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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Select column to sort.

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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
OTULIN_chr5_14659718_14704850	14703324	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01106.hp1 others(26): Show HG00099.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03540.hp1 HG03831.hp1 NA18612.hp1 NA19060.hp2 NA19077.hp2 NA20300.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0003 a0007c0009 a0001c0001 a0003c0003 a0007c0009	a0001c0001t0004 a0001c0001t0026 a0001c0001t0042 others(6): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0042 a0001c0001t0046 a0001c0001t0059 a0003c0003t0006 a0003c0003t0023 a0003c0003t0043 a0007c0009t0006	a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0109 others(18): Show a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0026g0021 a0001c0001t0042g0021 a0001c0001t0046g0115 a0001c0001t0059g0108 a0003c0003t0006g0009 a0003c0003t0006g0044 a0003c0003t0006g0139 a0003c0003t0023g0137 a0003c0003t0023g0138 a0003c0003t0043g0009 a0007c0009t0006g0009	29	354	0.0819	-25	c.10 others(38): Show c.10277_*10301delAAAAAAAAAAAAAAAAAAAAAAAAA	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding		3475		chr5	TogoVar
OXNAD1_chr3_16260212_16311087	16294271	TGGCTCAC others(18): Show TGGCTCACTGCAACATCCACCTCCCA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	384	0.0026	-25	c.291 others(40): Show c.291-582_291-558delCTCACTGCAACATCCACCTCCCAGG	OXNAD1	ENSG00000154814.14	transcript	ENST00000285083.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXR1_chr8_106265190_106757694	106405177	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02922.hp1 HG03471.hp2 others(2): Show HG01074.hp1 HG02922.hp1 HG03471.hp2 NA18983.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0005c0009	a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 a0001c0010t0001 a0005c0009t0001	a0001c0001t0002g0084 a0001c0001t0015g0162 a0001c0002t0002g0022 others(2): Show a0001c0001t0002g0084 a0001c0001t0015g0162 a0001c0002t0002g0022 a0001c0010t0001g0143 a0005c0009t0001g0058	5	172	0.0291	-25	c.23+ others(42): Show c.23+45542_23+45566delATATATATATATATATATATATATA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16			chr8	TogoVar
OXSR1_chr3_38160537_38260484	38162042	ATTTCATA others(18): Show ATTTCATATATTATGTAATTTCATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG00741.hp2 HG02896.hp2 HG02897.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 others(1): Show a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0247	4	248	0.0161	-25	c.-38 others(36): Show c.-3834_-3810delTTTCATATATTATGTAATTTCATAT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3494		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38184903	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01074.hp1 others(30): Show HG00323.hp1 HG00558.hp1 HG01074.hp1 HG01099.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG02486.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 NA18522.hp1 NA18939.hp1 NA18950.hp1 NA19043.hp1 NA19074.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0018	a0001c0001t0001g0063 a0001c0001t0001g0086 a0002c0002t0001g0005 others(30): Show a0001c0001t0001g0063 a0001c0001t0001g0086 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0178 a0002c0002t0001g0213 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0006g0011 a0002c0002t0006g0012 a0002c0002t0018g0039	33	248	0.1331	-25	c.183 others(42): Show c.183+1812_183+1836delTTTTTTTTTTTTTTTTTTTTTTTTT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
OXTR_chr3_8745381_8774613	8773138	TATCTATA others(18): Show TATCTATATATATCTATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG03654.hp1 HG00733.hp2 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0019 a0002c0003t0002 a0002c0003t0019	a0002c0003t0002g0029 a0002c0003t0019g0215 a0002c0003t0002g0029 a0002c0003t0019g0215	2	474	0.0042	-25	c.-41 others(36): Show c.-4171_-4147delTATATATATATAGATATATATAGAT	OXTR	ENSG00000180914.11	transcript	ENST00000316793.8	protein_coding		3526		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132615696	TCCCTGGG others(18): Show TCCCTGGGACACACGGGGATACTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02970.hp2 HG01884.hp1 HG02886.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	386	0.0078	-25	c.-31 others(36): Show c.-3120_-3096delCCCTGGGACACACGGGGATACTCTC	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		3079		chr12	TogoVar
