Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OR7A10_chr19_14835466_14853922	14849363	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA18906.hp2 NA19087.hp1 others(1): Show HG02896.hp1 NA18906.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0006 a0001c0001 a0002c0004 a0004c0006	a0001c0001t0001 a0002c0004t0004 a0004c0006t0004 a0001c0001t0001 a0002c0004t0004 a0004c0006t0004	a0001c0001t0001g0001 a0002c0004t0004g0037 a0004c0006t0004g0243 others(1): Show a0001c0001t0001g0001 a0002c0004t0004g0037 a0004c0006t0004g0243 a0004c0006t0004g0245	4	488	0.0082	-39	c.-91 others(48): Show c.-915_-877delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAA		OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding					442		chr19	TogoVar
OR9Q1_chr11_58018881_58186616	58037675	ATATATAT others(32): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp1 NA19079.hp2 HG01943.hp1 HG02071.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0184 a0001c0002t0001g0219 a0001c0002t0001g0241 a0001c0001t0001g0184 a0001c0002t0001g0219 a0001c0002t0001g0241	3	324	0.0093	-39	c.-93 others(58): Show c.-93+13573_-93+13611delATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTT		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58037677	ATATATAT others(32): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(58): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02074.hp2 HG02257.hp2 HG02273.hp2 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18990.hp1 NA18992.hp1 NA18999.hp2 NA19001.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19070.hp2 NA19077.hp1 NA19082.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0002c0003t0001 a0005c0006t0001	a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0192 others(58): Show a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0230 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0206 a0001c0001t0002g0229 a0001c0001t0002g0247 a0001c0001t0005g0207 a0001c0001t0010g0070 a0001c0001t0020g0215 a0001c0002t0001g0002 a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0003g0164 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0187 a0001c0002t0003g0212 a0001c0002t0003g0226 a0001c0002t0003g0235 a0001c0002t0005g0002 a0002c0003t0001g0199 a0005c0006t0001g0236	61	324	0.1883	-39	c.-93 others(58): Show c.-93+13575_-93+13613delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTT		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58037679	ATATATAT others(32): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp1 HG01433.hp2 others(6): Show HG00621.hp2 HG01361.hp1 HG01433.hp2 HG02165.hp1 HG02735.hp2 NA18945.hp2 NA18959.hp2 NA18986.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0180 others(6): Show a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0224 a0001c0002t0003g0166	9	324	0.0278	-39	c.-93 others(58): Show c.-93+13577_-93+13615delATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
ORAI2_chr7_102428575_102461825	102437736	ATGCATTA others(32): Show ATGCATTATCTTATTCAAAAGCCCTAGAGGTGAGGCCGGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0097 a0001c0002t0046g0097	1	404	0.0025	-39	c.-13 others(56): Show c.-13-1203_-13-1165delTTATCTTATTCAAAAGCCCTAGAGGTGA GGCCGGGTGCA		ORAI2	ENSG00000160991.17	transcript	ENST00000495936.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
