Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FGD5_chr3_14813962_14939571	14844214	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 HG03516.hp2 HG02717.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0004 a0001c0001t0001 a0001c0008t0004	a0001c0001t0001g0237 a0001c0008t0004g0046 a0001c0008t0004g0047 a0001c0001t0001g0237 a0001c0008t0004g0046 a0001c0008t0004g0047	3	342	0.0088	-37	c.252 others(58): Show c.2526-19912_2526-19876delAAATATATATATATATATATATAT ATATATATATATA	FGD5	ENSG00000154783.12	transcript	ENST00000285046.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
FGF14_chr13_101705804_101921945	101850490	ATATATAT others(30): Show ATATATATATATATATATATATATAGAATTATATATTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18962.hp1 NA19065.hp2 HG00280.hp1 NA18962.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0107 a0001c0001t0022 a0001c0001t0107	a0001c0001t0022g0195 a0001c0001t0022g0196 a0001c0001t0107g0175 a0001c0001t0022g0195 a0001c0001t0022g0196 a0001c0001t0107g0175	3	266	0.0113	-37	c.408 others(56): Show c.408+18198_408+18234delGAATATATAATTCTATATATATATAT ATATATATATA	FGF14	ENSG00000102466.17	transcript	ENST00000376143.5	protein_coding	3/4			chr13	TogoVar
FGF21_chr19_48750524_48763330	48756488	GCCTGGGT others(30): Show GCCTGGGTCTGAGGGAGGAGGGGCTGTGGGTCTGGATT	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	456	0.0022	-37	c.235 others(50): Show c.235+43_235+79delTGGGTCTGGATTCCTGGGTCTGAGGGAGGAGG GGCTG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF21_chr19_48750524_48763330	48756562	CCCTGGGT others(30): Show CCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGGACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(289): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0011 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001 a0003c0011t0001 a0005c0009t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0071 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0004g0007 a0001c0001t0004g0026 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0002t0001g0011 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0067 a0003c0011t0001g0010 a0005c0009t0002g0001	292	456	0.6404	-37	c.235 others(52): Show c.235+126_235+162delACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GATCTGG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF21_chr19_48750524_48763330	48757578	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0030 a0001c0007t0001g0030	2	456	0.0044	-37	c.340 others(52): Show c.340-323_340-287delGCCTGGACCCCTGGGTCTGAGGGAGGAGGG GCTGGGG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF7_chr15_49418242_49493775	49489850	TATATATA others(30): Show TATATATATTTTATATATATATATATATATATATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	358	0.0028	-37	c.53 others(48): Show c.5347_*5383delATATATATTTTATATATATATATATATATATATA GAG	FGF7	ENSG00000140285.12	transcript	ENST00000267843.9	protein_coding		1076		chr15	TogoVar
FHOD3_chr18_36292713_36785220	36371805	GGAGAGAG others(30): Show GGAGAGAGGTGAGGATGGACAGGGAATCCCGCTTCCAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02965.hp2 HG01496.hp2 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0091 a0003c0003t0001g0090 a0002c0002t0001g0091 a0003c0003t0001g0090	2	168	0.0119	-37	c.273 others(52): Show c.273-871_273-835delAGAGGTGAGGATGGACAGGGAATCCCGCTT CCAAGAG	FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FKBP9_chr7_32952440_33011928	32961982	TAAATTTG others(30): Show TAAATTTGATGTATCTGAATAATCCCAAAACCATCCCC	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0376 a0001c0001t0004g0376	1	430	0.0023	-37	c.221 others(54): Show c.221+4189_221+4225delAAATTTGATGTATCTGAATAATCCCAAA ACCATCCCC	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	1/9			chr7	TogoVar
