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
PSMA5_chr1_109394042_109431448	109426386	CCACCGGC others(8): Show CCACCGGCACCCAACT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0179 a0001c0001t0029g0179	1	318	0.0031	-15	c.-71 others(22): Show c.-71_-57delAGTTGGGTGCCGGTG	PSMA5	ENSG00000143106.13	transcript	ENST00000271308.9	protein_coding	1/9	57		chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628593	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00741.hp2 others(8): Show HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01256.hp2 HG01516.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0158 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0003g0005 a0001c0001t0003g0152 a0001c0001t0003g0189 a0001c0001t0003g0239 a0001c0001t0003g0241	11	300	0.0367	-15	c.285 others(32): Show c.285+2666_285+2680delATATATATATATTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628595	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	300	0.0033	-15	c.285 others(32): Show c.285+2664_285+2678delATATATATATATATT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640052	GTACTATA others(8): Show GTACTATAATATACTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02922.hp2 others(1): Show HG01891.hp2 HG02055.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0014 a0001c0001t0009g0016 a0001c0001t0009g0017 others(1): Show a0001c0001t0009g0014 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0011g0015	4	300	0.0133	-15	c.91+ others(30): Show c.91+1275_91+1289delTAGTATATTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0125 a0001c0001t0006g0125	1	300	0.0033	-15	c.-79 others(24): Show c.-797_-783delTTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMC2_chr7_103342643_103374395	103352215	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	382	0.0026	-15	c.71- others(30): Show c.71-1689_71-1675delAAAAAAAAAAAAAAA	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PSMD1_chr2_231051867_231177827	231143187	GGGTTTGG others(8): Show GGGTTTGGTTTGGTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(115): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0002 a0002c0003t0002 a0004c0005t0002	a0001c0001t0001g0008 a0001c0001t0001g0200 a0001c0001t0001g0206 others(113): Show a0001c0001t0001g0008 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0345 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0007t0002g0106 a0002c0003t0002g0079 a0004c0005t0002g0009	118	364	0.3242	-15	c.199 others(34): Show c.1999-3007_1999-2993delGGTTTGGTTTGGTTT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD2_chr3_184294241_184314050	184296561	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG02572.hp1 others(5): Show HG01071.hp2 HG01109.hp1 HG02572.hp1 HG03098.hp2 HG04199.hp2 NA18961.hp2 NA18978.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0031	8	414	0.0193	-15	c.-27 others(26): Show c.-2705_-2691delAAAAAAAAAAAAAAA	PSMD2	ENSG00000175166.17	transcript	ENST00000310118.9	protein_coding		2679		chr3	TogoVar
PSMD4_chr1_151249734_151272479	151253953	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	420	0.0024	-15	c.-82 others(24): Show c.-829_-815delAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		780		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121912915	CCTTTGCT others(8): Show CCTTTGCTCATTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	398	0.0025	-15	c.556 others(32): Show c.556-2940_556-2926delCTTTGCTCATTTTCT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5			chr12	TogoVar
PSME3IP1_chr16_57147466_57191039	57157569	TTTTTACT others(8): Show TTTTTACTCCACATTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	364	0.0028	-15	c.548 others(32): Show c.548-3077_548-3063delGAATGTGGAGTAAAA	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding	6/6			chr16	TogoVar
