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
PHKG2_chr16_30743425_30766176	30748999	GGGTGGTG others(11): Show GGGTGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp2 HG02572.hp2 others(12): Show HG01496.hp2 HG01952.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG04228.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0027	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0105 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0002g0034 a0001c0001t0004g0015 a0001c0001t0004g0120 a0001c0001t0004g0164 a0001c0001t0005g0111 a0001c0001t0005g0119 a0001c0001t0027g0028	15	264	0.0568	-18	c.95+ others(31): Show c.95+158_95+175delGTGGTGGTGGTGGTGGTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHLDA3_chr1_201459278_201474188	201467731	CCCACTGA others(11): Show CCCACTGAGGCCCCACCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	442	0.0023	-18	c.62 others(33): Show c.62+592_*62+609delAAGGTGGGGCCTCAGTGG	PHLDA3	ENSG00000174307.7	transcript	ENST00000367311.5	protein_coding	1/1			chr1	TogoVar
PHLDB1_chr11_118602615_118663028	118607329	TGTGGTGG others(11): Show TGTGGTGGTGGTGGTGGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03098.hp1 HG03453.hp2 HG03041.hp1 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0200 a0001c0003t0005g0201 a0001c0003t0005g0220 a0001c0003t0005g0200 a0001c0003t0005g0201 a0001c0003t0005g0220	3	356	0.0084	-18	c.-39 others(27): Show c.-391_-374delGTGGTGGTGGTGGTGGTG	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding		285		chr11	TogoVar
PHLDB1_chr11_118602615_118663028	118608971	CCCCAGCT others(11): Show CCCCAGCTCACACACGAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18906.hp2 HG02109.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0009 a0001c0024t0009 a0001c0002t0009 a0001c0024t0009	a0001c0002t0009g0320 a0001c0024t0009g0319 a0001c0002t0009g0320 a0001c0024t0009g0319	2	356	0.0056	-18	c.-22 others(35): Show c.-22+1288_-22+1305delAAGCCCAGCTCACACACG	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHLDB1_chr11_118602615_118663028	118609118	GTCACACA others(11): Show GTCACACACACAGCCCAGC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0032	1	356	0.0028	-18	c.-22 others(35): Show c.-22+1445_-22+1462delCACAGCCCAGCTCACACA	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHLDB1_chr11_118602615_118663028	118609295	GTTACACA others(11): Show GTTACACACACAGCCCAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(143): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0007 a0008 a0009 a0011 a0012 a0013 a0016 a0020 a0023	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0004 a0004c0022 a0007c0015 a0008c0014 a0009c0020 a0011c0029 a0012c0030 a0013c0034 a0016c0019 a0020c0023 a0023c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0002t0009 a0001c0003t0018 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0002c0004t0006 a0002c0004t0009 a0004c0022t0001 a0007c0015t0001 a0008c0014t0001 a0009c0020t0001 a0011c0029t0001 a0012c0030t0001 a0013c0034t0001 a0016c0019t0007 a0020c0023t0012 a0023c0017t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0004g0038 a0001c0001t0004g0046 a0001c0001t0004g0050 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0095 a0001c0001t0004g0102 a0001c0001t0004g0111 a0001c0001t0004g0122 a0001c0001t0004g0135 a0001c0001t0004g0312 a0001c0001t0012g0087 a0001c0001t0016g0036 a0001c0001t0017g0063 a0001c0002t0009g0146 a0001c0003t0018g0064 a0001c0005t0001g0009 a0001c0005t0001g0117 a0001c0005t0001g0118 a0001c0005t0001g0120 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0004g0121 a0001c0013t0001g0055 a0002c0004t0006g0148 a0002c0004t0006g0149 a0002c0004t0006g0150 a0002c0004t0006g0151 a0002c0004t0006g0152 a0002c0004t0006g0153 a0002c0004t0006g0154 a0002c0004t0006g0155 a0002c0004t0006g0156 a0002c0004t0006g0157 a0002c0004t0006g0158 a0002c0004t0006g0159 a0002c0004t0009g0145 a0004c0022t0001g0116 a0007c0015t0001g0045 a0008c0014t0001g0044 a0009c0020t0001g0034 a0011c0029t0001g0119 a0012c0030t0001g0115 a0013c0034t0001g0134 a0016c0019t0007g0062 a0020c0023t0012g0086 a0023c0017t0004g0089	146	356	0.4101	-18	c.