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
PPP3CA_chr4_101018418_101352526	101106456	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0108 a0001c0004t0011g0108	1	169	0.0059	17	c.384 others(34): Show c.384+2497_384+2498insCTTTCTTTCTTTCTTTC	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101278122	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0013 a0001c0001t0009g0014	2	52	0.0385	17	c.58+ others(34): Show c.58+68600_58+68616dupTTTTTTTTTTTTTTTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CA_chr4_101018418_101352526	101324150	G G	GAAGGAAG others(10): Show GAAGGAAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	177	0.0056	17	c.58+ others(34): Show c.58+22588_58+22589insTCCTTCCTCCCTTCCTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	1/13			chr4	TogoVar
PPP3CC_chr8_22436078_22546125	22489650	A A	AATAAGTA others(10): Show AATAAGTATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00733.hp2 others(35): Show HG00438.hp1 HG00597.hp1 HG00733.hp2 HG02027.hp2 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03834.hp1 NA18906.hp2 NA18945.hp1 NA18956.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0002c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 others(33): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0295 a0001c0001t0004g0002 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0322 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0009g0061 a0002c0002t0003g0006 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0009	38	310	0.1226	17	c.373 others(34): Show c.373-8314_373-8298dupAAGTATATATTATATAT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22489660	T T	TATTATAT others(10): Show TATTATATATAAGTATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	324	0.0031	17	c.373 others(34): Show c.373-8325_373-8324insGATTATATATAAGTATA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22496485	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	73	0.0137	17	c.373 others(34): Show c.373-1502_373-1486dupTTTTTTTTTTTTTTTTT	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3CC_chr8_22436078_22546125	22530829	C C	CAAACAAA others(10): Show CAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18522.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0048 a0001c0001t0003g0052	2	96	0.0208	17	c.114 others(36): Show c.1142-1393_1142-1392insCAAAAAAAAAAAAAAAA	PPP3CC	ENSG00000120910.15	transcript	ENST00000240139.10	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP3R1_chr2_68173857_68257532	68198062	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0017 a0001c0002t0009g0017	1	71	0.0141	17	c.44- others(32): Show c.44-9389_44-9373dupTTTTTTTTTTTTTTTTT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP3R1_chr2_68173857_68257532	68209358	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18990.hp2 NA18979.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	54	0.0370	17	c.43+ others(32): Show c.43+7717_43+7733dupTTTTTTTTTTTTTTTTT	PPP3R1	ENSG00000221823.11	transcript	ENST00000234310.8	protein_coding	2/5			chr2	TogoVar
PPP4R3A_chr14_91452508_91515310	91468667	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp1 HG02818.hp2 others(1): Show HG01517.hp1 HG02015.hp1 HG02818.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0242 a0001c0001t0001g0349 a0001c0001t0001g0350 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0003t0001g0351	4	24	0.1667	17	c.166 others(36): Show c.1660+2153_1660+2169dupTTTTTTTTTTTTTTTTT	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	10/14			chr14	TogoVar
PPP4R3A_chr14_91452508_91515310	91507371	A A	ATAGTATA others(10): Show ATAGTATATATACTATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp2 HG02647.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0134 a0001c0001t0002g0041 a0001c0001t0002g0134	2	227	0.0088	17	c.142 others(34): Show c.142+2134_142+2135insATATAGTATATATACTA	PPP4R3A	ENSG00000100796.18	transcript	ENST00000554943.6	protein_coding	1/14			chr14	TogoVar
PPP4R3B_chr2_55542292_55622622	55615857	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG03579.hp2 HG02630.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172	3	106	0.0283	17	c.143 others(32): Show c.143-368_143-352dupTTTTTTTTTTTTTTTTT	PPP4R3B	ENSG00000275052.5	transcript	ENST00000616407.2	protein_coding	1/16			chr2	TogoVar
PPP5C_chr19_46342087_46395975	46343508	T T	TTTTCCTT others(10): Show TTTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0342	1	64	0.0156	17	c.-35 others(28): Show c.-3589_-3588insTTTCCTTCCTTCCTTCC	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		3578		chr19	TogoVar
PPP5C_chr19_46342087_46395975	46389484	C C	CGAATCCT others(10): Show CGAATCCTGCCAAGTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0344 a0001c0009t0001g0344	1	392	0.0026	17	c.135 others(34): Show c.1356-566_1356-550dupGAATCCTGCCAAGTTCT	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPP5C_chr19_46342087_46395975	46395633	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03834.hp2 NA18962.hp1 HG03710.hp2 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0269 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0001t0001g0269 a0001c0003t0001g0295 a0001c0003t0001g0296	3	12	0.2500	17	c.52 others(28): Show c.5287_*5288insAAAAAAAAAAAAAAAAA	PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding		4659		chr19	TogoVar