PSME4_chr2_53859069_53975993	53872741	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03209.hp1 others(1): Show HG02559.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0012 a0001c0007t0006g0014 a0001c0007t0006g0196 others(1): Show a0001c0007t0006g0012 a0001c0007t0006g0014 a0001c0007t0006g0196 a0001c0007t0006g0197	4	384	0.0104	-15	c.510 others(34): Show c.5100+1583_5100+1597delTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53927038	AAAATCTT others(8): Show AAAATCTTTCTTCATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0192 a0003c0004t0001g0245	2	384	0.0052	-15	c.159 others(32): Show c.1593+341_1593+355delAATGAAGAAAGATTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	12/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53967649	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0013 a0015c0028t0001g0013	1	384	0.0026	-15	c.242 others(32): Show c.242+2879_242+2893delTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1147164	TCATCATC others(8): Show TCATCATCATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG01258.hp2 others(20): Show HG00099.hp1 HG01257.hp2 HG01258.hp2 HG01891.hp2 HG01952.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp2 HG02559.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03195.hp1 HG06807.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0020 a0001c0001t0025 a0001c0001t0029 a0001c0001t0062	a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0224 others(19): Show a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0003g0194 a0001c0001t0006g0015 a0001c0001t0006g0033 a0001c0001t0006g0192 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0202 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0020g0030 a0001c0001t0020g0034 a0001c0001t0020g0035 a0001c0001t0025g0026 a0001c0001t0025g0027 a0001c0001t0029g0028 a0001c0001t0029g0029 a0001c0001t0062g0036	23	326	0.0706	-15	c.551 others(34): Show c.551+11861_551+11875delTCATCATCATCACCA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSPH_chr7_56006064_56056444	56029978	CAAAAAAA others(8): Show CAAAAAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0003 a0001c0001t0003 a0003c0006t0003	a0001c0001t0003g0328 a0003c0006t0003g0357 a0001c0001t0003g0328 a0003c0006t0003g0357	2	392	0.0051	-15	c.-20 others(32): Show c.-20+1936_-20+1950delTCTTTTTTTTTTTTT	PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	3/7			chr7	TogoVar
PSPH_chr7_56006064_56056444	56030335	CCTGACCT others(8): Show CCTGACCTCAGGAGTT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18947.hp2 NA18953.hp2 others(17): Show NA18944.hp1 NA18947.hp2 NA18953.hp2 NA18957.hp1 NA18965.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18998.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0052 a0001c0001t0001g0185 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0052 a0001c0001t0001g0185 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0008g0254 a0001c0001t0008g0266	20	392	0.0510	-15	c.-20 others(32): Show c.-20+1579_-20+1593delAACTCCTGAGGTCAG	PSPH	ENSG00000146733.14	transcript	ENST00000275605.8	protein_coding	3/7			chr7	TogoVar
PSTK_chr10_122975401_122995390	122980723	CGCGGGGC others(8): Show CGCGGGGCGGGGCGGG	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	416	0.0024	-15	c.216 others(28): Show c.216+50_216+64delCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP1_chr19_792452_817312	814955	CAGGACGT others(8): Show CAGGACGTGCCCAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0005 a0006c0026t0005	a0006c0026t0005g0063 a0006c0026t0005g0063	1	388	0.0026	-15	c.41 others(26): Show c.4130_*4144delAGGACGTGCCCAGGA	PTBP1	ENSG00000011304.22	transcript	ENST00000356948.11	protein_coding		2644		chr19	TogoVar
PTBP3_chr9_112213435_112338619	112231912	AAGAAGAG others(8): Show AAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18949.hp1 HG00323.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0042 a0001c0001t0004g0047	2	342	0.0059	-15	c.102 others(32): Show c.1020+172_1020+186delCTTCTCTTCTCTTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112231957	GAGAAGAG others(8): Show GAGAAGAGAAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02976.hp1 HG03831.hp2 others(5): Show HG02129.hp1 HG02976.hp1 HG03831.hp2 NA18612.hp1 NA18981.hp2 NA18984.hp2 NA18991.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0007t0001	a0001c0001t0002g0128 a0001c0001t0004g0020 a0001c0001t0004g0026 others(5): Show a0001c0001t0002g0128 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0021g0027 a0001c0007t0001g0239	8	342	0.0234	-15	c.102 others(32): Show c.1020+127_1020+141delTCTCTCTTCTCTTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112231962	GAGAAGAG others(8): Show GAGAAGAGAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02071.hp1 HG02083.hp2 others(15): Show HG01123.hp1 HG02071.hp1 HG02083.