Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAX9_chr14_36656860_36684362	36679830	GACAATAT others(11): Show GACAATATCTCATCAACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	444	0.0023	-18	c.33 others(29): Show c.3379_*3396delACAATATCTCATCAACAA	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding		469		chr14	TogoVar
PAXBP1_chr21_32728899_32776755	32771931	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	357	0.0028	-18	c.-28 others(27): Show c.-281_-264delGCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		177		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771949	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	341	0.0029	-18	c.-29 others(27): Show c.-299_-282delTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		195		chr21	TogoVar
PBK_chr8_27804624_27842817	27833263	GGGTGGAT others(11): Show GGGTGGATCACCTGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(132): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp2 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0002c0005 a0003c0004 others(2): Show a0002c0002 a0002c0005 a0003c0004 a0004c0006 a0005c0009	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(5): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0005t0002 a0003c0004t0002 a0004c0006t0002 a0005c0009t0002	a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0012 others(88): Show a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0132 a0002c0002t0002g0196 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0046 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0050 a0002c0002t0005g0053 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0060 a0002c0002t0009g0120 a0002c0002t0009g0121 a0002c0005t0002g0032 a0002c0005t0002g0119 a0002c0005t0002g0126 a0002c0005t0002g0127 a0002c0005t0002g0128 a0002c0005t0002g0129 a0002c0005t0002g0130 a0002c0005t0002g0131 a0003c0004t0002g0014 a0003c0004t0002g0135 a0003c0004t0002g0136 a0003c0004t0002g0137 a0003c0004t0002g0138 a0003c0004t0002g0139 a0003c0004t0002g0140 a0003c0004t0002g0141 a0003c0004t0002g0142 a0004c0006t0002g0031 a0004c0006t0002g0122 a0004c0006t0002g0123 a0004c0006t0002g0124 a0004c0006t0002g0125 a0004c0006t0002g0133 a0004c0006t0002g0134 a0005c0009t0002g0026 a0005c0009t0002g0087	135	390	0.3462	-18	c.-20 others(33): Show c.-20-148_-20-131delGACCTCAGGTGATCCACC	PBK	ENSG00000168078.10	transcript	ENST00000301905.9	protein_coding	1/7			chr8	TogoVar
PBLD_chr10_68277660_68337928	68330709	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(75): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 NA18747.hp2 NA18942.hp1 NA18949.hp1 NA18950.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0004t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(72): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0268 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0008g0167 a0001c0001t0010g0204 a0001c0004t0001g0151 a0001c0004t0001g0170 a0001c0004t0001g0185 a0001c0004t0001g0215 a0002c0002t0002g0195 a0002c0003t0002g0168 a0002c0003t0002g0211 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0276 a0002c0003t0003g0279 a0002c0003t0003g0283 a0002c0003t0003g0284	78	117	0.6667	-18	c.-60 others(35): Show c.-60+2057_-60+2074delACACACACACACACACAC	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding	1/9			chr10	TogoVar
PBOV1_chr6_138210986_138223491	138215875	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18973.hp1 NA18990.hp2 others(7): Show NA18950.hp1 NA18973.hp1 NA18990.hp2 NA19003.hp1 NA19005.hp2 NA19056.hp2 NA19058.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0010 a0004c0004t0002 a0002c0002t0002 a0002c0002t0010 a0004c0004t0002	a0002c0002t0002g0000 a0002c0002t0010g0000 a0004c0004t0002g0000 a0002c0002t0002g0000 a0002c0002t0010g0000 a0004c0004t0002g0000	10	382	0.0262	-18	c.20 others(29): Show c.2095_*2112delTCTTTCACACACACACAC	PBOV1	ENSG00000254440.3	transcript	ENST00000527246.3	protein_coding		110		chr6	TogoVar