PPP6C_chr9_125141573_125194803	125167379	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0345 a0001c0001t0004g0345	1	235	0.0043	17	c.171 others(34): Show c.171+3689_171+3705dupTTTTTTTTTTTTTTTTT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6C_chr9_125141573_125194803	125167389	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0333 a0001c0001t0006g0333	1	383	0.0026	17	c.171 others(34): Show c.171+3695_171+3696insCTTTTTTTTTTTTTTTT	PPP6C	ENSG00000119414.12	transcript	ENST00000373547.9	protein_coding	2/6			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50344491	G G	GCCCCCTC others(10): Show GCCCCCTCTAGTCAGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0030 a0009c0030	a0009c0030t0022 a0009c0030t0022	a0009c0030t0022g0038 a0009c0030t0022g0038	1	336	0.0030	17	c.-14 others(34): Show c.-148+946_-148+947insTCTAGTCAGTTCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0176 a0001c0001t0016g0176	1	94	0.0106	17	c.-15 others(38): Show c.-158+16915_-158+16916insAAAAAAATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68477741	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02165.hp2 HG01081.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0211 a0001c0001t0002g0002 a0001c0001t0002g0211	2	95	0.0211	17	c.-15 others(38): Show c.-158+16915_-158+16916insATATATATATATATATA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68506414	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19080.hp1 NA18965.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0182 a0001c0001t0002g0184	2	12	0.1667	17	c.-15 others(38): Show c.-157-13069_-157-13053dupAAAAAAAAAAAAAAAAA	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68508121	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0022 a0002c0002t0007g0022	1	88	0.0114	17	c.-15 others(38): Show c.-157-11371_-157-11355dupTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68542389	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	31	0.0323	17	c.228 others(34): Show c.228-2443_228-2427dupTTTTTTTTTTTTTTTTT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP6R3_chr11_68455752_68620334	68573154	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	232	0.0043	17	c.134 others(34): Show c.1344-955_1344-954insTATATATATATATATAT	PPP6R3	ENSG00000110075.15	transcript	ENST00000393800.7	protein_coding	12/23			chr11	TogoVar
PPT1_chr1_40067712_40102252	40089286	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00597.hp2 others(67): Show HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00735.hp2 HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18988.hp1 NA18994.hp2 NA18999.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0003 a0003c0003t0003	a0001c0001t0001g0023 a0001c0001t0001g0075 a0001c0001t0001g0112 others(45): Show a0001c0001t0001g0023 a0001c0001t0001g0075 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0128 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0226 a0001c0001t0004g0061 a0001c0001t0004g0246 a0001c0001t0004g0249 a0001c0001t0005g0062 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0154 a0002c0002t0003g0059 a0002c0002t0003g0223 a0003c0003t0003g0134	70	151	0.4636	17	c.536 others(32): Show c.536+123_536+124insTTTTTTTTTTTTTTTTT	PPT1	ENSG00000131238.18	transcript	ENST00000642050.2	protein_coding	5/8			chr1	TogoVar
PPWD1_chr5_65558296_65592549	65573476	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG00735.hp1 others(16): Show HG00438.hp1 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG02071.hp2 HG02818.hp2 NA18946.hp2 NA18969.hp1 NA18983.hp2 NA18991.hp2 NA19006.hp1 NA19012.hp2 NA19059.hp2 NA19074.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0022 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0219 a0001c0003t0001g0035	19	284	0.0669	17	c.969 others(34): Show c.969+1190_969+1191insATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10			chr5	TogoVar
PPWD1_chr5_65558296_65592549	65573516	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0183	1	162	0.0062	17	c.969 others(34): Show c.969+1251_969+1267dupTTTTTTTTTTTTTTTTT	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPWD1_chr5_65558296_65592549	65591645	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	142	0.0070	17	c.42 others(28): Show c.4249_*4250insATATATATATATATATA	PPWD1	ENSG00000113593.12	transcript	ENST00000261308.10	protein_coding		4097		chr5	TogoVar
PRAMEF14_chr1_13336892_13352134	13349217	A A	AAAGAAAG others(10): Show AAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	253	0.0040	17	c.-21 others(28): Show c.-2187_-2186insCTCTTTCTTTCTTTCTT	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2084		chr1	TogoVar
PRAMEF14_chr1_13336892_13352134	13349251	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	125	0.0080	17	c.-22 others(28): Show c.-2221_-2220insCTTTCTTTCTTTCTTTC	PRAMEF14	ENSG00000204481.8	transcript	ENST00000334600.7	protein_coding		2118		chr1	TogoVar
PRAMEF20_chr1_13405450_13426328	13417929	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0120 a0002c0003t0001g0120	1	440	0.0023	17	c.288 others(32): Show c.288-177_288-176insCGTGTGTGTGTGTGTGT	PRAMEF20	ENSG00000204478.11	transcript	ENST00000602960.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRAMEF2_chr1_12852086_12866909	12855223	C C	CGGAGCCT others(10): Show CGGAGCCTGGCCTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	336	0.0030	17	c.-19 others(28): Show c.-1950_-1949insGGAGCCTGGCCTGTCTA	PRAMEF2	ENSG00000120952.4	transcript	ENST00000240189.2	protein_coding		1862		chr1	TogoVar
