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
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01123.hp1 others(5): Show HG00140.hp1 HG00642.hp2 HG01123.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG03710.hp2 HG04204.hp2	a0006 a0007 a0008 others(5): Show a0006 a0007 a0008 a0011 a0015 a0016 a0033 a0035	a0006c0017 a0007c0013 a0008c0014 others(5): Show a0006c0017 a0007c0013 a0008c0014 a0011c0079 a0015c0010 a0016c0120 a0033c0132 a0035c0081	a0006c0017t0001 a0007c0013t0002 a0008c0014t0001 others(5): Show a0006c0017t0001 a0007c0013t0002 a0008c0014t0001 a0011c0079t0001 a0015c0010t0001 a0016c0120t0001 a0033c0132t0001 a0035c0081t0018	a0006c0017t0001g0029 a0007c0013t0002g0061 a0008c0014t0001g0148 others(5): Show a0006c0017t0001g0029 a0007c0013t0002g0061 a0008c0014t0001g0148 a0011c0079t0001g0149 a0015c0010t0001g0087 a0016c0120t0001g0113 a0033c0132t0001g0070 a0035c0081t0018g0092	8	12	0.6667	37	c.313 others(56): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21721283	A A	AATGTATA others(30): Show AATGTATATAATATATATGTAATACATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	397	0.0025	37	c.67 others(48): Show c.6721_*6722insATGTATATAATATATATGTAATACATATATATTA TAT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2803		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721494	A A	AATATATA others(30): Show AATATATATGTAATGTATATAATATATATGTAATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	398	0.0025	37	c.69 others(48): Show c.6932_*6933insATATATATGTAATGTATATAATATATATGTAATA CAT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3014		chr20	TogoVar
PAX7_chr1_18625846_18753866	18738031	A A	AATAGGGG others(30): Show AATAGGGGTGAGTGTATGAGTGTATGTTTGAGTATGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0005 a0001c0002t0032g0005	1	300	0.0033	37	c.140 others(56): Show c.1402+2159_1402+2195dupGGTGAGTGTATGAGTGTATGTTTGAG TATGTCATAGG	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18957.hp2 HG00673.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0150 a0001c0002t0001g0125 a0001c0002t0001g0150	2	110	0.0182	37	c.108 others(56): Show c.1088-1943_1088-1942insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PCBP3_chr21_45638725_45947450	45822638	G G	GGCACGGG others(30): Show GGCACGGGACAGGGTTAGGAGAGCGAGGGGCGGACCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	290	0.0034	37	c.-12 others(58): Show c.-125-27320_-125-27319insCGGGACAGGGTTAGGAGAGCGAGG GGCGGACCCAGCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45822642	T T	TGGGACAG others(30): Show TGGGACAGGGTTAGGAGAGCGAGGGGCGGACCCAGCAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02615.hp1 others(11): Show HG01243.hp1 HG02257.hp1 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 others(11): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0030 a0001c0001t0003g0042 a0001c0001t0003g0078 a0001c0001t0003g0102 a0001c0001t0004g0211 a0001c0001t0004g0213	14	289	0.0484	37	c.-12 others(58): Show c.-125-27301_-125-27300insCGAGGGGCGGACCCAGCAGGGGAC AGGGTTAGGAGAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45901656	C C	CAGAGAGA others(30): Show CAGAGAGAGAGAGGAAGACAGAGAGAGACAGAGAGATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG01168.hp1 others(19): Show HG00280.hp1 HG01167.hp2 HG01168.hp1 HG01975.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp2 HG02572.hp2 HG02886.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03710.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 others(19): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0004t0002g0087 a0001c0004t0002g0088	22	290	0.0759	37	c.339 others(52): Show c.339+571_339+607dupCAGAGAGATGAGAGAGAGAGAGGAAGACAG AGAGAGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100348916	T T	TTCCTTTC others(30): Show TTCCTTTCTTTCTTTTCTTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	114	0.0088	37	c.164 others(56): Show c.1643+8658_1643+8659insCCTTTCTTTCTTTTCTTTCTTTCCTT CCTTCCTTCCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH11X_chrX_91774375_92628230	92375166	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	19	0.0526	37	c.314 others(58): Show c.3145-12568_3145-12567insATATATATATATATATATATATAT ATATATTTTTTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	8/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92411956	A A	AGGAGGAG others(30): Show AGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18944.hp1 NA18960.hp1 HG02074.hp1 NA18944.