PBRM1_chr3_52540367_52690913	52596436	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19058.hp1 NA21309.hp1 HG04204.hp1 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0002 a0001c0004t0001 a0001c0011t0001 a0001c0001t0002 a0001c0004t0001 a0001c0011t0001	a0001c0001t0002g0097 a0001c0004t0001g0245 a0001c0011t0001g0300 a0001c0001t0002g0097 a0001c0004t0001g0245 a0001c0011t0001g0300	3	35	0.0857	-18	c.282 others(37): Show c.2824+7067_2824+7084delTTTTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52647451	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	277	0.0036	-18	c.813 others(33): Show c.813+875_813+892delATATATATATATTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	8/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52647453	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18747.hp1 NA18951.hp2 others(1): Show HG01517.hp2 NA18747.hp1 NA18951.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0141 a0001c0002t0001g0143 others(1): Show a0001c0002t0001g0129 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0181	4	281	0.0142	-18	c.813 others(33): Show c.813+873_813+890delATATATATATATATTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	8/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164571873	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	39	0.0256	-18	c.265 others(35): Show c.265+8588_265+8605delATATATATATATATATAT	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125943352	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02615.hp1 others(10): Show HG01109.hp2 HG01884.hp2 HG02615.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02976.hp1 HG03041.hp1 HG03516.hp2 NA18906.hp2 NA18947.hp2 NA18967.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0254 others(10): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0006g0193 a0001c0001t0006g0258 a0001c0001t0012g0259 a0001c0003t0001g0270	13	17	0.7647	-18	c.843 others(35): Show c.843+7775_843+7792delAAAAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19556747	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	78	0.0128	-18	c.52 others(29): Show c.5260_*5277delTTTTTTTTTTTTTTTTTT	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding		4965		chr19	TogoVar
PCBP1_chr2_70082477_70094203	70093003	AGTTTTTG others(11): Show AGTTTTTGTTGTTGTTGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19091.hp1 NA19076.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	349	0.0057	-18	c.41 others(29): Show c.4190_*4207delGTTTTTGTTGTTGTTGTT	PCBP1	ENSG00000169564.7	transcript	ENST00000303577.7	protein_coding		3801		chr2	TogoVar
PCBP2_chr12_53447102_53486162	53451331	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18941.hp1 NA18947.hp1 others(1): Show HG00597.hp2 NA18941.hp1 NA18947.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	41	0.0976	-18	c.-11 others(29): Show c.-1120_-1103delATATATATATATATATAT	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding		770		chr12	TogoVar
PCBP3_chr21_45638725_45947450	45669801	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0288 a0001c0003t0014g0289 a0001c0003t0014g0288 a0001c0003t0014g0289	2	249	0.0080	-18	c.-20 others(35): Show c.-200+851_-200+868delGTGTATATATATATATAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45784379	TCTACCTC others(11): Show TCTACCTCTACCTCTACCG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00673.hp1 others(33): Show HG00438.hp1 HG00558.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01175.hp1 HG01255.hp2 HG01516.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 NA18955.hp2 NA18962.hp1 NA18969.hp1 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp2 NA19087.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018 a0001c0001t0024	a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0231 others(32): Show a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0005g0002 a0001c0001t0005g0271 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0284 a0001c0001t0007g0236 a0001c0001t0007g0240 a0001c0001t0007g0245 a0001c0001t0007g0246 a0001c0001t0007g0258 a0001c0001t0018g0264 a0001c0001t0024g0238	36	290	0.1241	-18	c.-12 others(39): Show c.-126+28939_-126+28956delTCTACCGCTACCTCTACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45811281	GGCTCTCC others(11): Show GGCTCTCCGCAGCAGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19056.hp2 HG00673.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	290	0.0069	-18	c.-12 others(39): Show c.-125-38677_-125-38660delTCTCCGCAGCAGTGCTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815018	GTGAGTGG others(11): Show GTGAGTGGTGAGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02717.hp1 others(5): Show HG02055.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0003t0020	a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 others(5): Show a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0023g0113 a0001c0003t0020g0224	8	290	0.0276	-18	c.