Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0283 a0001c0001t0020g0283	1	416	0.0024	50	c.635 others(65): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATATATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168579770	C C	CCCCCCCC others(43): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0332 a0001c0001t0051g0332	1	416	0.0024	50	c.-48 others(59): Show c.-488_-487insTGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGG	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding		403		chr5	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	372	0.0027	50	c.28- others(65): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0156 a0001c0001t0049g0156	1	372	0.0027	50	c.28- others(65): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGT G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0071 a0004c0005t0002g0071	1	372	0.0027	50	c.28- others(65): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT GTGTGTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(43): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0025 a0001c0001t0031g0025	1	372	0.0027	50	c.381 others(63): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3B_chr2_204540475_205625162	204998460	T T	TATATATG others(43): Show TATATATGTATATATATGTGTATATAATATATGTATATATATGTGTATAT A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0030 a0003c0010t0019g0030	1	54	0.0185	50	c.394 others(69): Show c.394+33138_394+33187dupATATATGTATATATATGTGTATATAA TATATGTATATATATGTGTATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380896	A A	ATATATAT others(43): Show ATATATATAATATATAAAGAATATATTATATATAATATATAAAGAATATA T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0047 a0002c0003t0003g0047	1	54	0.0185	50	c.263 others(71): Show c.2631-20092_2631-20091insTATATATAATATATAAAGAATATA TTATATATAATATATAAAGAATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34640708	C C	CAAAAAAA others(43): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0017 a0001c0002t0007g0017	1	100	0.0100	50	c.222 others(69): Show c.222+55609_222+55610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARP9_chr3_122522924_122569300	122539567	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0330 a0002c0001t0001g0330	1	436	0.0023	50	c.176 others(67): Show c.1765+904_1765+905insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10			chr3	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(43): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0044 a0001c0002t0004g0044	1	221	0.0045	50	c.-10 others(61): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGGCGGGGG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(43): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0047 a0047	a0047c0108 a0047c0108	a0047c0108t0001 a0047c0108t0001	a0047c0108t0001g0132 a0047c0108t0001g0132	1	158	0.0063	50	c.367 others(71): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125779866	G G	GGGGCGGC others(43): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGAC A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	294	0.0034	50	c.274 others(69): Show c.274+31276_274+31277insCACCTCCCTCCTGGACAGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125779882	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGC G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	294	0.0034	50	c.274 others(69): Show c.274+31286_274+31287insTGGACAGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCACCTCCCTCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125779892	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03927.hp1 HG02738.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0172 a0001c0001t0007g0130 a0001c0001t0002g0172 a0001c0001t0007g0130	2	294	0.0068	50	c.274 others(69): Show c.274+31286_274+31287insTGGACAGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCCA_chr13_100084093_100535435	100264196	C C	CGTATATA others(43): Show CGTATATATACGGTATCTGTATATCGTATATATACGGTATCTGTATATCG T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp1 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0002g0066 a0001c0001t0001g0146 a0001c0001t0002g0066	2	174	0.0115	50	c.819 others(67): Show c.819+1365_819+1366insGTATATATACGGTATCTGTATATCGTAT ATATACGGTATCTGTATATCGT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23			chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92331288	C C	CTTCTTCT others(43): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	154	