Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
F7_chr13_113100791_113125685	113108159	G G	GGCGTGGG others(12): Show GGCGTGGGTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18975.hp1 HG00544.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0124 a0001c0001t0001g0139	2	400	0.0050	19	c.64+ others(34): Show c.64+2254_64+2255insGCGTGGGTGTCCCGGGGGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7						chr13	TogoVar
F7_chr13_113100791_113125685	113108168	T T	TCCCGGGG others(12): Show TCCCGGGGGTCGTGGGTGTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	400	0.0025	19	c.64+ others(34): Show c.64+2269_64+2270insGGTCGTGGGTGTCCCCGGG		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp1 others(18): Show HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01257.hp1 HG01346.hp1 HG01928.hp1 HG02004.hp1 HG02080.hp1 HG02135.hp1 HG02293.hp2 HG02300.hp1 HG02735.hp1 HG03490.hp1 HG03927.hp1 NA18942.hp1 NA19000.hp1 NA19004.hp1 NA19076.hp1 NA19090.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0006 a0001c0001 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0010c0006t0008 a0001c0001t0001 a0001c0001t0002 a0010c0006t0008	a0001c0001t0001g0000 a0001c0001t0002g0000 a0010c0006t0008g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0010c0006t0008g0000	21	267	0.0787	19	c.89 others(28): Show c.890_*891insTTTTTTTTTTTTTTTTTTT		F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding					320		chrX	TogoVar
FAAH2_chrX_57281706_57494193	57334298	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0194	1	282	0.0036	19	c.622 others(36): Show c.622+2491_622+2492insCACACACACACACACACAC		FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	4/10						chrX	TogoVar
FAAH2_chrX_57281706_57494193	57347604	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0104 a0005c0006t0001g0104	1	282	0.0036	19	c.742 others(36): Show c.742+6229_742+6247dupTTTTTTTTTTTTTTTTTTT		FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
FADS2_chr11_61823300_61872354	61824502	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	280	0.0036	19	c.-38 others(30): Show c.-3889_-3888insAAAGAAAGAAAGAAAGAAA		FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding					3797		chr11	TogoVar
FADS6_chr17_74872302_74898633	74878160	G G	GCAGGTGG others(12): Show GCAGGTGGCCCCCAGACCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0018 a0007c0007t0018	a0007c0007t0018g0234 a0007c0007t0018g0234	1	440	0.0023	19	c.15 others(28): Show c.152_*170dupGGGGTCTGGGGGCCACCTG		FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	6/6				170		chr17	TogoVar
FADS6_chr17_74872302_74898633	74893515	A A	AGGTTCCA others(12): Show AGGTTCCATGGGCTCCGTAG	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0077 a0013c0019t0001g0077	1	440	0.0023	19	c.62_ others(24): Show c.62_80dupCTACGGAGCCCATGGAACC	p.Thr others(4): Show p.Thr28fs	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	118/2174	80/1107	27/368			chr17	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	190	0.0053	19	c.187 others(40): Show c.1870-16220_1870-16202dupTTTTTTTTTTTTTTTTTTT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50712248	A A	AATAACAA others(12): Show AATAACAACTAAATTAGACC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	190	0.0053	19	c.552 others(36): Show c.552-6376_552-6358dupGGTCTAATTTAGTTGTTAT		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	6/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50746292	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0061 a0001c0001t0037g0061	1	190	0.0053	19	c.368 others(36): Show c.368-1518_368-1517insAAAAAAAAATATATATATA		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	4/18						chr1	TogoVar
FAF1_chr1_50432028_50965267	50836170	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0120 a0001c0001t0036g0120	1	190	0.0053	19	c.114 others(38): Show c.114+21740_114+21758dupAAAAAAAAAAAAAAAAAAA		FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18						chr1	TogoVar
FAF2_chr5_176443385_176515074	176444286	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0274 a0001c0001t0005g0274	1	372	0.0027	19	c.-41 others(30): Show c.-4122_-4121insAAATAAAATAAAATAAAAT		FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding					4098		chr5	TogoVar