-12 others(39): Show c.-125-34929_-125-34912delAGTGATGAGTGGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815354	GGTGAGTG others(11): Show GGTGAGTGGTGAGTGATGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0160 a0001c0001t0013g0160	1	290	0.0034	-18	c.-12 others(39): Show c.-125-34591_-125-34574delTGAGTGAGTGGTGAGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898626	TCCCTCTC others(11): Show TCCCTCTCCCTCCACGGGC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	290	0.0034	-18	c.166 others(33): Show c.166-966_166-949delCCCTCCACGGGCCCCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45898758	TCCCTCTG others(11): Show TCCCTCTGCCTCCACGGGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02965.hp2 others(2): Show HG02559.hp1 HG02630.hp1 HG02965.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0022 a0001c0001t0002 a0001c0001t0009 a0001c0001t0022	a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0244 others(2): Show a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0244 a0001c0001t0009g0107 a0001c0001t0022g0217	5	290	0.0172	-18	c.166 others(33): Show c.166-832_166-815delCTCCACGGGCCCCTCTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100184842	GGGCTGGA others(11): Show GGGCTGGATTTGGCCTGTA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	172	0.0058	-18	c.469 others(37): Show c.469-24484_469-24467delGATTTGGCCTGTAGGCTG	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100377866	GTTCCTGT others(11): Show GTTCCTGTCATATCATTAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG03098.hp2 others(2): Show HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0004g0122	5	172	0.0291	-18	c.174 others(37): Show c.1746+9295_1746+9312delCCTGTCATATCATTAATT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100440156	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01081.hp1 others(14): Show HG00099.hp1 HG00597.hp1 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG01358.hp2 HG01928.hp2 HG01993.hp2 HG02055.hp2 HG02132.hp2 HG02257.hp1 NA18522.hp1 NA18945.hp1 NA18968.hp2 NA18999.hp1 NA19030.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0058 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0058 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0002g0174 a0001c0001t0003g0075 a0001c0002t0001g0087 a0004c0004t0001g0129	17	34	0.5000	-18	c.184 others(37): Show c.1846-9059_1846-9042delTATATATATATATATATA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100458440	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG03098.hp2 others(1): Show HG02615.hp1 HG02886.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0004g0122	4	57	0.0702	-18	c.189 others(37): Show c.1899+9164_1899+9181delACACACACACACACACAC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100488626	TTGTTTTG others(11): Show TTGTTTTGTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	172	0.0058	-18	c.190 others(39): Show c.1900-26799_1900-26782delGTTTTGTTTTTTTTTTGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136268087	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp2 HG02965.hp2 others(3): Show HG02135.hp1 HG02280.hp2 HG02965.hp2 HG03041.hp1 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019	6	117	0.0513	-18	c.543 others(35): Show c.543+6039_543+6056delATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91778589	TCACACAC others(11): Show TCACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	22	0.0455	-18	c.-14 others(29): Show c.-1473_-1456delCACACACACACACACACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding		785		chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92132285	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	33	0.0303	-18	c.303 others(39): Show c.3034-69068_3034-69051delAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92173984	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0128 a0001c0001t0021g0128	1	13	0.0769	-18	c.303 others(39): Show c.3034-27379_3034-27362delAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92499636	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01099.hp1 others(4): Show HG00738.hp1 HG01069.hp1 HG01099.hp1 HG02965.hp1 HG03098.hp1 HG06807.