0.0065	50	c.314 others(71): Show c.3145-56417_3145-56416insTTCTTCTTCTTCTTCTTCTTTTCT TCTTCTTCTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92331291	C C	CTTCTTCT others(43): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	154	0.0065	50	c.314 others(71): Show c.3145-56417_3145-56416insTTCTTCTTCTTCTTCTTCTTCTTT TCTTCTTCTTCTTCTTCTTCTTCTTC	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53888359	C C	CATATATA others(43): Show CATATATATACGTATATATATGTACGTACATATATATACGTATATATACA T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03209.hp2 HG01167.hp1 HG03209.hp2	a0017 a0026 a0017 a0026	a0017c0011 a0026c0033 a0017c0011 a0026c0033	a0017c0011t0012 a0026c0033t0017 a0017c0011t0012 a0026c0033t0017	a0017c0011t0012g0086 a0026c0033t0017g0023 a0017c0011t0012g0086 a0026c0033t0017g0023	2	102	0.0196	50	c.350 others(71): Show c.3501+14883_3501+14884insATGTATATATACGTATATATATGT ACGTACATATATATACGTATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54622704	A A	ATATATTA others(43): Show ATATATTATATATAATATATATTATATAATTATATATATATTATATATAA T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0057 a0004c0004t0005g0057	1	102	0.0098	50	c.91+ others(67): Show c.91+41418_91+41467dupATTATATATAATATATATATAATTATAT AATATATATTATATATAATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888359	C C	CATATATA others(43): Show CATATATATACGTATATATATGTACGTACATATATATACGTATATATACA T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0024 a0002c0029t0001g0024	1	94	0.0106	50	c.350 others(71): Show c.3501+14883_3501+14884insATGTATATATACGTATATATATGT ACGTACATATATATACGTATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54622704	A A	ATATATTA others(43): Show ATATATTATATATAATATATATTATATAATTATATATATATTATATATAA T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	94	0.0106	50	c.91+ others(67): Show c.91+41418_91+41467dupATTATATATAATATATATATAATTATAT AATATATATTATATATAATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	2/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	30974246	C C	CTTCCTTT others(43): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA19060.hp1 HG02109.hp1 NA18522.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0004t0001 a0001c0004t0007 a0001c0001t0014 a0001c0004t0001 a0001c0004t0007	a0001c0001t0014g0032 a0001c0004t0001g0015 a0001c0004t0007g0016 a0001c0001t0014g0032 a0001c0004t0001g0015 a0001c0004t0007g0016	3	214	0.0140	50	c.339 others(71): Show c.3391+53905_3391+53906insCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTC	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF5_chr10_91215663_91289337	91225220	T T	TGATATAT others(43): Show TGATATATATCATATATGTATATATGATATATATCGTATATATGTATATA C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	318	0.0031	50	c.112 others(67): Show c.112+2254_112+2303dupGTATATATGATATATATCGTATATATGT ATATACGATATATATCATATAT	PCGF5	ENSG00000180628.15	transcript	ENST00000336126.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCSK6_chr15_101298933_101494707	101311860	A A	ACCCCTCA others(43): Show ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTC C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02886.hp2 HG02280.hp2 HG02886.hp2	a0002 a0019 a0002 a0019	a0002c0008 a0019c0033 a0002c0008 a0019c0033	a0002c0008t0001 a0019c0033t0001 a0002c0008t0001 a0019c0033t0001	a0002c0008t0001g0020 a0019c0033t0001g0028 a0002c0008t0001g0020 a0019c0033t0001g0028	2	336	0.0060	50	c.269 others(69): Show c.2699+1515_2699+1516insGGACGATGGGGTGAGCTGTGAGGGGT GACGATGGGGTGGGCTGTGAGGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311963	A A	ACCCTCAC others(43): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA C	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20905.hp1 HG01106.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0281 a0001c0001t0001g0258 a0001c0001t0001g0281	2	336	0.0060	50	c.269 others(69): Show c.2699+1363_2699+1412dupGTGACGATGGGGTGGGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312084	G G	GTCACCCC others(43): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATC A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01975.hp2 HG02165.hp1 others(9): Show HG00621.hp2 HG01975.hp2 HG02165.hp1 NA18939.hp1 NA18941.hp2 NA18950.hp2 NA18969.hp2 NA18971.hp1 NA18986.