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
ERBB4_chr2_211370717_212543802	212192007	A A	ATGTTATA others(32): Show ATGTTATATGTTATATATGTTATATGTTATATATTATATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp2 HG03471.hp2 HG01175.hp2 HG03239.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0026 a0002c0003t0001 a0001c0001t0005 a0001c0001t0026 a0002c0003t0001	a0001c0001t0005g0015 a0001c0001t0026g0052 a0002c0003t0001g0014 a0001c0001t0005g0015 a0001c0001t0026g0052 a0002c0003t0001g0014	3	56	0.0536	39	c.83- others(56): Show c.83-67105_83-67104insCATATAATATATAACATATAACATATAT AACATATAACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373950	T T	TATCCATA others(32): Show TATCCATATATATCCATATATATATATCCATATATATCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG03516.hp1 HG02258.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001	a0001c0001t0002g0047 a0001c0001t0009g0023 a0001c0002t0001g0048 a0001c0001t0002g0047 a0001c0001t0009g0023 a0001c0002t0001g0048	3	56	0.0536	39	c.82+ others(58): Show c.82+164498_82+164499insTGGATATATATGGATATATATATATG GATATATATGGAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1146308	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0134 a0002c0002t0134	a0002c0002t0134g0105 a0002c0002t0134g0105	1	162	0.0062	39	c.173 others(58): Show c.1737+4546_1737+4547insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1496113	A A	ATGGTGCC others(32): Show ATGGTGCCACATCCCCCAGCCCACTGTGACCTCGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01106.hp2 others(13): Show HG00639.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01891.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0002c0007 a0005c0010	a0001c0001t0058 a0002c0002t0016 a0002c0002t0035 others(12): Show a0001c0001t0058 a0002c0002t0016 a0002c0002t0035 a0002c0002t0036 a0002c0002t0048 a0002c0002t0080 a0002c0002t0099 a0002c0002t0104 a0002c0002t0105 a0002c0002t0134 a0002c0002t0135 a0002c0002t0140 a0002c0006t0051 a0002c0007t0059 a0005c0010t0082	a0001c0001t0058g0141 a0002c0002t0016g0098 a0002c0002t0016g0101 others(13): Show a0001c0001t0058g0141 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0035g0143 a0002c0002t0036g0158 a0002c0002t0048g0070 a0002c0002t0080g0127 a0002c0002t0099g0131 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0134g0105 a0002c0002t0135g0093 a0002c0002t0140g0108 a0002c0006t0051g0081 a0002c0007t0059g0071 a0005c0010t0082g0126	16	162	0.0988	39	c.58 others(50): Show c.5883_*5884insTGGTGCCACATCCCCCAGCCCACTGTGACCTCGG AGGAG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding		183		chr12	TogoVar
ERC1_chr12_986223_1500931	1496113	A A	ATGGTGCC others(32): Show ATGGTGCCACATCCCCCAGCCCGCTGTGACCTCGGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(47): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp1 HG01993.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03654.hp1 HG03669.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18982.hp2 NA19030.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0006c0009 a0008c0011	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(44): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0083 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0103 a0001c0001t0126 a0001c0001t0132 a0001c0001t0133 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0026 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0081 a0002c0002t0089 a0002c0002t0098 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0136 a0003c0004t0009 a0003c0004t0096 a0006c0009t0025 a0008c0011t0044	a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0008g0010 others(47): Show a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0008g0010 a0001c0001t0008g0086 a0001c0001t0009g0007 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0027g0119 a0001c0001t0043g0084 a0001c0001t0045g0066 a0001c0001t0049g0157 a0001c0001t0050g0144 a0001c0001t0056g0085 a0001c0001t0083g0130 a0001c0001t0087g0046 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0093g0008 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0097g0031 a0001c0001t0103g0132 a0001c0001t0126g0030 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0026g0115 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0081g0123 a0002c0002t0089g0037 a0002c0002t0098g0045 a0002c0002t0100g0134 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0136g0100 a0003c0004t0009g0059 a0003c0004t0096g0063 a0006c0009t0025g0110 a0008c0011t0044g0068	50	162	0.3086	39	c.58 others(50): Show c.5883_*5884insTGGTGCCACATCCCCCAGCCCGCTGTGACCTCGG AGGAG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding		183		chr12	TogoVar