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0116 a0001c0001t0002g0002 a0001c0001t0003g0100 a0001c0001t0001g0116 a0001c0001t0002g0002 a0001c0001t0003g0100	3	7	0.4286	37	c.334 others(58): Show c.3343+24031_3343+24032insGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGG	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53888702	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0023 a0023	a0023c0034 a0023c0034	a0023c0034t0013 a0023c0034t0013	a0023c0034t0013g0055 a0023c0034t0013g0055	1	58	0.0172	37	c.350 others(58): Show c.3501+14540_3501+14541insTATATATATATATATATATATATA TATATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH19_chrX_100286644_100415273	100322865	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	180	0.0056	37	c.284 others(58): Show c.2848+19037_2848+19038insAAAAAAAAAAATATATATATATAT ATATATATATATA	PCDH19	ENSG00000165194.15	transcript	ENST00000373034.8	protein_coding	5/5			chrX	TogoVar
PCDH7_chr4_30715369_31151800	31074784	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	40	0.0250	37	c.339 others(58): Show c.3392-67666_3392-67665insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	67059370	G G	GTATATAT others(30): Show GTATATATATATATATAGTATATAGTATATATAGTGTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	48	0.0208	37	c.303 others(60): Show c.3037-155766_3037-155765insTACACTATATATACTATATACT ATATATATATATATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4			chr13	TogoVar
PCGF2_chr17_38728898_38753336	38743795	C C	CCCAGGCC others(30): Show CCCAGGCCGCGAATTCCTGATACCCAGTTCCTCCCCCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	400	0.0025	37	c.-40 others(54): Show c.-40-3390_-40-3354dupCGGGGGAGGAACTGGGTATCAGGAATTC GCGGCCTGG	PCGF2	ENSG00000277258.5	transcript	ENST00000620225.5	protein_coding	2/10			chr17	TogoVar
PCMT1_chr6_149744741_149816419	149762862	T T	TATATATA others(30): Show TATATATATCTATGATATATATGTTATATATATCTATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 NA20129.hp1 HG01243.hp2 HG02647.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0332 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0332	3	331	0.0091	37	c.56- others(52): Show c.56-8278_56-8242dupGTTATATATATCTATGATATATATCTATGA TATATAT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCNX1_chr14_70902459_71120382	70910064	C C	CCCCTCCT others(30): Show CCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0157	1	257	0.0039	37	c.153 others(54): Show c.153+2063_153+2064insCTCCTCCCCCTCCTCCCCCTCCTCCTCC TCCCCCTCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70910148	T T	TCCCCCTC others(30): Show TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	327	0.0031	37	c.153 others(54): Show c.153+2147_153+2148insCCCTCCTCCCCCTCCTCCCCCTCCTCCC CCTCCTCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	71119428	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0325 a0001c0002t0003g0325	1	2	0.5000	37	c.94 others(48): Show c.9493_*9494insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding		4047		chr14	TogoVar
PCSK2_chr20_17222040_17489578	17303437	A A	AATATAAT others(30): Show AATATAATATATATTATATTAAATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp2 HG02451.hp2 HG01978.hp2 HG02257.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0005 a0001c0006t0007 a0001c0001t0004 a0001c0001t0005 a0001c0006t0007	a0001c0001t0004g0252 a0001c0001t0005g0089 a0001c0006t0007g0076 a0001c0001t0004g0252 a0001c0001t0005g0089 a0001c0006t0007g0076	3	259	0.0116	37	c.282 others(56): Show c.282+43113_282+43149dupAAATATAATATATATTATATATAATA TATATTATATT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17303437	A A	AATATAAT others(30): Show AATATAATATATATTATATTTAATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp2 others(10): Show HG00140.