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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PSMD14_chr2_161303425_161416717	161327981	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	268	0.0037	22	c.48+ others(37): Show c.48+9111_48+9112insTGTGTGTGTGTGTGTGTGAGTG		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01243.hp2 others(2): Show HG00735.hp2 HG01123.hp2 HG01243.hp2 HG02257.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0178 a0001c0001t0001g0256	5	268	0.0187	22	c.49- others(39): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18955.hp2 HG00621.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0115 a0001c0001t0002g0071 a0001c0001t0002g0115	2	268	0.0075	22	c.571 others(39): Show c.571-1213_571-1212insGTTTTTTTTTTTGTTTTTTTTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01517.hp2 others(14): Show HG00609.hp2 HG01192.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG02615.hp2 HG03041.hp2 HG03490.hp2 NA18961.hp2 NA18987.hp2 NA18992.hp2 NA18993.hp2 NA19004.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0002g0016 others(14): Show a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0002g0016 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0113	17	268	0.0634	22	c.571 others(39): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18983.hp2 NA18939.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	268	0.0075	22	c.571 others(39): Show c.571-1213_571-1192dupTTTTTTTTTTTTTTTTTTTTTT		PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD3_chr17_39975807_40002959	39992024	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01516.hp2 others(10): Show HG01070.hp2 HG01071.hp2 HG01516.hp2 NA18953.hp1 NA18960.hp2 NA18969.hp1 NA18975.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA19063.hp1 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 others(5): Show a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0104 a0001c0001t0002g0120	13	418	0.0311	22	c.981 others(39): Show c.981+1836_981+1837insAAAAAAAAAAAAAAAAAAAAAA		PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18978.hp2 NA19079.hp2 others(2): Show NA18977.hp1 NA18978.hp2 NA19079.hp2 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024	5	420	0.0119	22	c.-35 others(33): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAA		PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding					3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(15): Show TGTGTGTGCGCGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18966.hp2 NA18967.hp2 others(2): Show HG04184.hp1 NA18966.hp2 NA18967.hp2 NA18977.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0070	5	424	0.0118	22	c.703 others(37): Show c.703-166_703-165insGCGCGTGCGCGCGTGTGTGCGC		PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(15): Show TGTGTGTGTGCGCGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	424	0.0024	22	c.703 others(37): Show c.703-169_703-168insTGCGCGCGTGCGCGCGTGTGTG		PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
PSME1_chr14_24131194_24143962	24135105	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp2 others(2): Show HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01358.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0001 a0001c0002t0002g0004 a0001c0003t0002g0004 a0001c0001t0001g0001 a0001c0002t0002g0004 a0001c0003t0002g0004	5	418	0.0120	22	c.-11 others(33): Show c.-1158_-1157insACACACACACACACACACACAC		PSME1	ENSG00000092010.15	transcript	ENST00000206451.11	protein_coding					1088		chr14	TogoVar
PSME3_chr17_42828397_42848760	42848524	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	264	0.0038	22	c.69 others(33): Show c.6946_*6947insATATATATATATATATATATAT		PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding					4765		chr17	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01928.hp1 HG02004.hp1 others(15): Show HG01074.hp1 HG01928.hp1 HG02004.hp1 HG02683.hp2 HG02735.hp1 HG03139.hp1 HG03831.hp1 NA18522.hp1 NA18950.hp1 NA18954.hp2 NA18963.hp2 NA18964.hp1 NA19000.hp1 NA19009.