OSBPL5_chr11_3082107_3170310	3103686	AGCCCCCT others(32): Show AGCCCCCTTCCAGCCTGCGTACCCCCTTCCAGGCTCTGCT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	326	0.0031	-39	c.124 others(56): Show c.1245-405_1245-367delAGCAGAGCCTGGAAGGGGGTACGCAGGC TGGAAGGGGGC		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103726	GCCCCTTC others(32): Show GCCCCTTCCTGCCTCTGCAACCCTCTTCCAGCTCTGCAGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0005 a0001c0018t0019 a0001c0005t0005 a0001c0018t0019	a0001c0005t0005g0027 a0001c0018t0019g0064 a0001c0005t0005g0027 a0001c0018t0019g0064	2	326	0.0061	-39	c.124 others(56): Show c.1244+428_1245-407delGCTGCAGAGCTGGAAGAGGGTTGCAGAG GCAGGAAGGGG		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3103735	TGCCTCTG others(32): Show TGCCTCTGCAACCCTCTTCCAGCTCTGCAGCCCCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01346.hp2 HG02055.hp2 others(11): Show HG01261.hp1 HG01346.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG06807.hp1 NA18906.hp1 NA18964.hp2 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0011 a0002c0003 a0004c0011	a0002c0003t0003 a0002c0003t0016 a0004c0011t0003 a0002c0003t0003 a0002c0003t0016 a0004c0011t0003	a0002c0003t0003g0017 a0002c0003t0003g0021 a0002c0003t0003g0024 others(11): Show a0002c0003t0003g0017 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0072 a0002c0003t0003g0075 a0002c0003t0003g0137 a0002c0003t0003g0146 a0002c0003t0003g0167 a0002c0003t0003g0266 a0002c0003t0016g0125 a0004c0011t0003g0134 a0004c0011t0003g0135	14	326	0.0429	-39	c.124 others(56): Show c.1244+419_1245-416delTGGAAGGGGGCTGCAGAGCTGGAAGAGG GTTGCAGAGGC		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
OSTF1_chr9_75083514_75152265	75128375	TATATATA others(32): Show TATATATATATATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0261 a0001c0002t0008g0261	1	366	0.0027	-39	c.132 others(54): Show c.132+771_132+809delATATATATATATATATATTTTGTCCATATA TATATATAT		OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOP3_chr17_74930898_74954992	74948026	CCAAGCAA others(32): Show CCAAGCAATCAATGCACTGAAAACATACCTGAGAAATGAA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0287 a0015c0027t0001g0287	1	468	0.0021	-39	c.156 others(56): Show c.1566+552_1566+590delCAAGCAATCAATGCACTGAAAACATACC TGAGAAATGAA		OTOP3	ENSG00000182938.7	transcript	ENST00000328801.6	protein_coding	6/6						chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31610619	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0085 a0001c0001t0068g0085	1	244	0.0041	-39	c.152 others(58): Show c.152-40461_152-40423delCAGAGTGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	3/12						chr15	TogoVar
OXNAD1_chr3_16260212_16311087	16303584	AATAAAGA others(32): Show AATAAAGAGGTGAGATCTACTCAGGAGAGCTCCTGTCCTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0117 a0002c0002t0019g0117	1	384	0.0026	-39	c.23 others(46): Show c.23_*61delATAAAGAGGTGAGATCTACTCAGGAGAGCTCCTGTCCT T		OXNAD1	ENSG00000154814.14	transcript	ENST00000285083.10	protein_coding	9/9				23		chr3	TogoVar
OXR1_chr8_106265190_106757694	106579885	GAGCAAAT others(32): Show GAGCAAATGCTTTTATCATCCTAGGCTCACAGCAGAAGCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	172	0.0058	-39	c.220 others(58): Show c.220+60747_220+60785delAGCAAATGCTTTTATCATCCTAGGCT CACAGCAGAAGCA		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16						chr8	TogoVar
P4HA3_chr11_74261657_74316640	74312931	ATCCAGAG others(32): Show ATCCAGAGTATTTTACATATATTAACTCATTTAATCGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG02486.hp1 others(4): Show HG00642.hp2 HG01261.hp2 HG02486.hp1 HG02735.hp2 HG03491.hp2 HG03492.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245	7	398	0.0176	-39	c.-13 others(50): Show c.-1359_-1321delCAGCGATTAAATGAGTTAATATATGTAAAATACT CTGGA		P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding					1292		chr11	TogoVar