P2RX3_chr11_57333352_57377396	57374426	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(273): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0003 a0002c0005 a0003c0004 a0005c0009 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0006t0001 a0001c0008t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0026 a0002c0003t0001 a0002c0003t0002 a0002c0003t0014 a0002c0003t0016 a0002c0005t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0008 a0003c0004t0022 a0005c0009t0001 a0006c0011t0020	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 others(206): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0001g0166 a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0248 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0013g0042 a0001c0001t0018g0234 a0001c0001t0019g0225 a0001c0001t0024g0008 a0001c0001t0025g0220 a0001c0006t0001g0099 a0001c0008t0003g0094 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0055 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0101 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0209 a0002c0002t0001g0216 a0002c0002t0002g0006 a0002c0002t0002g0028 a0002c0002t0002g0122 a0002c0002t0006g0002 a0002c0002t0006g0005 a0002c0002t0006g0128 a0002c0002t0006g0146 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0006g0174 a0002c0002t0006g0177 a0002c0002t0006g0181 a0002c0002t0008g0149 a0002c0002t0010g0159 a0002c0002t0010g0161 a0002c0002t0010g0179 a0002c0002t0015g0136 a0002c0002t0017g0183 a0002c0002t0026g0007 a0002c0003t0001g0001 a0002c0003t0001g0085 a0002c0003t0001g0208 a0002c0003t0001g0215 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0246 a0002c0003t0002g0003 a0002c0003t0014g0210 a0002c0003t0016g0131 a0002c0005t0001g0002 a0002c0005t0001g0023 a0002c0005t0001g0176 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0002g0018 a0003c0004t0002g0049 a0003c0004t0008g0019 a0003c0004t0008g0050 a0003c0004t0008g0053 a0003c0004t0008g0054 a0003c0004t0022g0018 a0005c0009t0001g0139 a0006c0011t0020g0237	276	354	0.7797	-25	c.44 others(36): Show c.4430_*4454delAAAAAAAAAAAAAAAAAAAAAAAAA	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		2031		chr11	TogoVar
P2RY10_chrX_78940391_78968727	78965740	CCTTTCTT others(18): Show CCTTTCTTTCCTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	322	0.0031	-25	c.42 others(36): Show c.4201_*4225delCTTTCTTTCCTTTCTTTCTTTCTTT	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2014		chrX	TogoVar
P2RY12_chr3_151331843_151389753	151368586	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 HG03098.hp1 others(9): Show HG00621.hp1 HG02135.hp2 HG03098.hp1 NA18948.hp2 NA18967.hp1 NA18986.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp1 NA19075.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0005 a0001c0001t0003 a0002c0004t0005	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0057 others(7): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0122 a0002c0004t0005g0055	12	396	0.0303	-25	c.-18 others(46): Show c.-180+16081_-180+16105delATAAAATAAAATAAAATAAAATAA A	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368624	TATTTTAT others(18): Show TATTTTATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0184 a0001c0001t0016g0184	1	396	0.0025	-25	c.-18 others(46): Show c.-180+16043_-180+16067delGAAATGAAATGAAATGAAATAAAA T	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368629	TATTTCAT others(18): Show TATTTCATTTCATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18957.hp2 NA19004.hp1 others(1): Show NA18942.hp1 NA18957.hp2 NA19004.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0223 a0001c0001t0003g0242 a0001c0001t0003g0027 a0001c0001t0003g0223 a0001c0001t0003g0242	4	396	0.0101	-25	c.-18 others(46): Show c.-180+16038_-180+16062delGAAATGAAATGAAATGAAATGAAA T	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368664	CATTTCAT others(18): Show CATTTCATTTCATGTCATTTCATTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0082 a0002c0004t0005g0082	1	396	0.0025	-25	c.-18 others(46): Show c.-180+16003_-180+16027delAAAATGAAATGACATGAAATGAAA T	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY12_chr3_151331843_151389753	151368677	GTCATTTC others(18): Show GTCATTTCATTTTATTTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp2 NA18995.hp1 HG01243.hp2 HG03130.