-22 others(35): Show c.-22+1616_-22+1633delTACACACACAGCCCAGCT	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHLDB1_chr11_118602615_118663028	118648269	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03704.hp1 NA18940.hp2 others(5): Show HG00558.hp2 HG03704.hp1 NA18940.hp2 NA18955.hp2 NA18957.hp1 NA19007.hp1 NA19030.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0018 others(1): Show a0001c0002 a0001c0003 a0001c0018 a0003c0006	a0001c0002t0002 a0001c0003t0003 a0001c0003t0022 others(4): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0022 a0001c0018t0010 a0003c0006t0001 a0003c0006t0004 a0003c0006t0007	a0001c0002t0002g0227 a0001c0003t0003g0203 a0001c0003t0022g0192 others(5): Show a0001c0002t0002g0227 a0001c0003t0003g0203 a0001c0003t0022g0192 a0001c0018t0010g0028 a0003c0006t0001g0007 a0003c0006t0004g0007 a0003c0006t0004g0031 a0003c0006t0007g0294	8	356	0.0225	-18	c.365 others(35): Show c.3654+231_3654+248delGTGTGTGTGTGTGTGTGT	PHLDB1	ENSG00000019144.20	transcript	ENST00000600882.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHLPP2_chr16_71639924_71729701	71677453	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00738.hp1 others(88): Show HG00423.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0012	a0001c0002 a0001c0005 a0001c0013 others(5): Show a0001c0002 a0001c0005 a0001c0013 a0002c0003 a0003c0004 a0005c0008 a0008c0012 a0012c0027	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(11): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0020 a0001c0005t0002 a0001c0013t0002 a0002c0003t0003 a0003c0004t0002 a0003c0004t0019 a0005c0008t0002 a0008c0012t0030 a0012c0027t0002	a0001c0002t0002g0002 a0001c0002t0002g0024 a0001c0002t0002g0136 others(86): Show a0001c0002t0002g0002 a0001c0002t0002g0024 a0001c0002t0002g0136 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0205 a0001c0002t0002g0226 a0001c0002t0008g0001 a0001c0002t0008g0140 a0001c0002t0008g0143 a0001c0002t0008g0209 a0001c0002t0009g0148 a0001c0002t0009g0149 a0001c0002t0009g0201 a0001c0002t0009g0202 a0001c0002t0013g0023 a0001c0002t0013g0025 a0001c0002t0015g0022 a0001c0002t0020g0139 a0001c0005t0002g0116 a0001c0005t0002g0117 a0001c0005t0002g0163 a0001c0005t0002g0164 a0001c0005t0002g0165 a0001c0005t0002g0166 a0001c0005t0002g0167 a0001c0005t0002g0168 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0172 a0001c0005t0002g0173 a0001c0005t0002g0266 a0001c0013t0002g0186 a0002c0003t0003g0241 a0002c0003t0003g0244 a0003c0004t0002g0210 a0003c0004t0002g0211 a0003c0004t0002g0212 a0003c0004t0002g0214 a0003c0004t0002g0216 a0003c0004t0002g0217 a0003c0004t0002g0218 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0221 a0003c0004t0002g0222 a0003c0004t0002g0223 a0003c0004t0002g0224 a0003c0004t0002g0228 a0003c0004t0002g0229 a0003c0004t0002g0263 a0003c0004t0002g0267 a0003c0004t0002g0268 a0003c0004t0002g0269 a0003c0004t0002g0271 a0003c0004t0002g0272 a0003c0004t0019g0225 a0005c0008t0002g0213 a0005c0008t0002g0215 a0005c0008t0002g0227 a0005c0008t0002g0230 a0008c0012t0030g0189 a0012c0027t0002g0203	91	324	0.2809	-18	c.126 others(35): Show c.1269-822_1269-805delATATATATATATATATAT	PHLPP2	ENSG00000040199.18	transcript	ENST00000568954.5	protein_coding	8/18			chr16	TogoVar