PACSIN2_chr22_42864773_43020149	42981777	GTGGGTCA others(32): Show GTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	294	0.0034	-39	c.-78 others(58): Show c.-78+33205_-78+33243delTCCCGGACTGGGCGGCTGGCCGGGCG GGGGGCTGACCCA		PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10						chr22	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172380	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0132 a0001c0001t0011g0132	1	432	0.0023	-39	c.46 others(50): Show c.4682_*4720delTATATATATATATATATATATATATTTTTTTTTT TTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1336		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172382	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	432	0.0023	-39	c.46 others(50): Show c.4684_*4722delTATATATATATATATATATATATTTTTTTTTTTT TTTTT		PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding					1338		chr11	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109776449	CGTCCAAA others(32): Show CGTCCAAAGAAGGAAGCTTGGGCAATGGGTACAACCAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	222	0.0045	-39	c.-40 others(50): Show c.-4039_-4001delGTCCAAAGAAGGAAGCTTGGGCAATGGGTACAAC CAAAG		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding					3748		chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110167844	AAGAGACT others(32): Show AAGAGACTAAGACCATCTATAGTGTGCTGTCTAATATGGT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0047 a0002c0002t0019g0047	1	222	0.0045	-39	c.321 others(56): Show c.3214-553_3214-515delGAGACTAAGACCATCTATAGTGTGCTGT CTAATATGGTA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683111	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG03486.hp2 others(2): Show HG01884.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03927.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0009	a0001c0002 a0005c0009 a0007c0011 others(1): Show a0001c0002 a0005c0009 a0007c0011 a0009c0010	a0001c0002t0002 a0005c0009t0001 a0007c0011t0001 others(1): Show a0001c0002t0002 a0005c0009t0001 a0007c0011t0001 a0009c0010t0002	a0001c0002t0002g0280 a0001c0002t0002g0369 a0005c0009t0001g0011 others(2): Show a0001c0002t0002g0280 a0001c0002t0002g0369 a0005c0009t0001g0011 a0007c0011t0001g0013 a0009c0010t0002g0364	5	380	0.0132	-39	c.252 others(56): Show c.252-3562_252-3524delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAN3_chr13_28133545_28300335	28257721	ATATATAT others(32): Show ATATATATTATATATAAATTATATATAATATATAATTAAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0225 a0001c0001t0032g0225	1	252	0.0040	-39	c.124 others(58): Show c.1248+1222_1248+1260delTATATATTATATATAAATTATATATA ATATATAATTAAT		PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK4_chr1_2503537_2531596	2531124	CGCAGCTC others(32): Show CGCAGCTCGGGAGGCCTCGGCTCTTGGCATGCTTGCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	399	0.0025	-39	c.-45 others(50): Show c.-4576_-4538delCACAGCAAGCATGCCAAGAGCCGAGGCCTCCCGA GCTGC		PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding					4529		chr1	TogoVar
PAPPA_chr9_116148791_116407321	116289197	CATATATA others(32): Show CATATATATATAGCATATATGTAGCATATATATATAGCAT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0044 a0002c0004t0044	a0002c0004t0044g0085 a0002c0004t0044g0085	1	234	0.0043	-39	c.295 others(60): Show c.2954-13550_2954-13512delTAGCATATATGTAGCATATATATA TAGCATATATATATA		PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300633	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	284	0.0035	-39	c.-27 others(58): Show c.-277+1579_-277+1617delTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCATTCTTT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322691	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	284	0.0035	-39	c.-27 others(60): Show c.-276-14608_-276-14570delAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARL_chr3_183824271_183889880	183882219	AAAAATAT others(32): Show AAAAATATATATATATATATATATATTTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	358	0.0028	-39	c.125 others(56): Show c.125+2464_125+2502delATATATATATATAAATATATATATATAT ATATATATTTT		PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9						chr3	TogoVar
