902insGAGAGAGAGAGAGAGAGAGAGAAAGAAAAGAAAG AA		FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding					3811		chr11	TogoVar
FADS6_chr17_74872302_74898633	74893497	C C	CGGTTCCA others(29): Show CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00738.hp2 HG01106.hp2 others(21): Show HG00099.hp2 HG00738.hp2 HG01106.hp2 HG02074.hp1 HG02080.hp2 HG02293.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG03130.hp2 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18962.hp2 NA18969.hp1 NA18981.hp2 NA19066.hp1 NA19081.hp2 NA19082.hp1 NA20300.hp1	a0004 a0004	a0004c0004 a0004c0009 a0004c0004 a0004c0009	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(5): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0009 a0004c0004t0011 a0004c0004t0016 a0004c0009t0004	a0004c0004t0001g0352 a0004c0004t0001g0353 a0004c0004t0001g0354 others(19): Show a0004c0004t0001g0352 a0004c0004t0001g0353 a0004c0004t0001g0354 a0004c0004t0001g0356 a0004c0004t0001g0359 a0004c0004t0001g0361 a0004c0004t0001g0362 a0004c0004t0001g0367 a0004c0004t0001g0369 a0004c0004t0001g0370 a0004c0004t0002g0036 a0004c0004t0002g0358 a0004c0004t0002g0371 a0004c0004t0003g0365 a0004c0004t0003g0366 a0004c0004t0004g0364 a0004c0004t0009g0368 a0004c0004t0011g0360 a0004c0004t0016g0363 a0004c0009t0004g0035 a0004c0009t0004g0355 a0004c0009t0004g0357	24	440	0.0546	36	c.63_ others(41): Show c.63_98dupTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC	p.Pro others(47): Show p.Pro33_Ala34insThrGluProMetGluProThrGluProMetGluP ro	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	98/1107	33/368			chr17	TogoVar
FAF1_chr1_50432028_50965267	50490384	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0186 a0001c0001t0009g0186	1	190	0.0053	36	c.165 others(53): Show c.1653+168_1653+203dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	17/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50554390	T T	TATATATA others(29): Show TATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0033 a0001c0001t0038g0033	1	190	0.0053	36	c.126 others(57): Show c.1268+12686_1268+12687insCTCTCTCTCTCTCTCTATATATAT ATATATATATAT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCACAC others(29): Show TCTCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0180 a0001c0001t0031g0180	1	190	0.0053	36	c.46- others(53): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGAG		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50885312	T T	TCTCTCAC others(29): Show TCTCTCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0184 a0001c0001t0010g0184	1	190	0.0053	36	c.46- others(53): Show c.46-27316_46-27315insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGAGAG		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	1/18						chr1	TogoVar
FAF2_chr5_176443385_176515074	176451817	T T	TATATATA others(29): Show TATATATACATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01074.hp2 others(2): Show HG01069.hp1 HG01070.hp1 HG01074.hp2 HG02717.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0016 others(1): Show a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017	5	372	0.0134	36	c.63+ others(51): Show c.63+3354_63+3355insCATATATATATATACACATATATATATACA TATATA		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM104A_chr17_73202365_73237394	73224960	G G	GACAGCAC others(29): Show GACAGCACAGCACAGGACAGGCACAGCACAGCACAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	400	0.0025	36	c.321 others(53): Show c.321+2204_321+2205insGCTGTGCTGTGCTGTGCCTGTCCTGTGC TGTGCTGT		FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3						chr17	TogoVar
FAM107B_chr10_14513557_14779897	14572736	A A	ATTTTATA others(29): Show ATTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	272	0.0037	36	c.470 others(55): Show c.470-42222_470-42221insATATATATATATATATATATATATAT ATATATAAAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14629389	A A	ATTATATA others(29): Show ATTATATATTTAATATATATAACATATATTATATATT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19063.hp1 NA19240.hp1 HG02135.hp2 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0058 a0001c0001t0002g0199 a0001c0001t0003g0027 a0001c0001t0002g0058 a0001c0001t0002g0199 a0001c0001t0003g0027	3	272	0.0110	36	c.469 others(55): Show c.469+38244_469+38245insAATATATAATATATGTTATATATATT AAATATATAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14629416	A A	ATTATATA others(29): Show ATTATATATTTAATATATATAACATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18968.hp2 HG01975.