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0009 a0004c0008 a0001c0005 a0001c0009 a0004c0008	a0001c0005t0001 a0001c0009t0001 a0004c0008t0001 a0001c0005t0001 a0001c0009t0001 a0004c0008t0001	a0001c0005t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0325 others(15): Show a0001c0005t0001g0311 a0001c0005t0001g0319 a0001c0005t0001g0325 a0001c0005t0001g0327 a0001c0005t0001g0330 a0001c0005t0001g0335 a0001c0005t0001g0338 a0001c0005t0001g0344 a0001c0005t0001g0352 a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0009t0001g0365 a0001c0009t0001g0366 a0001c0009t0001g0370 a0004c0008t0001g0376 a0004c0008t0001g0377 a0004c0008t0001g0379 a0004c0008t0001g0383	18	384	0.0469	22	c.481 others(39): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAA		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46						chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0301 a0003c0004t0001g0301	1	384	0.0026	22	c.958 others(37): Show c.958-637_958-616dupTTTTTTTTTTTTTTTTTTTTTT		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46						chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0148 a0001c0001t0044g0148	1	326	0.0031	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATATATATATAT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp2 HG02572.hp2 others(2): Show HG01106.hp2 HG01169.hp2 HG02572.hp2 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0012 others(1): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0012 a0001c0003t0064	a0001c0003t0001g0167 a0001c0003t0005g0175 a0001c0003t0005g0184 others(2): Show a0001c0003t0001g0167 a0001c0003t0005g0175 a0001c0003t0005g0184 a0001c0003t0012g0163 a0001c0003t0064g0187	5	326	0.0153	22	c.366 others(39): Show c.366-1565_366-1564insGTGTATATATATATATATATAT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02738.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG02738.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0116 a0001c0001t0006g0015 a0001c0001t0006g0192 a0001c0001t0003g0116 a0001c0001t0006g0015 a0001c0001t0006g0192	4	326	0.0123	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATATATATATTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 NA18991.hp1 others(2): Show HG02735.hp1 HG04115.hp2 NA18991.hp1 NA19000.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0058 a0001c0001t0001g0221 a0001c0001t0003g0057 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0221 a0001c0001t0003g0057 a0001c0001t0003g0121 a0001c0001t0006g0199	5	326	0.0153	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATATATATTTTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	326	0.0031	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATATATTTTTTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01167.hp2 others(11): Show HG00621.hp2 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG02109.hp1 HG02683.hp2 HG02717.hp1 HG03017.hp2 HG03239.hp2 HG06807.hp1 NA18964.hp1 NA19004.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0048	a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0004g0002 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0052 a0001c0001t0004g0002 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0046 a0001c0001t0004g0080 a0001c0001t0045g0081 a0001c0001t0048g0100	14	326	0.0429	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATATTTTTTTTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18522.hp1 NA19066.hp1 others(1): Show HG00323.hp2 NA18522.hp1 NA19066.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098	4	326	0.0123	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATATTTTTTTTTTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03710.hp1 NA20752.hp2 others(1): Show HG00140.hp2 HG03710.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0094 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	4	326	0.0123	22	c.366 others(39): Show c.366-1551_366-1550insATATATATATTTTTTTTTTTTT		PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
PSORS1C2_chr6_31132534_31144066	31140003	A A	AAAATTCC others(15): Show AAAATTCCAATTCAAGACCTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	461	0.0022	22	c.-97 others(31): Show c.-978_-977insCAAAGGTCTTGAATTGGAATTT		PSORS1C2	ENSG00000204538.4	transcript	ENST00000259845.5	protein_coding					938		chr6	TogoVar
PTBP2_chr1_96716784_96820049	96761346	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0254 a0001c0002t0005g0254	1	364	0.0028	22	c.116 others(39): Show c.116-8335_116-8314dupGTGTGTGTGTGTGTGTGTGTGT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(15): Show CTTTTTTTTGTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19012.hp1 NA18991.