Joint Open Genome and Omics Platform (JoGo)

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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
POU6F2_chr7_38972909_39473601	39030543	T T	TATATATA others(13): Show TATATATATATATATGTATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02056.hp1 HG02080.hp1 others(3): Show HG01361.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02280.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0006 a0001c0001 a0002c0004 a0002c0006	a0001c0001t0002 a0002c0004t0002 a0002c0006t0001 a0001c0001t0002 a0002c0004t0002 a0002c0006t0001	a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0068 others(3): Show a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0068 a0002c0004t0002g0108 a0002c0006t0001g0013 a0002c0006t0001g0019	6	170	0.0353	20	c.105 others(39): Show c.105+52486_105+52487insTATATATATATATGTATACA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39068490	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03486.hp1 HG02738.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0090 a0002c0006t0001g0166 a0001c0002t0001g0090 a0002c0006t0001g0166	2	170	0.0118	20	c.106 others(39): Show c.106-17353_106-17352insTATATATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39070373	C C	CCCTCCAC others(13): Show CCCTCCACACTTCTGCTTTTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	170	0.0059	20	c.106 others(39): Show c.106-15461_106-15442dupACACTTCTGCTTTTGCCTCC	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39123920	G G	GAATATAA others(13): Show GAATATAAATTGCATAGATGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	170	0.0059	20	c.277 others(39): Show c.277+37905_277+37924dupGATGCAATATAAATTGCATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39150225	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02809.hp1 others(1): Show HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0026 a0001c0001t0001 a0001c0001t0002 a0001c0005t0026	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0003 a0001c0005t0026g0007	4	170	0.0235	20	c.278 others(39): Show c.278-53994_278-53975dupGTGTGTGTGTGTGTGTGTGT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39246905	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02976.hp1 HG03486.hp1 HG02897.hp2 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0013 a0001c0002t0001 a0001c0005t0013	a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0005t0013g0080 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0005t0013g0080	3	170	0.0177	20	c.598 others(39): Show c.598+39289_598+39308dupTTTTTTTTTTTTTTTTTTTT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39260549	C C	CATACCAC others(13): Show CATACCACATTCCACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02615.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG02615.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0008 a0001c0005t0001 a0001c0001t0008 a0001c0005t0001	a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 others(1): Show a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0005t0001g0061	4	170	0.0235	20	c.598 others(39): Show c.598+52930_598+52931insTACCACATTCCACACACATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39278088	A A	AGAGGGAG others(13): Show AGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp2 HG03834.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0006 a0001c0001t0002 a0002c0008t0006	a0001c0001t0002g0130 a0002c0008t0006g0043 a0001c0001t0002g0130 a0002c0008t0006g0043	2	170	0.0118	20	c.599 others(39): Show c.599-61552_599-61533dupAGGGAGGGAGGGAGGGAGGG	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39397814	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01074.hp2 others(3): Show HG00639.hp1 HG00738.hp1 HG01074.hp2 NA18955.hp1 NA18983.hp1 NA19084.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0005c0010	a0001c0001t0009 a0002c0004t0001 a0002c0008t0006 others(2): Show a0001c0001t0009 a0002c0004t0001 a0002c0008t0006 a0002c0008t0016 a0005c0010t0022	a0001c0001t0009g0123 a0001c0001t0009g0158 a0002c0004t0001g0072 others(3): Show a0001c0001t0009g0123 a0001c0001t0009g0158 a0002c0004t0001g0072 a0002c0008t0006g0070 a0002c0008t0016g0157 a0005c0010t0022g0167	6	170	0.0353	20	c.973 others(37): Show c.973-8785_973-8766dupTATATATATATATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PP2D1_chr3_19980346_20017264	20012956	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01175.hp1 others(9): Show HG00609.hp2 HG01109.hp2 HG01175.hp1 HG01433.hp1 HG01975.hp1 HG02129.hp2 HG02486.hp1 HG03017.hp2 HG04228.hp1 NA18963.hp2 NA18971.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0010t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0006 a0002c0002t0002 a0002c0002t0003 a0003c0003t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0184 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0184 a0001c0010t0006g0164 a0002c0002t0002g0179 a0002c0002t0003g0011 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0060 a0002c0002t0003g0071 a0002c0002t0003g0072 a0003c0003t0004g0163	12	396	0.0303	20	c.-88 others(29): Show c.-885_-884insTATATATATATATATATATA	PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding		693		chr3	TogoVar