PHOSPHO1_chr17_49218366_49235787	49228244	CTCTCCTT others(11): Show CTCTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18960.hp1 NA18990.hp1 others(2): Show HG02129.hp2 NA18960.hp1 NA18990.hp1 NA19005.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0039 a0001c0001t0002g0129 a0001c0001t0002g0136	5	420	0.0119	-18	c.-67 others(35): Show c.-67-1504_-67-1487delAGGAAGGAAGGAAGGAGA	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding	1/2			chr17	TogoVar
PHPT1_chr9_136844409_136856024	136855250	TCAGATCC others(11): Show TCAGATCCTCCTGGCCGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	-18	c.44 others(29): Show c.4404_*4421delCAGATCCTCCTGGCCGGG	PHPT1	ENSG00000054148.18	transcript	ENST00000247665.12	protein_coding		4227		chr9	TogoVar
PHRF1_chr11_571470_617222	579220	TCCCCCAG others(11): Show TCCCCCAGCCCTGCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0016 a0017 a0016 a0017	a0016c0031 a0017c0040 a0016c0031 a0017c0040	a0016c0031t0001 a0017c0040t0001 a0016c0031t0001 a0017c0040t0001	a0016c0031t0001g0217 a0017c0040t0001g0181 a0016c0031t0001g0217 a0017c0040t0001g0181	2	279	0.0072	-18	c.-21 others(35): Show c.-21-2238_-21-2221delCTCCCCCCAGCCCTGCTC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PHTF1_chr1_113691831_113764486	113692573	CCTCCTCA others(11): Show CCTCCTCAGTCTACTCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	330	0.0030	-18	c.51 others(29): Show c.5114_*5131delATTGAGTAGACTGAGGAG	PHTF1	ENSG00000116793.16	transcript	ENST00000369604.6	protein_coding		4257		chr1	TogoVar
PHTF2_chr7_77793773_77962225	77912710	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp2 NA18969.hp2 HG02622.hp2 HG02895.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0154 a0001c0001t0001g0209 a0001c0001t0001g0074 a0001c0001t0001g0154 a0001c0001t0001g0209	3	314	0.0096	-18	c.674 others(35): Show c.674+2323_674+2340delTTTTTTTTTTTTTTTTTT	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77932586	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02895.hp2 HG03831.hp1 HG02293.hp2 HG02895.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0121 a0001c0001t0001g0172 a0001c0001t0001g0074 a0001c0001t0001g0121 a0001c0001t0001g0172	3	314	0.0096	-18	c.123 others(37): Show c.1236+3275_1236+3292delAAGAGAGAGAGAGAGAGA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHTF2_chr7_77793773_77962225	77954612	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	314	0.0032	-18	c.223 others(35): Show c.2236-229_2236-212delTATATATATATATATATA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHYHIPL_chr10_59171643_59252770	59180314	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG02922.hp1 others(3): Show HG02486.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0092 a0001c0001t0005g0199 a0001c0001t0005g0200	6	202	0.0297	-18	c.106 others(35): Show c.106+3386_106+3403delTATATATATATATATATA	PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHYH_chr10_13272799_13305064	13298919	CAAAAATA others(11): Show CAAAAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	438	0.0023	-18	c.76- others(31): Show c.76-692_76-675delATTATTATTATTATTTTT	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding	1/8			chr10	TogoVar
PHYH_chr10_13272799_13305064	13298922	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	438	0.0023	-18	c.76- others(31): Show c.76-695_76-678delATTATTATTATTATTATT	PHYH	ENSG00000107537.14	transcript	ENST00000263038.9	protein_coding	1/8			chr10	TogoVar