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0001g0174 a0001c0001t0004g0052 a0001c0001t0001g0053 a0001c0001t0001g0174 a0001c0001t0004g0052	3	396	0.0076	-25	c.-18 others(46): Show c.-180+15990_-180+16014delAATGAAATGAAATAAAATGAAATG A	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY8_chrX_1457581_1542185	1493415	AAGGAGGA others(18): Show AAGGAGGAAGGAGGAGGGAGGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03579.hp2 HG01070.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0016 a0001c0001t0029g0054 a0001c0001t0001g0016 a0001c0001t0029g0054	2	114	0.0175	-25	c.-24 others(44): Show c.-24-26858_-24-26834delCCTTCCCTCCCTCCTCCTTCCTCCT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189997679	ATTAAATC others(18): Show ATTAAATCTTGCCTGAAATGAGCTCT	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	304	0.0033	-25	c.481 others(42): Show c.481-2262_481-2238delAGAGCTCATTTCAGGCAAGATTTAA	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	1/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73093868	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	234	0.0043	-25	c.-33 others(42): Show c.-33+2873_-33+2897delATATATATATATATATATATTTTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA1_chr10_73002217_73101866	73093870	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02071.hp1 NA18968.hp1 others(4): Show HG00408.hp1 HG02071.hp1 NA18968.hp1 NA18981.hp1 NA18998.hp2 NA19005.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0095 a0001c0001t0003g0127 a0001c0001t0003g0128 others(4): Show a0001c0001t0003g0095 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0012g0187	7	234	0.0299	-25	c.-33 others(42): Show c.-33+2871_-33+2895delATATATATATATATATATATATTTT	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	1/14			chr10	TogoVar
P4HA2_chr5_132185147_132232853	132208411	GGAGGGGA others(18): Show GGAGGGGAGGGGGGGAGGGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG03209.hp2 others(1): Show HG02145.hp2 HG02572.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0037 a0001c0001t0002 a0001c0001t0029 a0001c0001t0037	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0029g0045 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0029g0045 a0001c0001t0037g0088	4	426	0.0094	-25	c.904 others(40): Show c.904-552_904-528delTCTCCTCCCCTCCCCCCCTCCCCTC	P4HA2	ENSG00000072682.20	transcript	ENST00000360568.8	protein_coding	7/14			chr5	TogoVar
PABPC1L2B_chrX_72997939_73011106	73002769	GCCCCGCA others(18): Show GCCCCGCAGCCCCGCAGCCCCGCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0000 a0002c0002t0011g0000	1	294	0.0034	-25	c.-87 others(34): Show c.-873_-849delCCCCGCAGCCCCGCAGCCCCGCAGC	PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding		169		chrX	TogoVar
PACC1_chr1_212358928_212419886	212381672	GCACAGAC others(18): Show GCACAGACACACACACACACACTGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01169.hp2 others(27): Show HG00099.hp1 HG00741.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG02004.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp2 NA18954.hp2 NA18962.hp2 NA18982.hp2 NA18998.hp2 NA19009.hp1 NA19059.hp1 NA19070.hp1 NA19086.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0003c0008t0001	a0001c0001t0001g0088 a0001c0001t0001g0278 a0001c0001t0001g0283 others(25): Show a0001c0001t0001g0088 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0006g0021 a0001c0001t0006g0317 a0001c0001t0006g0321 a0001c0001t0006g0322 a0001c0001t0006g0329 a0001c0001t0006g0336 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0008g0013 a0001c0001t0008g0132 a0001c0001t0008g0133 a0001c0001t0008g0167 a0001c0001t0018g0316 a0001c0001t0019g0320 a0003c0008t0001g0280	30	374	0.0802	-25	c.496 others(42): Show c.496-1660_496-1636delTGCAGTGTGTGTGTGTGTGTCTGTG	PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	4/7			chr1	TogoVar
PACS1_chr11_66065272_66249744	66248194	TGGAAAAG others(18): Show TGGAAAAGTTGCAAAAATAGTAGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	322	0.0031	-25	c.49 others(36): Show c.4915_*4939delGGAAAAGTTGCAAAAATAGTAGAAA	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding		3451		chr11	TogoVar
