Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
PAXBP1_chr21_32728899_32776755	32771875	AGAGAGAG others(67): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(55): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG01074.hp1 HG01106.hp2 HG01261.hp2 HG01358.hp2 HG01934.hp2 HG02055.hp1 HG02148.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18953.hp2 NA18959.hp1 NA18969.hp2 NA18986.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19062.hp2 NA19070.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0003c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0002g0109 a0001c0001t0006g0165 a0001c0002t0001g0063 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0003t0001g0237 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0240 a0003c0011t0001g0111	58	360	0.1611	-74	c.-28 others(83): Show c.-281_-208delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		121		chr21	TogoVar
PCDH15_chr10_53797771_54806231	54307038	GTGTATAT others(67): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0067 a0001c0001t0014g0067	1	102	0.0098	-74	c.876 others(93): Show c.876+10159_876+10232delTATATATACACACACACACATATATA TATATGTATATATATATATATATATATATATATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54307040	GTATATAT others(67): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01934.hp2 others(5): Show HG00735.hp2 HG01175.hp1 HG01934.hp2 HG02027.hp1 HG02622.hp2 HG03486.hp2 NA19088.hp1 NA20129.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0015	a0002c0002 a0003c0003 a0004c0004 others(2): Show a0002c0002 a0003c0003 a0004c0004 a0007c0007 a0015c0013	a0002c0002t0002 a0003c0003t0003 a0003c0003t0006 others(3): Show a0002c0002t0002 a0003c0003t0003 a0003c0003t0006 a0004c0004t0025 a0007c0007t0002 a0015c0013t0003	a0002c0002t0002g0037 a0002c0002t0002g0063 a0003c0003t0003g0056 others(5): Show a0002c0002t0002g0037 a0002c0002t0002g0063 a0003c0003t0003g0056 a0003c0003t0003g0092 a0003c0003t0006g0051 a0004c0004t0025g0032 a0007c0007t0002g0011 a0015c0013t0003g0035	8	102	0.0784	-74	c.876 others(93): Show c.876+10157_876+10230delTATATATATACACACACACACATATA TATATATGTATATATATATATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307038	GTGTATAT others(67): Show GTGTATATATATATATATATATATATATATATATATATATATACATATAT ATATATGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0061 a0010c0010t0003g0061	1	94	0.0106	-74	c.876 others(93): Show c.876+10159_876+10232delTATATATACACACACACACATATATA TATATGTATATATATATATATATATATATATATATATATATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307040	GTATATAT others(67): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG01934.hp2 others(5): Show HG00735.hp2 HG01175.hp2 HG01934.hp2 HG02027.hp1 HG02622.hp1 HG03486.hp2 NA19088.hp1 NA20129.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0008 a0009	a0002c0002 a0002c0006 a0003c0003 others(4): Show a0002c0002 a0002c0006 a0003c0003 a0003c0024 a0004c0004 a0008c0015 a0009c0013	a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 others(4): Show a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0003c0024t0001 a0004c0004t0005 a0008c0015t0001 a0009c0013t0001	a0002c0002t0001g0034 a0002c0006t0001g0059 a0003c0003t0001g0054 others(5): Show a0002c0002t0001g0034 a0002c0006t0001g0059 a0003c0003t0001g0054 a0003c0003t0001g0084 a0003c0024t0001g0049 a0004c0004t0005g0029 a0008c0015t0001g0032 a0009c0013t0001g0011	8	94	0.0851	-74	c.876 others(93): Show c.876+10157_876+10230delTATATATATACACACACACACATATA TATATATGTATATATATATATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCP4L1_chr1_161253745_161290450	161281759	CGGGCAGA others(67): Show CGGGCAGAGGCGCTCCTCACATCCCGGACGGGGCGGCGGGGCAGAGGCGC TCCTCACATCCCGGACGGGGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(219): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0004 