PI15_chr8_74819534_74860029	74834860	GCACATTC others(11): Show GCACATTCTCCTGATGATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(109): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18956.hp2 NA18980.hp2 NA18981.hp2 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0005t0027 a0002c0003t0019	a0001c0001t0002g0016 a0001c0001t0002g0055 a0001c0001t0002g0056 others(79): Show a0001c0001t0002g0016 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0005g0066 a0001c0001t0006g0014 a0001c0001t0006g0049 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0007g0007 a0001c0001t0007g0176 a0001c0001t0009g0050 a0001c0001t0009g0194 a0001c0001t0009g0195 a0001c0001t0009g0196 a0001c0001t0012g0054 a0001c0001t0012g0155 a0001c0001t0012g0180 a0001c0001t0012g0181 a0001c0001t0013g0046 a0001c0001t0013g0047 a0001c0001t0013g0152 a0001c0001t0014g0011 a0001c0001t0016g0015 a0001c0001t0016g0154 a0001c0001t0017g0052 a0001c0001t0017g0169 a0001c0001t0017g0170 a0001c0001t0018g0051 a0001c0001t0018g0167 a0001c0001t0019g0068 a0001c0001t0019g0069 a0001c0001t0020g0047 a0001c0001t0020g0153 a0001c0001t0021g0011 a0001c0001t0024g0173 a0001c0001t0024g0174 a0001c0001t0025g0015 a0001c0001t0026g0057 a0001c0001t0026g0058 a0001c0001t0027g0166 a0001c0001t0029g0046 a0001c0001t0033g0065 a0001c0001t0034g0161 a0001c0001t0039g0022 a0001c0001t0040g0168 a0001c0001t0041g0052 a0001c0001t0042g0064 a0001c0001t0043g0067 a0001c0001t0044g0191 a0001c0001t0046g0197 a0001c0001t0047g0054 a0001c0001t0048g0165 a0001c0001t0049g0070 a0001c0005t0027g0164 a0002c0003t0019g0198	112	338	0.3314	-18	c.274 others(35): Show c.274-9093_274-9076delCTGATGATTCACATTCTC	PI15	ENSG00000137558.9	transcript	ENST00000260113.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	2	350	0.0057	-18	c.51 others(29): Show c.5139_*5156delGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PI4K2B_chr4_25229033_25284204	25260627	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02559.hp1 others(2): Show HG01109.hp2 HG02486.hp1 HG02559.hp1 HG02886.hp2 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0040 a0002c0003t0010g0255 a0002c0003t0010g0256 others(1): Show a0002c0003t0010g0040 a0002c0003t0010g0255 a0002c0003t0010g0256 a0002c0003t0010g0257	5	436	0.0115	-18	c.978 others(31): Show c.978+38_978+55delTATATATATATATACACA	PI4K2B	ENSG00000038210.14	transcript	ENST00000264864.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
PI4KA_chr22_20702691_20863811	20770579	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18989.hp2 HG02818.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0183 a0001c0003t0003g0325 a0001c0001t0001g0183 a0001c0003t0003g0325	2	334	0.0060	-18	c.232 others(37): Show c.2329-4904_2329-4887delGTGTGTGTGTGTGTGTGT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	19/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20817734	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0159 a0001c0034t0001g0159	1	334	0.0030	-18	c.856 others(33): Show c.856+731_856+748delTTTTTTTTTTTTTTTTTT	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	7/54			chr22	TogoVar
PI4KA_chr22_20702691_20863811	20824732	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp1 others(9): Show HG01070.hp1 HG01071.hp1 HG01123.hp1 HG02015.hp2 HG02055.hp1 HG02486.hp1 HG03491.hp2 HG03492.hp2 NA18747.hp1 NA18973.hp1 NA18986.hp1 NA19057.hp1	a0001 a0012 a0001 a0012	a0001c0006 a0001c0010 a0012c0029 a0001c0006 a0001c0010 a0012c0029	a0001c0006t0001 a0001c0010t0005 a0012c0029t0001 a0001c0006t0001 a0001c0010t0005 a0012c0029t0001	a0001c0006t0001g0001 a0001c0006t0001g0277 a0001c0006t0001g0279 others(8): Show a0001c0006t0001g0001 a0001c0006t0001g0277 a0001c0006t0001g0279 a0001c0006t0001g0280 a0001c0006t0001g0281 a0001c0006t0001g0282 a0001c0006t0001g0283 a0001c0010t0005g0289 a0001c0010t0005g0290 a0001c0010t0005g0301 a0012c0029t0001g0278	12	334	0.0359	-18	c.368 others(33): Show c.368-336_368-319delTGTGTGTGTGTGTGTGTG	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	3/54			chr22	TogoVar