PARP12_chr7_140018749_140067951	140035890	AGAGGAGG others(32): Show AGAGGAGGAGGACGAGGAGGAGGACAAGGAGGAGGACAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0009 a0008c0015t0009	a0008c0015t0009g0192 a0008c0015t0009g0192	1	360	0.0028	-39	c.132 others(58): Show c.1325-1598_1325-1560delCTTGTCCTCCTCCTTGTCCTCCTCCT CGTCCTCCTCCTC		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP12_chr7_140018749_140067951	140035990	GAGGAGGA others(32): Show GAGGAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0187 a0002c0007t0003g0187	1	360	0.0028	-39	c.132 others(58): Show c.1324+1686_1325-1660delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTCCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARP12_chr7_140018749_140067951	140035999	GAGAAGGA others(32): Show GAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0278 a0002c0005t0004g0278	1	360	0.0028	-39	c.132 others(58): Show c.1324+1677_1325-1669delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCT		PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11						chr7	TogoVar
PARVB_chr22_44019302_44177939	44115167	TGTACCAA others(32): Show TGTACCAACACAGATACTTTGTTACTAAGTAAGGCCCTGC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	332	0.0030	-39	c.274 others(56): Show c.274-3870_274-3832delGTACCAACACAGATACTTTGTTACTAAG TAAGGCCCTGC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12						chr22	TogoVar
PAWR_chr12_79579879_79695964	79613949	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	256	0.0039	-39	c.649 others(54): Show c.649-379_649-341delAAAAAAAAATATATATATATATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18992.hp1 NA19056.hp1 NA18987.hp1 NA18992.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0107 a0001c0001t0002g0116 a0002c0002t0001g0198 a0001c0001t0002g0107 a0001c0001t0002g0116 a0002c0002t0001g0198	3	256	0.0117	-39	c.649 others(54): Show c.649-381_649-343delAAAAAAAAAAATATATATATATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613953	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02027.hp2 HG03195.hp1 HG01261.hp1 HG02027.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0191 a0002c0002t0005g0249 a0002c0002t0005g0252 a0002c0002t0001g0191 a0002c0002t0005g0249 a0002c0002t0005g0252	3	256	0.0117	-39	c.649 others(54): Show c.649-383_649-345delAAAAAAAAAAAAATATATATATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613955	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02717.hp2 others(9): Show HG02572.hp1 HG02630.hp2 HG02717.hp2 HG03041.hp2 HG06807.hp1 NA18945.hp1 NA18956.hp1 NA18973.hp2 NA18992.hp2 NA19002.hp2 NA19006.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0032 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0032 a0002c0002t0001 a0002c0002t0005 a0002c0002t0018	a0001c0001t0032g0006 a0002c0002t0001g0170 a0002c0002t0001g0193 others(9): Show a0001c0001t0032g0006 a0002c0002t0001g0170 a0002c0002t0001g0193 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0005g0243 a0002c0002t0005g0250 a0002c0002t0018g0245	12	256	0.0469	-39	c.649 others(54): Show c.649-385_649-347delAAAAAAAAAAAAAAATATATATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02258.hp1 others(4): Show HG01192.hp1 HG01884.hp2 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG02896.hp2 HG03486.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0002c0002t0005 a0004c0006t0011 a0002c0002t0001 a0002c0002t0005 a0004c0006t0011	a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0005g0183 others(4): Show a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0005g0183 a0002c0002t0005g0244 a0002c0002t0005g0251 a0004c0006t0011g0240 a0004c0006t0011g0241	7	256	0.0273	-39	c.649 others(54): Show c.649-387_649-349delAAAAAAAAAAAAAAAAATATATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAWR_chr12_79579879_79695964	79613961	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0247 a0002c0002t0005g0247	1	256	0.0039	-39	c.649 others(54): Show c.649-391_649-353delAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATA		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6						chr12	TogoVar