PADI1_chr1_17200128_17251007	17222195	ACGGCCTG others(18): Show ACGGCCTGGCAGCCCCAAGCCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	406	0.0025	-25	c.93- others(36): Show c.93-93_93-69delGGCCTGGCAGCCCCAAGCCCCCACC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI6_chr1_17367196_17406699	17376522	TTATTTTT others(18): Show TTATTTTTAGTGGGCTATTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	412	0.0024	-25	c.367 others(42): Show c.367+1040_367+1064delTTTTTTTTGTATTTTTAGTGGGCTA	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAF1_chr19_39380629_39396106	39393072	CTTTCTTT others(18): Show CTTTCTTTTCTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	368	0.0027	-25	c.-22 others(36): Show c.-2233_-2209delAAAAAAAAAAAAAAAAGAAAAGAAA	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		1967		chr19	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172382	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18952.hp2 NA19005.hp2 HG00544.hp2 NA18952.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	432	0.0069	-25	c.46 others(36): Show c.4684_*4708delTATATATATATATATATATATATTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1338		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172384	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	432	0.0023	-25	c.46 others(36): Show c.4686_*4710delTATATATATATATATATATATTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1340		chr11	TogoVar
PAG1_chr8_80962810_81117068	80994108	TCCACTGC others(18): Show TCCACTGCCATCTCTCATCTCCCTAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp2 HG03139.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0074 a0001c0001t0053 a0001c0001t0074	a0001c0001t0053g0019 a0001c0001t0074g0238 a0001c0001t0053g0019 a0001c0001t0074g0238	2	256	0.0078	-25	c.-80 others(40): Show c.-80-826_-80-802delGTAGGGAGATGAGAGATGGCAGTGG	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	3/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689568	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	322	0.0031	-25	c.293 others(38): Show c.293-50_293-26delATATATATATATATATATTTTTTTT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102871932	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18999.hp1 NA18999.hp2 others(2): Show NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 others(2): Show a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0085 a0001c0002t0001g0175	5	312	0.0160	-25	c.442 others(42): Show c.442-5294_442-5270delATATATATTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871934	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02738.hp1 others(5): Show HG02451.hp1 HG02486.hp2 HG02738.hp1 HG03041.hp1 HG03130.hp1 HG03834.hp1 NA18522.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0002t0001 a0001c0004t0008 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0008 a0001c0008t0001	a0001c0001t0002g0200 a0001c0002t0001g0158 a0001c0002t0001g0209 others(5): Show a0001c0001t0002g0200 a0001c0002t0001g0158 a0001c0002t0001g0209 a0001c0004t0008g0300 a0001c0004t0008g0301 a0001c0004t0008g0302 a0001c0004t0008g0303 a0001c0008t0001g0134	8	312	0.0256	-25	c.442 others(42): Show c.442-5296_442-5272delATATATATATTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871938	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0220 a0001c0001t0001g0072 a0001c0001t0001g0220	2	312	0.0064	-25	c.442 others(42): Show c.442-5300_442-5276delATATATATATATATTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102871940	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0299 a0001c0001t0009g0299	1	312	0.0032	-25	c.442 others(42): Show c.442-5302_442-5278delATATATATATATATATTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK3_chrX_111091191_111232361	111179892	GGGATTAC others(18): Show GGGATTACAGGCGTGTGTCACCATGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0190 a0001c0001t0031g0190	1	195	0.0051	-25	c.830 others(42): Show c.830+6812_830+6836delGGATTACAGGCGTGTGTCACCATGC	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	11/17			chrX	TogoVar
