Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGAGGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGAGGGGG AGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGGAGGGGGG GAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGGAGGGGGAGGAGGGGGGGGGAGAGAGGGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	334	0.0030	45	c.156 others(62): Show c.156-1332_156-1331insGAGGGGGAGGAGGGGGGGGGAGAGAGGG GAGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGGAGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	334	0.0030	45	c.156 others(62): Show c.156-1332_156-1331insGAGGGGGGGAGGGGGGGGAGAGAGGGGA GGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	334	0.0030	45	c.156 others(62): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGAGAGAGGGG AGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGGGGGGA others(38): Show GGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GAGAGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGAGGGGG others(38): Show GGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	334	0.0030	45	c.156 others(62): Show c.156-1325_156-1324insGAGGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(38): Show GGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18959.hp2 NA19007.hp2 HG02071.hp1 NA18959.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0002t0001g0277 a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0002t0001g0277	3	334	0.0090	45	c.156 others(62): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(38): Show GAGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	334	0.0030	45	c.156 others(62): Show c.156-1323_156-1322insAGGGGGGGGGAGAGAGGGGAGGGGGGGA GGGGGGGGAGGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(38): Show GGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	334	0.0030	45	c.156 others(62): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGGAGGGGGGGGG AGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(38): Show TATATATATATAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	340	0.0029	45	c.212 others(62): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATTTATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERP44_chr9_99974185_100104000	100100928	A A	ATATATAA others(38): Show ATATATAATATATATTATATGTATATATAATATATATTATATATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02647.hp1 HG01123.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0093 a0001c0001t0003g0079 a0001c0001t0003g0093	2	220	0.0091	45	c.-20 others(56): Show c.-2089_-2088insACATATATAATATATATTATATATACATATAATA TATATTATATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1929		chr9	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(38): Show GGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02004.hp1 HG03688.hp1 others(5): Show HG01123.hp1 HG02004.hp1 HG03688.hp1 NA18967.hp1 NA18993.hp1 NA19001.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0204 others(5): Show a0001c0001t0001g0171 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0242 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0002t0002g0174 a0001c0002t0002g0213	8	286	0.0280	45	c.590 others(62): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(38): Show GATATATATATTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01496.hp1 others(10): Show HG00438.hp2 HG00544.hp1 HG01496.hp1 HG01952.hp2 HG02027.hp2 HG02129.hp1 HG02155.hp2 HG02300.hp1 NA18994.hp2 NA19001.hp2 NA19009.hp1 NA19067.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0058 others(6): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0058 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0088	13	378	0.0344	45	c.701 others(60): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(38): Show GATATATATATTTTATTTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03471.hp1 others(2): Show HG01884.hp2 HG02572.hp1 HG03471.hp1 HG03471.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0313 a0002c0002t0002g0314 others(1): Show a0002c0002t0002g0030 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315	5	378	0.0132	45	c.701 others(60): Show c.701+321_701+322insATATATATATATATATATATATATATATAA ATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(38): Show GATATATATTTTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03942.hp2 HG03209.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0273 a0002c0002t0001g0304 a0002c0002t0001g0273 a0002c0002t0001g0304	2	378	0.0053	45	c.701 others(60): Show c.701+321_701+322insATATATATATATATATATATATATATATAT ATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGGAAA others(38): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03516.hp2 HG02523.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0239 a0001c0002t0003g0053 a0001c0002t0001g0239 a0001c0002t0003g0053	2	286	0.0070	45	c.214 others(62): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGGAA others(38): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02109.hp2 others(7): Show HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02165.hp2 HG02809.hp2 HG02922.hp1 HG03453.hp2 HG03579.hp1 NA19002.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012	a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 others(7): Show a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0005g0259 a0001c0001t0015g0043 a0001c0001t0015g0045 a0001c0002t0001g0220 a0001c0002t0004g0120 a0001c0002t0012g0060	10	286	0.0350	45	c.214 others(62): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	438	0.0023	45	c.