Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	374	0.0027	33	c.30 others(44): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PABPC4_chr1_39555816_39581790	39573075	T T	TTTCAGTG others(26): Show TTTCAGTGAGGTATTGCATCAAAGTTATCAAGTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	374	0.0027	33	c.194 others(48): Show c.194-522_194-490dupGACTTGATAACTTTGATGCAATACCTCACT GAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding	1/15			chr1	TogoVar
PABPC4_chr1_39555816_39581790	39580918	G G	GGCGTTTT others(26): Show GGCGTTTTTTTATTTGTTATTCTTTTTTTATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	374	0.0027	33	c.-49 others(44): Show c.-4968_-4967insAAGATAAAAAAAGAATAACAAATAAAAAAACGC	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		4129		chr1	TogoVar
PACRGL_chr4_20695458_20737557	20729590	C C	CTTGTTTT others(26): Show CTTGTTTTAATCTTTAATCTTGTTTTAATCTTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0167 a0001c0001t0049g0167	1	412	0.0024	33	c.22 others(44): Show c.2255_*2256insTAATCTTTAATCTTGTTTTAATCTTGTTTGTTT	PACRGL	ENSG00000163138.19	transcript	ENST00000503585.6	protein_coding	9/9	2256	INFO_REALIGN_3_PRIME	chr4	TogoVar
PACRG_chr6_162722974_163320500	162852001	G G	GAGGAAGG others(26): Show GAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02818.hp2 HG03195.hp2 HG01934.hp2 HG02818.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0003g0014	3	130	0.0231	33	c.291 others(52): Show c.291+37723_291+37724insAAGGAAGGAAGGAAGGAAAGGAAGGA AGGAAGG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162852005	G G	GAGGAAGG others(26): Show GAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	130	0.0077	33	c.291 others(52): Show c.291+37737_291+37738insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163084851	C C	CATATATA others(26): Show CATATATATAATATATATATAATATATATATTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01109.hp1 others(47): Show HG00280.hp1 HG00323.hp1 HG01109.hp1 HG01243.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18955.hp2 NA18959.hp1 NA18981.hp2 NA18989.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0018 a0001c0003t0009 a0001c0004t0003 a0001c0004t0011	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 others(47): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0005g0078 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0007g0094 a0001c0001t0008g0069 a0001c0002t0018g0063 a0001c0003t0009g0080 a0001c0004t0003g0045 a0001c0004t0011g0034	50	130	0.3846	33	c.464 others(50): Show c.464-4389_464-4388insAATATATATATTATATATATATAATATA TATAT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163087535	A A	AAGGATGG others(26): Show AAGGATGGAGACCAGGACCAGGGGAGAGGAGGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	130	0.0077	33	c.464 others(50): Show c.464-1696_464-1664dupGAGGTGAGGATGGAGACCAGGACCAGGG GAGAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163087596	A A	AAGGTGAG others(26): Show AAGGTGAGGATGGAGACCAGGACCAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01109.hp1 others(55): Show HG00280.hp1 HG00323.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03704.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18945.hp2 NA18955.hp2 NA18959.hp1 NA18981.hp2 NA18989.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0018 a0001c0003t0009 a0001c0004t0003 a0001c0004t0011	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(55): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0036 a0001c0001t0003g0068 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0004g0082 a0001c0001t0005g0078 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0007g0094 a0001c0001t0008g0069 a0001c0002t0018g0063 a0001c0003t0009g0080 a0001c0004t0003g0045 a0001c0004t0011g0034	58	130	0.4462	33	c.464 others(50): Show c.464-1642_464-1641insCCAGGGGAGAGGAGGTGAGGATGGAGAC CAGGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163300808	A A	ATGAGTTT others(26): Show ATGAGTTTAGTAGGGCCACGTCCACTACTTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01243.hp1 others(34): Show HG00280.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp2 NA18522.hp2 NA18971.hp2 NA19012.