ERC2_chr3_55503311_56473467	55799452	T T	TATATATA others(32): Show TATATATATGCCTTATATGTATGCATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG02965.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0054 a0001c0002t0001g0003 a0001c0001t0002g0054 a0001c0002t0001g0003	2	74	0.0270	39	c.256 others(60): Show c.2565-64535_2565-64534insGCATATATATATATATGCATACAT ATAAGGCATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914763	C C	CATCTCCG others(32): Show CATCTCCGTCTCTGTCTCTCCCTCCCTTTCCACCATCTCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	330	0.0030	39	c.-13 others(56): Show c.-13-1832_-13-1831insAGAGATGGTGGAAAGGGAGGGAGAGACA GAGACGGAGAT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERI3_chr1_44216070_44360257	44342820	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	340	0.0029	39	c.212 others(56): Show c.212-3499_212-3498insTATATATATATATATATATATATATATA TATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(32): Show TATATATAAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	340	0.0029	39	c.212 others(56): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATTTATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH1_chr8_659200_736224	680189	A A	AAAGTCCA others(32): Show AAAGTCCAAGAGAATCCATAGCTGCCATCCCTGTGAACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	378	0.0027	39	c.305 others(56): Show c.305-6143_305-6142insGTGTTCACAGGGATGGCAGCTATGGATT CTCTTGGACTT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	696400	T T	TCCTCCCC others(32): Show TCCTCCCCATCAGCCTGCGCCTGTGCTGGCTCCTCTCACC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01891.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01891.hp1 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233	8	378	0.0212	39	c.170 others(56): Show c.170-3789_170-3788insGGTGAGAGGAGCCAGCACAGGCGCAGGC TGATGGGGAGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp2 NA20129.hp1 HG00741.hp2 HG02257.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0149 a0001c0009t0001g0218 a0001c0001t0001g0012 a0001c0001t0001g0149 a0001c0009t0001g0218	3	442	0.0068	39	c.101 others(58): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERP44_chr9_99974185_100104000	100100779	A A	ATATATAT others(32): Show ATATATATATTATATGTATATATAATATATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01943.hp1 HG02293.hp1 HG00323.hp1 HG01943.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0005g0153 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0005g0153	3	220	0.0136	39	c.-19 others(50): Show c.-1940_-1939insCATATAATATATATATTATATATACATATAATAT ATATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1780		chr9	TogoVar
ETFA_chr15_76210353_76316469	76305073	A A	ATCCTCCG others(32): Show ATCCTCCGCTCTATTACTTTATCACTCAGTAACAATAGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02976.hp1 HG02145.hp1 HG02630.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0264 a0001c0001t0003g0275 a0001c0001t0003g0277	3	336	0.0089	39	c.39+ others(54): Show c.39+6238_39+6276dupAACTATTGTTACTGAGTGATAAAGTAATAG AGCGGAGGA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	336	0.0030	39	c.-54 others(48): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(32): Show GATATATATATTTTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0101 a0002c0002t0002g0101	1	378	0.0027	39	c.701 others(54): Show c.701+321_701+322insATATATATATATATATATATATATATAAAA TATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETV3L_chr1_157087043_157104808	157087395	G G	GGCATATG others(32): Show GGCATATGCCACCAGGCCCCAGCTAATTTTTTTTTTTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0011 a0001c0006t0001g0011	1	464	0.0022	39	c.52 others(50): Show c.5253_*5254insTTTAAAAAAAAAAATTAGCTGGGGCCTGGTGGCA TATGC	ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding		4647		chr1	TogoVar