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 NA18947.hp2 NA18949.hp2 NA18956.hp2 NA18959.hp1 NA18969.hp2 NA18974.hp2 NA19000.hp2 NA19003.hp1 NA19064.hp2 NA19075.hp1 NA19083.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0019 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0035 a0003c0003t0002	a0001c0001t0002g0105 a0001c0001t0002g0132 a0001c0001t0002g0163 others(15): Show a0001c0001t0002g0105 a0001c0001t0002g0132 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0274 a0001c0001t0019g0136 a0001c0001t0035g0130 a0003c0003t0002g0106	18	342	0.0526	-15	c.102 others(32): Show c.1020+122_1020+136delTCTCTTCTCTCTTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112277882	GTAACATA others(8): Show GTAACATAACATAACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01168.hp1 others(42): Show HG00280.hp1 HG00673.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18945.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA19030.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0011	a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0138 others(42): Show a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0332 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0235 a0001c0001t0002g0257 a0001c0001t0002g0275 a0001c0001t0003g0059 a0001c0001t0003g0076 a0001c0001t0003g0083 a0001c0001t0003g0114 a0001c0001t0003g0144 a0001c0001t0003g0334 a0001c0001t0006g0112 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0008g0241 a0001c0001t0008g0276 a0001c0001t0009g0258 a0001c0001t0009g0291 a0001c0001t0014g0071 a0001c0001t0028g0277 a0001c0001t0030g0216 a0001c0002t0001g0266 a0001c0002t0011g0188 a0001c0002t0011g0299	45	342	0.1316	-15	c.35- others(30): Show c.35-1884_35-1870delTGTTATGTTATGTTA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112277931	CATAACAT others(8): Show CATAACATAACATAAT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03098.hp1 NA19081.hp1 HG02155.hp1 HG03098.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0005 a0001c0001t0005g0016 a0001c0001t0009g0066 a0001c0001t0005g0005 a0001c0001t0005g0016 a0001c0001t0009g0066	3	342	0.0088	-15	c.35- others(30): Show c.35-1933_35-1919delATTATGTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112277946	TATAACAT others(8): Show TATAACATAACATAAC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0106 a0003c0003t0002g0106	1	342	0.0029	-15	c.35- others(30): Show c.35-1948_35-1934delGTTATGTTATGTTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320300	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	342	0.0029	-15	c.-52 others(34): Show c.-52+13155_-52+13169delATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95519601	GTTCGAGT others(8): Show GTTCGAGTGCTGTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00738.hp2 others(64): Show HG00597.hp1 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01517.hp1 HG01884.hp2 HG01952.hp1 HG02027.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03704.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0014	a0001c0002 a0001c0003 a0001c0004 others(12): Show a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0031 a0002c0001 a0002c0020 a0003c0005 a0003c0012 a0005c0007 a0006c0010 a0007c0026 a0009c0027 a0013c0040 a0014c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0013 a0001c0003t0023 a0001c0003t0030 a0001c0003t0037 a0001c0004t0002 a0001c0014t0021 a0001c0031t0032 a0002c0001t0028 a0002c0020t0003 a0003c0005t0001 a0003c0005t0002 a0003c0005t0004 a0003c0012t0002 a0005c0007t0001 a0006c0010t0007 a0007c0026t0004 a0009c0027t0002 a0013c0040t0022 a0014c0017t0022	a0001c0002t0001g0033 a0001c0002t0001g0072 a0001c0002t0001g0073 others(60): Show a0001c0002t0001g0033 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0002g0005 a0001c0002t0002g0194 a0001c0002t0002g0213 a0001c0002t0002g0262 a0001c0002t0005g0200 a0001c0002t0005g0206 a0001c0002t0007g0035 a0001c0002t0011g0008 a0001c0002t0013g0009 a0001c0003t0001g0007 a0001c0003t0001g0159 a0001c0003t0001g0165 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0173 