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG02148.hp1 HG02602.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0025 a0001c0001t0035	a0001c0001t0002g0253 a0001c0001t0005g0074 a0001c0001t0005g0092 others(10): Show a0001c0001t0002g0253 a0001c0001t0005g0074 a0001c0001t0005g0092 a0001c0001t0007g0080 a0001c0001t0008g0215 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0195 a0001c0001t0009g0250 a0001c0001t0009g0251 a0001c0001t0018g0073 a0001c0001t0025g0216 a0001c0001t0035g0218	13	269	0.0483	37	c.282 others(56): Show c.282+43112_282+43113insTAATATAATATATATTATATATAATA TATATTATATT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17303494	T T	TAATATAA others(30): Show TAATATAATATATATTATATATAATATATATTATATTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0091 a0001c0001t0016g0091	1	272	0.0037	37	c.282 others(56): Show c.282+43177_282+43178insTATTATATTAAATATAATATATATTA TATATAATATA	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(30): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	272	0.0037	37	c.13 others(48): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02145.hp1 HG02257.hp2 HG01074.hp1 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0069 a0001c0002t0071 a0001c0002t0068 a0001c0002t0069 a0001c0002t0071	a0001c0002t0068g0184 a0001c0002t0069g0186 a0001c0002t0071g0185 a0001c0002t0068g0184 a0001c0002t0069g0186 a0001c0002t0071g0185	3	121	0.0248	37	c.117 others(54): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT TTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0119 a0001c0001t0048g0119	1	119	0.0084	37	c.117 others(54): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02040.hp1 NA19240.hp2 HG01099.hp1 HG02040.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0029g0068 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0029g0068	3	121	0.0248	37	c.117 others(54): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG01928.hp1 others(7): Show HG00642.hp1 HG01346.hp1 HG01928.hp1 HG01993.hp1 HG02630.hp1 HG03834.hp2 NA18960.hp1 NA18998.hp2 NA19058.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0029 a0001c0001t0054	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0009g0110 a0001c0001t0021g0053 a0001c0001t0029g0125 a0001c0001t0054g0049	10	128	0.0781	37	c.117 others(54): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	119	0.0084	37	c.117 others(54): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATATA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATGCATGCAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG02809.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0071 a0001c0001t0003g0009 a0001c0001t0003g0071	2	282	0.0071	37	c.-25 others(54): Show c.-25+5064_-25+5065insATGCATGCATATATATATATATATATAT ATATTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE3B_chr11_14638804_14877044	14758759	A A	ATTTGACT others(30): Show ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03540.hp2 HG03041.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0053 a0001c0001t0001g0262 a0001c0001t0010g0204 a0001c0001t0001g0053 a0001c0001t0001g0262 a0001c0001t0010g0204	3	330	0.0091	37	c.979 others(56): Show c.979-13177_979-13176insTTGACTTCCTCTTTTCCTAATTGAAT ACCCTTTATTT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE7A_chr8_65709334_65847064	65798206	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0054 a0001c0001t0046g0054	1	87	0.0115	37	c.139 others(56): Show c.139-15364_139-15363insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	PDE7A	ENSG00000205268.11	transcript	ENST00000401827.8	protein_coding	1/12			chr8	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03492.hp1 HG03209.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0090 a0001c0004t0001g0065 a0001c0001t0001g0090 a0001c0004t0001g0065	2	66	0.0303	37	c.173 others(56): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE9A_chr21_42648621_42780509	42689893	T T	TTGAGGAT others(30): Show TTGAGGATACAGGAGAAGAAGATGGAGACACACGCGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG01884.hp2 others(35): Show HG01243.hp2 HG01257.hp2 HG01884.