ETV7_chr6_36361194_36392669	36389903	T T	TACATAAA others(32): Show TACATAAAAACGAATAAGCATAACAGGAGGGAAGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	462	0.0022	39	c.-23 others(50): Show c.-2363_-2362insTCCCCTCTTCCCTCCTGTTATGCTTATTCGTTTT TATGT	ETV7	ENSG00000010030.14	transcript	ENST00000340181.9	protein_coding		2235		chr6	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTGTT others(32): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0041 a0001c0002t0017g0041	1	430	0.0023	39	c.-64 others(48): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(32): Show AATATATATATATATTTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	272	0.0037	39	c.-43 others(58): Show c.-43-20769_-43-20768insATATATATATATATATATATATAAAA TATATATATATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0068 a0001c0002t0005g0068	1	104	0.0096	39	c.114 others(58): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0034 a0001c0001t0019g0034	1	190	0.0053	39	c.963 others(58): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT2_chr11_44090678_44256962	44119137	T T	TATAATAT others(32): Show TATAATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	334	0.0030	39	c.743 others(56): Show c.743+4839_743+4840insATATATATATATATATATATATATATAT ATATATACATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	392	0.0026	39	c.-68 others(58): Show c.-68-15034_-68-15033insAAATATATATATATATATATATATAT ATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0048 a0001c0001t0013g0048	1	392	0.0026	39	c.-68 others(58): Show c.-68-15034_-68-15033insAAAAAAAAATATATATATATATATAT ATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	63727737	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0003 a0018c0016t0001g0003	1	24	0.0417	39	c.807 others(58): Show c.8072-1058_8072-1057insATATATATATATATATATATATATAT ATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0017 a0017	a0017c0037 a0017c0037	a0017c0037t0003 a0017c0037t0003	a0017c0037t0003g0045 a0017c0037t0003g0045	1	306	0.0033	39	c.952 others(54): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	400	0.0025	39	c.-80 others(48): Show c.-802_-801insAAAAAATATATATATATATATATATATATATATATA TAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FAM117A_chr17_49705332_49769131	49729077	A A	ATTCAAGA others(32): Show ATTCAAGAACTGAGAGCTTTTCGCTCCATCTTCTACTCTG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	336	0.0030	39	c.366 others(56): Show c.366+3435_366+3473dupCAGAGTAGAAGATGGAGCGAAAAGCTCT CAGTTCTTGAA	FAM117A	ENSG00000121104.8	transcript	ENST00000240364.7	protein_coding	2/7			chr17	TogoVar
FAM120B_chr6_170301758_170412067	170399390	T T	TCTTAGGA others(32): Show TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	289	0.0035	39	c.269 others(58): Show c.2692+3849_2692+3850insCCTTAGGAGTGAGTGAGAAAGGTAGA ACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399739	T T	TCTTAGGA others(32): Show TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(58): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG02015.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA19081.hp2 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0006c0010 a0008c0016 a0009c0014	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(11): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0030 a0002c0003t0007 a0004c0005t0009 a0006c0010t0010 a0008c0016t0008 a0009c0014t0009	a0001c0001t0008g0010 a0001c0001t0008g0192 a0001c0001t0008g0194 others(53): Show a0001c0001t0008g0010 a0001c0001t0008g0192 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0200 a0001c0001t0008g0271 a0001c0001t0009g0009 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0009g0278 a0001c0001t0010g0095 a0001c0001t0010g0096 a0001c0001t0016g0198 a0001c0001t0016g0199 a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0075 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0069 a0001c0002t0004g0072 a0001c0002t0004g0104 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0007g0006 a0001c0002t0007g0007 a0001c0002t0007g0008 a0001c0002t0007g0181 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0185 a0001c0002t0007g0186 a0001c0002t0010g0103 a0001c0002t0030g0182 a0002c0003t0007g0112 a0002c0003t0007g0145 a0004c0005t0009g0090 a0006c0010t0010g0019 a0006c0010t0010g0020 a0008c0016t0008g0196 a0009c0014t0009g0193	61	289	0.2111	39	c.269 others(58): Show c.2692+4174_2692+4175insGGGAAGGTAGAACTATGTCATAACCC TTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399986	A A	AGGAAGGT others(32): Show AGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(118): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18959.hp1 NA18959.