Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18991.hp1 NA19084.hp2 NA18943.hp1 NA18991.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0138 a0001c0001t0013g0275 a0001c0001t0013g0107 a0001c0001t0013g0138 a0001c0001t0013g0275	3	372	0.0081	19	c.381 others(31): Show c.381+6_381+24dupAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300898	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG00280.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0002g0181 a0001c0001t0001g0217 a0001c0001t0002g0181	2	284	0.0070	19	c.-27 others(38): Show c.-277+1842_-277+1843insCTCTCTCTCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300898	T T	TTTCTCTC others(12): Show TTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	284	0.0035	19	c.-27 others(38): Show c.-277+1843_-277+1844insTCTCTCTCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301859	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	284	0.0035	19	c.-27 others(38): Show c.-277+2822_-277+2840dupTTTTTTTTTTTTTTTTTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	2	362	0.0055	19	c.-30 others(30): Show c.-3007_-3006insATATATATTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR8_chr6_52357151_52412777	52406300	A A	AGAGAGGA others(12): Show AGAGAGGAGAAGGGAGGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0006 a0001c0003t0083g0006	1	390	0.0026	19	c.20 others(30): Show c.2027_*2028insGAGAAGGGAGGGAGGAGAG	PAQR8	ENSG00000170915.9	transcript	ENST00000442253.3	protein_coding	2/2	2028	INFO_REALIGN_3_PRIME	chr6	TogoVar
PARD3B_chr2_204540475_205625162	204643115	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0010 a0003c0005t0001g0010	1	54	0.0185	19	c.121 others(38): Show c.121-43063_121-43045dupAAAAAAAAAAAAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054437	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0018 a0001c0022t0018	a0001c0022t0018g0020 a0001c0022t0018g0020	1	54	0.0185	19	c.504 others(36): Show c.504+6747_504+6748insATATATATATATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22			chr2	TogoVar
PARD3_chr10_34104561_34820296	34432041	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03041.hp2 HG00099.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0022 a0001c0015t0001 a0001c0003t0022 a0001c0015t0001	a0001c0003t0022g0080 a0001c0015t0001g0065 a0001c0003t0022g0080 a0001c0015t0001g0065	2	100	0.0200	19	c.714 others(38): Show c.714+18257_714+18275dupTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	5/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34640708	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG02280.hp1 HG02886.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0017 a0005c0007t0008 a0001c0001t0017 a0005c0007t0008	a0001c0001t0017g0040 a0005c0007t0008g0043 a0001c0001t0017g0040 a0005c0007t0008g0043	2	100	0.0200	19	c.222 others(38): Show c.222+55591_222+55609dupTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666796	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0073 a0001c0002t0003g0056 a0001c0001t0001g0073 a0001c0002t0003g0056	2	100	0.0200	19	c.222 others(38): Show c.222+29521_222+29522insATATATATATTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02129.hp1 NA18951.hp1 others(3): Show HG00423.hp1 HG02129.hp1 NA18951.hp1 NA19003.hp1 NA19066.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0074 a0001c0001t0075 a0001c0001t0020 a0001c0001t0074 a0001c0001t0075	a0001c0001t0020g0001 a0001c0001t0020g0089 a0001c0001t0020g0101 others(3): Show a0001c0001t0020g0001 a0001c0001t0020g0089 a0001c0001t0020g0101 a0001c0001t0020g0110 a0001c0001t0074g0001 a0001c0001t0075g0192	6	364	0.0165	19	c.48 others(28): Show c.480_*498dupTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARG_chr10_49813279_49947027	49927369	G G	GGAAAGAA others(12): Show GGAAAGAAGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0142 a0004c0006t0001g0142	1	292	0.0034	19	c.145 others(38): Show c.1456-4701_1456-4700insTTTCTTTCCTTCTTCTTTC	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	4/17			chr10	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02895.hp1 HG03139.hp1 others(1): Show HG00597.hp2 HG02895.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0019 a0001c0001t0004g0023 a0001c0001t0007g0052 others(1): Show a0001c0001t0002g0019 a0001c0001t0004g0023 a0001c0001t0007g0052 a0001c0001t0007g0066	4	169	0.0237	19	c.148 others(40): Show c.1481-18627_1481-18609dupTTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0266 a0001c0001t0006g0266	1	366	0.0027	19	c.