PRCC_chr1_156762535_156805815	156774157	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01099.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	26	0.0769	17	c.468 others(34): Show c.468+5938_468+5954dupTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01256.hp2 others(3): Show HG01070.hp2 HG01071.hp1 HG01256.hp2 HG01433.hp2 HG01952.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0279 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0279	6	28	0.2143	17	c.132 others(34): Show c.1323+490_1323+491insGTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRCC_chr1_156762535_156805815	156795285	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG02615.hp1 others(4): Show HG00609.hp2 HG02083.hp2 HG02615.hp1 HG02622.hp1 HG03834.hp1 NA19070.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0270 a0001c0001t0001g0291 a0001c0001t0001g0292 others(4): Show a0001c0001t0001g0270 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0006g0295	7	29	0.2414	17	c.132 others(34): Show c.1323+485_1323+501dupTTTTTTTTTTTTTTTTT	PRCC	ENSG00000143294.15	transcript	ENST00000271526.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM12_chr9_130659594_130687983	130680634	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG04228.hp2 HG00733.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0019 a0001c0002t0002g0011 a0001c0002t0002g0019	2	228	0.0088	17	c.683 others(32): Show c.683-613_683-612insATATATATATATATATA	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19007.hp2 NA18942.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0002 a0001c0002t0002 a0001c0005t0002	a0001c0002t0002g0046 a0001c0005t0002g0126 a0001c0002t0002g0046 a0001c0005t0002g0126	2	123	0.0163	17	c.683 others(32): Show c.683-588_683-587insATATATATATATATTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	122	0.0082	17	c.683 others(32): Show c.683-588_683-587insATATATATATATTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0145 a0001c0005t0002g0145	1	122	0.0082	17	c.683 others(32): Show c.683-588_683-587insATATATATATTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	122	0.0082	17	c.683 others(32): Show c.683-588_683-587insATATTTTTTTTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM12_chr9_130659594_130687983	130680660	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0120 a0001c0002t0002g0012 a0001c0002t0002g0120	2	373	0.0054	17	c.683 others(32): Show c.683-588_683-587insATATATATATATATATA	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4			chr9	TogoVar
PRDM12_chr9_130659594_130687983	130686842	G G	GGTTTTAC others(10): Show GGTTTTACCATGTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0066 a0003c0004t0001g0066	1	390	0.0026	17	c.51 others(28): Show c.5173_*5174insGTTTTACCATGTGTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding		3860		chr9	TogoVar
PRDM15_chr21_41793225_41884344	41856106	T T	TTCCCTCC others(10): Show TTCCCTCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	387	0.0026	17	c.285 others(34): Show c.285+1069_285+1070insGGGAGGGGAGGGAGGGA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41874525	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0159 a0001c0001t0017g0159	1	80	0.0125	17	c.-10 others(34): Show c.-10+4744_-10+4745insAAAAAAAAATATATATA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	1/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3314071	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0062 a0001c0001t0087g0062	1	92	0.0109	17	c.438 others(36): Show c.438+69945_438+69946insGGGGGGGGGGGGGGGGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3409843	T T	TGTATGTG others(10): Show TGTATGTGCGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	208	0.0048	17	c.118 others(36): Show c.1187-1539_1187-1538insATGTGCGTGTGTGTGGT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM5_chr4_120686915_120927726	120872150	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01891.hp1 others(7): Show HG00733.hp2 HG00741.hp1 HG01891.hp1 HG02280.hp1 HG02451.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0010 a0001c0004t0001 a0001c0001t0001 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0096 a0001c0001t0001g0281 a0001c0001t0001g0282 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0010g0032 a0001c0004t0001g0024 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0184	10	76	0.1316	17	c.178 others(36): Show c.178-18627_178-18611dupTTTTTTTTTTTTTTTTT	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding	2/15			chr4	TogoVar
PRDM5_chr4_120686915_120927726	120904189	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01981.hp2 others(16): Show HG00639.hp1 HG01884.hp2 HG01981.hp2 HG02056.hp2 HG02129.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 NA18906.hp2 NA18951.hp1 NA18970.hp2 NA18990.hp1 NA18997.hp2 NA19006.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0095 a0001c0001t0001g0288 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0002g0079 a0001c0002t0002g0092	19	31	0.6129	17	c.177 others(34): Show c.177+3284_177+3285insTTTTTTTTTTTTTTTTT	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding	2/15			chr4	TogoVar
PRDM5_chr4_120686915_120927726	120923880	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03139.hp2 HG03225.hp1 others(3): Show HG01981.hp1 HG03139.hp2 HG03225.hp1 NA19043.hp2 NA19083.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0006t0001	a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0003g0102 others(3): Show a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0019g0105 a0001c0006t0001g0120	6	10	0.6000	17	c.-12 others(28): Show c.-1273_-1272insAAAAAAAAAAAAAAAAA	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding		1155		chr4	TogoVar
PRDX1_chr1_45506051_45526884	45515598	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp2 HG02976.hp1 others(1): Show HG01123.hp1 HG01981.hp2 HG02976.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0084	4	56	0.0714	17	c.260 others(30): Show c.260+39_260+55dupTTTTTTTTTTTTTTTTT	PRDX1	ENSG00000117450.15	transcript	ENST00000319248.13	protein_coding	3/5			chr1	TogoVar

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