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18990.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp1 NA19076.hp1 NA19081.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0009 a0001c0018 a0002c0003 a0003c0004 a0004c0005 a0005c0007 a0006c0010 a0008c0016 a0009c0014 a0010c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0024 a0001c0002t0029 a0001c0002t0030 a0001c0006t0001 a0001c0008t0001 a0001c0009t0017 a0001c0009t0018 a0001c0018t0006 a0002c0003t0007 a0003c0004t0003 a0003c0004t0015 a0004c0005t0001 a0004c0005t0009 a0005c0007t0012 a0005c0007t0028 a0006c0010t0010 a0008c0016t0008 a0009c0014t0009 a0010c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0229 a0001c0001t0001g0230 others(111): Show a0001c0001t0001g0011 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0005g0217 a0001c0001t0005g0258 a0001c0001t0006g0201 a0001c0001t0006g0203 a0001c0001t0008g0010 a0001c0001t0008g0192 a0001c0001t0008g0194 a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0200 a0001c0001t0008g0271 a0001c0001t0009g0009 a0001c0001t0009g0188 a0001c0001t0009g0189 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0010g0083 a0001c0001t0010g0095 a0001c0001t0010g0096 a0001c0001t0014g0212 a0001c0001t0016g0198 a0001c0001t0016g0199 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0026 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0069 a0001c0002t0004g0072 a0001c0002t0004g0104 a0001c0002t0004g0178 a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0002t0007g0006 a0001c0002t0007g0007 a0001c0002t0007g0008 a0001c0002t0007g0181 a0001c0002t0007g0183 a0001c0002t0007g0184 a0001c0002t0007g0185 a0001c0002t0007g0186 a0001c0002t0010g0103 a0001c0002t0024g0030 a0001c0002t0029g0091 a0001c0002t0030g0182 a0001c0006t0001g0246 a0001c0006t0001g0255 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0009t0017g0093 a0001c0009t0018g0092 a0001c0018t0006g0215 a0002c0003t0007g0112 a0002c0003t0007g0145 a0003c0004t0003g0005 a0003c0004t0003g0152 a0003c0004t0003g0153 a0003c0004t0003g0154 a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 a0003c0004t0003g0159 a0003c0004t0003g0160 a0003c0004t0003g0161 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0004t0003g0164 a0003c0004t0003g0165 a0003c0004t0003g0166 a0003c0004t0003g0167 a0003c0004t0003g0168 a0003c0004t0003g0169 a0003c0004t0003g0170 a0003c0004t0015g0151 a0003c0004t0015g0155 a0004c0005t0001g0084 a0004c0005t0001g0085 a0004c0005t0001g0086 a0004c0005t0001g0087 a0004c0005t0001g0088 a0004c0005t0001g0089 a0004c0005t0009g0090 a0005c0007t0012g0003 a0005c0007t0028g0003 a0006c0010t0010g0019 a0006c0010t0010g0020 a0008c0016t0008g0196 a0009c0014t0009g0193 a0010c0013t0001g0237	121	289	0.4187	39	c.269 others(58): Show c.2692+4430_2692+4431insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399997	A A	ACTATGTC others(32): Show ACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02572.hp2 HG02970.hp2 HG03130.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277	5	289	0.0173	39	c.269 others(58): Show c.2692+4430_2692+4431insCCTTAGGAGTGAGTGGGGAAGGTAGA GCTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170400205	C C	CCTTAGGA others(32): Show CCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	289	0.0035	39	c.269 others(58): Show c.2693-4307_2693-4269dupCTCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM124A_chr13_51217398_51289239	51272709	A A	AGGAGTGC others(32): Show AGGAGTGCTAGACCGCAGGACGCCAAGCACAGTCAAGGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp1 HG06807.