a0001c0003t0003g0176 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0004g0158 a0001c0003t0005g0207 a0001c0003t0005g0209 a0001c0003t0008g0201 a0001c0003t0013g0208 a0001c0003t0023g0037 a0001c0003t0023g0038 a0001c0003t0030g0172 a0001c0003t0037g0036 a0001c0004t0002g0251 a0001c0004t0002g0253 a0001c0014t0021g0211 a0001c0014t0021g0212 a0001c0031t0032g0210 a0002c0001t0028g0104 a0002c0020t0003g0177 a0003c0005t0001g0174 a0003c0005t0001g0175 a0003c0005t0001g0224 a0003c0005t0002g0205 a0003c0005t0004g0215 a0003c0012t0002g0183 a0005c0007t0001g0188 a0006c0010t0007g0012 a0006c0010t0007g0264 a0006c0010t0007g0265 a0007c0026t0004g0225 a0009c0027t0002g0189 a0013c0040t0022g0263 a0014c0017t0022g0019	67	278	0.2410	-15	c.-27 others(26): Show c.-2796_-2782delGAAACAGCACTCGAA	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding		2631		chr9	TogoVar
PTCH2_chr1_44816938_44848253	44838394	ACCACGCC others(8): Show ACCACGCCTGGCTAAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	370	0.0027	-15	c.265 others(32): Show c.265+3438_265+3452delATTAGCCAGGCGTGG	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	2/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23334749	CTCGCCGC others(8): Show CTCGCCGCCGCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0293 a0001c0002t0011g0293	1	297	0.0034	-15	c.-12 others(24): Show c.-126_-112delTCGCCGCCGCCGCCG	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		99		chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23350060	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0110 a0001c0001t0032g0110	1	297	0.0034	-15	c.351 others(34): Show c.351+14849_351+14863delAAAAAAAAAAAAAAA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47914733	TTATCTAT others(8): Show TTATCTATCTATTATC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0100 a0001c0002t0020g0100	1	182	0.0055	-15	c.899 others(34): Show c.899-34812_899-34798delGATAATAGATAGATA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCRA_chr6_42911053_42930838	42916248	ACCTCTGG others(8): Show ACCTCTGGGGAGGGTC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	412	0.0024	-15	c.58+ others(28): Show c.58+135_58+149delTCCCTCTGGGGAGGG	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42917190	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01891.hp2 others(11): Show HG01243.hp2 HG01255.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03516.hp1 HG03579.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0011 a0002c0002t0001g0095 a0002c0002t0001g0096 others(6): Show a0002c0002t0001g0011 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0006c0006t0001g0020	14	412	0.0340	-15	c.58+ others(30): Show c.58+1092_58+1106delATTATTATTATTATT	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTCRA_chr6_42911053_42930838	42917526	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0194 a0002c0002t0001g0195	2	412	0.0049	-15	c.58+ others(30): Show c.58+1429_58+1443delTTATTATTATTATTA	PTCRA	ENSG00000171611.10	transcript	ENST00000304672.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTDSS1_chr8_96256902_96341995	96265584	CAAACAAA others(8): Show CAAACAAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0041	1	262	0.0038	-15	c.179 others(32): Show c.179+3389_179+3403delCAAAACAAAACAAAA	PTDSS1	ENSG00000156471.13	transcript	ENST00000517309.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTDSS2_chr11_445279_496399	494148	CGCTGGGC others(8): Show CGCTGGGCTGGGCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01358.hp1 others(3): Show HG00099.hp2 HG00735.hp1 HG01358.hp1 HG03688.hp1 HG03927.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0025 a0001c0001t0001g0230 a0001c0001t0001g0246 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0269 a0001c0001t0015g0213	6	346	0.0173	-15	c.35 others(26): Show c.3567_*3581delGCTGGGCTGGGCTGG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding		2750		chr11	TogoVar