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0022 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0002g0061 a0001c0001t0010g0120 others(4): Show a0001c0001t0001g0129 a0001c0001t0002g0061 a0001c0001t0010g0120 a0001c0001t0010g0125 a0001c0001t0010g0143 a0001c0001t0022g0013 a0001c0002t0001g0004	7	8	0.8750	-18	c.336 others(39): Show c.3367+31342_3367+31359delAAAAAAAAAAAAAAAAAA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92575995	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02965.hp1 others(3): Show HG02258.hp1 HG02630.hp2 HG02965.hp1 HG03453.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 others(3): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0003t0012	a0001c0001t0006g0050 a0001c0001t0008g0049 a0001c0001t0011g0126 others(3): Show a0001c0001t0006g0050 a0001c0001t0008g0049 a0001c0001t0011g0126 a0001c0001t0012g0052 a0001c0001t0022g0013 a0001c0003t0012g0150	6	154	0.0390	-18	c.336 others(39): Show c.3368-42267_3368-42250delTATATATATATATATACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92575997	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01081.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01515.hp1 HG01943.hp1 HG02300.hp1 HG02615.hp2 HG02976.hp2 HG04228.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0021 a0001c0001t0025 a0001c0002t0020	a0001c0001t0003g0079 a0001c0001t0004g0062 a0001c0001t0004g0075 others(10): Show a0001c0001t0003g0079 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0004g0084 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0014g0046 a0001c0001t0014g0152 a0001c0001t0021g0128 a0001c0001t0025g0145 a0001c0002t0020g0006	13	154	0.0844	-18	c.336 others(39): Show c.3368-42265_3368-42248delTATATATATATATACACA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11Y_chrY_4995296_5747224	5486690	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02040.hp1 HG02647.hp1 others(9): Show HG01106.hp1 HG02040.hp1 HG02647.hp1 HG03688.hp1 HG03710.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18945.hp1 NA18966.hp1 NA18984.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0051 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0007g0050	12	115	0.1043	-18	c.285 others(39): Show c.2854-14351_2854-14334delCACATATATATATATATA	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH11Y_chrY_4995296_5747224	5637921	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG03225.hp1 others(1): Show HG01074.hp1 HG01109.hp1 HG03225.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0113	4	8	0.5000	-18	c.307 others(39): Show c.3076+56159_3076+56176delTTTTTTTTTTTTTTTTTT	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	5/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCDH15_chr10_53797771_54806231	53851671	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02896.hp2 others(2): Show HG02280.hp1 HG02280.hp2 HG02896.hp2 NA18906.hp1 NA19043.hp2	a0002 a0006 a0025 a0002 a0006 a0025	a0002c0002 a0006c0006 a0025c0027 a0002c0002 a0006c0006 a0025c0027	a0002c0002t0004 a0002c0002t0023 a0002c0002t0027 others(2): Show a0002c0002t0004 a0002c0002t0023 a0002c0002t0027 a0006c0006t0006 a0025c0027t0001	a0002c0002t0004g0061 a0002c0002t0023g0017 a0002c0002t0027g0059 others(2): Show a0002c0002t0004g0061 a0002c0002t0023g0017 a0002c0002t0027g0059 a0006c0006t0006g0046 a0025c0027t0001g0080	5	12	0.4167	-18	c.380 others(37): Show c.3806+5486_3806+5503delATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53918713	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03041.hp2 HG03209.hp2 HG01167.hp1 HG03041.hp2 HG03209.hp2	a0001 a0014 a0028 a0001 a0014 a0028	a0001c0001 a0014c0033 a0028c0011 a0001c0001 a0014c0033 a0028c0011	a0001c0001t0003 a0014c0033t0017 a0028c0011t0012 a0001c0001t0003 a0014c0033t0017 a0028c0011t0012	a0001c0001t0003g0098 a0014c0033t0017g0038 a0028c0011t0012g0084 a0001c0001t0003g0098 a0014c0033t0017g0038 a0028c0011t0012g0084	3	35	0.0857	-18	c.337 others(39): Show c.3374-15361_3374-15344delGTGTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	25/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53945837	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0012 a0010c0009t0012	a0010c0009t0012g0053 a0010c0009t0012g0053	1	11	0.0909	-18	c.312 others(37): Show c.3123-4880_3123-4863delTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	23/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54077690	ATAAGTCA others(11): Show ATAAGTCAAGTTCTTCAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp2 HG03130.