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(175): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0254 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0103 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0003g0007 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0112 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0195 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0286 a0001c0001t0003g0313 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0009g0002 a0001c0002t0004g0004 a0001c0002t0004g0022 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0115 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0166 a0002c0003t0001g0028	222	402	0.5522	-74	c.10- others(89): Show c.10-1893_10-1820delTCACATCCCGGACGGGGCGGCGGGGCAGAG GCGCTCCTCACATCCCGGACGGGGCGGCGGGGCAGAGGCGCTCC	PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK6_chr15_101298933_101494707	101311811	CCCCTCAC others(67): Show CCCCTCACAGCCCACCCCATGGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp2 NA19240.hp2 HG01891.hp1 HG03139.hp2 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0006 a0002c0008 a0006c0021 a0001c0006 a0002c0008 a0006c0021	a0001c0006t0002 a0002c0008t0002 a0006c0021t0002 a0001c0006t0002 a0002c0008t0002 a0006c0021t0002	a0001c0006t0002g0039 a0002c0008t0002g0027 a0006c0021t0002g0002 a0001c0006t0002g0039 a0002c0008t0002g0027 a0006c0021t0002g0002	3	336	0.0089	-74	c.269 others(93): Show c.2699+1491_2699+1564delTGACGATGGGGTGGGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGGTGACCATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE6B_chr4_620573_675782	668886	TGCTATTC others(67): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTA CCCCATGCTGCTCCCACTACCCCAC	T T	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	-74	c.250 others(92): Show c.2503+939_2503+1012delGCTCCCACTACCCCACGCTATTCCCCT ACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	669053	TGCTATTC others(67): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTA CCCCATGCTGCTCCCACTACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(60): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG01975.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0013	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0025 a0001c0029 a0002c0003 a0005c0011 a0006c0013 a0013c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0001c0025t0001 a0001c0029t0001 a0002c0003t0005 a0005c0011t0001 a0006c0013t0010 a0013c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 others(57): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0004g0065 a0001c0001t0004g0087 a0001c0001t0005g0167 a0001c0001t0005g0265 a0001c0001t0006g0045 a0001c0001t0012g0027 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0004g0011 a0001c0002t0004g0029 a0001c0002t0004g0059 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0005t0001g0223 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0017t0004g0030 a0001c0025t0001g0005 a0001c0029t0001g0026 a0002c0003t0005g0268 a0002c0003t0005g0269 a0002c0003t0005g0270 a0002c0003t0005g0271 a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0276 a0002c0003t0005g0277 a0005c0011t0001g0266 a0005c0011t0001g0267 a0006c0013t0010g0041 a0006c0013t0010g0042 a0013c0019t0001g0061	63	308	0.2046	-74	c.250 others(91): Show c.2504-934_2504-861delGCTCCCACTACCCCACGCTATTCCCCTA CCCCATGCTGCTCCCACTACCCCACGCTATTCCCCTACCCCATGCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	669123	CCCACGCT others(67): Show CCCACGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCACGCTATTCC CCTACCCCATGCTATTCCCGCTATG	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	-74	c.250 others(91): Show c.2504-919_2504-846delCGCTATTCCCCTACCCCATGCTGCTCCC ACTACCCCACGCTATTCCCCTACCCCATGCTATTCCCGCTATGCCA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDZD2_chr5_31634131_32115932	32041046	AGCCGCCC others(67): Show AGCCGCCCCGTCTGGGAAGTGGGGAGCGCCTCTGTCCGGCCGCCCCATCT AGGAAGCGGGGAGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA21309.hp1 HG02717.