FMN2_chr1_240086883_240480187	240101498	GTGTGTGT others(30): Show GTGTGTGTGTATGTGTGTGTGTGCCTGTGTGTCTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0070 a0070	a0070c0113 a0070c0113	a0070c0113t0003 a0070c0113t0003	a0070c0113t0003g0139 a0070c0113t0003g0139	1	174	0.0058	-37	c.161 others(56): Show c.1615+7784_1615+7820delATGTGTGTGTGTGCCTGTGTGTCTGT GTTGTGTGTGT	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FNDC11_chr20_63549159_63561695	63559442	CAGGGTCA others(30): Show CAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(34): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02683.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03516.hp2 HG04228.hp1 NA18939.hp1 NA18942.hp2 NA18953.hp2 NA18957.hp2 NA18983.hp2 NA18986.hp2 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0002t0001g0002 a0001c0003t0001g0002 a0001c0004t0001g0002 a0001c0006t0001g0002	37	416	0.0889	-37	c.28 others(48): Show c.2823_*2859delAGGGTCAGGTGGGAGTCAGTCAGGGTCAGGTGGG AGG	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2748		chr20	TogoVar
FNDC11_chr20_63549159_63561695	63559639	AGGAGTCA others(30): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02145.hp1 HG02145.hp2 others(8): Show HG00323.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp2 NA18942.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0003t0001g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0003t0001g0002 a0001c0005t0001g0003	11	416	0.0264	-37	c.30 others(48): Show c.3020_*3056delGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTC	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2945		chr20	TogoVar
FOLH1_chr11_49140092_49213602	49211540	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00597.hp1 others(91): Show HG00099.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0013 a0002c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0226 a0001c0001t0001g0230 others(85): Show a0001c0001t0001g0020 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0002c0002t0001g0025 a0002c0002t0001g0245 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0316 a0002c0002t0003g0248 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0002g0049 a0002c0003t0013g0046 a0002c0011t0001g0312	94	374	0.2513	-37	c.-31 others(48): Show c.-3168_-3132delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	FOLH1	ENSG00000086205.18	transcript	ENST00000256999.7	protein_coding		2939		chr11	TogoVar
FOLR1_chr11_72187140_72201299	72192402	TGGAAATG others(30): Show TGGAAATGCCAAACCCCATTCACTGGTGAACTGAAGTG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	412	0.0024	-37	c.168 others(50): Show c.168+63_168+99delGAAATGCCAAACCCCATTCACTGGTGAACTGA AGTGG	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXN4_chr12_109272978_109314284	109304258	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	368	0.0027	-37	c.86+ others(52): Show c.86+3941_86+3977delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	FOXN4	ENSG00000139445.18	transcript	ENST00000299162.10	protein_coding	2/9			chr12	TogoVar
FOXP4_chr6_41541381_41607384	41582155	GAATTTAA others(30): Show GAATTTAATGGCGTACAAGTCACTTTCACCCCTGCTCC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0126 a0001c0002t0003g0126	1	356	0.0028	-37	c.301 others(54): Show c.301-2613_301-2577delAATTTAATGGCGTACAAGTCACTTTCAC CCCTGCTCC	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding	3/16			chr6	TogoVar