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0077 a0002c0002t0004g0097 a0002c0002t0004g0077 a0002c0002t0004g0097	2	100	0.0200	-18	c.209 others(37): Show c.2091+1623_2091+1640delATTGAAGAACTTGACTTA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	17/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54105277	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0010 a0006c0006t0010	a0006c0006t0010g0032 a0006c0006t0010g0032	1	38	0.0263	-18	c.191 others(39): Show c.1918-15232_1918-15215delATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	15/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54174680	CTTTCTTT others(11): Show CTTTCTTTTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	100	0.0100	-18	c.159 others(37): Show c.1590+8746_1590+8763delAGAAAAAGAAAAAAGAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	13/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54234132	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0059 a0002c0002t0027g0059	1	31	0.0323	-18	c.985 others(35): Show c.985+2673_985+2690delCACACACACACACACACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	9/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54242128	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG02145.hp2 others(3): Show HG00642.hp1 HG01192.hp2 HG02145.hp2 HG03579.hp2 HG03710.hp1 NA19043.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0015 a0018	a0001c0001 a0002c0002 a0005c0040 others(3): Show a0001c0001 a0002c0002 a0005c0040 a0008c0007 a0015c0023 a0018c0028	a0001c0001t0001 a0002c0002t0023 a0005c0040t0001 others(3): Show a0001c0001t0001 a0002c0002t0023 a0005c0040t0001 a0008c0007t0022 a0015c0023t0026 a0018c0028t0004	a0001c0001t0001g0102 a0002c0002t0023g0017 a0005c0040t0001g0063 others(3): Show a0001c0001t0001g0102 a0002c0002t0023g0017 a0005c0040t0001g0063 a0008c0007t0022g0075 a0015c0023t0026g0081 a0018c0028t0004g0013	6	45	0.1333	-18	c.877 others(35): Show c.877-5215_877-5198delTATATATATATATATAAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54316529	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0006 a0003c0003t0004g0006	1	42	0.0238	-18	c.876 others(33): Show c.876+724_876+741delGTGTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54442414	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0029 a0030 a0029 a0030	a0029c0026 a0030c0025 a0029c0026 a0030c0025	a0029c0026t0008 a0030c0025t0007 a0029c0026t0008 a0030c0025t0007	a0029c0026t0008g0083 a0030c0025t0007g0079 a0029c0026t0008g0083 a0030c0025t0007g0079	2	15	0.1333	-18	c.158 others(37): Show c.158-63490_158-63473delTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53851671	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 NA18906.hp1 others(1): Show HG02280.hp1 HG02280.hp2 NA18906.hp1 NA19043.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0006c0008t0001	a0002c0002t0002g0056 a0002c0002t0009g0017 a0002c0002t0010g0055 others(1): Show a0002c0002t0002g0056 a0002c0002t0009g0017 a0002c0002t0010g0055 a0006c0008t0001g0043	4	10	0.4000	-18	c.380 others(37): Show c.3806+5486_3806+5503delATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53918713	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0021 a0001 a0021	a0001c0007 a0021c0011 a0001c0007 a0021c0011	a0001c0007t0001 a0021c0011t0001 a0001c0007t0001 a0021c0011t0001	a0001c0007t0001g0090 a0021c0011t0001g0076 a0001c0007t0001g0090 a0021c0011t0001g0076	2	33	0.0606	-18	c.337 others(39): Show c.3374-15361_3374-15344delGTGTGTGTGTGTGTGTGT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	25/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53945837	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0008 a0019c0026t0008	a0019c0026t0008g0049 a0019c0026t0008g0049	1	11	0.0909	-18	c.312 others(37): Show c.3123-4880_3123-4863delTATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	23/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54077690	ATAAGTCA others(11): Show ATAAGTCAAGTTCTTCAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG06807.hp1 HG03130.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0089 a0002c0002t0002g0071 a0002c0002t0002g0089	2	92	0.0217	-18	c.209 others(37): Show c.2091+1623_2091+1640delATTGAAGAACTTGACTTA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	17/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54105277	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0031 a0006c0008t0001g0031	1	34	0.0294	-18	c.191 others(39): Show c.1918-15232_1918-15215delATATATATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	15/32			chr10	TogoVar

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