PIAS1_chr15_68049315_68198847	68129794	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0023 a0001c0005t0023	a0001c0005t0023g0072 a0001c0005t0023g0163 a0001c0005t0023g0072 a0001c0005t0023g0163	2	260	0.0077	-18	c.470 others(37): Show c.470-12127_470-12110delACACACACACACACACAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(43): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01993.hp1 HG02080.hp2 HG02155.hp2 HG02622.hp2 HG02738.hp1 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03831.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18973.hp2 NA18984.hp1 NA18987.hp1 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0005 a0001c0001 a0001c0009 a0002c0005	a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 others(39): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0001t0029 a0001c0001t0056 a0001c0001t0064 a0001c0001t0065 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0157 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0175 a0001c0001t0179 a0001c0001t0181 a0001c0001t0186 a0001c0001t0191 a0001c0001t0192 a0001c0001t0193 a0001c0001t0195 a0001c0001t0196 a0001c0001t0198 a0001c0001t0199 a0001c0001t0202 a0001c0001t0203 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0212 a0001c0001t0213 a0001c0001t0224 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0009t0184 a0002c0005t0171	a0001c0001t0010g0228 a0001c0001t0010g0229 a0001c0001t0011g0079 others(42): Show a0001c0001t0010g0228 a0001c0001t0010g0229 a0001c0001t0011g0079 a0001c0001t0011g0106 a0001c0001t0017g0115 a0001c0001t0017g0122 a0001c0001t0026g0001 a0001c0001t0029g0081 a0001c0001t0056g0083 a0001c0001t0064g0093 a0001c0001t0065g0094 a0001c0001t0082g0114 a0001c0001t0083g0028 a0001c0001t0084g0107 a0001c0001t0157g0111 a0001c0001t0166g0105 a0001c0001t0167g0030 a0001c0001t0168g0008 a0001c0001t0169g0087 a0001c0001t0170g0101 a0001c0001t0175g0084 a0001c0001t0179g0024 a0001c0001t0181g0047 a0001c0001t0186g0049 a0001c0001t0191g0041 a0001c0001t0192g0037 a0001c0001t0193g0036 a0001c0001t0195g0070 a0001c0001t0196g0095 a0001c0001t0198g0061 a0001c0001t0199g0069 a0001c0001t0202g0080 a0001c0001t0203g0078 a0001c0001t0208g0026 a0001c0001t0209g0071 a0001c0001t0210g0314 a0001c0001t0212g0068 a0001c0001t0213g0045 a0001c0001t0224g0016 a0001c0001t0229g0233 a0001c0001t0230g0038 a0001c0001t0231g0088 a0001c0001t0232g0085 a0001c0009t0184g0230 a0002c0005t0171g0031	46	322	0.1429	-18	c.93 others(29): Show c.9371_*9388delTTTTTTTTTTTTTTTTTT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		173		chr18	TogoVar
PIAS2_chr18_46798218_46922507	46862666	TACACACA others(11): Show TACACACATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0146 a0001c0001t0098g0146	1	322	0.0031	-18	c.584 others(35): Show c.584+1480_584+1497delGTGTATATATATGTGTGT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	3/13			chr18	TogoVar
PIBF1_chr13_72777133_73021461	72782890	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0329 a0002c0002t0003g0330 a0002c0002t0003g0329 a0002c0002t0003g0330	2	346	0.0058	-18	c.-47 others(33): Show c.-47-527_-47-510delGTGTGTGTGTGTTTGTGT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72844728	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02572.hp2 HG03239.hp1 HG01516.hp2 HG02572.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0002g0173 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0002g0173	3	346	0.0087	-18	c.122 others(37): Show c.1224-9274_1224-9257delACACACACACACACACAC	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PICALM_chr11_85952175_86074084	85968947	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19054.hp2 NA19064.hp1 others(1): Show NA18970.hp2 NA19054.hp2 NA19064.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0199 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0199 a0001c0001t0001g0223 a0001c0001t0001g0227	4	358	0.0112	-18	c.194 others(37): Show c.1944+5743_1944+5760delGTGTGTGTGTGTGTGTGT	PICALM	ENSG00000073921.18	transcript	ENST00000393346.8	protein_coding	19/19			chr11	TogoVar