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18974.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0007 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0002c0007t0001 a0004c0012t0004	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0038 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0232 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0305 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0114 a0001c0001t0002g0141 a0001c0001t0006g0012 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0223 a0001c0002t0001g0235 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0003g0299 a0001c0002t0007g0011 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0003g0296 a0001c0005t0001g0163 a0002c0007t0001g0166 a0004c0012t0004g0252	38	293	0.1297	37	c.218 others(54): Show c.218+1911_218+1912insAGAAGAAGATGGAGACACACGCGGATGA GGATACAGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42689893	T T	TTGAGGAT others(30): Show TTGAGGATACAGGCGAAGAAGATGGAGACACACGCGGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0184 a0001c0003t0001g0184	1	256	0.0039	37	c.218 others(54): Show c.218+1949_218+1985dupCGAAGAAGATGGAGACACACGCGGATGA GGATACAGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42690053	A A	ATGGAGAA others(30): Show ATGGAGAAGATGGAGGTAGACACGGGTGAGGATACAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	229	0.0044	37	c.218 others(54): Show c.218+2079_218+2080insACGGGTGAGGATACAGGTGGAGAAGATG GAGGTAGAC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42690053	A A	ATGGAGAA others(30): Show ATGGAGAAGATGGAGGTAGACGCGGGTGAGGATACAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(82): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19068.hp1 NA19074.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0005c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0041 others(82): Show a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0146 a0001c0001t0003g0280 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0004g0024 a0001c0001t0004g0231 a0001c0001t0007g0088 a0001c0001t0008g0015 a0001c0002t0001g0006 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0122 a0001c0002t0001g0139 a0001c0002t0001g0157 a0001c0002t0001g0211 a0001c0002t0001g0222 a0001c0002t0001g0243 a0001c0002t0001g0303 a0001c0002t0002g0007 a0001c0002t0002g0044 a0001c0002t0002g0079 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0119 a0001c0002t0002g0126 a0001c0002t0003g0287 a0001c0003t0001g0050 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0073 a0001c0003t0001g0078 a0001c0003t0001g0086 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0116 a0001c0003t0001g0125 a0001c0003t0001g0135 a0001c0003t0001g0140 a0001c0003t0001g0143 a0001c0003t0001g0151 a0001c0003t0001g0176 a0001c0003t0001g0208 a0001c0003t0001g0210 a0001c0003t0001g0216 a0001c0003t0002g0054 a0001c0003t0002g0065 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0003g0286 a0001c0003t0003g0288 a0001c0004t0001g0077 a0001c0006t0001g0144 a0001c0006t0001g0145 a0005c0011t0001g0089	85	313	0.2716	37	c.218 others(54): Show c.218+2121_218+2157dupGTGAGGATACAGGTGGAGAAGATGGAGG TAGACGCGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42690053	A A	ATGGAGAA others(30): Show ATGGAGAAGGTGGAGGTAGACGCGGGTGAGGATACAGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 NA18946.hp2 others(1): Show HG02027.hp1 HG02523.hp2 NA18946.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0003t0002g0121	4	232	0.0172	37	c.218 others(54): Show c.218+2067_218+2068insGTGGAGGTAGACGCGGGTGAGGATACAG GTGGAGAAG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42690251	G G	GGTTAGAC others(30): Show GGTTAGACGCGGATGAGGACACAGGTGGAGAAGAGGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	322	0.0031	37	c.218 others(54): Show c.218+2292_218+2293insTAGTTAGACGCGGATGAGGACACAGGTG GAGAAGAGG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0296 a0001c0003t0003g0296	1	81	0.0123	37	c.263 others(54): Show c.263-5145_263-5144insATATATATATATATATATATATTTTTTT TTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(30): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	11	0.0909	37	c.