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0010 a0001c0003t0003 a0001c0003t0009	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0004g0077 a0001c0001t0005g0081 a0001c0001t0009g0088 a0001c0002t0010g0027 a0001c0003t0003g0065 a0001c0003t0009g0080	37	130	0.2846	33	c.614 others(52): Show c.614-13994_614-13993insACTTCCCGTGAGTTTAGTAGGGCCAC GTCCACT	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163301038	G G	GCCCGTGA others(26): Show GCCCGTGAGTTTAGTAGGGCCACGTCCGCTGCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01243.hp1 others(31): Show HG00280.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03704.hp2 NA18522.hp2 NA18971.hp2 NA19012.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0003t0003 a0001c0003t0009	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0091 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0004g0077 a0001c0001t0005g0081 a0001c0001t0009g0088 a0001c0003t0003g0065 a0001c0003t0009g0080	34	130	0.2615	33	c.614 others(52): Show c.614-13763_614-13731dupCGCTGCTTCCCGTGAGTTTAGTAGGG CCACGTC	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACS1_chr11_66065272_66249744	66164596	A A	ATATATAA others(26): Show ATATATAATACATATATATATATGTATTATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00438.hp1 others(76): Show HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0008t0002	a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0290 others(76): Show a0001c0001t0001g0242 a0001c0001t0001g0266 a0001c0001t0001g0290 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0036 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0006g0255 a0001c0001t0006g0292 a0001c0008t0002g0254	79	322	0.2453	33	c.357 others(52): Show c.357-28870_357-28869insATGTATTATATATTATATAATACATA TATATAT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	312	0.0032	33	c.169 others(50): Show c.169-4941_169-4940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0019 a0001c0002t0001 a0001c0004t0019	a0001c0002t0001g0003 a0001c0004t0019g0057 a0001c0002t0001g0003 a0001c0004t0019g0057	2	178	0.0112	33	c.-22 others(52): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA TAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	178	0.0056	33	c.50 others(44): Show c.5063_*5064insTATATATATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0153 a0001c0001t0035g0153	1	178	0.0056	33	c.58 others(44): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK4_chr19_39120786_39184404	39130261	A A	AAGGATGG others(26): Show AAGGATGGGGAAACCCAGGCAGAGGGGTCAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(134): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0016 a0001c0019 a0001c0021 a0006c0013 a0007c0014 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0002t0007 a0001c0005t0007 a0001c0006t0011 a0001c0007t0002 a0001c0016t0018 a0001c0019t0002 a0001c0021t0005 a0006c0013t0003 a0007c0014t0002 a0008c0015t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0126 others(134): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0161 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0085 a0001c0001t0003g0103 a0001c0001t0003g0110 a0001c0001t0003g0123 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0245 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0003g0273 a0001c0001t0004g0281 a0001c0001t0004g0336 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0004g0358 a0001c0001t0005g0074 a0001c0001t0005g0095 a0001c0001t0005g0104 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0162 a0001c0001t0005g0233 a0001c0001t0010g0283 a0001c0001t0010g0284 a0001c0001t0014g0096 a0001c0001t0014g0097 a0001c0001t0015g0311 a0001c0001t0016g0285 a0001c0001t0017g0286 a0001c0001t0019g0005 a0001c0002t0007g0021 a0001c0002t0007g0022 a0001c0002t0007g0023 a0001c0002t0007g0024 a0001c0005t0007g0195 a0001c0006t0011g0276 a0001c0006t0011g0277 a0001c0007t0002g0320 a0001c0007t0002g0321 a0001c0016t0018g0241 a0001c0019t0002g0322 a0001c0021t0005g0004 a0006c0013t0003g0121 a0007c0014t0002g0339 a0008c0015t0001g0008	137	368	0.3723	33	c.-96 others(50): Show c.-96+4343_-96+4375dupAGGATGGGGAAACCCAGGCAGAGGGGTC AGGGC	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39130261	A A	AAGGATGG others(26): Show AAGGATGGGGAAACCCAGGCAGAGGGGTTAGGGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02258.hp2 others(2): Show HG01891.hp2 HG02109.hp2 HG02258.hp2 HG02886.