PPA1_chr10_70197835_70238429	70206865	A A	AGGAGGGG others(13): Show AGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG02055.hp2 others(2): Show HG00673.hp2 HG01106.hp1 HG02055.hp2 HG02922.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0071 a0001c0001t0001g0198 a0001c0001t0001g0211 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0002g0343 a0001c0002t0001g0302	5	408	0.0123	20	c.726 others(35): Show c.726-552_726-533dupCCTCCCCTCCCCTCCCCTCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70206871	G G	GGAGGGGA others(13): Show GGAGGGGAGGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	408	0.0025	20	c.726 others(35): Show c.726-539_726-538insTCCTCCCCTCCCCTCCCCTC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70221027	A A	ATATATAT others(13): Show ATATATATATATAATTTATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	408	0.0025	20	c.124 others(37): Show c.124-2211_124-2210insATATAAATTATATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA20300.hp2 HG01169.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0107 a0001c0001t0001g0114	2	408	0.0049	20	c.124 others(37): Show c.124-2260_124-2259insAAAAAAAAAAAATATATATA	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA1_chr10_70197835_70238429	70223217	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19058.hp1 NA19012.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0055 a0001c0001t0001g0063	2	408	0.0049	20	c.124 others(37): Show c.124-4401_124-4400insCTCTCTCTCTCTCTCTCTCT	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPA2_chr4_105364077_105479062	105460858	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG02486.hp2 HG03453.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0008 a0005c0005t0001g0009	2	366	0.0055	20	c.158 others(37): Show c.158-4114_158-4113insATATATATATATATATATAT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/11			chr4	TogoVar
PPARD_chr6_35337558_35433178	35377871	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG03209.hp1 others(2): Show HG01255.hp1 HG02257.hp2 HG03209.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0034 a0001c0002t0003 a0001c0002t0005 a0001c0002t0034	a0001c0002t0003g0078 a0001c0002t0005g0055 a0001c0002t0005g0056 others(2): Show a0001c0002t0003g0078 a0001c0002t0005g0055 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0034g0059	5	238	0.0210	20	c.-10 others(41): Show c.-102+30732_-102+30733insTTTTTTTTTTTTTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35377874	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp2 HG02896.hp2 others(2): Show HG00642.hp2 HG02486.hp2 HG02896.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0066 a0001c0002t0004g0072 a0001c0002t0004g0074 others(2): Show a0001c0002t0004g0066 a0001c0002t0004g0072 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0077	5	238	0.0210	20	c.-10 others(41): Show c.-102+30732_-102+30733insTTTTTTTTTTTCTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1A_chr4_23787021_23895047	23859780	C C	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19063.hp2 NA18983.hp1 NA19063.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0002 a0003c0004t0017g0002	2	342	0.0059	20	c.234 others(39): Show c.234+24952_234+24971dupATTTTATTTTATTTTATTTT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1B_chr5_149725310_149860022	149750453	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp1 HG02132.hp2 others(2): Show HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02738.hp2 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0003c0003 a0001c0001 a0002c0008 a0003c0003	a0001c0001t0003 a0002c0008t0008 a0003c0003t0004 a0001c0001t0003 a0002c0008t0008 a0003c0003t0004	a0001c0001t0003g0135 a0001c0001t0003g0159 a0002c0008t0008g0191 others(2): Show a0001c0001t0003g0135 a0001c0001t0003g0159 a0002c0008t0008g0191 a0003c0003t0004g0150 a0003c0003t0004g0179	5	320	0.0156	20	c.78+ others(37): Show c.78+20050_78+20069dupATATATATATATATATATAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149755040	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG06807.hp2 HG03831.hp2 HG06807.