PID1_chr2_229018973_229276287	229139097	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG01257.hp1 others(6): Show HG00544.hp2 HG00639.hp2 HG01257.hp1 HG02602.hp2 HG03139.hp1 HG03654.hp2 NA18979.hp1 NA18995.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0021	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0175 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0232 a0001c0001t0002g0008 a0001c0001t0002g0156 a0001c0001t0003g0057 a0001c0002t0021g0195	9	256	0.0352	-18	c.177 others(37): Show c.177+16703_177+16720delCTTTCTTTCTTTCTTTCT	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIERCE2_chr15_55403495_55423798	55407344	TCCCCTGA others(11): Show TCCCCTGAGACGTGTGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01069.hp2 others(49): Show HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp2 NA19240.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0032 others(27): Show a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0003g0031 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130	52	416	0.1250	-18	c.-14 others(29): Show c.-1424_-1407delCCCCTGAGACGTGTGGGA	PIERCE2	ENSG00000261652.3	transcript	ENST00000569691.2	protein_coding		1150		chr15	TogoVar
PIERCE2_chr15_55403495_55423798	55421899	TATAATAA others(11): Show TATAATAATAATAATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	-18	c.33 others(29): Show c.3330_*3347delATAATAATAATAATAATA	PIERCE2	ENSG00000261652.3	transcript	ENST00000569691.2	protein_coding		3102		chr15	TogoVar
PIEZO1_chr16_88710338_88790220	88752769	CCAACGTC others(11): Show CCAACGTCACCCGGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp2 HG02723.hp1 others(4): Show HG01167.hp1 HG02717.hp2 HG02723.hp1 HG02965.hp1 HG03139.hp1 HG06807.hp1 NA18522.hp2	a0009 a0016 a0018 others(2): Show a0009 a0016 a0018 a0075 a0085	a0009c0135 a0016c0013 a0018c0091 others(2): Show a0009c0135 a0016c0013 a0018c0091 a0075c0123 a0085c0075	a0009c0135t0004 a0016c0013t0007 a0018c0091t0001 others(2): Show a0009c0135t0004 a0016c0013t0007 a0018c0091t0001 a0075c0123t0023 a0085c0075t0001	a0009c0135t0004g0270 a0016c0013t0007g0027 a0016c0013t0007g0028 others(4): Show a0009c0135t0004g0270 a0016c0013t0007g0027 a0016c0013t0007g0028 a0016c0013t0007g0029 a0018c0091t0001g0168 a0075c0123t0023g0277 a0085c0075t0001g0274	7	282	0.0248	-18	c.65- others(33): Show c.65-3308_65-3291delCCCTGCCGGGTGACGTTG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIEZO2_chr18_10665247_11154569	10720403	GTATGTGT others(11): Show GTATGTGTATGTGTATGTA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18957.hp2 NA18942.hp1 NA18957.hp2	a0006 a0006	a0006c0026 a0006c0086 a0006c0026 a0006c0086	a0006c0026t0001 a0006c0086t0001 a0006c0026t0001 a0006c0086t0001	a0006c0026t0001g0065 a0006c0086t0001g0009 a0006c0026t0001g0065 a0006c0086t0001g0009	2	158	0.0127	-18	c.503 others(37): Show c.5030-2162_5030-2145delTACATACACATACACATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10720409	GTATGTGT others(11): Show GTATGTGTATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0079 a0019c0030t0001g0079	1	158	0.0063	-18	c.503 others(37): Show c.5030-2168_5030-2151delTATATATACATACACATA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	36/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10795316	ATTTTATT others(11): Show ATTTTATTTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02273.hp2 HG03486.hp2 HG01975.hp2 HG02273.hp2 HG03486.