FAHD1_chr16_1822206_1833910	1826522	C C	CCCGCGGC others(12): Show CCCGCGGCCCCGCGCCCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02572.hp1 others(13): Show HG01891.hp2 HG02055.hp2 HG02572.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0004 a0001c0006t0022 a0001c0004t0004 a0001c0006t0004 a0001c0006t0022	a0001c0004t0004g0000 a0001c0006t0004g0000 a0001c0006t0022g0000 a0001c0004t0004g0000 a0001c0006t0004g0000 a0001c0006t0022g0000	16	448	0.0357	19	c.-71 others(28): Show c.-717_-716insCCGCGGCCCCGCGCCCGCT		FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding					683		chr16	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(12): Show ACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02055.hp2 HG02135.hp2 others(14): Show HG02040.hp1 HG02055.hp2 HG02135.hp2 HG02145.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp1 HG02818.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp2 HG03942.hp1 HG04184.hp1 NA19030.hp2 NA19079.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0004 a0001c0004t0009 a0002c0003t0002 a0001c0004t0004 a0001c0004t0009 a0002c0003t0002	a0001c0004t0004g0000 a0001c0004t0009g0000 a0002c0003t0002g0000 a0001c0004t0004g0000 a0001c0004t0009g0000 a0002c0003t0002g0000	17	448	0.0380	19	c.30 others(30): Show c.3040_*3041insCACACACACCCCACCCACC		FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding					2035		chr16	TogoVar
FAHD1_chr16_1822206_1833910	1830945	C C	CACACACA others(12): Show CACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	19	c.30 others(30): Show c.3041_*3042insACACACACACACACACACA		FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding					2036		chr16	TogoVar
FAM104A_chr17_73202365_73237394	73207092	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0350 a0001c0002t0006g0350	1	400	0.0025	19	c.24 others(30): Show c.2418_*2436dupTTTTTTTTTTTTTTTTTTT		FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding					272		chr17	TogoVar
FAM107B_chr10_14513557_14779897	14572736	A A	ATTTATAT others(12): Show ATTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA20129.hp2 HG03704.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0119 a0001c0001t0010g0095 a0001c0001t0001g0119 a0001c0001t0010g0095	2	272	0.0074	19	c.470 others(38): Show c.470-42222_470-42221insATATATATATATATATAAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(12): Show GTTTTTTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0086 a0001c0001t0010g0086	1	272	0.0037	19	c.469 others(38): Show c.469+39521_469+39522insAAAACAAAACAAAAAAAAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(12): Show GTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01975.hp2 others(20): Show HG00544.hp2 HG00558.hp2 HG01975.hp2 HG02040.hp1 HG02074.hp1 HG02615.hp1 HG03017.hp1 HG03491.hp1 NA18939.hp1 NA18951.hp2 NA18966.hp2 NA18971.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18999.hp2 NA19011.hp2 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0025 a0001c0001t0032 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0005t0027	a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0187 others(20): Show a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0002g0059 a0001c0001t0002g0199 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0003g0027 a0001c0001t0003g0070 a0001c0001t0003g0133 a0001c0001t0007g0068 a0001c0001t0007g0123 a0001c0001t0010g0225 a0001c0001t0025g0087 a0001c0001t0032g0232 a0001c0003t0002g0118 a0002c0002t0001g0250 a0002c0002t0002g0251 a0002c0002t0002g0263 a0002c0002t0003g0255 a0002c0002t0010g0259 a0002c0005t0027g0258	23	272	0.0846	19	c.469 others(38): Show c.469+39521_469+39522insAAAAAAAAACAAAAAAAAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19066.hp1 NA19058.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0115 a0002c0002t0001g0243 a0001c0001t0003g0115 a0002c0002t0001g0243	2	272	0.0074	19	c.469 others(38): Show c.469+39503_469+39521dupAAAAAAAAAAAAAAAAAAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14628119	T T	TTTGTTTT others(12): Show TTTGTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	272	0.0037	19	c.469 others(38): Show c.469+39514_469+39515insCAAAAAAAAAAAAAAACAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14734488	G G	GTGTTTTT others(12): Show GTGTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	272	0.0037	19	c.411 others(38): Show c.411+39764_411+39765insAAAAAAAAAAACAAAAACA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14755441	T T	TGAGATGG others(12): Show TGAGATGGGAGAATTGCTTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	272	0.0037	19	c.411 others(38): Show c.411+18793_411+18811dupCAAGCAATTCTCCCATCTC		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4						chr10	TogoVar