-33 others(30): Show c.-3319_-3318insAAAATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0036 a0036	a0036c0033 a0036c0033	a0036c0033t0001 a0036c0033t0001	a0036c0033t0001g0307 a0036c0033t0001g0307	1	356	0.0028	19	c.187 others(36): Show c.187-4895_187-4877dupTTTTTTTTTTTTTTTTTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp1 HG01192.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0159 a0001c0002t0001g0088 a0001c0001t0001g0159 a0001c0002t0001g0088	2	316	0.0063	19	c.175 others(36): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP4_chr13_24415931_24517778	24425206	T T	TGGGAGGA others(12): Show TGGGAGGATGGCTTGAGCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03098.hp1 others(3): Show HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG03486.hp2 HG03579.hp2	a0012 a0025 a0012 a0025	a0012c0014 a0012c0031 a0025c0054 a0012c0014 a0012c0031 a0025c0054	a0012c0014t0001 a0012c0031t0001 a0025c0054t0001 a0012c0014t0001 a0012c0031t0001 a0025c0054t0001	a0012c0014t0001g0329 a0012c0014t0001g0330 a0012c0014t0001g0331 others(3): Show a0012c0014t0001g0329 a0012c0014t0001g0330 a0012c0014t0001g0331 a0012c0014t0001g0332 a0012c0031t0001g0044 a0025c0054t0001g0205	6	362	0.0166	19	c.497 others(38): Show c.4979+1241_4979+1259dupGGGCTCAAGCCATCCTCCC	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	33/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02602.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0002 a0001c0017 a0002c0002	a0001c0017t0001 a0002c0002t0001 a0001c0017t0001 a0002c0002t0001	a0001c0017t0001g0060 a0002c0002t0001g0051 a0001c0017t0001g0060 a0002c0002t0001g0051	2	362	0.0055	19	c.256 others(36): Show c.2563-269_2563-268insATATATATATATATATATA	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARVA_chr11_12372571_12540356	12406661	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0169 a0001c0002t0050g0169	1	286	0.0035	19	c.136 others(38): Show c.136+28887_136+28905dupTTTTTTTTTTTTTTTTTTT	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44151029	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0018 a0001c0002t0044g0018	1	332	0.0030	19	c.775 others(34): Show c.775-444_775-426dupAAAAAAAAAAAAAAAAAAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PATJ_chr1_61737480_62168915	61777703	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0016 a0016	a0016c0110 a0016c0110	a0016c0110t0002 a0016c0110t0002	a0016c0110t0002g0134 a0016c0110t0002g0134	1	158	0.0063	19	c.849 others(36): Show c.849+2372_849+2373insCTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61777724	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0009 a0001c0059t0009	a0001c0059t0009g0045 a0001c0059t0009g0045	1	158	0.0063	19	c.849 others(36): Show c.849+2393_849+2394insTTTTTTTTTTTTTTTCTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61796671	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02451.hp1 others(1): Show HG02145.hp2 HG02280.hp2 HG02451.hp1 HG03130.hp2	a0002 a0013 a0015 a0002 a0013 a0015	a0002c0020 a0002c0030 a0013c0004 others(1): Show a0002c0020 a0002c0030 a0013c0004 a0015c0039	a0002c0020t0025 a0002c0030t0005 a0013c0004t0001 others(1): Show a0002c0020t0025 a0002c0030t0005 a0013c0004t0001 a0015c0039t0002	a0002c0020t0025g0112 a0002c0030t0005g0121 a0013c0004t0001g0028 others(1): Show a0002c0020t0025g0112 a0002c0030t0005g0121 a0013c0004t0001g0028 a0015c0039t0002g0109	4	158	0.0253	19	c.126 others(36): Show c.1261-613_1261-595dupCTTTCTTTCTTTCTTTCTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02647.hp2 HG03453.hp2 HG01074.hp2 HG02647.hp2 HG03453.hp2	a0001 a0028 a0029 a0001 a0028 a0029	a0001c0024 a0028c0136 a0029c0133 a0001c0024 a0028c0136 a0029c0133	a0001c0024t0001 a0028c0136t0013 a0029c0133t0014 a0001c0024t0001 a0028c0136t0013 a0029c0133t0014	a0001c0024t0001g0139 a0028c0136t0013g0099 a0029c0133t0014g0101 a0001c0024t0001g0139 a0028c0136t0013g0099 a0029c0133t0014g0101	3	158	0.0190	19	c.396 others(38): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62062392	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03492.hp2 HG01496.hp2 HG03492.