PTGER3_chr1_70965782_71052816	71027206	GAGGCTGG others(8): Show GAGGCTGGAGTGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(55): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00741.hp1 HG01168.hp1 HG01256.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp1 HG02080.hp2 HG02083.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02970.hp1 HG03041.hp2 HG03654.hp2 HG03669.hp1 HG03927.hp2 HG04204.hp1 NA18948.hp2 NA18949.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18989.hp2 NA18990.hp2 NA18999.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0009t0002	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0032 others(54): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0277 a0001c0001t0002g0316 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0360 a0007c0009t0002g0036	58	372	0.1559	-15	c.898 others(34): Show c.898-14737_898-14723delACTGCACTCCAGCCT	PTGER3	ENSG00000050628.21	transcript	ENST00000306666.10	protein_coding	1/3			chr1	TogoVar
PTGES3L_chr17_42963103_42985080	42965994	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	336	0.0030	-15	c.31 others(26): Show c.3139_*3153delTTTTTTTTTTTTTTT	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		2108		chr17	TogoVar
PTGES3_chr12_56658349_56693284	56685770	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	372	0.0027	-15	c.2+2 others(28): Show c.2+2213_2+2227delAAAAAAAAAAAAAAA	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGFR_chr1_78485974_78545701	78524906	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0331 a0001c0002t0001g0331	1	386	0.0026	-15	c.799 others(34): Show c.799-11480_799-11466delTTTTTTTTTTTTTTT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGIR_chr19_46615468_46630089	46619550	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	420	0.0024	-15	c.17 others(26): Show c.1715_*1729delCTCTCTCTCTCTCTC	PTGIR	ENSG00000160013.9	transcript	ENST00000291294.7	protein_coding		917		chr19	TogoVar
PTGR1_chr9_111557567_111604647	111564277	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG01891.hp1 others(15): Show HG01192.hp1 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0002g0311 a0002c0002t0001g0246 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245	18	408	0.0441	-15	c.880 others(32): Show c.880-1061_880-1047delTAATAATAATAATAA	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding	9/9			chr9	TogoVar
PTGR2_chr14_73846831_73890726	73883188	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0001t0011 a0001c0002t0001	a0001c0001t0011g0134 a0001c0002t0001g0238 a0001c0001t0011g0134 a0001c0002t0001g0238	2	420	0.0048	-15	c.979 others(30): Show c.979+768_979+782delTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR3_chr18_75190113_75214139	75203064	ATTTCACA others(8): Show ATTTCACAGTCCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0089 a0001c0001t0024g0089	1	434	0.0023	-15	c.210 others(30): Show c.210-739_210-725delAAAAGGACTGTGAAA	PTGR3	ENSG00000180011.7	transcript	ENST00000322342.4	protein_coding	1/1			chr18	TogoVar
PTGS1_chr9_122366024_122400703	122383196	GTTTTTTT others(8): Show GTTTTTTTTTTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(101): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18944.hp1 NA18968.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0002 a0001c0006 a0001c0008 others(10): Show a0001c0002 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0002c0007 a0003c0005 a0003c0026 a0004c0009 a0005c0010 a0008c0016 a0009c0019	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0022 a0001c0006t0007 a0001c0006t0008 a0001c0006t0009 a0001c0008t0001 a0001c0008t0002 a0001c0011t0001 a0001c0011t0002 a0001c0012t0005 a0001c0012t0013 a0001c0013t0010 a0002c0007t0001 a0003c0005t0005 a0003c0005t0007 a0003c0026t0026 a0004c0009t0001 a0005c0010t0002 a0008c0016t0001 a0009c0019t0021	a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0029 others(70): Show a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0116 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0143 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0208 a0001c0002t0001g0219 a0001c0002t0001g0230 a0001c0002t0002g0020 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0065 a0001c0002t0002g0169 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0006g0004 a0001c0002t0006g0137 a0001c0002t0006g0145 a0001c0002t0006g0172 a0001c0002t0022g0146 a0001c0006t0007g0043 a0001c0006t0007g0197 a0001c0006t0007g0198 a0001c0006t0008g0199 a0001c0006t0008g0200 a0001c0006t0008g0216 a0001c0006t0009g0037 