PAXBP1_chr21_32728899_32776755	32771875	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	360	0.0028	-39	c.-24 others(48): Show c.-246_-208delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC		PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding					121		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45852425	CAGCCACC others(32): Show CAGCCACCCTGACTTCTGTTCGGAAGGAACACAGCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02559.hp2 others(9): Show HG02055.hp1 HG02145.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp2 HG03540.hp2 NA18957.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0003t0014 a0001c0003t0020	a0001c0001t0001g0148 a0001c0001t0002g0107 a0001c0001t0003g0104 others(9): Show a0001c0001t0001g0148 a0001c0001t0002g0107 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0119 a0001c0001t0023g0111 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0003t0020g0222	12	292	0.0411	-39	c.10+ others(54): Show c.10+2345_10+2383delCTGTTCGGAAGGAACACAGCCCTGTAGCCA CCCTGACTT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45852582	AGCCATGC others(32): Show AGCCATGCTGATTTTTGTTCAGAAGGAACACAGCCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 NA18957.hp2 HG02559.hp2 HG03098.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0014 a0001c0001t0001 a0001c0003t0014	a0001c0001t0001g0148 a0001c0003t0014g0290 a0001c0003t0014g0291 a0001c0001t0001g0148 a0001c0003t0014g0290 a0001c0003t0014g0291	3	292	0.0103	-39	c.10+ others(54): Show c.10+2492_10+2530delTGCTGATTTTTGTTCAGAAGGAACACAGCC CTGCGGCCA		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCDH15_chr10_53797771_54806231	54375778	TATTTGAA others(32): Show TATTTGAAATGGAATATATATATATAATATATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp1 HG02145.hp1 others(6): Show HG01192.hp1 HG02109.hp1 HG02145.hp1 HG02602.hp1 HG02896.hp2 HG03139.hp2 HG03492.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0008 a0011 a0020 a0037	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0007 a0008c0010 a0011c0017 a0020c0027 a0037c0018	a0001c0001t0014 a0002c0002t0004 a0003c0003t0009 others(6): Show a0001c0001t0014 a0002c0002t0004 a0003c0003t0009 a0005c0005t0002 a0007c0007t0003 a0008c0010t0001 a0011c0017t0002 a0020c0027t0001 a0037c0018t0001	a0001c0001t0014g0074 a0002c0002t0004g0077 a0003c0003t0009g0018 others(6): Show a0001c0001t0014g0074 a0002c0002t0004g0077 a0003c0003t0009g0018 a0005c0005t0002g0094 a0007c0007t0003g0065 a0008c0010t0001g0091 a0011c0017t0002g0072 a0020c0027t0001g0080 a0037c0018t0001g0004	9	102	0.0882	-39	c.318 others(56): Show c.318+2965_318+3003delTTTTATTTATATATTATATATATATATT CCATTTCAAAT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	4/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54375778	TATTTGAA others(32): Show TATTTGAAATGGAATATATATATATAATATATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG02602.hp1 others(4): Show HG01192.hp1 HG02145.hp2 HG02602.hp1 HG03139.hp2 HG03492.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0010 a0011 a0033	a0001c0001 a0002c0002 a0003c0025 others(4): Show a0001c0001 a0002c0002 a0003c0025 a0005c0035 a0010c0010 a0011c0021 a0033c0022	a0001c0001t0001 a0002c0002t0002 a0003c0025t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0025t0001 a0005c0035t0001 a0010c0010t0003 a0011c0021t0001 a0033c0022t0001	a0001c0001t0001g0083 a0002c0002t0002g0071 a0003c0025t0001g0018 others(4): Show a0001c0001t0001g0083 a0002c0002t0002g0071 a0003c0025t0001g0018 a0005c0035t0001g0086 a0010c0010t0003g0068 a0011c0021t0001g0066 a0033c0022t0001g0004	7	94	0.0745	-39	c.318 others(56): Show c.318+2965_318+3003delTTTTATTTATATATTATATATATATATT CCATTTCAAAT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	4/32						chr10	TogoVar