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0010 a0014	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0003c0064 a0005c0069 a0010c0065 a0014c0050	a0001c0002t0004 a0001c0004t0004 a0001c0005t0004 others(5): Show a0001c0002t0004 a0001c0004t0004 a0001c0005t0004 a0001c0013t0004 a0003c0064t0004 a0005c0069t0004 a0010c0065t0004 a0014c0050t0004	a0001c0002t0004g0185 a0001c0002t0004g0240 a0001c0004t0004g0042 others(9): Show a0001c0002t0004g0185 a0001c0002t0004g0240 a0001c0004t0004g0042 a0001c0004t0004g0087 a0001c0004t0004g0131 a0001c0005t0004g0205 a0001c0005t0004g0219 a0001c0013t0004g0132 a0003c0064t0004g0317 a0005c0069t0004g0334 a0010c0065t0004g0322 a0014c0050t0004g0229	12	336	0.0357	50	c.269 others(69): Show c.2699+1291_2699+1292insTGATGGGGTGAGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312089	A A	ACCCTCAC others(43): Show ACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCA C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0018 a0002c0008t0001g0018	1	336	0.0030	50	c.269 others(69): Show c.2699+1286_2699+1287insGTGACGATGGGGTGAGCTGTGAGGGG TGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312185	G G	GTCACCCC others(43): Show GTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATC A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0110 a0001c0036t0001g0110	1	336	0.0030	50	c.269 others(69): Show c.2699+1190_2699+1191insTGATGGGGTGGGCTGTGAGGGGTGAC GATGGGGTGGGCTGTGAGGGGTGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATAAA A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0090 a0001c0001t0044g0090	1	260	0.0039	50	c.117 others(67): Show c.117+9479_117+9480insTTTTATATATATATATATATATATATAT ATATATATATATATATATATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT2_chr17_81895958_81916399	81904969	A A	AGAGAGCG others(43): Show AGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGGCAGGGTAAGTCTAGC G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	300	0.0033	50	c.105 others(65): Show c.1059-26_1059-25insCGCTAGACTTACCCTGCCCTCCCCCTCGGA GCCGCCTCATGGGCGCTCTC	PCYT2	ENSG00000185813.11	transcript	ENST00000538936.7	protein_coding	12/12			chr17	TogoVar
PDCD1_chr2_241844884_241863894	241847811	C C	CGCGCTGC others(43): Show CGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGATGCTGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp1 others(5): Show HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02615.hp2 HG02818.hp2 HG02897.hp1 HG03098.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0011 a0001c0001 a0001c0009 a0001c0011	a0001c0001t0006 a0001c0001t0007 a0001c0009t0015 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0009t0015 a0001c0011t0001	a0001c0001t0006g0065 a0001c0001t0007g0037 a0001c0001t0007g0063 others(4): Show a0001c0001t0006g0065 a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 a0001c0001t0007g0098 a0001c0009t0015g0102 a0001c0011t0001g0092	8	407	0.0197	50	c.32 others(61): Show c.3246_*3247insACCAGCATCCAGAACTCAAGGCTCTCAAACACCC ATTCACAGCGCAGCGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		2072		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848214	G G	GCCGCGCT others(43): Show GCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGACGCTGGTGC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0007 a0005c0014 a0002c0003 a0004c0007 a0005c0014	a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 others(3): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0004c0007t0002 a0005c0014t0002	a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 a0002c0003t0002g0041 a0002c0003t0002g0109 a0002c0003t0002g0111 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0121 a0002c0003t0002g0122 a0002c0003t0004g0110 a0002c0003t0004g0118 a0002c0003t0012g0117 a0002c0003t0014g0112 a0004c0007t0002g0115 a0005c0014t0002g0124	91	407	0.2236	50	c.28 others(61): Show c.2843_*2844insTGCACCAGCGTCCAGAACTCACGTCTCTCATTCA TCCACTGACAGCGCGG	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1669		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848305	T T	TGCTGGCG others(43): Show TGCTGGCGCGCTGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	407	0.0025	50	c.27 others(61): Show c.2752_*2753insGTCCAGAACTCACGTCTCTCATTCATCCACTGAC AGCGCAGCGCGCCAGC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1578		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848534	T T	TTGAGAGC others(43): Show TTGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTCAATGGATGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0007 a0005c0014 a0002c0003 a0004c0007 a0005c0014	a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 others(3): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0004c0007t0002 a0005c0014t0002	a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 a0002c0003t0002g0041 a0002c0003t0002g0109 a0002c0003t0002g0111 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0121 a0002c0003t0002g0122 a0002c0003t0004g0110 a0002c0003t0004g0118 a0002c0003t0012g0117 a0002c0003t0014g0112 a0004c0007t0002g0115 a0005c0014t0002g0124	91	407	0.2236	50	c.25 others(61): Show c.2523_*2524insTTCATCCATTGACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1349		chr2	TogoVar