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0003 a0001c0009 a0002c0003	a0001c0009t0005 a0002c0003t0005 a0001c0009t0005 a0002c0003t0005	a0001c0009t0005g0163 a0001c0009t0005g0173 a0002c0003t0005g0138 others(2): Show a0001c0009t0005g0163 a0001c0009t0005g0173 a0002c0003t0005g0138 a0002c0003t0005g0240 a0002c0003t0005g0262	5	368	0.0136	33	c.-96 others(50): Show c.-96+4369_-96+4370insTAGGGCAGGATGGGGAAACCCAGGCAGA GGGGT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39143157	T T	TCCCACTA others(26): Show TCCCACTAGAATGTCAACTCCAGGAGAGCAGAGA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	368	0.0027	33	c.-96 others(52): Show c.-96+17240_-96+17272dupCCACTAGAATGTCAACTCCAGGAGAG CAGAGAC	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035291	C C	CATATGTA others(26): Show CATATGTATAATACATATTACATACATATGTATT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG02280.hp2 others(15): Show HG01261.hp2 HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0001c0006 a0002c0004 others(5): Show a0001c0001 a0001c0006 a0002c0004 a0003c0003 a0004c0005 a0005c0008 a0006c0009 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0031 a0001c0006t0024 a0002c0004t0001 a0003c0003t0001 a0004c0005t0005 a0005c0008t0006 a0006c0009t0014 a0008c0010t0012	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0101 others(15): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0001g0167 a0001c0001t0002g0200 a0001c0001t0008g0049 a0001c0001t0031g0165 a0001c0006t0024g0188 a0002c0004t0001g0219 a0003c0003t0001g0160 a0004c0005t0005g0148 a0005c0008t0006g0099 a0005c0008t0006g0159 a0005c0008t0006g0192 a0005c0008t0006g0194 a0006c0009t0014g0151 a0006c0009t0014g0217 a0008c0010t0012g0201	18	222	0.0811	33	c.582 others(52): Show c.582+19272_582+19304dupCATACATATGTATTATATGTATAATA CATATTA	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(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03942.hp1 HG01433.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0136 a0001c0001t0005g0108 a0001c0001t0001g0136 a0001c0001t0005g0108	2	222	0.0090	33	c.583 others(48): Show c.583-962_583-961insAAAAAAATATATATATATATATATATATAT ATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	290	0.0035	33	c.367 others(50): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0326 a0001c0002t0007g0326	1	378	0.0027	33	c.118 others(50): Show c.118-3368_118-3367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0094 a0001c0001t0050g0094	1	416	0.0024	33	c.29- others(48): Show c.29-4419_29-4418insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAOX_chr10_133374262_133396694	133379216	C C	CCTCCCAG others(26): Show CCTCCCAGCGCCTCCCCGCCCCCTCGCTCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	346	0.0029	33	c.-10 others(42): Show c.-101_-100insCTCCCAGCGCCTCCCCGCCCCCTCGCTCCGCCT	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		45		chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp2 HG02273.hp2 others(4): Show HG01346.hp1 HG02135.hp2 HG02273.hp2 NA18940.hp2 NA18966.hp1 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0002g0060 a0001c0001t0002g0113 a0001c0001t0002g0117 others(4): Show a0001c0001t0002g0060 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0003g0052 a0001c0001t0003g0098 a0001c0001t0010g0028 a0001c0001t0010g0044	7	372	0.0188	33	c.381 others(46): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(26): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	284	0.0035	33	c.-27 others(52): Show c.-277+1918_-277+1919insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322751	A A	AGAAGAAG others(26): Show AGAAGAAGAAGAGGGAGAAGAAGAAGAAGATGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	284	0.0035	33	c.-27 others(54): Show c.-276-14579_-276-14578insGGGAGAAGAAGAAGAAGATGAGGA AGAAGAAGA	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(26): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG02602.hp1 others(3): Show HG00733.hp1 HG00738.hp1 HG02602.hp1 NA18961.hp2 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0107	6	284	0.0211	33	c.-27 others(54): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAAGA AGAGGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	205036644	G G	GTATATAT others(26): Show GTATATATACACAGCGGACTGTATGTACAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02622.hp2 others(5): Show HG01109.hp1 HG02055.hp1 HG02622.hp2 HG02647.