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
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0274 a0001c0001t0017g0274	1	416	0.0024	36	c.635 others(51): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02155.hp2 HG02083.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0002g0307 a0001c0001t0001g0290 a0001c0001t0002g0307	2	416	0.0048	36	c.635 others(51): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAPPA2_chr1_176458175_176850601	176623758	C C	CCTTCCTT others(29): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0018 a0001c0001t0037g0018	1	118	0.0085	36	c.199 others(57): Show c.1991+28166_1991+28167insCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87706084	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19072.hp1 HG01884.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0148 a0001c0001t0048g0158 a0001c0001t0001g0148 a0001c0001t0048g0158	2	372	0.0054	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATATAT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp1 NA18951.hp2 HG02809.hp2 HG03209.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0054 a0001c0001t0016 a0001c0001t0017 a0001c0001t0054	a0001c0001t0016g0144 a0001c0001t0017g0106 a0001c0001t0054g0345 a0001c0001t0016g0144 a0001c0001t0017g0106 a0001c0001t0054g0345	3	372	0.0081	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATATATATATGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp2 NA19075.hp1 HG00280.hp1 HG01256.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0001g0293 a0001c0001t0001g0152 a0001c0001t0001g0231 a0001c0001t0001g0293	3	372	0.0081	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19011.hp2 NA18951.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0260 a0001c0001t0003g0139 a0001c0001t0002g0260 a0001c0001t0003g0139	2	372	0.0054	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG01891.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0060 a0001c0001t0004 a0001c0001t0060	a0001c0001t0004g0269 a0001c0001t0060g0153 a0001c0001t0004g0269 a0001c0001t0060g0153	2	372	0.0054	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	372	0.0027	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATATGTGTGTGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02683.hp2 HG02071.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0255 a0001c0001t0002g0100 a0001c0001t0002g0255	2	372	0.0054	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATATATGTGTGTGTGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATGTATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0223 a0001c0001t0018g0223	1	372	0.0027	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATGTATATATATATATGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(29): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0162 a0001c0001t0051g0162	1	372	0.0027	36	c.28- others(51): Show c.28-3087_28-3086insATATATATATATGTGTGTGTGTGTGTGTGT GTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0305 a0001c0001t0025g0305	1	372	0.0027	36	c.881 others(53): Show c.881-2412_881-2411insCACACACACACACACACACACACACACA CACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300875	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	284	0.0035	36	c.-27 others(55): Show c.-277+1819_-277+1820insCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTTCC others(29): Show CTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18964.hp2 NA18982.hp1 others(2): Show HG01257.hp2 NA18964.hp2 NA18982.hp1 NA19010.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0007 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0007 a0002c0002t0023	a0001c0001t0002g0177 a0002c0002t0002g0136 a0002c0002t0002g0224 others(2): Show a0001c0001t0002g0177 a0002c0002t0002g0136 a0002c0002t0002g0224 a0002c0002t0007g0204 a0002c0002t0023g0138	5	284	0.0176	36	c.-27 others(55): Show c.-277+1887_-277+1888insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300957	T T	TTCTTTCT others(29): Show TTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	284	0.0035	36	c.-27 others(55): Show c.-277+1909_-277+1910insCCTTTCTTTCTTTCTTTCTTTCTTTC TCTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322832	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02004.hp2 HG02132.hp2 others(3): Show HG00597.hp2 HG02004.hp2 HG02132.hp2 HG02683.hp1 HG03704.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0003t0003g0118	6	284	0.0211	36	c.