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0007 a0010c0023 a0001c0007 a0010c0023	a0001c0007t0009 a0010c0023t0029 a0001c0007t0009 a0010c0023t0029	a0001c0007t0009g0172 a0010c0023t0029g0141 a0001c0007t0009g0172 a0010c0023t0029g0141	2	216	0.0093	-74	c.151 others(93): Show c.1519+3738_1519+3811delTCCGGCCGCCCCATCTAGGAAGCGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAAGTGGGGAGCGCCTCTG	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEX5_chr12_7184686_7216459	7197027	TTATATAT others(67): Show TTATATATGTCACATATAATGTAATTATATATGTCACATATAATGTAATT ATATATGTCACATATAATGTAATTA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(4): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0226 a0001c0001t0008g0004 a0001c0001t0008g0226	7	428	0.0164	-74	c.449 others(91): Show c.449-1978_449-1905delATGTCACATATAATGTAATTATATATGT CACATATAATGTAATTATATATGTCACATATAATGTAATTATATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(67): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0328 a0001c0002t0008g0328	1	350	0.0029	-74	c.51 others(85): Show c.5139_*5212delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIGQ_chr16_564968_589109	571106	TGTCTGGC others(67): Show TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCCGTGGCTAGCCTGGCGCCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0242 a0001c0004t0006g0242	1	408	0.0025	-74	c.-10 others(91): Show c.-10+1013_-10+1086delCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314965	AGGAAGGA others(67): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01109.hp1 others(7): Show HG00423.hp2 HG00621.hp2 HG01109.hp1 HG02083.hp1 HG03017.hp1 NA18949.hp2 NA18954.hp1 NA18969.hp1 NA19088.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0016	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0003c0021 a0016c0024	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0003c0021t0001 a0016c0024t0001	a0001c0001t0001g0194 a0002c0003t0001g0106 a0002c0003t0001g0176 others(7): Show a0001c0001t0001g0194 a0002c0003t0001g0106 a0002c0003t0001g0176 a0003c0004t0001g0201 a0003c0004t0001g0255 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0260 a0003c0021t0001g0128 a0016c0024t0001g0234	10	306	0.0327	-74	c.349 others(93): Show c.349+14172_349+14245delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLEKHA4_chr19_48832097_48873617	48834509	TGAGGAAG others(67): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01975.hp1 HG04228.hp2 others(6): Show HG01081.hp1 HG01975.hp1 HG04228.hp2 NA18906.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA19004.hp2 NA19065.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0015 a0001c0001 a0002c0002 a0018c0015	a0001c0001t0001 a0002c0002t0002 a0018c0015t0002 a0001c0001t0001 a0002c0002t0002 a0018c0015t0002	a0001c0001t0001g0160 a0001c0001t0001g0201 a0001c0001t0001g0204 others(6): Show a0001c0001t0001g0160 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0225 a0002c0002t0002g0065 a0002c0002t0002g0082 a0018c0015t0002g0018	9	300	0.0300	-74	c.27 others(85): Show c.2706_*2779delGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2587		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834704	AGGGCTGG others(67): Show AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	300	0.0033	-74	c.25 others(85): Show c.2511_*2584delCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2392		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835228	AGCCTGGA others(67): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGATGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG02135.