PAK6_chr15_40234063_40282487	40254660	TCTGGGCA others(18): Show TCTGGGCACTGGGCATTGTGGATGAG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	426	0.0024	-25	c.-6+ others(40): Show c.-6+1373_-6+1397delTGGGCACTGGGCATTGTGGATGAGC	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALD1_chr10_70473767_70573450	70505603	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00621.hp1 others(59): Show HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02083.hp1 HG02145.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03654.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18950.hp1 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19065.hp2 NA19240.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0008 a0017 a0023	a0001c0001 a0001c0004 a0001c0007 others(7): Show a0001c0001 a0001c0004 a0001c0007 a0001c0026 a0002c0002 a0004c0032 a0006c0008 a0008c0012 a0017c0028 a0023c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0040 a0001c0001t0051 a0001c0004t0010 a0001c0004t0014 a0001c0007t0001 a0001c0026t0011 a0002c0002t0002 a0004c0032t0015 a0006c0008t0006 a0006c0008t0027 a0008c0012t0008 a0017c0028t0011 a0023c0031t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 others(59): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0147 a0001c0001t0002g0170 a0001c0001t0003g0252 a0001c0001t0004g0194 a0001c0001t0006g0284 a0001c0001t0011g0040 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0269 a0001c0001t0012g0258 a0001c0001t0017g0280 a0001c0001t0019g0131 a0001c0001t0022g0143 a0001c0001t0040g0001 a0001c0001t0051g0025 a0001c0004t0010g0246 a0001c0004t0010g0293 a0001c0004t0014g0179 a0001c0007t0001g0051 a0001c0026t0011g0259 a0002c0002t0002g0088 a0004c0032t0015g0275 a0006c0008t0006g0072 a0006c0008t0006g0128 a0006c0008t0006g0162 a0006c0008t0006g0199 a0006c0008t0027g0235 a0008c0012t0008g0244 a0017c0028t0011g0263 a0023c0031t0001g0159	62	308	0.2013	-25	c.-29 others(44): Show c.-29-20299_-29-20275delCAAAACAAAACAAAACAAAACAAAA	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168709612	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02055.hp1 others(1): Show HG00639.hp1 HG01109.hp1 HG02055.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0003c0008 a0001c0001 a0003c0005 a0003c0008	a0001c0001t0008 a0003c0005t0002 a0003c0008t0004 a0001c0001t0008 a0003c0005t0002 a0003c0008t0004	a0001c0001t0008g0053 a0003c0005t0002g0129 a0003c0008t0004g0047 others(1): Show a0001c0001t0008g0053 a0003c0005t0002g0129 a0003c0008t0004g0047 a0003c0008t0004g0052	4	156	0.0256	-25	c.162 others(42): Show c.1621+467_1621+491delAGGAAGGAAGGAAGGAAGGAAGGAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759201	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	156	0.0064	-25	c.196 others(46): Show c.1964+47280_1964+47304delATATATATATATATATATATATAT A	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759203	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04204.hp2 NA19010.hp2 others(2): Show HG01074.hp1 HG04204.hp2 NA19010.hp2 NA19074.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0004t0002 a0002c0003t0001	a0001c0001t0002g0136 a0001c0001t0005g0134 a0001c0001t0008g0064 others(2): Show a0001c0001t0002g0136 a0001c0001t0005g0134 a0001c0001t0008g0064 a0001c0004t0002g0131 a0002c0003t0001g0028	5	156	0.0321	-25	c.196 others(46): Show c.1964+47281_1964+47305delTATATATATATATATATATATATA T	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21			chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109873442	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG00738.hp2 others(32): Show HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp2 HG01516.hp2 HG01978.hp1 HG02083.hp2 HG02145.hp1 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03669.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18982.hp1 NA18994.hp1 NA19002.hp2 NA19030.hp1 NA19066.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0006 a0001c0007 others(5): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0006t0028 a0001c0007t0001 a0001c0007t0032 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0002 a0002c0004t0033 a0003c0003t0001 a0003c0003t0005 a0004c0005t0005 a0009c0020t0003	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0141 others(32): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0141 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0002g0021 a0001c0001t0002g0081 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0008g0116 a0001c0001t0008g0215 a0001c0001t0011g0170 a0001c0001t0013g0104 a0001c0006t0028g0196 a0001c0007t0001g0048 a0001c0007t0001g0149 a0001c0007t0032g0150 a0002c0002t0003g0003 a0002c0002t0003g0130 a0002c0002t0004g0122 a0002c0002t0004g0132 a0002c0002t0005g0110 a0002c0002t0005g0111 a0002c0004t0001g0183 a0002c0004t0002g0065 a0002c0004t0002g0083 a0002c0004t0033g0145 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0084 a0003c0003t0001g0098 a0003c0003t0001g0164 a0003c0003t0005g0070 a0004c0005t0005g0148 a0009c0020t0003g0140	35	222	0.1577	-25	c.126 others(42): Show c.126+5902_126+5926delAAAATAAAATAAAATAAAATAAAAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652674	GGAAAGGA others(18): Show GGAAAGGAAAGGAAAGGAAAGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	380	0.0026	-25	c.45+ others(40): Show c.45+6317_45+6341delGGAAAGGAAAGGAAAGGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67302803	ATCAGTAA others(18): Show ATCAGTAATATAACTCATTAATTCAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show HG00735.hp2 HG00741.