FAM107B_chr10_14513557_14779897	14779602	T T	TTTCTCTC others(12): Show TTTCTCTCATATGCAACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	272	0.0037	19	c.-49 others(30): Show c.-4940_-4939insCTTGTTGCATATGAGAGAA		FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding					4706		chr10	TogoVar
FAM110B_chr8_57989523_58153784	58006923	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp1 HG01891.hp1 HG00733.hp1 HG01496.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0267 a0001c0001t0004g0194 a0001c0001t0010g0160 a0001c0001t0001g0267 a0001c0001t0004g0194 a0001c0001t0010g0160	3	300	0.0100	19	c.-51 others(40): Show c.-512+12118_-512+12119insATATATATTTTTTTTTTTT		FAM110B	ENSG00000169122.12	transcript	ENST00000519262.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM114A2_chr5_153985148_154043910	154031312	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02155.hp1 NA18963.hp1 others(6): Show HG00438.hp2 HG02155.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0006 a0001c0001t0006 a0001c0006t0006	a0001c0001t0006g0012 a0001c0001t0006g0118 a0001c0001t0006g0120 others(3): Show a0001c0001t0006g0012 a0001c0001t0006g0118 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0006t0006g0119	9	344	0.0262	19	c.404 others(36): Show c.404-1733_404-1732insTTTTTTTTTTTTTTTTTTT		FAM114A2	ENSG00000055147.19	transcript	ENST00000351797.9	protein_coding	4/13						chr5	TogoVar
FAM117B_chr2_202629969_202774757	202694188	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02615.hp2 others(2): Show HG01243.hp1 HG02451.hp2 HG02615.hp2 HG02970.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0016 a0002c0002t0105 a0002c0002t0109 others(1): Show a0002c0002t0016 a0002c0002t0105 a0002c0002t0109 a0002c0005t0016	a0002c0002t0016g0295 a0002c0002t0016g0296 a0002c0002t0105g0314 others(2): Show a0002c0002t0016g0295 a0002c0002t0016g0296 a0002c0002t0105g0314 a0002c0002t0109g0299 a0002c0005t0016g0297	5	318	0.0157	19	c.602 others(36): Show c.602-1690_602-1672dupTTTTTTTTTTTTTTTTTTT		FAM117B	ENSG00000138439.12	transcript	ENST00000392238.3	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM118B_chr11_126206782_126267968	126214490	G G	GTTTTGTT others(12): Show GTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	346	0.0029	19	c.-77 others(36): Show c.-77+2664_-77+2665insGTTTTTTTTTTTTTTTTTT		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126214490	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02965.hp1 HG02273.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0215 a0001c0001t0001g0176 a0001c0001t0001g0215	2	346	0.0058	19	c.-77 others(36): Show c.-77+2672_-77+2673insTTTTTTTTTTTTTTTTTTT		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126219349	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18970.hp2 NA18953.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0331 a0001c0001t0001g0324 a0001c0001t0001g0331	2	346	0.0058	19	c.-77 others(36): Show c.-77+7541_-77+7559dupTTTTTTTTTTTTTTTTTTT		FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM120A_chr9_93446685_93571112	93545780	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19064.hp2 HG02155.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0084 a0001c0001t0004g0037 a0001c0001t0003g0084 a0001c0001t0004g0037	2	318	0.0063	19	c.215 others(38): Show c.2159+2317_2159+2335dupTTTTTTTTTTTTTTTTTTT		FAM120A	ENSG00000048828.18	transcript	ENST00000277165.11	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM120B_chr6_170301758_170412067	170407726	C C	CAGACAAA others(12): Show CAGACAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01243.hp1 others(8): Show HG00323.hp2 HG01069.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp2 HG02602.hp2 HG03041.hp1 HG03834.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0026 a0001c0002t0001 a0001c0002t0024	a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0005g0219 others(8): Show a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0005g0219 a0001c0001t0005g0221 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0014g0212 a0001c0001t0014g0226 a0001c0001t0026g0223 a0001c0002t0001g0031 a0001c0002t0024g0030	11	289	0.0381	19	c.29 others(30): Show c.2975_*2976insAGACAAAAAAAAAAAAAAA		FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding					660		chr6	TogoVar