a0001c0008t0001g0222 a0001c0008t0001g0225 a0001c0008t0002g0220 a0001c0008t0002g0221 a0001c0008t0002g0223 a0001c0008t0002g0224 a0001c0008t0002g0226 a0001c0011t0001g0196 a0001c0011t0002g0023 a0001c0012t0005g0063 a0001c0012t0013g0049 a0001c0013t0010g0136 a0001c0013t0010g0215 a0002c0007t0001g0014 a0002c0007t0001g0025 a0002c0007t0001g0089 a0002c0007t0001g0090 a0002c0007t0001g0091 a0002c0007t0001g0144 a0003c0005t0005g0003 a0003c0005t0005g0074 a0003c0005t0007g0013 a0003c0026t0026g0077 a0004c0009t0001g0019 a0004c0009t0001g0203 a0004c0009t0001g0204 a0004c0009t0001g0205 a0004c0009t0001g0229 a0005c0010t0002g0012 a0005c0010t0002g0133 a0008c0016t0001g0068 a0009c0019t0021g0069	104	332	0.3133	-15	c.763 others(30): Show c.763-295_763-281delTTTTTTTTCTTTTTT	PTGS1	ENSG00000095303.17	transcript	ENST00000362012.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTH2R_chr2_208401792_208499506	208417541	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01074.hp1 others(16): Show HG00280.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01261.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG02015.hp2 HG02132.hp1 HG02165.hp2 HG02809.hp1 HG02896.hp2 HG03098.hp1 HG03471.hp1 HG03704.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0003t0003 a0002c0004t0004 a0001c0001t0001 a0001c0003t0003 a0002c0004t0004	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 others(15): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0003t0003g0015 a0001c0003t0003g0020 a0001c0003t0003g0259 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0269 a0001c0003t0003g0270 a0002c0004t0004g0268 a0002c0004t0004g0271 a0002c0004t0004g0272 a0002c0004t0004g0273 a0002c0004t0004g0274	19	294	0.0646	-15	c.75+ others(32): Show c.75+10438_75+10452delTTTTTTTTTTTTTTT	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTH2R_chr2_208401792_208499506	208477970	GTACTACT others(8): Show GTACTACTAGCACTAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0258 a0001c0012t0004g0258	1	294	0.0034	-15	c.982 others(32): Show c.982-3094_982-3080delCTAGCACTACTACTA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350989	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	328	0.0031	-15	c.-38 others(34): Show c.-38+25310_-38+25324delATATATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350991	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(27): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01884.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02523.hp2 HG03239.hp2 HG03540.hp1 HG04199.hp2 NA18955.hp1 NA18955.hp2 NA18966.hp1 NA18967.hp2 NA18990.hp2 NA18994.hp2 NA19005.hp1 NA19009.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0003 a0001c0002t0001 a0001c0009t0002 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0009t0002 a0001c0012t0004 a0002c0003t0002 a0002c0004t0002 a0002c0005t0001	a0001c0001t0003g0054 a0001c0001t0003g0276 a0001c0002t0001g0140 others(26): Show a0001c0001t0003g0054 a0001c0001t0003g0276 a0001c0002t0001g0140 a0001c0002t0001g0144 a0001c0009t0002g0237 a0001c0012t0004g0053 a0002c0003t0002g0003 a0002c0003t0002g0023 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0251 a0002c0003t0002g0253 a0002c0003t0002g0259 a0002c0003t0002g0261 a0002c0003t0002g0263 a0002c0003t0002g0265 a0002c0003t0002g0266 a0002c0003t0002g0270 a0002c0003t0002g0271 a0002c0003t0002g0274 a0002c0003t0002g0307 a0002c0003t0002g0308 a0002c0004t0002g0101 a0002c0004t0002g0107 a0002c0004t0002g0246 a0002c0005t0001g0202	30	328	0.0915	-15	c.-38 others(34): Show c.-38+25311_-38+25325delTATATATATATATAT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30			chr8	TogoVar
PTK2_chr8_140652900_141006282	140670491	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01975.hp2 HG02055.hp2 others(12): Show HG01884.hp2 HG01975.hp2 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0205 a0001c0003t0001g0215 others(12): Show a0001c0003t0001g0184 a0001c0003t0001g0205 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0001g0255 a0001c0003t0001g0266 a0001c0003t0001g0276	15	290	0.0517	-15	c.283 others(32): Show c.2833-771_2833-757delGTGTGTGTGTGTGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35			chr8	TogoVar

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