FREM2_chr13_38682077_38892131	38813481	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03130.hp2 HG00558.hp2 HG03130.hp2	a0002 a0008 a0002 a0008	a0002c0011 a0008c0051 a0002c0011 a0008c0051	a0002c0011t0035 a0008c0051t0003 a0002c0011t0035 a0008c0051t0003	a0002c0011t0035g0227 a0008c0051t0003g0120 a0002c0011t0035g0227 a0008c0051t0003g0120	2	262	0.0076	-37	c.601 others(58): Show c.6019+28711_6019+28747delCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTC	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FRMD1_chr6_168048095_168084212	168058268	CCAGCCTC others(30): Show CCAGCCTCCCGTGCCCAGCCCTGTTCTCTCTCTCCATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(253): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0021 a0001c0025 a0003c0006 a0003c0022 a0004c0008 a0005c0009 a0006c0013 a0007c0017 a0010c0020 a0011c0018 a0012c0016	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(47): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0020 a0001c0002t0025 a0001c0002t0050 a0001c0002t0060 a0001c0002t0067 a0001c0004t0004 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0019 a0001c0004t0049 a0001c0004t0053 a0001c0004t0054 a0001c0004t0056 a0001c0004t0059 a0001c0007t0025 a0001c0007t0068 a0001c0010t0024 a0001c0010t0070 a0001c0012t0002 a0001c0012t0051 a0001c0021t0001 a0001c0025t0033 a0003c0006t0013 a0003c0022t0027 a0004c0008t0009 a0004c0008t0052 a0005c0009t0002 a0006c0013t0002 a0007c0017t0055 a0010c0020t0011 a0011c0018t0057 a0012c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(138): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0011g0014 a0001c0001t0017g0111 a0001c0001t0018g0032 a0001c0001t0035g0098 a0001c0001t0040g0191 a0001c0001t0041g0151 a0001c0001t0042g0109 a0001c0001t0043g0197 a0001c0001t0044g0138 a0001c0001t0045g0108 a0001c0001t0046g0139 a0001c0001t0047g0148 a0001c0001t0048g0149 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0172 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0198 a0001c0002t0004g0122 a0001c0002t0004g0179 a0001c0002t0009g0012 a0001c0002t0009g0105 a0001c0002t0009g0128 a0001c0002t0020g0118 a0001c0002t0020g0125 a0001c0002t0025g0227 a0001c0002t0050g0121 a0001c0002t0060g0123 a0001c0002t0067g0228 a0001c0004t0004g0007 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0112 a0001c0004t0004g0113 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0162 a0001c0004t0004g0164 a0001c0004t0004g0165 a0001c0004t0004g0169 a0001c0004t0004g0186 a0001c0004t0004g0196 a0001c0004t0010g0154 a0001c0004t0010g0155 a0001c0004t0014g0115 a0001c0004t0014g0170 a0001c0004t0014g0171 a0001c0004t0017g0144 a0001c0004t0019g0124 a0001c0004t0019g0200 a0001c0004t0049g0166 a0001c0004t0053g0167 a0001c0004t0054g0101 a0001c0004t0056g0168 a0001c0004t0059g0161 a0001c0007t0025g0225 a0001c0007t0068g0206 a0001c0010t0024g0056 a0001c0010t0070g0235 a0001c0012t0002g0044 a0001c0012t0051g0180 a0001c0021t0001g0104 a0001c0025t0033g0097 a0003c0006t0013g0094 a0003c0006t0013g0095 a0003c0022t0027g0057 a0004c0008t0009g0020 a0004c0008t0052g0126 a0005c0009t0002g0011 a0006c0013t0002g0045 a0007c0017t0055g0163 a0010c0020t0011g0150 a0011c0018t0057g0114 a0012c0016t0002g0178	256	402	0.6368	-37	c.140 others(54): Show c.1407+819_1407+855delCATGGAGAGAGAGAACAGGGCTGGGCAC GGGAGGCTG	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	10/10			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83272613	GAAGTGAG others(30): Show GAAGTGAGGAGCGCCTCTGCCCGGCTGCCCAGTCTGGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp1 others(65): Show HG00140.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA19005.hp2 NA19064.hp1 NA19074.hp1 NA19084.