FAM131A_chr3_184332600_184351275	184338666	G G	GAGGCCGC others(12): Show GAGGCCGCCCCCGTGCCGGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	448	0.0022	19	c.231 others(34): Show c.231+138_231+156dupAGGCCGCCCCCGTGCCGGT		FAM131A	ENSG00000175182.15	transcript	ENST00000383847.7	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM133B_chr7_92555758_92595390	92582293	C C	CATAACAT others(12): Show CATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01192.hp1 others(15): Show HG00323.hp2 HG00544.hp2 HG01192.hp1 HG01243.hp2 HG01517.hp1 HG02451.hp2 HG02717.hp2 HG02895.hp2 HG03041.hp1 HG03471.hp2 NA18522.hp2 NA18952.hp1 NA18960.hp1 NA18981.hp2 NA19060.hp1 NA19068.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0031 a0001c0001t0001g0188 a0001c0001t0001g0200 others(14): Show a0001c0001t0001g0031 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0005g0217 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0011g0216 a0001c0001t0013g0098 a0001c0001t0016g0226 a0001c0001t0017g0234	18	328	0.0549	19	c.25- others(32): Show c.25-691_25-690insTTATGTTATGTTATGTTAT		FAM133B	ENSG00000234545.8	transcript	ENST00000445716.6	protein_coding	1/10						chr7	TogoVar
FAM135B_chr8_138125023_138502261	138159278	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01071.hp1 others(35): Show HG00423.hp1 HG01069.hp1 HG01071.hp1 HG01169.hp2 HG01255.hp1 HG01261.hp1 HG01891.hp1 HG01934.hp2 HG01993.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03831.hp1 NA18612.hp1 NA18612.hp2 NA18960.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18982.hp1 NA19002.hp1 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0011	a0001c0005 a0001c0007 a0001c0015 others(6): Show a0001c0005 a0001c0007 a0001c0015 a0001c0017 a0002c0002 a0002c0008 a0003c0001 a0010c0027 a0011c0024	a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 others(15): Show a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0026 a0001c0007t0001 a0001c0015t0008 a0001c0017t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0012 a0002c0002t0032 a0002c0008t0001 a0003c0001t0002 a0003c0001t0004 a0010c0027t0001 a0011c0024t0001	a0001c0005t0001g0057 a0001c0005t0001g0090 a0001c0005t0002g0151 others(35): Show a0001c0005t0001g0057 a0001c0005t0001g0090 a0001c0005t0002g0151 a0001c0005t0002g0179 a0001c0005t0005g0188 a0001c0005t0005g0192 a0001c0005t0026g0120 a0001c0007t0001g0047 a0001c0015t0008g0129 a0001c0017t0002g0146 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0049 a0002c0002t0001g0070 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0002g0132 a0002c0002t0005g0202 a0002c0002t0005g0204 a0002c0002t0005g0209 a0002c0002t0009g0164 a0002c0002t0012g0122 a0002c0002t0012g0124 a0002c0002t0032g0134 a0002c0008t0001g0043 a0003c0001t0002g0169 a0003c0001t0004g0055 a0003c0001t0004g0081 a0003c0001t0004g0088 a0010c0027t0001g0079 a0011c0024t0001g0014	38	212	0.1793	19	c.125 others(38): Show c.1259-6063_1259-6062insTTTTTTTTTTTTTTTTTTT		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	12/19						chr8	TogoVar
FAM135B_chr8_138125023_138502261	138336437	C C	CCCACAGA others(12): Show CCCACAGAAATAAAAACTAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0007 a0003c0001t0007	a0003c0001t0007g0051 a0003c0001t0007g0051	1	212	0.0047	19	c.78- others(36): Show c.78-25518_78-25517insATAGTTTTTATTTCTGTGG		FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	2/19						chr8	TogoVar
