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
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0048	1	406	0.0025	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235281	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02630.hp2 others(6): Show HG02055.hp1 HG02145.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03098.hp2 HG03516.hp1 NA18522.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0005 a0013c0019 a0001c0001 a0001c0005 a0013c0019	a0001c0001t0005 a0001c0001t0006 a0001c0005t0005 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0005t0005 a0013c0019t0024	a0001c0001t0005g0031 a0001c0001t0005g0385 a0001c0001t0006g0012 others(5): Show a0001c0001t0005g0031 a0001c0001t0005g0385 a0001c0001t0006g0012 a0001c0001t0006g0037 a0001c0001t0006g0326 a0001c0005t0005g0035 a0001c0005t0005g0344 a0013c0019t0024g0392	9	406	0.0222	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAGG GAGGGAAGGAAGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17235289	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18940.hp1 HG03579.hp1 NA18940.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0028 a0001c0002 a0009c0028	a0001c0002t0026 a0009c0028t0001 a0001c0002t0026 a0009c0028t0001	a0001c0002t0026g0387 a0009c0028t0001g0125 a0001c0002t0026g0387 a0009c0028t0001g0125	2	406	0.0049	40	c.131 others(59): Show c.1314-2022_1314-2021insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAGGGA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135563345	A A	AACAGGTG others(33): Show AACAGGTGGGCAGGTGAGCAGGTGGTTAGGTGAACAGGTGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18944.hp2 NA18994.hp2 others(1): Show HG02135.hp1 NA18944.hp2 NA18994.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	4	464	0.0086	40	c.310 others(55): Show c.310+452_310+453insACAGGTGGGCAGGTGAGCAGGTGGTTAGGT GAACAGGTGG	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding	3/6			chr9	TogoVar
PAFAH1B1_chr17_2588654_2690615	2664665	G G	GCGCGCTC others(33): Show GCGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	280	0.0036	40	c.33- others(53): Show c.33-706_33-705insGCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	PAFAH1B1	ENSG00000007168.14	transcript	ENST00000397195.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
PAK2_chr3_196734857_196837647	196762154	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01070.hp1 others(46): Show HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp1 NA18954.hp1 NA18970.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19043.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(20): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0053 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0002t0010 a0001c0002t0057 a0001c0002t0059 a0002c0006t0010	a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 others(46): Show a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0007g0071 a0001c0001t0012g0128 a0001c0001t0012g0129 a0001c0001t0016g0073 a0001c0001t0016g0075 a0001c0001t0016g0110 a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0103 a0001c0001t0018g0084 a0001c0001t0018g0086 a0001c0001t0018g0108 a0001c0001t0026g0077 a0001c0001t0026g0078 a0001c0001t0053g0006 a0001c0001t0058g0099 a0001c0001t0060g0107 a0001c0001t0061g0102 a0001c0001t0062g0087 a0001c0001t0063g0109 a0001c0001t0064g0112 a0001c0001t0065g0074 a0001c0001t0066g0089 a0001c0001t0067g0055 a0001c0001t0068g0093 a0001c0001t0069g0072 a0001c0002t0010g0105 a0001c0002t0057g0076 a0001c0002t0059g0113 a0002c0006t0010g0104	49	178	0.2753	40	c.-21 others(59): Show c.-21-20452_-21-20451insTGATGGCGGCTGGGAAGAGGCGCTCC TCACTTCCTAGATG	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811321	T T	TCCTTTCC others(33): Show TCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01255.hp2 HG02074.hp2 others(12): Show HG01169.hp1 HG01255.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02895.hp1 HG02897.hp2 HG03927.hp1 NA18940.hp1 NA18954.hp1 NA18980.hp1 NA19005.hp2 NA19085.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0068	a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 others(12): Show a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0011g0152 a0001c0001t0011g0154 a0001c0001t0018g0086 a0001c0001t0018g0108 a0001c0001t0045g0021 a0001c0001t0047g0011 a0001c0001t0049g0027 a0001c0001t0068g0093	15	178	0.0843	40	c.773 others(55): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTTCCT TCCCTCCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK5_chr20_9532370_9844076	9766387	T T	TATATTCT others(33): Show TATATTCTACTTACTTGAATATATATATTCTACTTACTTGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18946.hp2 HG03579.hp2 NA18946.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0018 a0002c0001t0001 a0001c0004t0018 a0002c0001t0001	a0001c0004t0018g0040 a0002c0001t0001g0010 a0001c0004t0018g0040 a0002c0001t0001g0010	2	208	0.0096	40	c.-16 others(61): Show c.-161-54953_-161-54952insTCAAGTAAGTAGAATATATATATT CAAGTAAGTAGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9766416	T T	TATATTCT others(33): Show TATATTCTACTTACTTGAATATATATATTCTACTTACTTGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0141 a0002c0007t0005g0141	1	208	0.0048	40	c.