-27 others(57): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAGGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204883455	A A	ATATATAT others(29): Show ATATATATAAAATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0001 a0005c0013t0001g0001	1	54	0.0185	36	c.223 others(55): Show c.223-81696_223-81695insATATATAAAATATATATATATATATA TTTTTTTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054436	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0045 a0003c0005t0005g0045	1	54	0.0185	36	c.504 others(53): Show c.504+6747_504+6748insATATATATATATATATATATATATATAT ATATTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117916	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0015 a0010c0027t0015	a0010c0027t0015g0003 a0010c0027t0015g0003	1	54	0.0185	36	c.681 others(51): Show c.681-984_681-983insCACACACACACATACACACACACACACACA CACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205238850	A A	AAATATAT others(29): Show AAATATATATATATATATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0011 a0006c0014t0001g0011	1	54	0.0185	36	c.214 others(55): Show c.2141-6928_2141-6927insAATATATATATATATATATATATATA TATGTATGTG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205248380	T T	TTGGTGGT others(29): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	54	0.0185	36	c.218 others(55): Show c.2185+2559_2185+2594dupTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205383097	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0034 a0003c0009t0002g0034	1	54	0.0185	36	c.263 others(57): Show c.2631-17881_2631-17880insGAGATAGATAGATAGATAGATAGA TAGATAGATAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205383101	T T	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0038 a0003c0018t0002g0038	1	54	0.0185	36	c.263 others(57): Show c.2631-17877_2631-17876insGAGATAGATAGATAGATAGATAGA TAGATAGATAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205515558	C C	CGCATTGT others(29): Show CGCATTGTGGTTTTGATTTGCATTTCTCTAATTATCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02257.hp1 others(8): Show HG01109.hp2 HG01884.hp2 HG02257.hp1 HG02622.hp2 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0010 a0011	a0001c0002 a0001c0004 a0001c0008 others(6): Show a0001c0002 a0001c0004 a0001c0008 a0002c0001 a0003c0005 a0005c0013 a0009c0025 a0010c0027 a0011c0024	a0001c0002t0001 a0001c0004t0002 a0001c0004t0014 others(8): Show a0001c0002t0001 a0001c0004t0002 a0001c0004t0014 a0001c0004t0021 a0001c0008t0004 a0002c0001t0002 a0003c0005t0005 a0005c0013t0001 a0009c0025t0022 a0010c0027t0015 a0011c0024t0003	a0001c0002t0001g0008 a0001c0004t0002g0035 a0001c0004t0014g0016 others(8): Show a0001c0002t0001g0008 a0001c0004t0002g0035 a0001c0004t0014g0016 a0001c0004t0021g0051 a0001c0008t0004g0028 a0002c0001t0002g0019 a0003c0005t0005g0045 a0005c0013t0001g0001 a0009c0025t0022g0009 a0010c0027t0015g0003 a0011c0024t0003g0014	11	54	0.2037	36	c.318 others(57): Show c.3180+15529_3180+15530insATTGTGGTTTTGATTTGCATTTCT CTAATTATCAGC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34640708	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	100	0.0100	36	c.222 others(55): Show c.222+55609_222+55610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0004 a0001c0001t0082g0004	1	364	0.0028	36	c.49 others(45): Show c.498_*499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATACATA others(29): Show CATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19002.hp1 NA18999.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0358 a0001c0002t0001g0359	2	382	0.0052	36	c.295 others(53): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATGTAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18952.hp2 NA18980.hp1 others(2): Show HG02300.hp2 NA18952.hp2 NA18980.hp1 NA19009.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0275 a0001c0002t0001g0306 others(1): Show a0001c0002t0001g0009 a0001c0002t0001g0275 a0001c0002t0001g0306 a0001c0002t0001g0357	5	382	0.0131	36	c.295 others(53): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(29): Show ATATATATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00733.hp1 others(23): Show HG00323.hp2 HG00642.hp1 HG00733.hp1 HG01515.hp1 HG01934.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18983.hp2 NA18990.hp2 NA19004.hp2 NA19011.