-17 others(46): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDIA2_chr16_278164_292215	281284	G G	GGAGGGCC others(30): Show GGAGGGCCCTAGAGGGTCAGTAGGCTTGGGGGGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00642.hp1 others(20): Show HG00323.hp1 HG00558.hp2 HG00642.hp1 HG01074.hp2 HG01106.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG03490.hp2 HG03710.hp1 NA18906.hp2 NA18947.hp2 NA18956.hp1 NA18975.hp2 NA18987.hp2 NA19043.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp1	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0013 a0018 a0020	a0001c0001 a0001c0016 a0004c0004 others(5): Show a0001c0001 a0001c0016 a0004c0004 a0008c0009 a0008c0022 a0013c0059 a0018c0036 a0020c0028	a0001c0001t0001 a0001c0016t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0001c0016t0001 a0004c0004t0001 a0008c0009t0001 a0008c0022t0001 a0013c0059t0001 a0018c0036t0001 a0020c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0040 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0016t0001g0001 a0004c0004t0001g0012 a0004c0004t0001g0074 a0004c0004t0001g0096 a0008c0009t0001g0015 a0008c0009t0001g0118 a0008c0009t0001g0120 a0008c0022t0001g0015 a0013c0059t0001g0073 a0018c0036t0001g0052 a0020c0028t0001g0012	23	417	0.0552	37	c.-18 others(48): Show c.-1886_-1885insGAGGGCCCTAGAGGGTCAGTAGGCTTGGGGGGCC GCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		1879		chr16	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0245 a0002c0003t0003g0245	1	87	0.0115	37	c.533 others(54): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	117	0.0085	37	c.313 others(54): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATTTTTTTT	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(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	117	0.0085	37	c.313 others(54): Show c.313-2864_313-2863insATATATATATATATATATTTTTTTTTTT TTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	126	0.0079	37	c.-46 others(48): Show c.-4633_-4632insATATATATATATATATATATATATATATATATAT ATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0013 a0003c0004t0012g0013	1	30	0.0333	37	c.-36 others(58): Show c.-361+49917_-361+49918insATATATATATATATATATATATTT TTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0030 a0010c0039t0030	a0010c0039t0030g0216 a0010c0039t0030g0216	1	30	0.0333	37	c.-36 others(58): Show c.-361+49917_-361+49918insATATATATATATATATATATTTTT TTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(30): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0024 a0024	a0024c0049 a0024c0049	a0024c0049t0008 a0024c0049t0008	a0024c0049t0008g0044 a0024c0049t0008g0044	1	30	0.0333	37	c.-36 others(58): Show c.-361+49917_-361+49918insATATATATATATATTTTTTTTTTT TTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PELP1_chr17_4664774_4709137	4668101	A A	ATTTATAA others(30): Show ATTTATAAAATTTATAAATATATAAAATTTATAAATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01943.hp1 HG02027.hp1 others(26): Show HG00544.hp2 HG01943.hp1 HG02027.hp1 HG02056.hp1 HG02129.hp1 HG02155.hp2 HG02683.hp1 HG02717.hp2 HG04228.hp1 NA18612.hp2 NA18941.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18968.hp1 NA19000.hp1 NA19006.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp2	a0001 a0013 a0015 a0001 a0013 a0015	a0001c0001 a0001c0032 a0013c0027 others(1): Show a0001c0001 a0001c0032 a0013c0027 a0015c0024	a0001c0001t0002 a0001c0032t0002 a0013c0027t0002 others(1): Show a0001c0001t0002 a0001c0032t0002 a0013c0027t0002 a0015c0024t0002	a0001c0001t0002g0163 a0001c0001t0002g0183 a0001c0001t0002g0246 others(26): Show a0001c0001t0002g0163 a0001c0001t0002g0183 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0032t0002g0266 a0013c0027t0002g0254 a0015c0024t0002g0258	29	314	0.0924	37	c.33 others(48): Show c.3337_*3338insAAATTTATAAATTTTATATATTTATAAATTTTAT AAA	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding		1672		chr17	TogoVar

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