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0002c0002t0019	a0001c0001t0001g0157 a0001c0001t0007g0266 a0002c0002t0002g0007 others(1): Show a0001c0001t0001g0157 a0001c0001t0007g0266 a0002c0002t0002g0007 a0002c0002t0019g0239	5	300	0.0167	-74	c.19 others(85): Show c.1987_*2060delCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1868		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835265	GGCCTGGA others(67): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00639.hp2 others(32): Show HG00099.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp1 HG01361.hp2 HG01943.hp1 HG02040.hp2 HG02258.hp1 HG02523.hp2 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18954.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18980.hp1 NA18999.hp2 NA19074.hp2 NA19081.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0024 a0001c0001 a0002c0002 a0002c0024	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0014 a0002c0024t0002	a0001c0001t0001g0003 a0001c0001t0001g0125 a0001c0001t0001g0136 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0185 a0002c0002t0002g0006 a0002c0002t0002g0024 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0097 a0002c0002t0012g0017 a0002c0002t0014g0098 a0002c0024t0002g0028	35	300	0.1167	-74	c.19 others(85): Show c.1950_*2023delTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1831		chr19	TogoVar
PLEKHG7_chr12_92697989_92777455	92727987	CACACACC others(67): Show CACACACCACATTCCATGGTGTATATATAAATATATATACACACCACATT CCATGGTGTATATATAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18939.hp2 NA18949.hp2 others(4): Show HG02922.hp1 NA18939.hp2 NA18949.hp2 NA18964.hp2 NA19054.hp2 NA19062.hp2 NA19068.hp2	a0002 a0002	a0002c0003 a0002c0011 a0002c0022 a0002c0003 a0002c0011 a0002c0022	a0002c0003t0004 a0002c0011t0005 a0002c0022t0004 a0002c0003t0004 a0002c0011t0005 a0002c0022t0004	a0002c0003t0004g0006 a0002c0003t0004g0124 a0002c0003t0004g0127 others(3): Show a0002c0003t0004g0006 a0002c0003t0004g0124 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0011t0005g0018 a0002c0022t0004g0129	7	252	0.0278	-74	c.531 others(89): Show c.531-615_531-542delTATATATAAATATATATACACACCACATTC CATGGTGTATATATAAATATATATACACACCACATTCCATGGTG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLGRKT_chr9_5352971_5442925	5434679	CGTCTGGG others(67): Show CGTCTGGGAAGTGAGGTGTGCCTCTGCCTGGCCGCTCCGTCTGGGAAGTG AGGAGCGCCTCTGCCCGGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	414	0.0024	-74	c.-7+ others(89): Show c.-7+1816_-7+1889delAGGGCGGCCGGGCAGAGGCGCTCCTCACTT CCCAGACGGAGCGGCCAGGCAGAGGCACACCTCACTTCCCAGAC	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	2/5			chr9	TogoVar
PLPP1_chr5_55419854_55539964	55512478	AAAAAAGA others(67): Show AAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	294	0.0034	-74	c.58+ others(91): Show c.58+22020_58+22093delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5			chr5	TogoVar
PLXDC2_chr10_19811432_20294856	20126370	CATATATA others(67): Show CATATATACATATGTGTTATATAATACATATATGTATATACAACACACGT TATATATGTATATACAACACACGTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02300.hp1 HG01109.hp1 HG02300.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0118 a0003c0003t0105 a0001c0005t0118 a0003c0003t0105	a0001c0005t0118g0048 a0003c0003t0105g0087 a0001c0005t0118g0048 a0003c0003t0105g0087	2	180	0.0111	-74	c.542 others(93): Show c.542-16918_542-16845delACATATGTGTTATATAATACATATAT GTATATACAACACACGTTATATATGTATATACAACACACGTTATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46467948	TCAAAGAC others(67): Show TCAAAGACTTTGAGGTCTAGGCAGACATTCTTTTTCCCTAAAACTAACTC TTGGGACCTCCTGGCTAGATAACTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0073 a0001c0001t0042g0073	1	454	0.0022	-74	c.53 others(83): Show