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp2 NA19030.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0011 a0012	a0002c0003 a0002c0015 a0003c0005 others(5): Show a0002c0003 a0002c0015 a0003c0005 a0003c0009 a0003c0018 a0006c0014 a0011c0024 a0012c0023	a0002c0003t0008 a0002c0015t0017 a0003c0005t0001 others(5): Show a0002c0003t0008 a0002c0015t0017 a0003c0005t0001 a0003c0009t0002 a0003c0018t0002 a0006c0014t0001 a0011c0024t0003 a0012c0023t0001	a0002c0003t0008g0049 a0002c0015t0017g0015 a0003c0005t0001g0025 others(5): Show a0002c0003t0008g0049 a0002c0015t0017g0015 a0003c0005t0001g0025 a0003c0009t0002g0034 a0003c0018t0002g0038 a0006c0014t0001g0011 a0011c0024t0003g0014 a0012c0023t0001g0052	8	54	0.1482	33	c.395 others(52): Show c.395-10792_395-10760dupGCGGACTGTATGTACAAAAAATATAT ATACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205057325	T T	TATGTATA others(26): Show TATGTATATGTGTTATATACATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03130.hp2 HG01109.hp2 HG02109.hp2 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0013 a0002c0003 a0005c0013	a0002c0003t0016 a0005c0013t0001 a0005c0013t0003 a0002c0003t0016 a0005c0013t0001 a0005c0013t0003	a0002c0003t0016g0046 a0005c0013t0001g0001 a0005c0013t0003g0002 a0002c0003t0016g0046 a0005c0013t0001g0001 a0005c0013t0003g0002	3	54	0.0556	33	c.504 others(50): Show c.504+9756_504+9788dupATACATATATACATGTATATGTGTTATA TACAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205248380	T T	TTGGTGGT others(26): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0003 a0007c0028t0003	a0007c0028t0003g0007 a0007c0028t0003g0007	1	54	0.0185	33	c.218 others(52): Show c.2185+2562_2185+2594dupTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGG	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205331782	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0012 a0007c0017t0012	a0007c0017t0012g0006 a0007c0017t0012g0006	1	54	0.0185	33	c.263 others(54): Show c.2630+30104_2630+30105insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD6B_chr20_50726580_50758741	50750954	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0004 a0001c0001t0080g0004	1	364	0.0028	33	c.49 others(42): Show c.498_*499insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PARD6B	ENSG00000124171.9	transcript	ENST00000371610.7	protein_coding	3/3	499	INFO_REALIGN_3_PRIME	chr20	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02886.hp1 HG01257.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0154 a0001c0001t0005g0080 a0001c0001t0004g0154 a0001c0001t0005g0080	2	169	0.0118	33	c.148 others(54): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARN_chr16_14430701_14635260	14574146	C C	CTGAGATG others(26): Show CTGAGATGGTCTCAGATGGAGATGAGAAACTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	169	0.0059	33	c.126 others(52): Show c.1262+6695_1262+6727dupAAAAGTTTCTCATCTCCATCTGAGAC CATCTCA	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	18/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	366	0.0027	33	c.-33 others(44): Show c.-3319_-3318insAAAAAATATATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02004.hp2 HG02148.hp1 others(3): Show HG01257.hp2 HG02004.hp2 HG02148.hp1 HG02293.hp2 HG02559.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0007 a0001c0002t0001g0147 a0001c0002t0001g0150 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0013g0096	6	316	0.0190	33	c.175 others(50): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARVB_chr22_44019302_44177939	44066780	T T	TCTTCTCC others(26): Show TCTTCTCCTCCTCCTCCTCCTTCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG02630.hp1 others(2): Show HG01433.hp1 HG01496.hp1 HG02630.hp1 HG03486.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0009 a0001c0002t0015 a0001c0002t0019 others(2): Show a0001c0001t0009 a0001c0002t0015 a0001c0002t0019 a0001c0005t0009 a0003c0006t0013	a0001c0001t0009g0086 a0001c0002t0015g0327 a0001c0002t0019g0111 others(2): Show a0001c0001t0009g0086 a0001c0002t0015g0327 a0001c0002t0019g0111 a0001c0005t0009g0075 a0003c0006t0013g0122	5	332	0.0151	33	c.113 others(52): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTCCTTCTCCTCC TCCTCCT	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(26): Show TCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01934.hp2 HG02056.hp1 others(1): Show HG00140.hp2 HG01934.hp2 HG02056.