-16 others(61): Show c.-161-54982_-161-54981insTCAAGTAAGTAGAATATATATATT CAAGTAAGTAGAATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(33): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03486.hp1 HG02523.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0030 a0001c0001t0002 a0001c0004t0030	a0001c0001t0002g0077 a0001c0004t0030g0228 a0001c0001t0002g0077 a0001c0004t0030g0228	2	308	0.0065	40	c.-29 others(59): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508854	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG04228.hp1 HG01074.hp2 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0029 a0001c0001t0001 a0004c0005t0029	a0001c0001t0001g0084 a0004c0005t0029g0232 a0001c0001t0001g0084 a0004c0005t0029g0232	2	308	0.0065	40	c.-29 others(59): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(33): Show GAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01081.hp1 others(13): Show HG00597.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01952.hp1 HG02559.hp2 HG03942.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0006 a0002c0007 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0002t0010 a0001c0004t0002 a0001c0004t0005 a0002c0003t0001 a0002c0003t0005 a0002c0006t0006 a0002c0007t0001 a0002c0007t0004 a0002c0012t0019	a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0002g0146 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0002g0146 a0001c0001t0004g0060 a0001c0001t0008g0008 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0010g0144 a0001c0004t0002g0131 a0001c0004t0005g0116 a0002c0003t0001g0036 a0002c0003t0005g0132 a0002c0006t0006g0155 a0002c0007t0001g0025 a0002c0007t0004g0027 a0002c0012t0019g0141	16	156	0.1026	40	c.909 others(59): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	156	0.0064	40	c.909 others(59): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	222	0.0045	40	c.583 others(59): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096426	A A	AATTTATT others(33): Show AATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	222	0.0045	40	c.583 others(59): Show c.583-39678_583-39677insTATTTATTTATTTATTTATTTATTTA TTTATTTATTTATT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0198 a0001c0006t0002g0198	1	222	0.0045	40	c.583 others(55): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAGGA others(33): Show GGAAAGGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	380	0.0026	40	c.45+ others(55): Show c.45+6336_45+6337insGGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALM_chr19_703935_753329	731573	A A	ATCAGAAG others(33): Show ATCAGAAGGGCTCAGGGAAGCAGGAGACCCGCCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0239 a0001c0003t0001g0239	1	404	0.0025	40	c.420 others(55): Show c.420+346_420+385dupAGCAGGAGACCCGCCTGGGGGCGTCAGAAG GGCTCAGGGA	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAN3_chr13_28133545_28300335	28235696	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0252 a0001c0001t0043g0252	1	252	0.0040	40	c.100 others(61): Show c.1000+15345_1000+15346insCACACACACACACACACACACACA CACACACACACACACA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	416	0.0024	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	416	0.0024	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	416	0.0024	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAOX_chr10_133374262_133396694	133379037	T T	TTCCCCGC others(33): Show TTCCCCGCGCCTCCCCGCCCCTCCCCGCCCCTCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	346	0.0029	40	c.-28 others(49): Show c.-280_-279insTCCCCGCGCCTCCCCGCCCCTCCCCGCCCCTCCCCG CCCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		224		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379165	C C	CCCTCCCC others(33): Show CCCTCCCCTCCCCTCCCCGCGCCTCCCCTCCCCTCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	346	0.0029	40	c.-15 others(49): Show c.-152_-151insCCTCCCCTCCCCTCCCCGCGCCTCCCCTCCCCTCCC CGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		96		chr10	TogoVar
PAPPA2_chr1_176458175_176850601	176623758	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	118	0.0085	40	c.199 others(61): Show c.1991+28166_1991+28167insCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03654.hp2 HG01934.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0230 a0001c0001t0006g0287 a0001c0001t0001g0230 a0001c0001t0006g0287	2	372	0.0054	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	372	0.0027	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATATGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	372	0.0027	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03453.hp1 NA18992.hp1 others(1): Show HG02040.hp1 HG03453.hp1 NA18992.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 a0001c0003t0002	a0001c0001t0001g0300 a0001c0001t0005g0320 a0001c0001t0033g0101 others(1): Show a0001c0001t0001g0300 a0001c0001t0005g0320 a0001c0001t0033g0101 a0001c0003t0002g0246	4	372	0.0108	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02735.hp1 HG01361.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0268 a0001c0001t0001g0103 a0001c0001t0001g0268	2	372	0.0054	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG01952.hp2 others(1): Show HG01106.hp1 HG01433.hp2 HG01952.