PDCD1_chr2_241844884_241863894	241848734	A A	ATGAGAGC others(43): Show ATGAGAGCCTTGAGTTCTGGATGCTGGCGCGCTGCGCTGTGAATGGGTGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp1 others(88): Show HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19001.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0003 a0004c0007 a0005c0014 a0002c0003 a0004c0007 a0005c0014	a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 others(3): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0003t0014 a0004c0007t0002 a0005c0014t0002	a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 others(15): Show a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0017 a0002c0003t0002g0041 a0002c0003t0002g0109 a0002c0003t0002g0111 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0119 a0002c0003t0002g0120 a0002c0003t0002g0121 a0002c0003t0002g0122 a0002c0003t0004g0110 a0002c0003t0004g0118 a0002c0003t0012g0117 a0002c0003t0014g0112 a0004c0007t0002g0115 a0005c0014t0002g0124	91	407	0.2236	50	c.23 others(61): Show c.2323_*2324insAACACCCATTCACAGCGCAGCGCGCCAGCATCCA GAACTCAAGGCTCTCA	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1149		chr2	TogoVar
PDCD2L_chr19_34399399_34431168	34413046	A A	ATTTTTTT others(43): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	382	0.0026	50	c.687 others(65): Show c.687-682_687-681insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	PDCD2L	ENSG00000126249.8	transcript	ENST00000246535.4	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PDE10A_chr6_165322289_165668241	165619494	G G	GTAGTGTA others(43): Show GTAGTGTAGTCTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTGTAGT C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp1 others(16): Show HG00639.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp1 NA18951.hp2 NA18989.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0007c0017 a0008c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0012 a0001c0022t0006 a0007c0017t0003 a0008c0016t0001	a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0003g0009 others(16): Show a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0003g0009 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0117 a0001c0001t0010g0157 a0001c0001t0019g0092 a0001c0002t0001g0046 a0001c0002t0001g0121 a0001c0002t0001g0168 a0001c0002t0004g0049 a0001c0003t0001g0105 a0001c0003t0001g0138 a0001c0003t0003g0104 a0001c0004t0012g0067 a0001c0022t0006g0098 a0007c0017t0003g0002 a0008c0016t0001g0001	19	222	0.0856	50	c.865 others(69): Show c.865+42452_865+42453insGACTACACTACACTAGACTACACTAC ACTAGACTACACTAGACTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(43): Show CATATATATATATATATATACATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0210 a0004c0006t0009g0210	1	264	0.0038	50	c.54- others(63): Show c.54-465_54-464insATATATATATATATATATATATATATATATGT ATATATATATATATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE6B_chr4_620573_675782	651085	T T	TGTCACAG others(43): Show TGTCACAGGCGGGGCAGGGGCTGAGGTGGCGATGTCAACAGCAGTGGGGC C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01891.hp1 HG02109.hp1 others(5): Show HG00733.hp2 HG01891.hp1 HG02109.hp1 HG02622.hp1 HG03486.hp1 HG03710.hp2 NA18522.hp1 NA20905.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0009 a0012c0026 a0001c0001 a0001c0009 a0012c0026	a0001c0001t0002 a0001c0001t0005 a0001c0009t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0009t0009 a0012c0026t0002	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0259 others(5): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0259 a0001c0001t0005g0265 a0001c0009t0009g0050 a0001c0009t0009g0263 a0001c0009t0009g0264 a0012c0026t0002g0170	8	308	0.0260	50	c.712 others(67): Show c.712-2757_712-2708dupGGGGCAGGGGCTGAGGTGGCGATGTCAA CAGCAGTGGGGCCGTCACAGGC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	651173	A A	AGCAGTGG others(43): Show AGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03704.hp1 others(3): Show HG02630.hp1 HG02922.hp1 HG03704.hp1 NA18950.hp2 NA18955.