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0005g0245 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0005g0245 a0001c0001t0011g0296	4	332	0.0121	33	c.113 others(52): Show c.113-27146_113-27145insTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066807	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0232 a0001c0002t0006g0232	1	332	0.0030	33	c.113 others(52): Show c.113-27106_113-27105insCTCCTCCTCCTCCTCCTTCTCCTCCT CCTCCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44112886	A A	AAGTAAGG others(26): Show AAGTAAGGCCCTGCACCAGCACAGATACATTGTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02148.hp2 HG02698.hp1 HG00558.hp1 HG02148.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0011 a0001c0001t0004 a0001c0002t0011	a0001c0001t0004g0217 a0001c0001t0004g0252 a0001c0002t0011g0067 a0001c0001t0004g0217 a0001c0001t0004g0252 a0001c0002t0011g0067	3	332	0.0090	33	c.274 others(50): Show c.274-6151_274-6150insGTAAGGCCCTGCACCAGCACAGATACAT TGTTA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113910	G G	GCACCAGC others(26): Show GCACCAGCACAGATACATTGTTACTAAGGCCCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02630.hp1 HG02735.hp2 others(3): Show HG01069.hp1 HG02630.hp1 HG02735.hp2 HG02818.hp1 HG03490.hp1 HG03834.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0087 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0087 a0002c0003t0028 a0003c0006t0013 a0003c0006t0054	a0001c0001t0001g0282 a0001c0001t0003g0080 a0001c0001t0087g0330 others(3): Show a0001c0001t0001g0282 a0001c0001t0003g0080 a0001c0001t0087g0330 a0002c0003t0028g0331 a0003c0006t0013g0122 a0003c0006t0054g0113	6	332	0.0181	33	c.274 others(50): Show c.274-5123_274-5122insGCACAGATACATTGTTACTAAGGCCCTA CACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44114154	T T	TGGCCCTG others(26): Show TGGCCCTGCACCAACACAGATACATTGTTACTAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	33	c.274 others(50): Show c.274-4849_274-4817dupGCCCTGCACCAACACAGATACATTGTTA CTAAG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44114683	A A	AAGTATGG others(26): Show AAGTATGGCCCTGCACCAACACAGATACATTGTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	332	0.0030	33	c.274 others(50): Show c.274-4354_274-4353insGTATGGCCCTGCACCAACACAGATACAT TGTTA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115454	G G	GTAAGGCC others(26): Show GTAAGGCCCTGCACCAACACAGATACATTGTTAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	33	c.274 others(50): Show c.274-3580_274-3548dupGGCCCTGCACCAACACAGATACATTGTT ACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(26): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	221	0.0045	33	c.-10 others(44): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PASD1_chrX_151558675_151681739	151645904	T T	TTTGTTTT others(26): Show TTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp2 HG01255.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0022 a0001c0002t0002g0016 a0001c0001t0001g0022 a0001c0002t0002g0016	2	221	0.0091	33	c.630 others(50): Show c.630-2709_630-2708insGTTTTGTTTTGTTTTGTTTTGTTTTGTT TTGTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02738.hp1 HG04204.hp2 others(5): Show HG02129.hp2 HG02738.hp1 HG04204.hp2 NA18984.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0013 a0005c0021 a0004c0004 a0005c0013 a0005c0021	a0004c0004t0001 a0005c0013t0002 a0005c0021t0002 a0004c0004t0001 a0005c0013t0002 a0005c0021t0002	a0004c0004t0001g0205 a0004c0004t0001g0211 a0004c0004t0001g0212 others(5): Show a0004c0004t0001g0205 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0215 a0004c0004t0001g0221 a0005c0013t0002g0280 a0005c0021t0002g0254 a0005c0021t0002g0284	8	376	0.0213	33	c.307 others(52): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241120496	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0002 a0004c0018t0002	a0004c0018t0002g0050 a0004c0018t0002g0050	1	376	0.0027	33	c.307 others(52): Show c.3072+2235_3072+2236insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 4928 hits)