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0026 a0001c0001t0010 a0001c0001t0013 a0001c0001t0026	a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 others(3): Show a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0013g0280 a0001c0001t0013g0281 a0001c0001t0026g0283	6	290	0.0207	-25	c.963 others(40): Show c.963+239_963+263delATATAACTCATTAATTCACTCAGTA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67335954	GTTCTTTA others(18): Show GTTCTTTACAGAGGGATAGTGCCCCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show HG00735.hp2 HG00741.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0026 a0001c0001t0010 a0001c0001t0013 a0001c0001t0026	a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 others(3): Show a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0013g0280 a0001c0001t0013g0281 a0001c0001t0026g0283	6	290	0.0207	-25	c.30 others(36): Show c.3000_*3024delTCTTTACAGAGGGATAGTGCCCCCT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	15/15	3000	INFO_REALIGN_3_PRIME	chr14	TogoVar
PAM_chr5_102750305_103034716	102758068	ATTTTGTT others(18): Show ATTTTGTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	188	0.0053	-25	c.-37 others(44): Show c.-374+2725_-374+2749delGTTTTTTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK1_chr10_89577988_89650242	89595828	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	366	0.0027	-25	c.900 others(42): Show c.900-1864_900-1840delATATATATATATATATATATTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300642	TTTCTTTC others(18): Show TTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01109.hp1 others(1): Show HG00597.hp2 HG00673.hp2 HG01109.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0003t0003 a0001c0001t0001 a0001c0001t0013 a0001c0003t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0013g0113 others(1): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0013g0113 a0001c0003t0003g0114	4	284	0.0141	-25	c.-27 others(44): Show c.-277+1595_-277+1619delTTTCTTTCTTTCTTTCATTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69365046	AATTTTAT others(18): Show AATTTTATTTTATTTTATTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02602.hp2 HG02886.hp1 others(5): Show HG02486.hp2 HG02602.hp2 HG02886.hp1 HG04204.hp1 HG04204.hp2 NA18969.hp1 NA18973.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0080 a0001c0001t0001g0157 a0001c0001t0001g0252 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0094	8	284	0.0282	-25	c.51+ others(40): Show c.51+4960_51+4984delTATTTTATTTTATTTTATTTTATTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3_chr10_34104561_34820296	34177015	GTGTGTTT others(18): Show GTGTGTTTGTGTGTCGGTGTGGGGTC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG02559.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0034 a0001c0003t0004g0035	2	100	0.0200	-25	c.342 others(46): Show c.3420-45457_3420-45433delGACCCCACACCGACACACAAACAC A	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34371486	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03688.hp1 HG00741.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0010 a0001c0012t0002 a0001c0003t0010 a0001c0012t0002	a0001c0003t0010g0042 a0001c0012t0002g0011 a0001c0003t0010g0042 a0001c0012t0002g0011	2	100	0.0200	-25	c.170 others(43): Show c.1707+987_1707+1011delTTTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	12/24			chr10	TogoVar
PARL_chr3_183824271_183889880	183882221	AAATATAT others(18): Show AAATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	358	0.0028	-25	c.125 others(42): Show c.125+2476_125+2500delAAATATATATATATATATATATATT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar

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Search Results (Total: 4527 hits)