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 a0001c0002t0006	a0001c0001t0004g0001 a0001c0001t0004g0187 a0001c0001t0004g0195 others(21): Show a0001c0001t0004g0001 a0001c0001t0004g0187 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0225 a0001c0001t0004g0227 a0001c0001t0004g0286 a0001c0001t0004g0363 a0001c0001t0004g0365 a0001c0001t0021g0220 a0001c0001t0023g0228 a0001c0002t0006g0230	26	382	0.0681	36	c.295 others(53): Show c.295+7150_295+7151insCATATATATATATATATATGTATATATA TATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18960.hp1 HG01943.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0298 a0001c0002t0001g0348 a0001c0001t0001g0298 a0001c0002t0001g0348	2	382	0.0052	36	c.295 others(53): Show c.295+7137_295+7138insGTATATATATATATATATATATATATAT ATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01934.hp2 HG02300.hp2 others(1): Show HG00642.hp1 HG01934.hp2 HG02300.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0058 a0001c0002t0001g0098 a0001c0002t0001g0022 a0001c0002t0001g0058 a0001c0002t0001g0098	4	316	0.0127	36	c.175 others(53): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP16_chr15_65253099_65291883	65290933	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01168.hp2 others(1): Show HG00642.hp2 HG01069.hp2 HG01168.hp2 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0061 a0001c0002t0001g0003 a0001c0002t0001g0061	4	316	0.0127	36	c.-45 others(47): Show c.-4508_-4507insATATATATATATATATATATATATATATATATAT AT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		4051		chr15	TogoVar
PARP4_chr13_24415931_24517778	24460465	C C	CTCTGCTG others(29): Show CTCTGCTGCATGGGTGGGCTCTGCTGCACGGGTGGGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	362	0.0028	36	c.213 others(53): Show c.2134-330_2134-329insACCCACCCGTGCAGCAGAGCCCACCCAT GCAGCAGA	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24460501	C C	CTCTGCTG others(29): Show CTCTGCTGCATGGGTGGGCTCTGCTGCACGGGTGGGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0251 a0002c0009t0001g0251	1	362	0.0028	36	c.213 others(53): Show c.2134-366_2134-365insACCCACCCGTGCAGCAGAGCCCACCCAT GCAGCAGA	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	17/33			chr13	TogoVar
PARVB_chr22_44019302_44177939	44066778	T T	TTTCTCCT others(29): Show TTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0209 a0001c0001t0033g0209	1	332	0.0030	36	c.113 others(55): Show c.113-27148_113-27113dupTCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(29): Show TCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(30): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00735.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02559.hp1 HG02698.hp2 HG02735.hp2 HG03471.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp2 NA20905.hp1 NA21309.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0035 others(1): Show a0001c0001 a0001c0002 a0006c0035 a0007c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0043 a0001c0001t0059 a0001c0001t0077 a0001c0001t0080 a0001c0002t0001 a0001c0002t0006 a0001c0002t0021 a0006c0035t0003 a0007c0021t0011	a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0192 others(30): Show a0001c0001t0001g0096 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0244 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0315 a0001c0001t0002g0175 a0001c0001t0003g0080 a0001c0001t0004g0064 a0001c0001t0005g0204 a0001c0001t0005g0227 a0001c0001t0005g0306 a0001c0001t0007g0009 a0001c0001t0007g0221 a0001c0001t0007g0303 a0001c0001t0009g0091 a0001c0001t0012g0052 a0001c0001t0017g0081 a0001c0001t0020g0028 a0001c0001t0020g0294 a0001c0001t0026g0313 a0001c0001t0043g0163 a0001c0001t0059g0016 a0001c0001t0077g0307 a0001c0001t0080g0305 a0001c0002t0001g0263 a0001c0002t0006g0101 a0001c0002t0021g0092 a0006c0035t0003g0029 a0007c0021t0011g0301	33	332	0.0994	36	c.113 others(55): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(29): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02622.hp1 HG02922.hp2 others(2): Show HG00735.hp2 HG02622.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0004c0013 a0009c0017 a0001c0002 a0004c0013 a0009c0017	a0001c0002t0005 a0001c0002t0009 a0004c0013t0010 others(1): Show a0001c0002t0005 a0001c0002t0009 a0004c0013t0010 a0009c0017t0002	a0001c0002t0005g0137 a0001c0002t0005g0185 a0001c0002t0009g0045 others(2): Show a0001c0002t0005g0137 a0001c0002t0005g0185 a0001c0002t0009g0045 a0004c0013t0010g0132 a0009c0017t0002g0062	5	221	0.0226	36	c.