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0001 a0007c0019t0017 a0001c0001t0001 a0007c0019t0017	a0001c0001t0001g0271 a0007c0019t0017g0314 a0001c0001t0001g0271 a0007c0019t0017g0314	2	320	0.0063	20	c.78+ others(37): Show c.78+24625_78+24626insTATATATATATATATATATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149755046	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0005 a0015 a0005 a0015	a0005c0026 a0015c0027 a0005c0026 a0015c0027	a0005c0026t0034 a0015c0027t0037 a0005c0026t0034 a0015c0027t0037	a0005c0026t0034g0310 a0015c0027t0037g0318 a0005c0026t0034g0310 a0015c0027t0037g0318	2	320	0.0063	20	c.78+ others(37): Show c.78+24631_78+24632insTATATATATATATATATATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149755052	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0026 a0008c0016t0026	a0008c0016t0026g0009 a0008c0016t0026g0009	1	320	0.0031	20	c.78+ others(37): Show c.78+24634_78+24653dupTATATATATATATATATATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149777784	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0125 a0002c0002t0010g0125	1	320	0.0031	20	c.79- others(37): Show c.79-42625_79-42606dupCACACACACACACACACACA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARG_chr3_12284070_12439344	12406532	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01074.hp1 others(10): Show HG00673.hp1 HG00738.hp1 HG01074.hp1 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG03516.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA19082.hp2 NA19088.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0120 others(10): Show a0001c0001t0001g0095 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0200 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0276 a0001c0002t0001g0104 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115	13	294	0.0442	20	c.729 others(35): Show c.729+457_729+476dupTTTTTTTTTTTTTTTTTTTT	PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG02615.hp1 others(1): Show HG00438.hp2 HG01255.hp1 HG02615.hp1 HG03669.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0066 a0001c0001t0001g0125 a0001c0001t0001g0131 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0125 a0001c0001t0001g0131 a0005c0006t0001g0236	4	270	0.0148	20	c.37 others(31): Show c.3784_*3785insAAAATATATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02004.hp2 HG03516.hp2 others(2): Show HG01981.hp2 HG02004.hp2 HG03516.hp2 NA18950.hp2 NA18990.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0126 a0005c0006t0001g0235	5	270	0.0185	20	c.37 others(31): Show c.3784_*3785insAAAAAATATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	270	0.0037	20	c.37 others(31): Show c.3784_*3785insAAAAAAAATATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	270	0.0037	20	c.37 others(31): Show c.3784_*3785insAAAAAAAAAATATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	270	0.0037	20	c.37 others(31): Show c.3784_*3785insAAAAAAAAAAAATATATATA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75870878	C C	CATTTATT others(13): Show CATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02738.hp2 HG01257.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0133 a0001c0001t0002g0027 a0001c0001t0001g0133 a0001c0001t0002g0027	2	270	0.0074	20	c.164 others(39): Show c.1649+1127_1649+1146dupAAATAAATAAATAAATAAAT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	13/16			chr4	TogoVar
PPEF2_chr4_75854867_75907452	75905380	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02145.hp2 others(10): Show HG01243.hp2 HG02055.hp1 HG02145.hp2 HG02280.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0010	a0001c0001 a0002c0004 a0006c0007 others(2): Show a0001c0001 a0002c0004 a0006c0007 a0008c0010 a0010c0025	a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 a0006c0007t0003 a0008c0010t0001 a0010c0025t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 others(10): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0003g0228 a0002c0004t0003g0226 a0006c0007t0003g0204 a0006c0007t0003g0205 a0006c0007t0003g0207 a0008c0010t0001g0208 a0010c0025t0001g0206	13	270	0.0482	20	c.-32 others(31): Show c.-3210_-3209insTAAATAAATAAATAAATAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding		2929		chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70277037	G G	GATATATA others(13): Show GATATATATATATATTATTAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0167 a0003c0007t0003g0167	1	282	0.0036	20	c.264 others(37): Show c.264+4615_264+4616insTATTATATATATATATATAT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA1_chr11_70265690_70389396	70279905	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0039 a0001c0003t0003g0039	1	282	0.0036	20	c.264 others(37): Show c.264+7482_264+7483insGTGTGTGTGTGTGTGTGTGT	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81585028	A A	AATTATAT others(13): Show AATTATATTTATATATAATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	168	0.0060	20	c.303 others(39): Show c.303+91743_303+91762dupATATTATATATAAATATAAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA3_chr19_49114544_49156026	49137628	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01433.hp1 HG02280.hp2 others(3): Show HG01358.hp2 HG01433.hp1 HG02280.hp2 HG02683.hp2 HG02809.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0270 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0270 a0001c0001t0002g0166 a0001c0001t0002g0182 a0001c0001t0002g0195	6	362	0.0166	20	c.185 others(37): Show c.1854-566_1854-547dupAAAAAAAAAAAAAAAAAAAA	PPFIA3	ENSG00000177380.14	transcript	ENST00000334186.9	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