-32 others(56): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EXOC3_chr5_438176_472290	443229	G G	GGGCGGCG others(38): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0002 a0001c0002t0032g0002	1	418	0.0024	45	c.-11 others(53): Show c.-113_-69dupGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13	2927	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC6B_chr2_72170984_72831033	72353349	G G	GTTGTATT others(38): Show GTTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01256.hp2 others(16): Show HG00323.hp1 HG01123.hp2 HG01256.hp2 HG01884.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03540.hp1 HG03927.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 others(16): Show a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0003g0040 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0058 a0001c0001t0007g0038 a0001c0001t0007g0060 a0001c0001t0008g0033 a0001c0001t0012g0039 a0001c0001t0018g0063 a0001c0001t0019g0043	19	104	0.1827	45	c.212 others(66): Show c.2123-18330_2123-18329insTACAATACAATACAATACAATACA ATACAATACAATACAATACAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	19/21			chr2	TogoVar
EXOC8_chr1_231327753_231342852	231341485	G G	GAGCATTT others(38): Show GAGCATTTCAGATTTTGGATTGTCAAATTAGGGATGTTCAACCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	45	c.-37 others(56): Show c.-3785_-3741dupACTGGTTGAACATCCCTAATTTGACAATCCAAAA TCTGAAATGCT	EXOC8	ENSG00000116903.7	transcript	ENST00000366645.1	protein_coding		3634		chr1	TogoVar
EXT1_chr8_117789490_118116826	118073705	A A	AAGAGAAG others(38): Show AAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0003 a0001c0001t0027g0003	1	190	0.0053	45	c.962 others(64): Show c.962+36379_962+36380insCCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	392	0.0026	45	c.-68 others(64): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATATATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(38): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2	a0002 a0011 a0017 a0002 a0011 a0017	a0002c0008 a0011c0001 a0017c0013 a0002c0008 a0011c0001 a0017c0013	a0002c0008t0002 a0011c0001t0001 a0017c0013t0001 a0002c0008t0002 a0011c0001t0001 a0017c0013t0001	a0002c0008t0002g0020 a0011c0001t0001g0013 a0017c0013t0001g0017 a0002c0008t0002g0020 a0011c0001t0001g0013 a0017c0013t0001g0017	3	24	0.1250	45	c.202 others(66): Show c.2023+17831_2023+17832insAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
F7_chr13_113100791_113125685	113105038	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	400	0.0025	45	c.-80 others(54): Show c.-804_-803insTATATATATATATATATATATATATATATATATATA TATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
FAM104A_chr17_73202365_73237394	73224920	G G	GACAGGAC others(38): Show GACAGGACAGGACAGGACAGGACAGGACAGGACAGCACAGCACAGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0191 a0002c0004t0001g0191	1	400	0.0025	45	c.321 others(62): Show c.321+2244_321+2245insGCTGTGCTGTGCTGTCCTGTCCTGTCCT GTCCTGTCCTGTCCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM104A_chr17_73202365_73237394	73224960	G G	GACAGCAC others(38): Show GACAGCACAGCACAGGACAGGACAGCACAGCACAGCACAGCACAGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18957.hp1 HG02056.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0174 a0001c0001t0001g0109 a0001c0001t0001g0174	2	400	0.0050	45	c.321 others(62): Show c.321+2204_321+2205insGCTGTGCTGTGCTGTGCTGTGCTGTCCT GTCCTGTGCTGTGCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar
FAM135A_chr6_70408508_70566174	70411368	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0265 a0001c0004t0007g0265	1	268	0.0037	45	c.-25 others(56): Show c.-2554_-2553insATATATATATATATATATATATATATATATATAT ATATATATATA	FAM135A	ENSG00000082269.17	transcript	ENST00000418814.7	protein_coding		2139		chr6	TogoVar
FAM13B_chr5_137932960_138038079	137983213	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	322	0.0031	45	c.117 others(64): Show c.1179+2043_1179+2044insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	FAM13B	ENSG00000031003.11	transcript	ENST00000689681.1	protein_coding	10/23			chr5	TogoVar
FAM166C_chr2_26557587_26584524	26573398	G G	GGGGAAGA others(38): Show GGGGAAGAGGCCGAGAGGGAGGGGGATATTAAAGATGACGGAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02258.hp2 others(9): Show HG01884.hp1 HG02055.hp1 HG02258.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0003t0001g0015 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0003t0001g0015	12	412	0.0291	45	c.75- others(60): Show c.75-2500_75-2456dupAAGAGGCCGAGAGGGAGGGGGATATTAAAG ATGACGGAAGAAGGG	FAM166C	ENSG00000173557.15	transcript	ENST00000329615.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	286	0.0035	45	c.291 others(64): Show c.2916-3057_2916-3056insAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0002 a0001c0001t0005g0025 a0001c0001t0004g0002 a0001c0001t0005g0025	2	286	0.0070	45	c.291 others(64): Show c.2916-3057_2916-3056insAAAAAAAAAAATATATATATATATAT ATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	286	0.0035	45	c.291 others(64): Show c.2916-3057_2916-3056insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0106 a0007c0007t0003g0106	1	330	0.0030	45	c.502 others(62): Show c.502-7999_502-7998insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(38): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0236 a0003c0003t0001g0236	1	330	0.0030	45	c.502 others(62): Show c.502-7999_502-7998insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM83E_chr19_48594961_48620076	48616643	C C	CCAGCACA others(38): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0107 a0004c0006t0001g0107	1	414	0.0024	45	c.-30 others(56): Show c.-3095_-3094insTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTGCT GTGCTGTGCTG	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding		1568		chr19	TogoVar