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0044 a0006c0042 a0008c0041 a0001c0044 a0006c0042 a0008c0041	a0001c0044t0002 a0006c0042t0001 a0008c0041t0002 a0001c0044t0002 a0006c0042t0001 a0008c0041t0002	a0001c0044t0002g0073 a0006c0042t0001g0020 a0008c0041t0002g0012 a0001c0044t0002g0073 a0006c0042t0001g0020 a0008c0041t0002g0012	3	158	0.0190	-18	c.152 others(35): Show c.1528-332_1528-315delAAATAAAATAAAATAAAA	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10880846	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02056.hp1 NA18942.hp1 others(1): Show HG00140.hp1 HG02056.hp1 NA18942.hp1 NA19063.hp2	a0006 a0008 a0018 others(1): Show a0006 a0008 a0018 a0020	a0006c0026 a0008c0014 a0018c0029 others(1): Show a0006c0026 a0008c0014 a0018c0029 a0020c0067	a0006c0026t0001 a0008c0014t0002 a0018c0029t0002 others(1): Show a0006c0026t0001 a0008c0014t0002 a0018c0029t0002 a0020c0067t0001	a0006c0026t0001g0065 a0008c0014t0002g0013 a0018c0029t0002g0116 others(1): Show a0006c0026t0001g0065 a0008c0014t0002g0013 a0018c0029t0002g0116 a0020c0067t0001g0051	4	158	0.0253	-18	c.330 others(35): Show c.330-9449_330-9432delATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10970660	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02040.hp1 NA18998.hp1 HG01981.hp2 HG02040.hp1 NA18998.hp1	a0004 a0011 a0016 a0004 a0011 a0016	a0004c0013 a0011c0025 a0016c0027 a0004c0013 a0011c0025 a0016c0027	a0004c0013t0001 a0011c0025t0001 a0016c0027t0002 a0004c0013t0001 a0011c0025t0001 a0016c0027t0002	a0004c0013t0001g0022 a0011c0025t0001g0082 a0016c0027t0002g0048 a0004c0013t0001g0022 a0011c0025t0001g0082 a0016c0027t0002g0048	3	158	0.0190	-18	c.286 others(35): Show c.286+8857_286+8874delTGTGTGTGTGTGTGTGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10991177	CACACACA others(11): Show CACACACACACACATACAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0055 a0001c0017 a0002c0055	a0001c0017t0004 a0002c0055t0002 a0001c0017t0004 a0002c0055t0002	a0001c0017t0004g0142 a0001c0017t0004g0143 a0002c0055t0002g0140 a0001c0017t0004g0142 a0001c0017t0004g0143 a0002c0055t0002g0140	3	158	0.0190	-18	c.161 others(37): Show c.161-11535_161-11518delATGTATGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	11002976	AAGAGGCG others(11): Show AAGAGGCGCTCCTGCTACC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01169.hp2 others(12): Show HG01167.hp1 HG01167.hp2 HG01169.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp1 NA19043.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0015 a0020	a0001c0003 a0001c0017 a0001c0039 others(9): Show a0001c0003 a0001c0017 a0001c0039 a0001c0065 a0002c0001 a0002c0055 a0005c0075 a0007c0004 a0009c0070 a0015c0019 a0015c0060 a0020c0066	a0001c0003t0001 a0001c0017t0004 a0001c0039t0001 others(10): Show a0001c0003t0001 a0001c0017t0004 a0001c0039t0001 a0001c0065t0002 a0002c0001t0001 a0002c0001t0002 a0002c0055t0002 a0005c0075t0002 a0007c0004t0003 a0009c0070t0002 a0015c0019t0001 a0015c0060t0003 a0020c0066t0002	a0001c0003t0001g0118 a0001c0017t0004g0142 a0001c0017t0004g0143 others(12): Show a0001c0003t0001g0118 a0001c0017t0004g0142 a0001c0017t0004g0143 a0001c0039t0001g0004 a0001c0065t0002g0003 a0002c0001t0001g0087 a0002c0001t0002g0151 a0002c0055t0002g0140 a0005c0075t0002g0072 a0007c0004t0003g0149 a0009c0070t0002g0127 a0015c0019t0001g0104 a0015c0019t0001g0105 