FAM13A_chr4_88720960_89062185	89025245	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	208	0.0048	19	c.217 others(36): Show c.217+4196_217+4214dupAAAAAAAAAAAAAAAAAAA		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	2/23						chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0091 a0001c0003t0004g0091	1	208	0.0048	19	c.-46 others(30): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAA		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding					4425		chr4	TogoVar
FAM13B_chr5_137932960_138038079	137975980	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 NA21309.hp1 HG01516.hp1 HG01517.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270	3	322	0.0093	19	c.117 others(38): Show c.1179+9276_1179+9277insAAAAAAAAAAAAAAAAAAA		FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23						chr5	TogoVar
FAM13B_chr5_137932960_138038079	138034995	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	322	0.0031	19	c.-24 others(30): Show c.-2435_-2417dupAAAAAAAAAAAAAAAAAAA		FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding					1917		chr5	TogoVar
FAM149A_chr4_186099704_186180337	186130263	A A	ATCTCTCT others(12): Show ATCTCTCTCTCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0318 a0002c0004t0010g0318	1	390	0.0026	19	c.567 others(38): Show c.567-18900_567-18899insCTCTCTCTCTCTCTCTCTC		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186153126	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0065 a0013c0027t0065	a0013c0027t0065g0198 a0013c0027t0065g0198	1	390	0.0026	19	c.960 others(34): Show c.960-518_960-517insCCCCCCCCCCCCCCCCCCC		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM161B_chr14_73927276_73955094	73943819	C C	CCATGGCA others(12): Show CCATGGCACAGTGCCTGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 HG02145.hp2 others(12): Show HG01891.hp2 HG02015.hp1 HG02145.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG04184.hp2 HG06807.hp1 NA18966.hp1 NA18977.hp1 NA18995.hp1 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0004c0006t0003 a0004c0006t0020 a0001c0001t0003 a0004c0006t0003 a0004c0006t0020	a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0003g0128 others(5): Show a0001c0001t0003g0026 a0001c0001t0003g0040 a0001c0001t0003g0128 a0004c0006t0003g0021 a0004c0006t0003g0030 a0004c0006t0003g0031 a0004c0006t0003g0053 a0004c0006t0020g0054	15	442	0.0339	19	c.925 others(34): Show c.925+497_925+515dupCTCCAGGCACTGTGCCATG		FAM161B	ENSG00000156050.10	transcript	ENST00000286544.5	protein_coding	3/8						chr14	TogoVar
FAM162B_chr6_116747197_116770719	116749619	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	474	0.0021	19	c.29 others(30): Show c.2977_*2978insGATAGATAGATAGATAGAT		FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding					2577		chr6	TogoVar
FAM163B_chr9_133572081_133614389	133590065	C C	CCCTTCCC others(12): Show CCCTTCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0135 a0001c0001t0024g0135	1	382	0.0026	19	c.-23 others(36): Show c.-23-9820_-23-9819insAAGGGAAGGGAAGGGAAGG		FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2						chr9	TogoVar
FAM163B_chr9_133572081_133614389	133610255	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	382	0.0026	19	c.-12 others(30): Show c.-1203_-1202insAAAAAAAAAAAAAAAAAAA		FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding					867		chr9	TogoVar
FAM167A_chr8_11416476_11471753	11444955	C C	CATTTTAA others(12): Show CATTTTAATGCCTTAATGCA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	374	0.0027	19	c.-39 others(36): Show c.-397-148_-397-147insTGCATTAAGGCATTAAAAT		FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2						chr8	TogoVar
FAM167B_chr1_32242222_32253856	32243103	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG02145.hp2 others(5): Show HG00735.hp2 HG01255.hp2 HG02145.hp2 HG02615.hp1 HG02895.hp1 HG03139.hp1 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	8	378	0.0212	19	c.-43 others(30): Show c.-4319_-4318insTTATTTATTTATTTATTTA		FAM167B	ENSG00000183615.6	transcript	ENST00000373582.4	protein_coding					4118		chr1	TogoVar
FAM168A_chr11_73395487_73603112	73445419	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	180	0.0056	19	c.71- others(36): Show c.71-14668_71-14650dupAAAAAAAAAAAAAAAAAAA		FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	2/7						chr11	TogoVar

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