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0353 a0001c0002t0001g0263 a0001c0002t0001g0353	2	364	0.0055	22	c.904 others(39): Show c.904+6580_904+6581insGTTTTTTTTTTGTTTTTTTTTT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(15): Show CTTTTTTTTGTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02015.hp2 NA18979.hp1 HG01243.hp2 HG02015.hp2 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0329 a0001c0002t0001g0348 a0001c0002t0001g0302 a0001c0002t0001g0329 a0001c0002t0001g0348	3	364	0.0082	22	c.904 others(39): Show c.904+6580_904+6581insGTTTTTTTTTTTGTTTTTTTTT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791826	C C	CTTTTTTT others(15): Show CTTTTTTTTGTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0339 a0001c0002t0001g0339	1	364	0.0028	22	c.904 others(39): Show c.904+6580_904+6581insGTTTTTTTTTTTTGTTTTTTTT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18983.hp1 NA19003.hp2 HG02015.hp2 NA18983.hp1 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0277 a0001c0002t0001g0302 a0001c0002t0001g0303	3	364	0.0082	22	c.905 others(39): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTT		PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02109.hp1 HG03139.hp1 HG01070.hp2 HG02109.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0307 a0001c0001t0002g0232 a0001c0001t0012g0336 a0001c0001t0001g0307 a0001c0001t0002g0232 a0001c0001t0012g0336	3	342	0.0088	22	c.802 others(39): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTT		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0280 a0001c0001t0010g0280	1	342	0.0029	22	c.-52 others(41): Show c.-52+13178_-52+13179insATATATATATATATATTTTTTT		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03130.hp1 NA19004.hp1 HG00673.hp1 HG03130.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0001t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0321 a0001c0001t0010g0279 a0001c0002t0001g0243 a0001c0001t0001g0321 a0001c0001t0010g0279 a0001c0002t0001g0243	3	342	0.0088	22	c.-52 others(41): Show c.-52+13178_-52+13179insATATATATATATATATATTTTT		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	342	0.0029	22	c.-52 others(41): Show c.-52+13178_-52+13179insATATATATATATATATATATTT		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01943.hp2 HG01952.hp1 others(5): Show HG00558.hp1 HG01943.hp2 HG01952.hp1 HG02258.hp1 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0018 a0001c0001t0001 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0149 a0001c0001t0001g0252 a0001c0001t0001g0286 others(5): Show a0001c0001t0001g0149 a0001c0001t0001g0252 a0001c0001t0001g0286 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0329 a0001c0001t0008g0241 a0001c0001t0018g0330	8	342	0.0234	22	c.-52 others(41): Show c.-52+13155_-52+13156insAAAATATATATATATATATATA		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0276	1	342	0.0029	22	c.-52 others(41): Show c.-52+13155_-52+13156insAAAAAATATATATATATATATA		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	342	0.0029	22	c.-52 others(41): Show c.-52+13155_-52+13156insAAAAAAAATATATATATATATA		PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13						chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440655	C C	CGCATATA others(15): Show CGCATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0059 a0002c0004t0005g0059	1	380	0.0026	22	c.-19 others(33): Show c.-1991_-1990insATATATATATATATATATATGC		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1858		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18995.hp1 NA18947.hp2 NA18995.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0016 a0001c0002 a0006c0016	a0001c0002t0002 a0006c0016t0001 a0001c0002t0002 a0006c0016t0001	a0001c0002t0002g0182 a0006c0016t0001g0188 a0001c0002t0002g0182 a0006c0016t0001g0188	2	380	0.0053	22	c.-20 others(33): Show c.-2010_-2009insAAAAAAAATATATATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02071.hp1 HG04204.hp2 others(1): Show HG01496.hp1 HG02071.hp1 HG04204.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0191 others(1): Show a0001c0002t0002g0002 a0001c0002t0002g0037 a0001c0002t0002g0191 a0001c0002t0020g0189	4	380	0.0105	22	c.-20 others(33): Show c.-2010_-2009insAAAAAAAAAATATATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02523.hp1 NA18973.hp2 others(1): Show HG02074.hp1 HG02523.hp1 NA18973.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0183 a0001c0002t0002g0003 a0001c0002t0002g0009 a0001c0002t0002g0183	4	380	0.0105	22	c.-20 others(33): Show c.-2010_-2009insAAAAAAAAAAAATATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0174 a0001c0002t0015g0174	1	380	0.0026	22	c.-20 others(33): Show c.-2010_-2009insAAAAAAAAAAAAAATATATATA		PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding					1877		chr7	TogoVar
PTCH1_chr9_95437980_95514266	95452328	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0036 a0001c0003t0004g0036	1	284	0.0035	22	c.344 others(41): Show c.3449+1128_3449+1149dupGTGTGTGTGTGTGTGTGTGTGT		PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	20/23						chr9	TogoVar