a0015c0060t0003g0078 a0020c0066t0002g0119	15	158	0.0949	-18	c.161 others(37): Show c.161-23334_161-23317delGGTAGCAGGAGCGCCTCT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	11143625	ACACACAC others(11): Show ACACACACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02258.hp2 HG02717.hp2	a0001 a0020 a0001 a0020	a0001c0002 a0020c0066 a0001c0002 a0020c0066	a0001c0002t0001 a0020c0066t0002 a0001c0002t0001 a0020c0066t0002	a0001c0002t0001g0155 a0020c0066t0002g0119 a0001c0002t0001g0155 a0020c0066t0002g0119	2	158	0.0127	-18	c.64+ others(33): Show c.64+4882_64+4899delAGAGTGTGTGTGTGTGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	1/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	11143633	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0068 a0002c0018t0002g0068	1	158	0.0063	-18	c.64+ others(33): Show c.64+4874_64+4891delAGAGAGAGAGAGTGTGTG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	1/55			chr18	TogoVar
PIF1_chr15_64810632_64830647	64826655	TATATATA others(11): Show TATATATATATACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	348	0.0029	-18	c.-11 others(29): Show c.-1124_-1107delGTGTGTGTATATATATAT	PIF1	ENSG00000140451.13	transcript	ENST00000559239.2	protein_coding		1009		chr15	TogoVar
PIGC_chr1_172436457_172449069	172441352	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02809.hp2 NA18906.hp2 HG02630.hp1 HG02809.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0003 a0001c0001t0001g0013	3	388	0.0077	-18	c.35 others(27): Show c.359_*376delGTGTGTGTGTGTGTGTGT	PIGC	ENSG00000135845.10	transcript	ENST00000344529.5	protein_coding		104		chr1	TogoVar
PIGK_chr1_77083989_77224430	77189694	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02004.hp2 HG02523.hp2 others(2): Show HG01074.hp1 HG02004.hp2 HG02523.hp2 NA18612.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0004 a0001c0001t0002 a0001c0001t0006 a0002c0002t0004	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0006g0031 others(2): Show a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0006g0031 a0001c0001t0006g0054 a0002c0002t0004g0314	5	366	0.0137	-18	c.239 others(37): Show c.239+16928_239+16945delATATATATATATATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGK_chr1_77083989_77224430	77189734	TATATATA others(11): Show TATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	366	0.0027	-18	c.239 others(37): Show c.239+16888_239+16905delGTGTATATATATATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGK_chr1_77083989_77224430	77189738	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0339 a0002c0002t0007g0339	1	366	0.0027	-18	c.239 others(37): Show c.239+16884_239+16901delGTGTGTGTATATATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGK_chr1_77083989_77224430	77189740	TATATATA others(11): Show TATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG02922.hp1 others(4): Show HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0007 a0001c0001t0008 a0002c0002t0007	a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 others(4): Show a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 a0002c0002t0007g0341 a0002c0002t0007g0342 a0002c0002t0007g0346 a0002c0002t0007g0348	7	366	0.0191	-18	c.239 others(37): Show c.239+16882_239+16899delGTGTGTGTGTATATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar
PIGK_chr1_77083989_77224430	77189742	TATATATA others(11): Show TATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	366	0.0027	-18	c.239 others(37): Show c.239+16880_239+16897delGTGTGTGTGTGTATATAT	PIGK	ENSG00000142892.15	transcript	ENST00000370812.8	protein_coding	3/10			chr1	TogoVar

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