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0051 a0003c0003 a0009c0051	a0003c0003t0003 a0009c0051t0003 a0003c0003t0003 a0009c0051t0003	a0003c0003t0003g0094 a0009c0051t0003g0092 a0003c0003t0003g0094 a0009c0051t0003g0092	2	158	0.0127	19	c.412 others(40): Show c.4125+11343_4125+11361dupTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	31/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62067123	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG03041.hp1 HG01109.hp2 HG02258.hp2 HG03041.hp1	a0026 a0054 a0059 a0026 a0054 a0059	a0026c0134 a0054c0129 a0059c0087 a0026c0134 a0054c0129 a0059c0087	a0026c0134t0002 a0054c0129t0002 a0059c0087t0007 a0026c0134t0002 a0054c0129t0002 a0059c0087t0007	a0026c0134t0002g0105 a0054c0129t0002g0147 a0059c0087t0007g0075 a0026c0134t0002g0105 a0054c0129t0002g0147 a0059c0087t0007g0075	3	158	0.0190	19	c.412 others(40): Show c.4126-12324_4126-12306dupTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	31/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62099347	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0007 a0007	a0007c0124 a0007c0124	a0007c0124t0001 a0007c0124t0001	a0007c0124t0001g0003 a0007c0124t0001g0003	1	158	0.0063	19	c.437 others(38): Show c.4378-9078_4378-9060dupTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62143438	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0065 a0003c0009t0011g0065	1	158	0.0063	19	c.527 others(38): Show c.5272-4834_5272-4816dupTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02040.hp2 HG03130.hp2 others(2): Show HG01192.hp2 HG02040.hp2 HG03130.hp2 NA19030.hp1 NA19056.hp2	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0015 a0021	a0002c0061 a0005c0006 a0007c0124 others(2): Show a0002c0061 a0005c0006 a0007c0124 a0015c0039 a0021c0112	a0002c0061t0006 a0005c0006t0001 a0007c0124t0001 others(2): Show a0002c0061t0006 a0005c0006t0001 a0007c0124t0001 a0015c0039t0002 a0021c0112t0024	a0002c0061t0006g0046 a0005c0006t0001g0079 a0007c0124t0001g0003 others(2): Show a0002c0061t0006g0046 a0005c0006t0001g0079 a0007c0124t0001g0003 a0015c0039t0002g0109 a0021c0112t0024g0006	5	158	0.0317	19	c.527 others(38): Show c.5272-3513_5272-3512insTATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62144773	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0152 a0004c0011t0001g0152	1	158	0.0063	19	c.527 others(38): Show c.5272-3511_5272-3510insTATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PAWR_chr12_79579879_79695964	79638896	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0034 a0005c0007t0034	a0005c0007t0034g0255 a0005c0007t0034g0255	1	256	0.0039	19	c.517 others(38): Show c.517-17690_517-17689insAAAAAAAAAAAAAAAAATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX6_chr11_31784026_31816322	31815029	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03453.hp2 HG01981.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0049 a0001c0001t0003g0059 a0001c0001t0002g0049 a0001c0001t0003g0059	2	376	0.0053	19	c.-42 others(30): Show c.-4232_-4231insGAGAGAGAGAGAGAGAGAG	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3708		chr11	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02055.hp2 HG03041.hp2 others(1): Show HG00673.hp1 HG02055.hp2 HG03041.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0002g0080 others(1): Show a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0002g0080 a0001c0001t0002g0085	4	300	0.0133	19	c.54 others(30): Show c.5425_*5443dupTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19081.hp2 HG01978.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0243 a0001c0002t0001g0154 a0001c0002t0001g0243	2	300	0.0067	19	c.108 others(38): Show c.1088-1961_1088-1943dupTTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164724670	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	184	0.0054	19	c.266 others(38): Show c.266-67803_266-67785dupTTTTTTTTTTTTTTTTTTT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCBD2_chr5_134900131_134967644	134904246	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0298 a0001c0001t0026g0298	1	330	0.0030	19	c.-89 others(28): Show c.-894_-893insAAAAAAAAAAAAAAAAAAA	PCBD2	ENSG00000132570.15	transcript	ENST00000254908.11	protein_coding		884		chr5	TogoVar
