JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
PARVB_chr22_44019302_44177939	44115750	C C	CTAAGGCC others(30): Show CTAAGGCCCTGCACCAACACAGATACATTGTTACTAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	37	c.274 others(54): Show c.274-3256_274-3255insCTAAGTAAGGCCCTGCACCAACACAGAT ACATTGTTA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115945	C C	CACCAACA others(30): Show CACCAACACAGATGCATTGTTACTAACTAAGGCCCTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02717.hp2 HG02886.hp1 others(3): Show HG00738.hp2 HG02717.hp2 HG02886.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0022 a0001c0001 a0001c0002 a0008c0022	a0001c0001t0009 a0001c0001t0042 a0001c0002t0003 others(2): Show a0001c0001t0009 a0001c0001t0042 a0001c0002t0003 a0001c0002t0021 a0008c0022t0072	a0001c0001t0009g0086 a0001c0001t0009g0193 a0001c0001t0042g0186 others(3): Show a0001c0001t0009g0086 a0001c0001t0009g0193 a0001c0001t0042g0186 a0001c0002t0003g0159 a0001c0002t0021g0074 a0008c0022t0072g0130	6	332	0.0181	37	c.274 others(54): Show c.274-3081_274-3080insGCATTGTTACTAACTAAGGCCCTGTACC AACACAGAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
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	a0005 a0006 a0008 others(5): Show a0005 a0006 a0008 a0012 a0018 a0023 a0033 a0063	a0005c0013 a0006c0014 a0008c0017 others(5): Show a0005c0013 a0006c0014 a0008c0017 a0012c0079 a0018c0010 a0023c0120 a0033c0132 a0063c0081	a0005c0013t0001 a0006c0014t0004 a0008c0017t0012 others(5): Show a0005c0013t0001 a0006c0014t0004 a0008c0017t0012 a0012c0079t0003 a0018c0010t0004 a0023c0120t0012 a0033c0132t0003 a0063c0081t0031	a0005c0013t0001g0103 a0006c0014t0004g0148 a0008c0017t0012g0022 others(5): Show a0005c0013t0001g0103 a0006c0014t0004g0148 a0008c0017t0012g0022 a0012c0079t0003g0149 a0018c0010t0004g0034 a0023c0120t0012g0061 a0033c0132t0003g0027 a0063c0081t0031g0040	8	158	0.0506	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	400	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	400	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	302	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	a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0158 a0001c0002t0001g0176	2	300	0.0067	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	292	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	a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 others(11): Show a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0003g0044 a0001c0001t0003g0056 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0004g0211 a0001c0001t0004g0213	14	292	0.0480	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	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(19): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0004t0002g0086 a0001c0004t0002g0087	22	292	0.0753	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	a0001c0001t0001g0138 a0001c0001t0001g0138	1	174	0.0058	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	a0001c0001t0002g0048 a0001c0001t0002g0048	1	154	0.0065	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	a0001c0001t0001g0055 a0001c0001t0002g0002 a0001c0001t0003g0101 a0001c0001t0001g0055 a0001c0001t0002g0002 a0001c0001t0003g0101	3	154	0.0195	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	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0013 a0028c0034t0013	a0028c0034t0013g0058 a0028c0034t0013g0058	1	102	0.0098	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	a0001c0001t0002g0102 a0001c0001t0002g0102	1	281	0.0036	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	a0001c0001t0007g0197 a0001c0001t0007g0197	1	214	0.0047	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	80	0.0125	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	a0001c0001t0006g0122 a0001c0001t0006g0122	1	401	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	a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0333 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0333	3	334	0.0090	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	352	0.0028	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	352	0.0028	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	352	0.0028	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	a0001c0001t0004g0253 a0001c0001t0005g0085 a0001c0006t0007g0077 a0001c0001t0004g0253 a0001c0001t0005g0085 a0001c0006t0007g0077	3	274	0.0110	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	a0001c0001t0002g0254 a0001c0001t0005g0073 a0001c0001t0005g0092 others(10): Show a0001c0001t0002g0254 a0001c0001t0005g0073 a0001c0001t0005g0092 a0001c0001t0007g0081 a0001c0001t0008g0216 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0196 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0018g0072 a0001c0001t0025g0217 a0001c0001t0035g0218	13	274	0.0475	