-10 others(47): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0094 a0001c0003t0003g0094	1	221	0.0045	36	c.717 others(53): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCCCTCTTTCTTTC TTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01975.hp1 HG03041.hp2 HG01257.hp1 HG01975.hp1 HG03041.hp2	a0004 a0008 a0036 a0004 a0008 a0036	a0004c0101 a0008c0069 a0036c0019 a0004c0101 a0008c0069 a0036c0019	a0004c0101t0017 a0008c0069t0003 a0036c0019t0001 a0004c0101t0017 a0008c0069t0003 a0036c0019t0001	a0004c0101t0017g0098 a0008c0069t0003g0077 a0036c0019t0001g0141 a0004c0101t0017g0098 a0008c0069t0003g0077 a0036c0019t0001g0141	3	158	0.0190	36	c.313 others(55): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0005 a0010c0005	a0010c0005t0018 a0010c0005t0018	a0010c0005t0018g0107 a0010c0005t0018g0107	1	158	0.0063	36	c.367 others(57): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0020 a0020	a0020c0127 a0020c0128 a0020c0127 a0020c0128	a0020c0127t0008 a0020c0128t0001 a0020c0127t0008 a0020c0128t0001	a0020c0127t0008g0024 a0020c0128t0001g0020 a0020c0127t0008g0024 a0020c0128t0001g0020	2	158	0.0127	36	c.386 others(55): Show c.3867+7619_3867+7620insTTATATATATATATATATATATATAT ATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(29): Show GTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0007 a0007	a0007c0122 a0007c0122	a0007c0122t0002 a0007c0122t0002	a0007c0122t0002g0064 a0007c0122t0002g0064	1	158	0.0063	36	c.437 others(55): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATATATATAT ATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632582	C C	CATATATA others(29): Show CATATATATCTATATATATATATCTATATATATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	276	0.0036	36	c.58 others(47): Show c.5807_*5808insAGATATATATATAGATATATATATATAGATATAT AT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4133		chr11	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATAACAT others(29): Show TATAACATATATTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02723.hp1 HG02965.hp1 others(4): Show HG02486.hp2 HG02723.hp1 HG02965.hp1 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 others(1): Show a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0087	7	400	0.0175	36	c.70 others(47): Show c.7084_*7085insATAACATATATTACATATATGTAATACATATATA AC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX3_chr2_222194887_222303998	222265646	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18906.hp1 NA18952.hp1 others(1): Show HG04115.hp1 NA18906.hp1 NA18952.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0045 a0001c0001t0003g0019 a0001c0001t0003g0157 others(1): Show a0001c0001t0002g0045 a0001c0001t0003g0019 a0001c0001t0003g0157 a0001c0001t0011g0227	4	328	0.0122	36	c.586 others(55): Show c.586+28485_586+28520dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX3_chr2_222194887_222303998	222265691	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG01884.hp2 others(5): Show HG00280.hp2 HG01496.hp1 HG01884.hp2 HG01975.hp1 HG02293.hp1 HG02723.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0005	a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0001g0182 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0002g0129 a0001c0001t0002g0147 a0001c0001t0005g0316 a0001c0003t0005g0326	8	328	0.0244	36	c.586 others(55): Show c.586+28475_586+28476insTCTCTCTCCCTTCCTTCCTTCCTTCC TTCCTTCCTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	4/8			chr2	TogoVar
PAX7_chr1_18625846_18753866	18635511	T T	TAGGAAGG others(29): Show TAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	302	0.0033	36	c.451 others(51): Show c.451+288_451+289insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBK_chr8_27804624_27842817	27816343	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp2 HG02922.hp2 HG03540.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0002 a0002c0002t0002 a0003c0004t0002	a0002c0002t0002g0078 a0003c0004t0002g0143 a0002c0002t0002g0078 a0003c0004t0002g0143	2	392	0.0051	36	c.595 others(53): Show c.595+4221_595+4222insTATATATATATATATATATATATATATA TATATATA	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	6/7			chr8	TogoVar
PBRM1_chr3_52540367_52690913	52683812	T T	TCTCCAAA others(29): Show TCTCCAAAAAAAAACAAAAAAAAAGTGCACTTGAGAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	300	0.0033	36	c.-16 others(53): Show c.-16+1936_-16+1937insGTCTCAAGTGCACTTTTTTTTTGTTTTT TTTTGGAG	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	1/31			chr3	TogoVar

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Search Results (Total: 8848 hits)