c.539_*612delCAGTTATCTAGCCAGGAGGTCCCAAGAGTTAGTTTT AGGGAAAAAGAATGTCTGCCTAGACCTCAAAGTCTTTG	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding	3/3	539		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137507665	GTCTCAAA others(67): Show GTCTCAAAATAAATAAATAAAATAAAATACGGGGGCCAGGCATGGTGGTA TGCACCTGACAAGAGCAAAACTCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG02155.hp1 others(9): Show HG01106.hp2 HG01109.hp1 HG02155.hp1 HG02280.hp2 HG02723.hp2 HG03017.hp1 HG03098.hp1 HG03540.hp1 HG03704.hp1 HG04115.hp2 NA18940.hp2 NA18944.hp1	a0003 a0013 a0014 others(2): Show a0003 a0013 a0014 a0020 a0022	a0003c0008 a0003c0022 a0003c0026 others(4): Show a0003c0008 a0003c0022 a0003c0026 a0013c0023 a0014c0020 a0020c0055 a0022c0053	a0003c0008t0001 a0003c0022t0001 a0003c0026t0001 others(4): Show a0003c0008t0001 a0003c0022t0001 a0003c0026t0001 a0013c0023t0001 a0014c0020t0001 a0020c0055t0001 a0022c0053t0001	a0003c0008t0001g0014 a0003c0008t0001g0087 a0003c0008t0001g0091 others(9): Show a0003c0008t0001g0014 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0008t0001g0159 a0003c0022t0001g0088 a0003c0022t0001g0185 a0003c0026t0001g0012 a0013c0023t0001g0178 a0014c0020t0001g0020 a0014c0020t0001g0022 a0020c0055t0001g0177 a0022c0053t0001g0154	12	188	0.0638	-74	c.122 others(93): Show c.1226-1656_1226-1583delTGGAGTTTTGCTCTTGTCAGGTGCAT ACCACCATGCCTGGCCCCCGTATTTTATTTTATTTATTTATTTTGAGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
POTEG_chr14_19397486_19439341	19432403	TACACACA others(67): Show TACACACACATGTATATATATGTATATACGTATATATATATATACATATA TATATACATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02647.hp2 HG03704.hp2 others(1): Show HG01192.hp2 HG02647.hp2 HG03704.hp2 NA18988.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0010 a0004c0004 a0007c0010	a0004c0004t0005 a0004c0004t0007 a0007c0010t0009 a0004c0004t0005 a0004c0004t0007 a0007c0010t0009	a0004c0004t0005g0011 a0004c0004t0007g0010 a0004c0004t0007g0012 others(1): Show a0004c0004t0005g0011 a0004c0004t0007g0010 a0004c0004t0007g0012 a0007c0010t0009g0018	4	111	0.0360	-74	c.521 others(91): Show c.521+1292_521+1365delGTATATATATGTATATATGTATATATAT ATGTATATATATATATACGTATATACATATATATACATGTGTGTGT	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding	1/10			chr14	TogoVar
POU6F2_chr7_38972909_39473601	39419093	GTATATAT others(67): Show GTATATATACACATATATACGTATATATGTGTATATATACACATATATAT ACGTATATATGTGTATATATACACA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03098.hp2 NA21309.hp1 HG03017.hp2 HG03098.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0014 a0001c0002t0015 a0002c0008t0030 a0001c0002t0014 a0001c0002t0015 a0002c0008t0030	a0001c0002t0014g0036 a0001c0002t0015g0148 a0002c0008t0030g0051 a0001c0002t0014g0036 a0001c0002t0015g0148 a0002c0008t0030g0051	3	170	0.0177	-74	c.111 others(95): Show c.1113+12363_1113+12436delACATATATACGTATATATGTGTAT ATATACACATATATATACGTATATATGTGTATATATACACATATATATAC	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPARG_chr3_12284070_12439344	12428890	GAATACAT others(67): Show GAATACATCTTACAATTTTTGAATTAGAATCTTTGAGATTATCTATTTAG TCCGGTCTGTTTTGTTTAGACAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp1 HG02004.hp2 others(1): Show HG01243.hp1 HG01978.hp1 HG02004.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006	4	294	0.0136	-74	c.118 others(93): Show c.1181-5005_1181-4932delTACATCTTACAATTTTTGAATTAGAA TCTTTGAGATTATCTATTTAGTCCGGTCTGTTTTGTTTAGACAAGAAA	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150210186	TGCTTGCA others(67): Show TGCTTGCAAGTTGGGGCAAGGGGGCTGGTGATGGCCAAGCCTACACTGTG TGTTGGTTTGTGAGGTGTCTTCAGA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	312	0.0032	-74	c.307 others(91): Show c.307-4555_307-4482delTTGCAAGTTGGGGCAAGGGGGCTGGTGA TGGCCAAGCCTACACTGTGTGTTGGTTTGTGAGGTGTCTTCAGAGC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2CB_chr8_30780616_30817818	30791868	ATATGTGT others(67): Show ATATGTGTGTGCATATATGTATACATGTGTATATACATGTGTATATACAT ACACGTATATATGTATGTATACATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	304	0.0033	-74	c.739 others(89): Show c.739-627_739-554delCATGTATACATACATATATACGTGTATGTA TATACACATGTATATACACATGTATACATATATGCACACACATA	PPP2CB	ENSG00000104695.13	transcript	ENST00000221138.9	protein_coding	5/6			chr8	TogoVar