FAM83F_chr22_39989954_40048534	40004267	A A	AATTTTAT others(38): Show AATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	234	0.0043	45	c.489 others(62): Show c.489+8742_489+8786dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FANCC_chr9_95094054_95322709	95235220	G G	GGCACCTG others(38): Show GGCACCTGATGCATGATGAAGGTGGCACCACAGATCAGTGGGAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(135): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18955.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0003t0007 a0001c0003t0013 a0001c0005t0001 a0001c0005t0003 a0002c0002t0003 a0002c0002t0031 a0003c0004t0008 a0003c0004t0018 a0005c0007t0027 a0007c0009t0016	a0001c0001t0001g0131 a0001c0001t0001g0235 a0001c0001t0001g0236 others(135): Show a0001c0001t0001g0131 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0241 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0003g0002 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0151 a0001c0001t0003g0164 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0245 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0006g0270 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0010g0152 a0001c0001t0010g0195 a0001c0001t0014g0001 a0001c0001t0020g0176 a0001c0001t0021g0172 a0001c0001t0022g0165 a0001c0001t0023g0231 a0001c0001t0024g0240 a0001c0001t0026g0167 a0001c0001t0028g0271 a0001c0001t0029g0173 a0001c0001t0033g0188 a0001c0003t0007g0040 a0001c0003t0007g0041 a0001c0003t0007g0051 a0001c0003t0013g0242 a0001c0003t0013g0243 a0001c0005t0001g0237 a0001c0005t0003g0234 a0001c0005t0003g0238 a0002c0002t0003g0058 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0113 a0002c0002t0031g0079 a0003c0004t0008g0106 a0003c0004t0008g0115 a0003c0004t0018g0107 a0005c0007t0027g0110 a0007c0009t0016g0169	138	278	0.4964	45	c.345 others(62): Show c.345+5384_345+5428dupATTTCCCACTGATCTGTGGTGCCACCTT CATCATGCATCAGGTGC	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	4/14			chr9	TogoVar
FANCC_chr9_95094054_95322709	95235295	C C	CAGATCAG others(38): Show CAGATCAGTGGGAAATGCACCTGATGCATGATGAAGGTGGCACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01243.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0097 a0001c0001t0002g0063 a0001c0001t0002g0097	2	278	0.0072	45	c.345 others(62): Show c.345+5353_345+5354insATGGTGCCACCTTCATCATGCATCAGGT GCATTTCCCACTGATCT	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	4/14			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10069493	C C	CCTCCCCC others(38): Show CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCACG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0163 a0003c0004t0003g0163	1	242	0.0041	45	c.249 others(64): Show c.2494+2176_2494+2177insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCTCCACG	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FARP1_chr13_98138094_98460176	98401438	A A	AGACACAC others(38): Show AGACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0019 a0001c0017t0019	a0001c0017t0019g0176 a0001c0017t0019g0176	1	218	0.0046	45	c.141 others(64): Show c.1414+5962_1414+5963insGACACACACACACACACACACACACA CACACACACACACACACAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26			chr13	TogoVar
FAT3_chr11_92219818_92901473	92705497	G G	GGTGATGG others(38): Show GGTGATGGTGGTGGTGTGATAGTGGTGTTGGTGGTGGTGTGATGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0029 a0029	a0029c0055 a0029c0055	a0029c0055t0075 a0029c0055t0075	a0029c0055t0075g0023 a0029c0055t0075g0023	1	118	0.0085	45	c.366 others(64): Show c.3669+8072_3669+8116dupAGTGGTGTTGGTGGTGGTGTGATGGT GTGATGGTGGTGGTGTGAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FBN2_chr5_128252909_128543245	128539896	T T	TCATATAT others(38): Show TCATATATCATATATATCATATTATATATCATATATCATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0022 a0001c0028t0002g0022	1	236	0.0042	45	c.-22 others(56): Show c.-2294_-2293insGATATATATGATATATGATATATAATATGATATA TATGATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1652		chr5	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATC others(38): Show CATATATCATATATATCAATCATATATATTATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG03041.hp2 HG02647.hp1 HG02895.hp1 HG03041.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0009 a0002c0041 a0003c0007 a0001c0009 a0002c0041 a0003c0007	a0001c0009t0006 a0002c0041t0011 a0003c0007t0005 a0001c0009t0006 a0002c0041t0011 a0003c0007t0005	a0001c0009t0006g0028 a0002c0041t0011g0029 a0003c0007t0005g0052 a0001c0009t0006g0028 a0002c0041t0011g0029 a0003c0007t0005g0052	3	236	0.0127	45	c.-24 others(56): Show c.-2465_-2464insATGATATATGATATATAATATATATGATTGATAT ATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130636	G G	GGAAGGAA others(38): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0136 a0136	a0136c0112 a0136c0112	a0136c0112t0001 a0136c0112t0001	a0136c0112t0001g0091 a0136c0112t0001g0091	1	380	0.0026	45	c.204 others(62): Show c.2044+598_2044+599insTCCTTTCCTTTCCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar

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Search Results (Total: 2640 hits)