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0208 a0001c0001t0010g0086 a0001c0001t0001g0208 a0001c0001t0010g0086	2	272	0.0074	36	c.469 others(55): Show c.469+38217_469+38218insAATATATAATATATGTTATATATATT AAATATATAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14767055	T T	TATATATA others(29): Show TATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	272	0.0037	36	c.411 others(53): Show c.411+7197_411+7198insCTCTCTCTCTCTATATATATATATATAT ATATATAT		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4						chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18959.hp2 NA19079.hp2 HG02080.hp2 NA18959.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0033 a0001c0001t0037 a0001c0001t0009 a0001c0001t0033 a0001c0001t0037	a0001c0001t0009g0199 a0001c0001t0033g0081 a0001c0001t0037g0180 a0001c0001t0009g0199 a0001c0001t0033g0081 a0001c0001t0037g0180	3	300	0.0100	36	c.-51 others(57): Show c.-512+12118_-512+12119insATATATATATATATATATATATTT TTTTTTTTTTTT		FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110B_chr8_57989523_58153784	58047591	C C	CCTCTCTC others(29): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0186 a0001c0001t0005g0271 a0001c0001t0002g0186 a0001c0001t0005g0271	2	300	0.0067	36	c.-41 others(57): Show c.-414+15897_-414+15932dupCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT		FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM110D_chr1_26154079_26168962	26167775	C C	CCTGCTAC others(29): Show CCTGCTACTCTAGCTGGGATCTTCCCAGGTGCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	412	0.0024	36	c.56 others(47): Show c.5668_*5669insCTGCTACTCTAGCTGGGATCTTCCCAGGTGCTGG AG		FAM110D	ENSG00000197245.6	transcript	ENST00000374268.5	protein_coding					3814		chr1	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	318	0.0031	36	c.215 others(55): Show c.2159+2335_2159+2336insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170318607	A A	ACCCTGAA others(29): Show ACCCTGAACCCAGGCAAGAAGTTCCCATGTGTACAGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00558.hp2 HG00673.hp2 others(66): Show HG00099.hp2 HG00558.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp2 HG02895.hp2 HG02896.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19001.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0003 a0003c0004 a0011c0011 a0002c0003 a0003c0004 a0011c0011	a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0021 a0002c0003t0022 a0002c0003t0023 a0003c0004t0003 a0003c0004t0015 a0011c0011t0001	a0002c0003t0001g0134 a0002c0003t0002g0004 a0002c0003t0002g0106 others(64): Show a0002c0003t0001g0134 a0002c0003t0002g0004 a0002c0003t0002g0106 a0002c0003t0002g0107 a0002c0003t0002g0108 a0002c0003t0002g0109 a0002c0003t0002g0110 a0002c0003t0002g0111 a0002c0003t0002g0114 a0002c0003t0002g0115 a0002c0003t0002g0116 a0002c0003t0002g0117 a0002c0003t0002g0118 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0121 a0002c0003t0002g0122 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0128 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0135 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0002g0142 a0002c0003t0002g0143 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0149 a0002c0003t0002g0150 a0002c0003t0007g0112 a0002c0003t0007g0145 a0002c0003t0021g0113 a0002c0003t0022g0144 a0002c0003t0023g0138 a0003c0004t0003g0005 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0154 a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0015g0151 a0003c0004t0015g0155 a0011c0011t0001g0129	69	289	0.2388	36	c.122 others(45): Show c.1225_1260dupCCCAGGCAAGAAGTTCCCATGTGTACAGGCCCTGAA	p.Pro others(13): Show p.Pro409_Glu420dup	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	2/11	1367/5155	1261/2733	421/910		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170361220	A A	ATATATAT others(29): Show ATATATATATATATACACGTATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0087 a0004c0005t0001g0087	1	289	0.0035	36	c.228 others(55): Show c.2283+2916_2283+2917insCACGTATATATATATATACACGTATA TATATATATA		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170361242	A A	ATATATAT others(29): Show ATATATATATATATACGTGTATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0017 a0001c0009t0017	a0001c0009t0017g0093 a0001c0009t0017g0093	1	289	0.0035	36	c.228 others(55): Show c.2283+2936_2283+2937insTACGTGTATATATATATATATACGTA TATATATATA		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM135A_chr6_70408508_70566174	70411363	C C	CTCTATAT others(29): Show CTCTATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	268	0.0037	36	c.-25 others(47): Show c.-2559_-2558insTCTATATATATATATATATATATATATATATATA TA		FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding					2144		chr6	TogoVar