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0278 a0002c0004t0010g0331 a0002c0004t0010g0278 a0002c0004t0010g0331	2	406	0.0049	39	c.835 others(56): Show c.835-7733_835-7695dupTAGACCGCAGGACGCCAAGCACAGTCAA GGTGGGAGTGC	FAM124A	ENSG00000150510.17	transcript	ENST00000322475.13	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM135B_chr8_138125023_138502261	138493952	A A	ACTGGAGA others(32): Show ACTGGAGATGAAATCCCAGTGCTTGTGCTTTTTTACTATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp2 others(99): Show HG00280.hp2 HG00423.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18971.hp2 NA18972.hp2 NA19009.hp1 NA19056.hp1 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0012 a0013	a0001c0003 a0001c0004 a0001c0005 others(19): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0002c0002 a0002c0019 a0003c0001 a0003c0014 a0003c0021 a0004c0009 a0005c0011 a0006c0012 a0007c0032 a0008c0016 a0012c0025 a0013c0031	a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 others(56): Show a0001c0003t0010 a0001c0003t0018 a0001c0003t0038 a0001c0004t0002 a0001c0004t0005 a0001c0004t0008 a0001c0004t0011 a0001c0004t0012 a0001c0005t0002 a0001c0005t0005 a0001c0005t0026 a0001c0005t0036 a0001c0006t0001 a0001c0006t0002 a0001c0006t0005 a0001c0006t0011 a0001c0006t0015 a0001c0006t0029 a0001c0007t0040 a0001c0010t0011 a0001c0010t0034 a0001c0013t0002 a0001c0015t0008 a0001c0017t0002 a0001c0018t0002 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0020 a0002c0002t0032 a0002c0002t0037 a0002c0019t0015 a0003c0001t0002 a0003c0001t0006 a0003c0001t0009 a0003c0001t0013 a0003c0001t0017 a0003c0001t0019 a0003c0001t0020 a0003c0001t0021 a0003c0001t0025 a0003c0001t0027 a0003c0001t0028 a0003c0001t0030 a0003c0001t0031 a0003c0001t0035 a0003c0001t0039 a0003c0014t0002 a0003c0021t0033 a0004c0009t0002 a0004c0009t0008 a0005c0011t0016 a0006c0012t0002 a0007c0032t0005 a0008c0016t0008 a0012c0025t0002 a0013c0031t0002	a0001c0003t0010g0195 a0001c0003t0010g0205 a0001c0003t0010g0206 others(99): Show a0001c0003t0010g0195 a0001c0003t0010g0205 a0001c0003t0010g0206 a0001c0003t0010g0208 a0001c0003t0018g0168 a0001c0003t0018g0178 a0001c0003t0038g0207 a0001c0004t0002g0147 a0001c0004t0002g0150 a0001c0004t0002g0156 a0001c0004t0002g0165 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0005g0203 a0001c0004t0008g0128 a0001c0004t0011g0119 a0001c0004t0012g0121 a0001c0005t0002g0136 a0001c0005t0002g0141 a0001c0005t0002g0151 a0001c0005t0002g0157 a0001c0005t0002g0160 a0001c0005t0002g0179 a0001c0005t0005g0188 a0001c0005t0005g0192 a0001c0005t0005g0200 a0001c0005t0005g0210 a0001c0005t0026g0120 a0001c0005t0036g0186 a0001c0006t0001g0005 a0001c0006t0002g0133 a0001c0006t0002g0152 a0001c0006t0002g0159 a0001c0006t0002g0183 a0001c0006t0005g0187 a0001c0006t0005g0211 a0001c0006t0011g0117 a0001c0006t0015g0114 a0001c0006t0029g0123 a0001c0007t0040g0191 a0001c0010t0011g0118 a0001c0010t0034g0163 a0001c0013t0002g0137 a0001c0015t0008g0129 a0001c0017t0002g0146 a0001c0018t0002g0148 a0002c0002t0002g0132 a0002c0002t0002g0167 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0202 a0002c0002t0005g0204 a0002c0002t0005g0209 a0002c0002t0006g0135 a0002c0002t0009g0164 a0002c0002t0012g0122 a0002c0002t0012g0124 a0002c0002t0020g0189 a0002c0002t0032g0134 a0002c0002t0037g0201 a0002c0019t0015g0112 a0003c0001t0002g0169 a0003c0001t0006g0140 a0003c0001t0006g0155 a0003c0001t0006g0158 a0003c0001t0006g0161 a0003c0001t0006g0162 a0003c0001t0006g0171 a0003c0001t0006g0174 a0003c0001t0006g0176 a0003c0001t0009g0175 a0003c0001t0009g0177 a0003c0001t0009g0180 a0003c0001t0013g0185 a0003c0001t0013g0190 a0003c0001t0013g0199 a0003c0001t0017g0172 a0003c0001t0017g0173 a0003c0001t0019g0138 a0003c0001t0019g0154 a0003c0001t0020g0184 a0003c0001t0021g0198 a0003c0001t0021g0212 a0003c0001t0025g0113 a0003c0001t0027g0115 a0003c0001t0028g0116 a0003c0001t0030g0125 a0003c0001t0031g0126 a0003c0001t0035g0153 a0003c0001t0039g0196 a0003c0014t0002g0149 a0003c0021t0033g0143 a0004c0009t0002g0142 a0004c0009t0002g0145 a0004c0009t0008g0130 a0005c0011t0016g0139 a0005c0011t0016g0144 a0006c0012t0002g0170 a0007c0032t0005g0193 a0008c0016t0008g0127 a0012c0025t0002g0131 a0013c0031t0002g0166	102	212	0.4811	39	c.-20 others(56): Show c.-20+2718_-20+2719insCATAGTAAAAAAGCACAAGCACTGGGAT TTCATCTCCAG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19			chr8	TogoVar