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0051 a0001c0001t0056 a0001c0001t0059 a0001c0001t0063 a0001c0002t0003 a0001c0002t0023 a0001c0002t0028 a0001c0002t0032 a0001c0002t0066 a0002c0003t0008 a0003c0006t0001 a0004c0007t0021	a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0193 others(65): Show a0001c0001t0001g0145 a0001c0001t0001g0163 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0172 a0001c0001t0002g0182 a0001c0001t0002g0187 a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0005g0131 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0076 a0001c0001t0006g0080 a0001c0001t0008g0005 a0001c0001t0008g0011 a0001c0001t0008g0021 a0001c0001t0011g0017 a0001c0001t0011g0018 a0001c0001t0012g0109 a0001c0001t0013g0149 a0001c0001t0013g0167 a0001c0001t0015g0153 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0018g0097 a0001c0001t0019g0223 a0001c0001t0024g0137 a0001c0001t0026g0116 a0001c0001t0026g0117 a0001c0001t0033g0003 a0001c0001t0034g0002 a0001c0001t0035g0001 a0001c0001t0036g0004 a0001c0001t0039g0092 a0001c0001t0041g0059 a0001c0001t0042g0042 a0001c0001t0051g0012 a0001c0001t0056g0162 a0001c0001t0059g0156 a0001c0001t0063g0175 a0001c0002t0003g0010 a0001c0002t0023g0064 a0001c0002t0023g0081 a0001c0002t0028g0155 a0001c0002t0028g0157 a0001c0002t0032g0112 a0001c0002t0066g0191 a0002c0003t0008g0077 a0003c0006t0001g0183 a0004c0007t0021g0013	68	242	0.2810	-37	c.119 others(58): Show c.1195+17953_1195+17989delACCAGACTGGGCAGCCGGGCAGAG GCGCTCCTCACTT	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	13/13			chr9	TogoVar
FRMD4B_chr3_69163782_69391088	69279673	TCCTCCTC others(30): Show TCCTCCTCCTCCTCCTCCCCTCCTCCTTCTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	224	0.0045	-37	c.501 others(54): Show c.501+8042_501+8078delGGAAGAGGAGAAGGAGGAGGGGAGGAGG AGGAGGAGG	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRMD4B_chr3_69163782_69391088	69279750	TCCCCTCC others(30): Show TCCCCTCCTCCTTCTCCTCCTCCCCTCCTCCTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02809.hp1 others(2): Show HG01243.hp2 HG02559.hp1 HG02809.hp1 HG03209.hp2 HG03453.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0005 a0004c0006 a0002c0002 a0003c0005 a0004c0006	a0002c0002t0002 a0002c0002t0013 a0003c0005t0009 others(2): Show a0002c0002t0002 a0002c0002t0013 a0003c0005t0009 a0003c0005t0020 a0004c0006t0007	a0002c0002t0002g0036 a0002c0002t0013g0039 a0003c0005t0009g0193 others(2): Show a0002c0002t0002g0036 a0002c0002t0013g0039 a0003c0005t0009g0193 a0003c0005t0020g0138 a0004c0006t0007g0038	5	224	0.0223	-37	c.501 others(54): Show c.501+7965_501+8001delGAGGAGAGGAGGAGGGGAGGAGGAGAAG GAGGAGGGG	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	5/22			chr3	TogoVar
FRS2_chr12_69465388_69584793	69538212	TATATATA others(30): Show TATATATATATAGCATTGCAGATTATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20300.hp1 HG02615.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0266 a0001c0001t0002g0267	2	342	0.0059	-37	c.-12 others(56): Show c.-122+6168_-122+6204delGCATTGCAGATTATATATATATATAC ATATATATATA	FRS2	ENSG00000166225.9	transcript	ENST00000549921.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FSHR_chr2_48957157_49159515	49127861	TCTTCTTC others(30): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03516.hp1 HG01433.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0273 a0002c0002t0006g0271 a0002c0002t0001g0273 a0002c0002t0006g0271	2	350	0.0057	-37	c.152 others(56): Show c.152+26368_152+26404delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FUT1_chr19_48743011_48757641	48756488	GCCTGGGT others(30): Show GCCTGGGTCTGAGGGAGGAGGGGCTGTGGGTCTGGATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	438	0.0023	-37	c.-40 others(48): Show c.-4038_-4002delAATCCAGACCCACAGCCCCTCCTCCCTCAGACCC AGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		3848		chr19	TogoVar