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0296 a0001c0001t0004g0073 a0001c0001t0004g0110 others(1): Show a0001c0001t0001g0296 a0001c0001t0004g0073 a0001c0001t0004g0110 a0001c0001t0004g0232	4	372	0.0108	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTCTTTCT others(33): Show CTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0182 a0001c0003t0003g0182	1	284	0.0035	40	c.-27 others(59): Show c.-277+1880_-277+1881insTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTTCC others(33): Show CTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	284	0.0035	40	c.-27 others(59): Show c.-277+1887_-277+1888insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02451.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0216 a0002c0002t0009g0227 a0001c0001t0001g0216 a0002c0002t0009g0227	2	284	0.0070	40	c.-27 others(59): Show c.-277+1909_-277+1910insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	284	0.0035	40	c.-27 others(59): Show c.-277+1918_-277+1957dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	2	446	0.0045	40	c.-41 others(51): Show c.-4134_-4133insATATATATATATATATATATTTTTTTTTTTTTTT TTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205383097	T T	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	54	0.0185	40	c.263 others(61): Show c.2631-17881_2631-17880insGAGAGAGATAGATAGATAGATAGA TAGATAGATAGATAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205581378	T T	TATATATA others(33): Show TATATATAAATATATATAAATATATATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0043 a0004c0011t0003g0043	1	54	0.0185	40	c.326 others(61): Show c.3260+28003_3260+28042dupTAAGTATATATAAATATATAAATA TATATAAATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0328 a0001c0002t0001g0328	1	382	0.0026	40	c.295 others(57): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(33): Show ATATATATATATATATACATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	382	0.0026	40	c.295 others(57): Show c.295+7150_295+7151insCATATATATATATATATATATATGTATA TATATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(33): Show ATATATATATATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03492.hp1 HG01192.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0194 a0001c0004t0004g0192 a0001c0001t0004g0194 a0001c0004t0004g0192	2	382	0.0052	40	c.295 others(57): Show c.295+7150_295+7151insCATATATATATATATATATGTATATATA TATATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	382	0.0026	40	c.295 others(57): Show c.295+7137_295+7138insGTATATATATATATATATATATATATAT ATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP10_chr8_143972158_143991460	143981058	A A	AAAATTCA others(33): Show AAAATTCAAGCATACCATTTAAAGTCATCAAGGTGCTCACT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02922.hp2 HG02145.hp1 HG02622.hp1 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217 a0002c0002t0003g0215 a0002c0002t0003g0216 a0002c0002t0003g0217	3	380	0.0079	40	c.255 others(59): Show c.2556+1834_2556+1873dupAGTGAGCACCTTGATGACTTTAAATG GTATGCTTGAATTT	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981309	G G	GTGGTGGT others(33): Show GTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	380	0.0026	40	c.255 others(59): Show c.2556+1583_2556+1622dupTCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGAT others(33): Show ATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp2 HG03098.hp2 HG00738.hp1 HG02922.hp2 HG03098.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0003 a0004c0004t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0001	a0002c0002t0002g0232 a0002c0002t0003g0215 a0004c0004t0001g0178 a0002c0002t0002g0232 a0002c0002t0003g0215 a0004c0004t0001g0178	3	380	0.0079	40	c.255 others(59): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGGT others(33): Show ATGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	380	0.0026	40	c.255 others(59): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981355	A A	ATGATGGT others(33): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0292 a0002c0007t0003g0293 a0002c0007t0003g0292 a0002c0007t0003g0293	2	380	0.0053	40	c.255 others(59): Show c.2556+1576_2556+1577insCCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981429	G G	GTGGTGAT others(33): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02572.hp1 HG02165.hp2 HG02572.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0014 a0002c0002 a0003c0014	a0002c0002t0003 a0003c0014t0001 a0002c0002t0003 a0003c0014t0001	a0002c0002t0003g0223 a0003c0014t0001g0040 a0002c0002t0003g0223 a0003c0014t0001g0040	2	380	0.0053	40	c.255 others(59): Show c.2556+1502_2556+1503insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGGT others(33): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01243.hp2 HG01070.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0246 a0002c0002t0002g0249	2	380	0.0053	40	c.255 others(59): Show c.2556+1380_2556+1419dupTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGGT others(33): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0218 a0002c0002t0003g0218	1	380	0.0026	40	c.255 others(59): Show c.2556+1419_2556+1420insTCACCACCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar

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