PCLO_chr7_82749012_83167884	83164703	CTTTACAA others(32): Show CTTTACAATATTTGTAAATTGAAAAATATTAATAAGTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0016 a0004c0002t0001g0016	1	188	0.0053	-39	c.-21 others(50): Show c.-2150_-2112delATGACTTATTAATATTTTTCAATTTACAAATATT GTAAA		PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding					1820		chr7	TogoVar
PCNT_chr21_46319156_46450769	46334557	GTGGGATG others(32): Show GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01516.hp2 HG01516.hp2	a0069 a0069	a0069c0089 a0069c0089	a0069c0089t0001 a0069c0089t0001	a0069c0089t0001g0244 a0069c0089t0001g0244	1	332	0.0030	-39	c.467 others(46): Show c.467_505delATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAG C	p.His others(13): Show p.His156_Gln168del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	3/47	540/10526	467/10011	156/3336		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDCD10_chr3_167678298_167739892	167687716	TATCAGCT others(32): Show TATCAGCTACATTTGAAAGAAATTTGTGAGAGAAAAGAAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	284	0.0035	-39	c.396 others(52): Show c.396-62_396-24delGTTCTTTTCTCTCACAAATTTCTTTCAAATGT AGCTGAT		PDCD10	ENSG00000114209.15	transcript	ENST00000392750.7	protein_coding	6/8						chr3	TogoVar
PDE4A_chr19_10415538_10474630	10443249	GGTGGCTC others(32): Show GGTGGCTCACGCCTGTAATCCCAGTGTTTTGGGAGCCCAA	G G	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0187 a0001c0001t0038g0187	1	322	0.0031	-39	c.321 others(56): Show c.321-2967_321-2929delTGGCTCACGCCTGTAATCCCAGTGTTTT GGGAGCCCAAG		PDE4A	ENSG00000065989.16	transcript	ENST00000380702.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
PDE4DIP_chr1_148839428_149038016	148866591	AGGAAGGA others(32): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0022 a0001c0013t0009g0022	1	24	0.0417	-39	c.77- others(54): Show c.77-1873_77-1835delAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGGGAAGG		PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	2/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE6B_chr4_620573_675782	622809	GTCACAGG others(32): Show GTCACAGGTGTGTCTCACAGGTGCATGTCACAGGTGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0188 a0001c0021t0002g0188	1	308	0.0033	-39	c.-28 others(50): Show c.-2817_-2779delTCACAGGTGTGTCTCACAGGTGCATGTCACAGGT GCGTC		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding					2763		chr4	TogoVar
PDE6B_chr4_620573_675782	669452	CACTACCC others(32): Show CACTACCCCATGCTATTCCCACTACGCCATGCTATTCCCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01358.hp2 HG02622.hp2 others(1): Show HG00642.hp2 HG01358.hp2 HG02622.hp2 HG02683.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0007c0028 a0004c0007 a0007c0028	a0004c0007t0008 a0007c0028t0008 a0004c0007t0008 a0007c0028t0008	a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 others(1): Show a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 a0007c0028t0008g0256	4	308	0.0130	-39	c.250 others(56): Show c.2504-593_2504-555delACTACCCCATGCTATTCCCACTACGCCA TGCTATTCCCG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21						chr4	TogoVar
PDE9A_chr21_42648621_42780509	42689154	TGAGGCTT others(32): Show TGAGGCTTCAGTGGGCATGGCCAGTGCCGTCCCCCTCAGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0236 a0001c0005t0005g0236	1	324	0.0031	-39	c.218 others(56): Show c.218+1165_218+1203delCTTCAGTGGGCATGGCCAGTGCCGTCCC CCTCAGCGAGG		PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDS5B_chr13_32581452_32783019	32721525	GGGGTGGC others(32): Show GGGGTGGCGGCCGGGCAGAGGTGCTCCTCACCTCCCAGAT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0298 a0001c0001t0023g0298	1	334	0.0030	-39	c.212 others(60): Show c.2124-10572_2124-10534delTGGCGGCCGGGCAGAGGTGCTCCT CACCTCCCAGATGGG		PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34					INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 1684 hits)