FUT1_chr19_48743011_48757641	48756562	CCCTGGGT others(30): Show CCCTGGGTCTGAGGGAGGAGGGGCTGGGGATCTGGACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(280): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0007 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0040 a0001c0003t0006 a0001c0003t0024 a0001c0004t0006 a0002c0002t0001 a0002c0002t0008 a0002c0002t0013 a0002c0002t0036 a0003c0007t0002 a0004c0006t0007 a0005c0005t0005	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0056 a0001c0001t0003g0007 a0001c0001t0003g0030 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0070 a0001c0001t0005g0004 a0001c0001t0005g0037 a0001c0001t0005g0084 a0001c0001t0006g0066 a0001c0001t0007g0034 a0001c0001t0008g0017 a0001c0001t0008g0074 a0001c0001t0009g0012 a0001c0001t0010g0013 a0001c0001t0012g0027 a0001c0001t0012g0065 a0001c0001t0013g0039 a0001c0001t0014g0031 a0001c0001t0014g0061 a0001c0001t0015g0033 a0001c0001t0018g0029 a0001c0001t0020g0068 a0001c0001t0021g0052 a0001c0001t0025g0046 a0001c0001t0027g0069 a0001c0001t0028g0044 a0001c0001t0030g0089 a0001c0001t0031g0045 a0001c0001t0035g0055 a0001c0001t0040g0091 a0001c0003t0006g0009 a0001c0003t0006g0050 a0001c0003t0006g0081 a0001c0003t0024g0063 a0001c0004t0006g0043 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0021 a0002c0002t0001g0085 a0002c0002t0008g0080 a0002c0002t0013g0060 a0002c0002t0036g0067 a0003c0007t0002g0047 a0004c0006t0007g0073 a0005c0005t0005g0048	283	438	0.6461	-37	c.-41 others(48): Show c.-4112_-4076delAGTCCAGATCCCCAGCCCCTCCTCCCTCAGACCC AGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		3922		chr19	TogoVar
FUT1_chr19_48743011_48757641	48757578	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0028 a0001c0001t0017g0028	2	438	0.0046	-37	c.-51 others(48): Show c.-5128_-5092delGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		4938		chr19	TogoVar
FUT8_chr14_65407730_65749121	65716840	TTCCCAGA others(30): Show TTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20129.hp2 HG01123.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0054 a0001c0001t0002g0031 a0001c0001t0002g0054	2	374	0.0054	-37	c.836 others(54): Show c.836-4902_836-4866delTCACCTCCCAGACGGGGCGGCCGGGCAG AGGCGCTCC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FYN_chr6_111655332_111878452	111670599	GGAATGAC others(30): Show GGAATGACTACAGAAAAAGAGTTATGAAGAACTATGTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02717.hp2 others(6): Show HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0146 others(6): Show a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0006g0216 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0004t0001g0105	9	234	0.0385	-37	c.140 others(56): Show c.1405+3863_1405+3899delTACATAGTTCTTCATAACTCTTTTTC TGTAGTCATTC	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	13/13			chr6	TogoVar
GABRB3_chr15_26538552_26778066	26764164	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18990.hp2 HG04204.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0162 a0001c0001t0004g0154 a0001c0001t0001g0162 a0001c0001t0004g0154	2	204	0.0098	-37	c.240 others(54): Show c.240+8201_240+8237delATATATATATATATATATATATTTTTTT TTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764166	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18968.hp1 NA18969.hp1 others(1): Show HG01496.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0158 a0001c0001t0002g0153 a0001c0001t0002g0170 others(1): Show a0001c0001t0001g0158 a0001c0001t0002g0153 a0001c0001t0002g0170 a0001c0004t0002g0169	4	204	0.0196	-37	c.240 others(54): Show c.240+8199_240+8235delATATATATATATATATATATATATTTTT TTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764170	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	204	0.0049	-37	c.240 others(54): Show c.240+8195_240+8231delATATATATATATATATATATATATATAT TTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRD_chr1_2014345_2035758	2026020	TTAACCTT others(30): Show TTAACCTTTTTAAAGTGAACAATTCAGTGGCATTTGGC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	364	0.0028	-37	c.470 others(52): Show c.470+283_470+319delTAACCTTTTTAAAGTGAACAATTCAGTGGC ATTTGGC	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding	4/8			chr1	TogoVar