PPFIBP1_chr12_27519206_27700564	27644244	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02523.hp1 NA19002.hp1 others(1): Show HG02080.hp1 HG02523.hp1 NA19002.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0002g0106	4	314	0.0127	20	c.271 others(37): Show c.271-1812_271-1793dupTTTTTTTTTTTTTTTTTTTT	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7554795	A A	AGACTGGA others(13): Show AGACTGGACTGGACTGGACTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0054 a0002c0003t0007g0054	1	318	0.0031	20	c.64+ others(35): Show c.64+5260_64+5261insGGACTGGACTGGACTGGACT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7554800	A A	AGACTGGA others(13): Show AGACTGGACTGGACTGGACTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG03491.hp2 others(2): Show HG00280.hp1 HG01358.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0287 others(2): Show a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0287 a0001c0001t0001g0288 a0003c0005t0001g0299	5	318	0.0157	20	c.64+ others(35): Show c.64+5265_64+5266insGGACTGGACTGGACTGGACT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7577315	A A	ATGTGCGT others(13): Show ATGTGCGTGTGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	318	0.0031	20	c.279 others(39): Show c.279+11562_279+11563insCGTGTGTGTGCGTGTGTGTG	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPHLN1_chr12_42321167_42447181	42350996	C C	CGGGAGAG others(13): Show CGGGAGAGGGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	376	0.0027	20	c.73- others(33): Show c.73-886_73-867dupGAGAGGGAGAGGGGGAGGGG	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42360458	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	376	0.0027	20	c.299 others(37): Show c.299+5246_299+5265dupTTTTTTTTTTTTTTTTTTTT	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIAL4C_chr1_149578848_149589607	149583527	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	20	c.-37 others(29): Show c.-371_-370insAAGAAAGAAAGAAAGAAAAG	PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding		320		chr1	TogoVar
PPIAL4D_chr1_145236415_145247174	145242426	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01255.hp2 others(9): Show HG00099.hp1 HG00735.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG02132.hp2 HG02451.hp2 NA18957.hp1 NA18999.hp1 NA19043.hp1 NA19064.hp2 NA19065.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0005t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0004c0005t0001g0000	12	396	0.0303	20	c.-30 others(29): Show c.-303_-302insGAAAGAAAGAAAGAAAGAAA	PPIAL4D	ENSG00000289549.1	transcript	ENST00000544708.3	protein_coding		253		chr1	TogoVar
PPIAL4E_chr1_144367875_144378634	144373886	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	202	0.0050	20	c.-30 others(29): Show c.-303_-302insGAAAGAAAGAAAGAAAGAAA	PPIAL4E	ENSG00000271567.2	transcript	ENST00000581164.2	protein_coding		253		chr1	TogoVar
PPIAL4G_chr1_148477548_148488302	148483555	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	450	0.0022	20	c.-30 others(29): Show c.-304_-303insGAAAGAAAGAAAGAAAGAAA	PPIAL4G	ENSG00000236334.3	transcript	ENST00000419275.3	protein_coding		254		chr1	TogoVar
PPIAL4H_chr1_146339006_146349765	146345018	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	20	c.-30 others(29): Show c.-304_-303insGAAAGAAAGAAAGAAAGAAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		254		chr1	TogoVar
PPID_chr4_158704127_158728396	158709019	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	348	0.0029	20	c.69 others(29): Show c.697_*716dupCACACACACACACACACACA	PPID	ENSG00000171497.5	transcript	ENST00000307720.4	protein_coding		107		chr4	TogoVar
PPIE_chr1_39733882_39761769	39737966	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01069.hp1 others(30): Show HG00099.hp1 HG00423.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG02155.hp2 HG02683.hp1 HG02698.hp2 HG03130.hp1 HG03654.hp1 HG04228.hp1 NA18967.hp1 NA18971.hp2 NA18975.hp1 NA18986.hp1 NA18999.hp2 NA19054.hp2 NA19065.hp1 NA19075.hp2 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0012 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0019 a0001c0001t0027 a0002c0004t0007	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0012g0004 a0001c0001t0019g0045 a0001c0001t0027g0002 a0002c0004t0007g0037	33	434	0.0760	20	c.-93 others(29): Show c.-935_-934insTGTGTGTGTGTGTGTGTGTG	PPIE	ENSG00000084072.17	transcript	ENST00000324379.10	protein_coding		915		chr1	TogoVar
PPIG_chr2_169579351_169646406	169598836	T T	TATGTATA others(13): Show TATGTATATAAATACAGGTAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18945.hp2 NA18955.hp2 others(8): Show NA18941.hp2 NA18945.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0070 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0017g0004	11	382	0.0288	20	c.-69 others(37): Show c.-69-4806_-69-4805insATGTATATAAATACAGGTAA	PPIG	ENSG00000138398.17	transcript	ENST00000260970.8	protein_coding	1/13			chr2	TogoVar

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