PTCH1_chr9_95437980_95521971	95452328	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0170 a0001c0003t0003g0170	1	278	0.0036	22	c.344 others(41): Show c.3446+1128_3446+1149dupGTGTGTGTGTGTGTGTGTGTGT		PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	20/23						chr9	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp1 HG01243.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0218 a0001c0002t0001g0153 a0001c0002t0001g0218	2	370	0.0054	22	c.813 others(37): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTT		PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21						chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23394409	G G	GACACACA others(15): Show GACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19075.hp1 NA19088.hp1 NA19075.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0060 a0001c0001t0059 a0001c0001t0060	a0001c0001t0059g0191 a0001c0001t0060g0238 a0001c0001t0059g0191 a0001c0001t0060g0238	2	297	0.0067	22	c.24 others(31): Show c.245_*266dupACACACACACACACACACACAC		PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3				267	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(15): Show GAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	182	0.0055	22	c.899 others(39): Show c.899-2806_899-2805insATATATATATATATATATATCT		PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4						chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp2 HG01256.hp2 others(1): Show HG00738.hp2 HG01081.hp2 HG01256.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0056 a0001c0001t0074 a0001c0001t0025 a0001c0001t0056 a0001c0001t0074	a0001c0001t0025g0142 a0001c0001t0025g0147 a0001c0001t0056g0117 others(1): Show a0001c0001t0025g0142 a0001c0001t0025g0147 a0001c0001t0056g0117 a0001c0001t0074g0164	4	182	0.0220	22	c.899 others(39): Show c.899-2806_899-2805insATATATATATATATATATATAT		PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4						chr6	TogoVar
PTDSS2_chr11_445279_496399	471749	T T	TGGCCTGG others(15): Show TGGCCTGGGGAGACGCGGATGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0307 a0004c0007t0012g0307	1	346	0.0029	22	c.285 others(39): Show c.285-2137_285-2136insAGACGCGGATGGCGGCCTGGGG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	471967	A A	AGATGGCG others(15): Show AGATGGCGGCCTGGGGTGACGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00741.hp1 others(12): Show HG00099.hp1 HG00639.hp1 HG00741.hp1 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0005 a0002c0003t0006 a0001c0001t0006 a0002c0003t0005 a0002c0003t0006	a0001c0001t0006g0189 a0001c0001t0006g0190 a0002c0003t0005g0017 others(10): Show a0001c0001t0006g0189 a0001c0001t0006g0190 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0188 a0002c0003t0005g0191 a0002c0003t0005g0192 a0002c0003t0005g0193 a0002c0003t0005g0194 a0002c0003t0005g0195 a0002c0003t0005g0197 a0002c0003t0006g0196 a0002c0003t0006g0198	15	346	0.0434	22	c.285 others(39): Show c.285-1887_285-1866dupCGCGGATGGCGGCCTGGGGTGA		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	490811	C C	CGTGTGTG others(15): Show CGTGTGTGTACGCGTGTGTACGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0001t0010 a0001c0002t0010	a0001c0001t0010g0050 a0001c0002t0010g0208 a0001c0001t0010g0050 a0001c0002t0010g0208	2	346	0.0058	22	c.23 others(31): Show c.230_*231insTGTGTGTACGCGTGTGTACGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	12/12				231	INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	490811	C C	CGTGTGTG others(15): Show CGTGTGTGTACGCGTGTGTGCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01106.hp1 others(1): Show HG00733.hp1 HG01081.hp1 HG01106.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 others(1): Show a0002c0003t0008g0172 a0002c0003t0008g0173 a0002c0003t0008g0174 a0002c0003t0008g0175	4	346	0.0116	22	c.23 others(31): Show c.230_*231insTGTGTGTACGCGTGTGTGCGTG		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	12/12				231	INFO_REALIGN_3_PRIME	chr11	TogoVar
PTGER1_chr19_14467466_14480354	14472584	C C	CCTGGAGT others(15): Show CCTGGAGTGGCAGGCGCTGCAGG	frameshift_variant frameshift_variant	HIGH	HG02165.hp1 HG02165.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0007 a0004c0009t0007	a0004c0009t0007g0027 a0004c0009t0007g0027	1	408	0.0025	22	c.118 others(31): Show c.1184_1185insCCTGCAGCGCCTGCCACTCCAG	p.His others(5): Show p.His396fs	PTGER1	ENSG00000160951.4	transcript	ENST00000292513.4	protein_coding	3/3	1294/1413	1184/1209	395/402			chr19	TogoVar

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