GAGE12F_chrX_49555842_49573205	49559953	GATCTGGC others(30): Show GATCTGGCCAGCTCAGCCTCCCAAAATACTAGGATTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	99	0.0101	-37	c.-10 others(47): Show c.-1004_-968delATCTGGCCAGCTCAGCCTCCCAAAATACTAGGATT AC	GAGE12F	ENSG00000236362.9	transcript	ENST00000440137.2	protein_coding		888		chrX	TogoVar
GAK_chr4_844277_937316	919175	GCTCCAAA others(30): Show GCTCCAAAGGTCTCAGTGTTGCATGACCTTAGCAGGAC	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	390	0.0026	-37	c.146 others(54): Show c.146-5544_146-5508delGTCCTGCTAAGGTCATGCAACACTGAGA CCTTTGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807816	CCCCCTCA others(30): Show CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0044 a0003c0007t0001g0044	1	314	0.0032	-37	c.36 others(48): Show c.3651_*3687delCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3530		chr2	TogoVar
GALNS_chr16_88808734_88861947	88855028	CACGGCCT others(30): Show CACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	404	0.0025	-37	c.120 others(54): Show c.120+1693_120+1729delCCCTACGTTTCCATAGGACAGCAAGGGT TCAGGCCGT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	1/13			chr16	TogoVar
GALNT16_chr14_69255158_69359466	69296777	GATGATAG others(30): Show GATGATAGAGATAGACAGACAGATAGAGCTAGATAGAT	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	306	0.0033	-37	c.178 others(56): Show c.178-23932_178-23896delTGATAGAGATAGACAGACAGATAGAG CTAGATAGATA	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT2_chr1_230062238_230287122	230185284	GTGTGTGT others(30): Show GTGTGTGTGTGTGTGTGTGCGCGCGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	324	0.0031	-37	c.220 others(54): Show c.220+6975_220+7011delGTGTGTGTGTGTGTGTGCGCGCGTGTGT GTGTGTGTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALP_chr19_56171008_56190775	56187114	GAAGATAA others(30): Show GAAGATAAGCTAGTAATGGACATTGTCAGTGTGGAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0366 a0002c0003t0001g0366	1	444	0.0023	-37	c.18 others(48): Show c.1845_*1881delAAGATAAGCTAGTAATGGACATTGTCAGTGTGGA ATA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding		1340		chr19	TogoVar
GALT_chr9_34641675_34656035	34644302	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp1 others(12): Show HG00099.hp2 HG00140.hp2 HG00738.hp1 HG01070.hp1 HG01123.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03942.hp2 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011	15	416	0.0361	-37	c.-24 others(48): Show c.-2402_-2366delATATATATATATATATATATATATATATATATAT ATA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2372		chr9	TogoVar
GAS6_chr13_113815549_113869076	113818054	CGGACGCC others(30): Show CGGACGCCGCAGTGCCGGGCTGGAGGCCGGGATCTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 NA20300.hp2 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0016t0001 a0001c0006t0001 a0001c0016t0001	a0001c0006t0001g0110 a0001c0016t0001g0126 a0001c0006t0001g0110 a0001c0016t0001g0126	2	143	0.0140	-37	c.27 others(48): Show c.2773_*2809delCTCAGATCCCGGCCTCCAGCCCGGCACTGCGGCG TCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		2494		chr13	TogoVar
GAS6_chr13_113815549_113869076	113818098	CGCGGTGC others(30): Show CGCGGTGCCGGGCTGGAGGCCGGGATCTGAGGGACGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0008 a0001c0015t0001g0008	1	143	0.0070	-37	c.27 others(48): Show c.2729_*2765delAGCGTCCCTCAGATCCCGGCCTCCAGCCCGGCAC CGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		2450		chr13	TogoVar