FAM135B_chr8_138125023_138502261	138314693	C C	CAATAAAT others(29): Show CAATAAATAAATAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0136 a0001c0005t0002g0136	1	212	0.0047	36	c.78- others(51): Show c.78-3774_78-3773insTATTTATTTATTTATTTATTTATTTATTTA TTTATT		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19						chr8	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03492.hp1 HG00558.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0064 a0001c0001t0002g0077	2	204	0.0098	36	c.508 others(53): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT ATATATAT		FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13						chr10	TogoVar
FAM149A_chr4_186099704_186180337	186136936	A A	ATCTCTCT others(29): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	390	0.0026	36	c.567 others(55): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTTCTCT		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(29): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0014 a0008c0013t0014	a0008c0013t0014g0144 a0008c0013t0014g0144	1	390	0.0026	36	c.567 others(55): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(29): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0014 a0008c0013t0014	a0008c0013t0014g0148 a0008c0013t0014g0148	1	390	0.0026	36	c.567 others(55): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCT		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186144924	G G	GGCGGGCG others(29): Show GGCGGGCGCGGGCGCGGGCGCGGGCGCGGGCGCGGGC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0341 a0003c0002t0004g0341	1	390	0.0026	36	c.567 others(53): Show c.567-4247_567-4212dupCGGGCGCGGGCGCGGGCGCGGGCGCGGG CGCGGGCG		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM153A_chr5_177718364_177787899	177723011	G G	GGAAGAGC others(29): Show GGAAGAGCTGCACGTTGAATATGCATAGCTTCCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18612.hp2 NA21309.hp1 HG03471.hp2 NA18612.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0004 a0001c0001 a0003c0005 a0004c0004	a0001c0001t0001 a0003c0005t0001 a0004c0004t0006 a0001c0001t0001 a0003c0005t0001 a0004c0004t0006	a0001c0001t0001g0011 a0003c0005t0001g0035 a0004c0004t0006g0025 a0001c0001t0001g0011 a0003c0005t0001g0035 a0004c0004t0006g0025	3	36	0.0833	36	c.10 others(47): Show c.1066_*1101dupTCCAGGAAGCTATGCATATTCAACGTGCAGCTCT TC		FAM153A	ENSG00000170074.21	transcript	ENST00000697116.2	protein_coding					352		chr5	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02300.hp2 HG03927.hp2 others(3): Show HG01943.hp1 HG02300.hp2 HG03927.hp2 HG04184.hp1 NA18973.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0020 a0001c0001 a0002c0002 a0002c0020	a0001c0001t0002 a0002c0002t0002 a0002c0020t0002 a0001c0001t0002 a0002c0002t0002 a0002c0020t0002	a0001c0001t0002g0231 a0002c0002t0002g0019 a0002c0002t0002g0041 others(3): Show a0001c0001t0002g0231 a0002c0002t0002g0019 a0002c0002t0002g0041 a0002c0002t0002g0241 a0002c0002t0002g0249 a0002c0020t0002g0245	6	400	0.0150	36	c.30 others(47): Show c.3092_*3093insATATATATATATATATATATATATATATATATAT AT		FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding					1485		chr2	TogoVar
FAM163A_chr1_179738291_179821198	179795958	C C	CTATTATT others(29): Show CTATTATTATTATTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0075 a0001c0001t0012g0075	1	226	0.0044	36	c.-13 others(57): Show c.-135-11818_-135-11817insATTATTATTATTATTATTATTATT ATTATTATTATT		FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM172A_chr5_93612725_94116663	94035232	T T	TATACATA others(29): Show TATACATATACATATACATATACATATACATATACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18964.hp1 HG03688.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0014 a0001c0001t0002g0019	2	126	0.0159	36	c.309 others(55): Show c.309+15498_309+15499insGTGTATATGTATATGTATATGTATAT GTATATGTAT		FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	4/10						chr5	TogoVar
FAM174B_chr15_92612448_92660775	92631357	A A	ATATATTA others(29): Show ATATATTATATATTATATTATATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	394	0.0025	36	c.345 others(53): Show c.345-1013_345-1012insATATATTATATATAATATAATATAATAT ATAATATA		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM177B_chr1_222732202_222756004	222741908	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0176 a0003c0003t0011g0176	1	400	0.0025	36	c.-16 others(53): Show c.-16+3887_-16+3888insCCTCCCTCCCTCCCTCCCTCTCTCTCTC TCTTTCTT		FAM177B	ENSG00000197520.11	transcript	ENST00000445590.4	protein_coding	2/5						chr1	TogoVar
FAM181B_chr11_82724940_82738864	82734160	T T	TGGGTGGT others(29): Show TGGGTGGTGCGGGGGGGGGGGCTCGGGGGGGCAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0000 a0002c0002t0012g0000	1	426	0.0024	36	c.-43 others(45): Show c.-432_-431insGCTCTGCCCCCCCGAGCCCCCCCCCCCGCACCACCC		FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding					297		chr11	TogoVar

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Search Results (Total: 8848 hits)