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0001t0003 a0001c0025t0001 a0001c0001t0001 a0001c0001t0003 a0001c0025t0001	a0001c0001t0001g0005 a0001c0001t0003g0007 a0001c0001t0003g0063 others(2): Show a0001c0001t0001g0005 a0001c0001t0003g0007 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0025t0001g0005	6	308	0.0195	50	c.712 others(67): Show c.712-2629_712-2580dupGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE9A_chr21_42648621_42780509	42778082	C C	CCCCTCCT others(43): Show CCCCTCCTGTGTCACCTGTCATGTCTCAGACTTTGACCGCCTCCCGCAGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	324	0.0031	50	c.27 others(61): Show c.2789_*2790insCCCTCCTGTGTCACCTGTCATGTCTCAGACTTTG ACCGCCTCCCGCAGCT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		2574		chr21	TogoVar
PDE9A_chr21_42648621_42780509	42778563	G G	GCCCCCCG others(43): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02630.hp1 HG01975.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0002t0001g0048 a0001c0001t0001g0263 a0001c0002t0001g0048	2	324	0.0062	50	c.32 others(61): Show c.3270_*3271insCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGG AGGTGGGGGGGTCAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		3055		chr21	TogoVar
PDGFD_chr11_103902189_104169147	103985166	A A	AATATATT others(43): Show AATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAA T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	200	0.0050	50	c.510 others(69): Show c.510+10898_510+10899insATTATATATTAAATAAATTAATATAT TATATATTAAATAAATTAATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104084787	A A	ATATAAAA others(43): Show ATATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAGTA T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03209.hp2 others(2): Show HG02630.hp1 HG02723.hp1 HG03209.hp2 HG03516.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005	a0001c0001t0003g0146 a0001c0002t0001g0006 a0001c0002t0001g0144 others(2): Show a0001c0001t0003g0146 a0001c0002t0001g0006 a0001c0002t0001g0144 a0001c0002t0004g0096 a0001c0002t0005g0094	5	200	0.0250	50	c.124 others(69): Show c.124+79016_124+79017insATACTTATAAAATATATATTTTATAA TACTTATAAAATATATATTTTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDHX_chr11_34911618_35001128	34996927	T T	TTAGAGAC others(43): Show TTAGAGACAGGGTCTTGCCATGTTGCTCAGGCTGGTCCCAAACTCCTGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0191 a0001c0002t0014g0191	1	314	0.0032	50	c.17 others(61): Show c.1755_*1756insTAGAGACAGGGTCTTGCCATGTTGCTCAGGCTGG TCCCAAACTCCTGGGC	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding		800		chr11	TogoVar
PDIA2_chr16_278164_292215	286051	C C	CCCCGCGG others(43): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCAACCCCGCGGTTC T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02280.hp1 others(4): Show HG01891.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02965.hp2 HG03471.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0021 a0009c0010t0001g0029 a0009c0010t0001g0063 others(1): Show a0009c0010t0001g0021 a0009c0010t0001g0029 a0009c0010t0001g0063 a0009c0010t0001g0064	7	436	0.0161	50	c.112 others(67): Show c.1120-301_1120-300insCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCAACCCCGCGGTTCTC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDPN_chr1_13578832_13622957	13588980	A A	AGCTACTA others(43): Show AGCTACTATTCAATAAATTGAATAGTGCTACTATTCAATAAATTGAATAG T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02109.hp2 HG02257.hp1 others(9): Show HG00642.hp2 HG02109.hp2 HG02257.hp1 HG02615.hp1 HG02647.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0035 a0001c0001t0040 a0001c0001t0056	a0001c0001t0003g0178 a0001c0001t0005g0012 a0001c0001t0010g0152 others(7): Show a0001c0001t0003g0178 a0001c0001t0005g0012 a0001c0001t0010g0152 a0001c0001t0015g0011 a0001c0001t0015g0151 a0001c0001t0017g0180 a0001c0001t0019g0179 a0001c0001t0035g0181 a0001c0001t0040g0147 a0001c0001t0056g0316	12	446	0.0269	50	c.67+ others(65): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAATAAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	334	0.0030	50	c.313 others(67): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	334	0.0030	50	c.313 others(67): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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