FAM149A_chr4_186099704_186180337	186136964	T T	TTCTCTTT others(32): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0014 a0008c0013t0014	a0008c0013t0014g0145 a0008c0013t0014g0145	1	390	0.0026	39	c.567 others(58): Show c.567-12204_567-12203insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTTCTCTCTCT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM168A_chr11_73395487_73603112	73544728	G G	GTAATTAT others(32): Show GTAATTATATATAATTATATATTTTATATGTAATTATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18959.hp2 HG02145.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0071 a0001c0002t0001g0079	2	180	0.0111	39	c.-19 others(58): Show c.-19+53156_-19+53194dupTATATAATTACATATAAAATATATAA TTATATATAATTA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545027	A A	ATAATATA others(32): Show ATAATATATATATATAATATATATATATAATATATTTTAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp2 others(23): Show HG00323.hp1 HG00438.hp1 HG00544.hp2 HG01168.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG02615.hp1 HG03139.hp1 HG03710.hp1 HG03831.hp1 NA18906.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA19005.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 others(6): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0001t0052	a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 others(23): Show a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0008g0159 a0001c0001t0008g0172 a0001c0001t0008g0173 a0001c0001t0008g0175 a0001c0001t0016g0135 a0001c0001t0016g0136 a0001c0001t0034g0174 a0001c0001t0035g0179 a0001c0001t0036g0178 a0001c0001t0037g0177 a0001c0001t0041g0134 a0001c0001t0052g0157	26	180	0.1444	39	c.-19 others(58): Show c.-19+52895_-19+52896insATAAAATATATTATATATATATATTA TATATATATATTA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FAM171A2_chr17_44348215_44368853	44367962	T T	TTTCTTTT others(32): Show TTTCTTTTCTTTTTTTCTTTTTTTTCTTTTTCTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	39	c.-42 others(50): Show c.-4249_-4248insGAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAGAA AAGAA	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4110		chr17	TogoVar
FAM172A_chr5_93612725_94116663	93635459	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	126	0.0079	39	c.110 others(60): Show c.1109-14331_1109-14330insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	10/10			chr5	TogoVar
FAM177B_chr1_222732202_222756004	222739889	T T	TCTATGGC others(32): Show TCTATGGCACTGATAGATATGAATATGATTTTGTCAGTTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	400	0.0025	39	c.-16 others(56): Show c.-16+1868_-16+1869insCTATGGCACTGATAGATATGAATATGAT TTTGTCAGTTG	FAM177B	ENSG00000197520.11	transcript	ENST00000445590.4	protein_coding	2/5			chr1	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	286	0.0035	39	c.291 others(58): Show c.2916-3057_2916-3056insAAAAATATATATATATATATATATAT ATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	286	0.0035	39	c.291 others(58): Show c.2916-3057_2916-3056insAAAAAAAAAAAAATATATATATATAT ATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	286	0.0035	39	c.291 others(58): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	286	0.0035	39	c.291 others(58): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(32): Show GAGAGAGAGAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	332	0.0030	39	c.650 others(58): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	332	0.0030	39	c.650 others(58): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTCTCTCTCT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0323 a0004c0004t0001g0323	1	330	0.0030	39	c.502 others(56): Show c.502-7999_502-7998insATATATATATATATATATATATATATTT TTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM20A_chr17_68530116_68606367	68575506	T T	TTATATAT others(32): Show TTATATATTTTATATATTATATATTTTATATATTATATAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	380	0.0026	39	c.405 others(58): Show c.405-19764_405-19763insTTATATAATATATAAAATATATAATA TATAAAATATATA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar

Search by Variant

Search

Search Results (Total: 3425 hits)