PPP2R2D_chr10_131896008_131964834	131939494	CGGCAGAC others(67): Show CGGCAGACCTGCTCCAGAAAACACGGCAGGCTGCATTCGGCAGACCTGCT CCAGAAAATACGGCAGGCTGTATTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	394	0.0025	-74	c.199 others(89): Show c.199-519_199-446delAAACACGGCAGGCTGCATTCGGCAGACCTG CTCCAGAAAATACGGCAGGCTGTATTTGGCAGACCTGCTCCAGA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R2D_chr10_131896008_131964834	131952169	GGTGTGCA others(67): Show GGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGCGGGTGTGCGGGG GGGTTCACTGTCTTAGCAGTGACTT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19090.hp2 HG03098.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0116 a0001c0001t0006g0083 a0001c0001t0006g0116	2	394	0.0051	-74	c.108 others(93): Show c.1083-3513_1083-3440delTGTGCAGGGGGTTTCACTGTCTTAGC AGTGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTG	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3B_chrX_328933_391907	368190	GGGGGAAG others(67): Show GGGGGAAGGCCGGGATCACCCACCCCGGGCACTGACGGGGGGAAGGCCGG GACCACCCACCCCGGGCACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02965.hp1 HG02630.hp2 HG02965.hp1	a0003 a0004 a0003 a0004	a0003c0013 a0004c0012 a0003c0013 a0004c0012	a0003c0013t0006 a0004c0012t0010 a0003c0013t0006 a0004c0012t0010	a0003c0013t0006g0025 a0004c0012t0010g0024 a0003c0013t0006g0025 a0004c0012t0010g0024	2	25	0.0800	-74	c.325 others(91): Show c.325-6674_325-6601delGTGTCTGTGCCCGGGGTGGGTGGTCCCG GCCTTCCCCCCGTCAGTGCCCGGGGTGGGTGATCCCGGCCTTCCCC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM15_chr21_41793225_41884344	41806436	CCACCATC others(67): Show CCACCATCACCACCACCCATCACCATCACCACCAGCACCACCCATTACTA CCACCACCATCACCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0298 a0001c0003t0001g0298	1	406	0.0025	-74	c.265 others(93): Show c.2653-1896_2653-1823delATGGTGATGGTGGTGATGGTGGTGGT AGTAATGGGTGGTGCTGGTGGTGATGGTGATGGGTGGTGGTGATGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRKG1_chr10_51069487_52303350	51858053	AATATATA others(67): Show AATATATATGCATATTATACATATATATAATATATATTATATATATACAT ATTATACATATATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	64	0.0156	-74	c.699 others(93): Show c.699-49445_699-49372delGCATATTATACATATATATAATATAT ATTATATATATACATATTATACATATATATAATATATATTATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133973	TTCCCTCT others(67): Show TTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTCTCTCCACCTTCCCTC TCTCCACCTCCCCTCTCCCCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0028 a0001c0007t0001g0028	1	227	0.0044	-74	c.25 others(85): Show c.2542_*2615delTCCCTCTCTCCTCCCCTCTCCCCCTCCCTCCCTC TCTCCACCTTCCCTCTCTCCACCTCCCCTCTCCCCCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2261		chr19	TogoVar