GATB_chr4_151665504_151766007	151732159	CGGCCACC others(30): Show CGGCCACCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0294 a0001c0012t0001g0293 a0001c0001t0001g0294 a0001c0012t0001g0293	2	320	0.0063	-37	c.328 others(56): Show c.328-12658_328-12622delAGGCAGAGGGGCTCCTCACTTCCCAG AAGGGGTGGCC	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GCGR_chr17_81799150_81819008	81806256	ACCTCCTG others(30): Show ACCTCCTGCCTCACTATCAGAGACCCAGTGGAGAATTG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	408	0.0025	-37	c.-17 others(56): Show c.-178+2013_-178+2049delTGCCTCACTATCAGAGACCCAGTGGA GAATTGCCTCC	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GDI2_chr10_5760223_5818434	5771607	GTAAATGT others(30): Show GTAAATGTACTCTACATAGACTAAAATCCTTATCATCT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01978.hp1 others(3): Show HG01256.hp2 HG01258.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0151 a0001c0001t0004g0152 others(3): Show a0001c0001t0004g0139 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0158 a0001c0001t0004g0214 a0001c0001t0004g0215	6	398	0.0151	-37	c.819 others(54): Show c.819+2198_819+2234delAGATGATAAGGATTTTAGTCTATGTAGA GTACATTTA	GDI2	ENSG00000057608.17	transcript	ENST00000380191.9	protein_coding	7/10			chr10	TogoVar
GET4_chr7_871554_901436	882577	AGGGATGG others(30): Show AGGGATGGCGCGGGTTGTGGGCGGCCGACCTTGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02965.hp2 others(11): Show HG02257.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0004t0002 a0001c0004t0004	a0001c0001t0002g0047 a0001c0001t0002g0258 a0001c0001t0002g0261 others(10): Show a0001c0001t0002g0047 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0004g0253 a0001c0001t0027g0263 a0001c0004t0002g0040 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0262 a0001c0004t0004g0254 a0001c0004t0004g0259 a0001c0004t0004g0260	14	384	0.0365	-37	c.156 others(54): Show c.156-3385_156-3349delGCGGCCGACCTTGCCCCGGGGATGGCGC GGGTTGTGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	886669	ACCCCGGG others(30): Show ACCCCGGGACCCTGTGACAGCGGCCCCAGTACGCCCCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0170 a0001c0003t0001g0170	1	384	0.0026	-37	c.316 others(50): Show c.316+27_316+63delACCCTGTGACAGCGGCCCCAGTACGCCCCTCC CCGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFRAL_chr6_55322469_55407493	55402069	AAGGTTCA others(30): Show AAGGTTCAAGTGATTTTCCTGCCTCAGCCTTCCCGAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0021	1	386	0.0026	-37	c.21 others(46): Show c.219_*255delGTTCAAGTGATTTTCCTGCCTCAGCCTTCCCGAGTA G	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	9/9	219	INFO_REALIGN_3_PRIME	chr6	TogoVar
GGT1_chr22_24598193_24633996	24605082	AGTATATT others(30): Show AGTATATTATATAATATGTATTATATTATATATTATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0271 a0002c0002t0020g0271	1	426	0.0024	-37	c.-42 others(56): Show c.-429+1556_-429+1592delGTATATTATATAATATGTATTATATT ATATATTATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GGT6_chr17_4551927_4565577	4564665	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0022 a0003c0004t0002g0022	1	458	0.0022	-37	c.-41 others(48): Show c.-4181_-4145delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAA	GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding		4089		chr17	TogoVar
GHSR_chr3_172438291_172453456	172452538	ACAGCTAC others(30): Show ACAGCTACATGGAAGAGGATGTTCTTATTCTTAGAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	446	0.0022	-37	c.-41 others(48): Show c.-4162_-4126delATCTCTAAGAATAAGAACATCCTCTTCCATGTAG CTG	GHSR	ENSG00000121853.4	transcript	ENST00000241256.3	protein_coding		4083		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 1847 hits)