PCBP2_chr12_53447102_53486162	53452150	T T	TCCCGCCC others(12): Show TCCCGCCCGCCCGCCCTCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	348	0.0029	19	c.-28 others(28): Show c.-280_-262dupCGCCCGCCCGCCCTCCGCC	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	1/15	2610	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP2_chr12_53447102_53486162	53479671	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0002 a0001c0001t0031g0002	1	348	0.0029	19	c.24 others(28): Show c.241_*242insTTTTGGTTTTTTTTTTTTT	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	15/15	242	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP3_chr21_45638725_45947450	45642967	A A	ACCCGCCC others(12): Show ACCCGCCCGCCCGCCAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0014g0290 a0001c0003t0014g0291	2	292	0.0069	19	c.-11 others(30): Show c.-1180_-1179insCCCGCCCGCCCGCCAAATC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		757		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646089	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	292	0.0034	19	c.-27 others(38): Show c.-279+2222_-279+2240dupTCTCTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100188325	A A	AAAACAAA others(12): Show AAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0080 a0001c0002t0003g0080	1	174	0.0058	19	c.469 others(38): Show c.469-21004_469-21003insCAAAACAAAACAAAACAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100400630	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp2 HG01109.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0115 a0001c0001t0001g0017 a0001c0001t0001g0115	2	174	0.0115	19	c.174 others(40): Show c.1747-24986_1747-24985insTTTTTTTTTTTTTTTTTTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100422070	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 NA19064.hp2 HG00639.hp2 HG01169.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0002t0001g0073 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0002t0001g0073	3	174	0.0172	19	c.174 others(38): Show c.1747-3561_1747-3560insCTTTCTTTCTTTCTTTCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100469211	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18947.hp2 HG02486.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0145 a0001c0001t0001g0067 a0001c0001t0001g0145	2	174	0.0115	19	c.189 others(40): Show c.1899+19922_1899+19923insAAAAAAAAAAAAAAAAAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92111219	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02300.hp1 HG02602.hp1 others(6): Show HG01074.hp1 HG02300.hp1 HG02602.hp1 NA18955.hp1 NA18983.hp1 NA18988.hp1 NA19007.hp1 NA19085.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0129 others(6): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0002g0102 a0001c0001t0003g0069 a0001c0001t0003g0079 a0001c0001t0003g0126 a0001c0001t0004g0090 a0001c0001t0010g0136	9	154	0.0584	19	c.303 others(40): Show c.3034-90142_3034-90124dupAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG03139.hp1 HG02451.hp1 HG02895.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0024 a0001c0002t0008 a0001c0001t0005 a0001c0001t0024 a0001c0002t0008	a0001c0001t0005g0056 a0001c0001t0024g0014 a0001c0002t0008g0004 a0001c0001t0005g0056 a0001c0001t0024g0014 a0001c0002t0008g0004	3	154	0.0195	19	c.314 others(40): Show c.3145-12568_3145-12567insATATATATATATATTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92399192	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	154	0.0065	19	c.334 others(40): Show c.3343+11275_3343+11276insAAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01934.hp2 HG01981.hp2 others(4): Show HG00741.hp2 HG01934.hp2 HG01981.hp2 HG02602.hp2 HG02615.hp1 HG03669.hp2 NA18945.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0007c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0002c0002t0024 a0004c0004t0001 a0007c0007t0002	a0001c0001t0001g0044 a0001c0001t0003g0015 a0002c0002t0005g0016 others(4): Show a0001c0001t0001g0044 a0001c0001t0003g0015 a0002c0002t0005g0016 a0002c0002t0024g0069 a0004c0004t0001g0045 a0004c0004t0001g0059 a0007c0007t0002g0011	7	102	0.0686	19	c.350 others(40): Show c.3501+14540_3501+14541insTATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54296144	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02622.hp2 others(1): Show HG02486.hp1 HG02486.hp2 HG02622.hp2 HG03486.hp2	a0002 a0004 a0015 others(1): Show a0002 a0004 a0015 a0024	a0002c0021 a0004c0004 a0015c0013 others(1): Show a0002c0021 a0004c0004 a0015c0013 a0024c0029	a0002c0021t0021 a0004c0004t0025 a0015c0013t0003 others(1): Show a0002c0021t0021 a0004c0004t0025 a0015c0013t0003 a0024c0029t0011	a0002c0021t0021g0047 a0004c0004t0025g0032 a0015c0013t0003g0035 others(1): Show a0002c0021t0021g0047 a0004c0004t0025g0032 a0015c0013t0003g0035 a0024c0029t0011g0099	4	102	0.0392	19	c.876 others(38): Show c.876+21108_876+21126dupTTTTTTTTTTTTTTTTTTT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar

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