PTGFR_chr1_78485974_78545701	78532396	ATGTATAT others(67): Show ATGTATATATGTGTATATATATGTGTGTATATATGTGTATATATTTGTGT GTGTATATGTGTATATATTTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	386	0.0026	-74	c.799 others(91): Show c.799-3996_799-3923delATATATATGTGTGTATATATGTGTATAT ATTTGTGTGTGTATATGTGTATATATTTGTGTGTGTATATATGTGT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTH2_chr19_49417419_49428441	49427646	GGGAGGGG others(67): Show GGGAGGGGCTGGGGGCCTGGACTCCTGGGTCCGAGGGAGGAGGGGCTGGG GGCCTGGACTCCTGGGTGCGAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG06807.hp1 HG02572.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	444	0.0045	-74	c.-43 others(85): Show c.-4381_-4308delTCCCTCGCACCCAGGAGTCCAGGCCCCCAGCCCC TCCTCCCTCGGACCCAGGAGTCCAGGCCCCCAGCCCCTCC	PTH2	ENSG00000142538.2	transcript	ENST00000270631.2	protein_coding		4206		chr19	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(67): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0071 a0001c0001t0154g0071	1	354	0.0028	-74	c.66 others(83): Show c.667_*740delATATATATATATATATATATATATATATATATATAT ATATATATAATATAATATATATATATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	667		chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141437096	ATGGGGAG others(67): Show ATGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTG GGTCCCGGCCTGGCCCTGCCCGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(79): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18990.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(74): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0002g0143 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0233 a0001c0001t0004g0293 a0001c0001t0005g0003 a0001c0001t0005g0114 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0262 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0179 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0007g0067 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0010g0157 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0012g0214 a0001c0001t0013g0204 a0001c0001t0013g0205 a0001c0001t0022g0153 a0001c0001t0028g0053 a0001c0001t0029g0050 a0001c0001t0030g0140 a0002c0003t0001g0238	82	323	0.2539	-74	c.60 others(85): Show c.6053_*6126delTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCG CCGTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4643		chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141437225	CGGCCTGG others(67): Show CGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCCGGCCTGGCCCTG CCCGCCGTGGGGAGCTGTGGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02559.hp2 HG02004.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0096 a0001c0001t0001g0059 a0001c0001t0002g0096	2	323	0.0062	-74	c.61 others(85): Show c.6182_*6255delGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGT CCCGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCT	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4772		chr8	TogoVar
PTPN2_chr18_12787152_12889237	12870273	GTATATAT others(67): Show GTATATATATACATATACATATATATGTGTATATATACATATATATGTGT ATATATATGTATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	370	0.0027	-74	c.70- others(91): Show c.70-11093_70-11020delTATATGTATATATATACATATATATACA CATATATATGTATATATACACATATATATGTATATGTATATATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12870289	ACATATAT others(67): Show ACATATATATGTGTATATATACATATATATGTGTATATATATGTATATAT ATACATATATATGTGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04115.hp1 HG04228.hp1 others(1): Show HG01243.hp1 HG04115.hp1 HG04228.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0001 a0001c0001t0004 a0001c0001t0020	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0004g0153 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0004g0153 a0001c0001t0020g0165	4	370	0.0108	-74	c.70- others(91): Show c.70-11109_70-11036delCATATATATACACATATATATGTATATA TATACATATATATACACATATATATGTATATATACACATATATATG	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12870342	CATATATA others(67): Show CATATATATGTGTATATATATGTGTATATATACATATATATACGTATATA TGTATATATACACGTATATATATGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	370	0.0027	-74	c.70- others(91): Show c.70-11162_70-11089delACATATATATACGTGTATATATACATAT ATACGTATATATATGTATATATACACATATATATACACATATATAT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPRD_chr9_8309246_10618002	8660203	TCTTACAC others(67): Show TCTTACACAGGCACATATCCTATAGAAGAATCAATAATCTAAGCTAAGCA ATAATAGCCATACACGTAACAGGGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	34	0.0294	-74	c.65- others(91): Show c.65-23433_65-23360delTCCCTGTTACGTGTATGGCTATTATTGC TTAGCTTAGATTATTGATTCTTCTATAGGATATGTGCCTGTGTAAG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61588432	AGTGATGT others(67): Show AGTGATGTTGGCTCACTGCAACCTCCACCTCTTGAGTTCAGGCAATTCTC ATGCCTCAGCCTCTGGAGCAGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG02647.hp1 others(2): Show HG00738.hp1 HG01071.hp1 HG02647.hp1 HG03453.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0002c0002t0002 a0002c0003t0002 a0001c0001t0002 a0002c0002t0002 a0002c0003t0002	a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 others(2): Show a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0002c0002t0002g0021 a0002c0003t0002g0061	5	94	0.0532	-74	c.85+ others(91): Show c.85+26091_85+26164delTTGAGTTCAGGCAATTCTCATGCCTCAG CCTCTGGAGCAGTGATGTGATGTTGGCTCACTGCAACCTCCACCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRO_chr12_15317508_15603331	15513084	GAAAGAAA others(67): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0011 a0001c0002t0004 a0001c0002t0011	a0001c0002t0004g0056 a0001c0002t0011g0082 a0001c0002t0004g0056 a0001c0002t0011g0082	2	164	0.0122	-74	c.146 others(93): Show c.1465-2411_1465-2338delAGAAAGAAGAAAGAAAGAAAGAAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PUS1_chr12_131924276_131950896	131925310	AGCTCCGC others(67): Show AGCTCCGCCTCCCGGGTTCACGCCAGTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGGGCCTGCCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	382	0.0026	-74	c.-44 others(85): Show c.-4412_-4339delGCTCCGCCTCCCGGGTTCACGCCAGTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGGGCCTGCCACC	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding		3965		chr12	TogoVar
PXDNL_chr8_51314577_51814445	51534860	CGCCTGGC others(67): Show CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTAGGAAGTGAGGACCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01167.hp1 others(18): Show HG00438.hp1 HG00673.hp1 HG01167.hp1 HG01169.hp1 HG02257.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18747.hp1 NA18948.hp2 NA18979.hp1 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(6): Show a0001 a0003 a0009 a0011 a0016 a0019 a0024 a0025 a0026	a0001c0001 a0003c0003 a0003c0005 others(7): Show a0001c0001 a0003c0003 a0003c0005 a0009c0012 a0011c0017 a0016c0010 a0019c0047 a0024c0026 a0025c0034 a0026c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0003c0003t0002 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0011c0017t0001 a0016c0010t0002 a0019c0047t0001 a0024c0026t0003 a0025c0034t0002 a0026c0043t0003	a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 others(18): Show a0001c0001t0001g0019 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0003t0001g0051 a0003c0003t0001g0079 a0003c0003t0002g0107 a0003c0005t0001g0041 a0003c0005t0001g0070 a0003c0005t0003g0006 a0009c0012t0001g0038 a0011c0017t0001g0054 a0011c0017t0001g0075 a0016c0010t0002g0094 a0016c0010t0002g0108 a0019c0047t0001g0074 a0024c0026t0003g0002 a0025c0034t0002g0122 a0026c0043t0003g0005	21	122	0.1721	-74	c.380 others(93): Show c.380+21906_380+21979delAGAGGGGTCCTCACTTCCTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599750	TATCGTTT others(67): Show TATCGTTTATATAATAAATTATATCTTATATAAATGATATCGTTTAGATA ATAAATTATACCTTATATAAATGAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	122	0.0082	-74	c.237 others(91): Show c.237-7126_237-7053delGTCATTTATATAAGGTATAATTTATTAT CTAAACGATATCATTTATATAAGATATAATTTATTATATAAACGAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar

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