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	274	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	372	0.0027	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	a0001c0002t0070 a0001c0002t0071 a0001c0002t0073 a0001c0002t0070 a0001c0002t0071 a0001c0002t0073	a0001c0002t0070g0182 a0001c0002t0071g0184 a0001c0002t0073g0183 a0001c0002t0070g0182 a0001c0002t0071g0184 a0001c0002t0073g0183	3	260	0.0115	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	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0124 a0001c0001t0051g0124	1	260	0.0039	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 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0028g0073 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0028g0073	3	260	0.0115	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 a0001c0001t0018 a0001c0001t0028 a0001c0001t0057	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0009g0115 a0001c0001t0018g0058 a0001c0001t0028g0128 a0001c0001t0057g0054	10	260	0.0385	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	a0001c0001t0001g0113 a0001c0001t0001g0113	1	260	0.0039	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	a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0066 a0001c0001t0003g0067	2	404	0.0050	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	332	0.0090	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	248	0.0040	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	a0001c0001t0001g0089 a0001c0004t0001g0064 a0001c0001t0001g0089 a0001c0004t0001g0064	2	344	0.0058	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 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0007 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0003c0007t0001 a0004c0012t0004	a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0167 others(35): Show a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0001g0286 a0001c0001t0002g0037 a0001c0001t0002g0120 a0001c0001t0002g0150 a0001c0001t0002g0291 a0001c0001t0006g0294 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0175 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0001g0303 a0001c0002t0001g0308 a0001c0002t0002g0292 a0001c0002t0002g0295 a0001c0002t0003g0028 a0001c0002t0007g0293 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0003g0026 a0001c0005t0001g0169 a0003c0007t0001g0172 a0004c0012t0004g0259	38	324	0.1173	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	a0001c0003t0001g0191 a0001c0003t0001g0191	1	324	0.0031	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	a0001c0003t0001g0061 a0001c0003t0001g0061	1	324	0.0031	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(83): 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 homoSapiens_chm13v2.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	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0047 others(83): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0155 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0004g0238 a0001c0001t0004g0306 a0001c0001t0007g0093 a0001c0001t0008g0297 a0001c0002t0001g0004 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0124 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0163 a0001c0002t0001g0218 a0001c0002t0001g0229 a0001c0002t0001g0250 a0001c0002t0001g0284 a0001c0002t0002g0031 a0001c0002t0002g0050 a0001c0002t0002g0084 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0128 a0001c0002t0002g0135 a0001c0002t0003g0016 a0001c0003t0001g0056 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0079 a0001c0003t0001g0083 a0001c0003t0001g0091 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0125 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0152 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0223 a0001c0003t0002g0060 a0001c0003t0002g0070 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0004t0001g0082 a0001c0006t0001g0153 a0001c0006t0001g0154 a0005c0011t0001g0094	86	324	0.2654	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	a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0003t0002g0130	4	324	0.0124	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	a0001c0001t0002g0151 a0001c0001t0002g0151	1	324	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	a0001c0003t0003g0026 a0001c0003t0003g0026	1	324	0.0031	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	a0001c0001t0003g0330 a0001c0001t0003g0330	1	400	0.0025	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(21): 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 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0007 a0015 a0023 a0028	a0001c0001 a0001c0016 a0004c0004 others(6): Show a0001c0001 a0001c0016 a0004c0004 a0005c0006 a0007c0009 a0007c0022 a0015c0059 a0023c0036 a0028c0028	a0001c0001t0001 a0001c0016t0001 a0004c0004t0001 others(6): Show a0001c0001t0001 a0001c0016t0001 a0004c0004t0001 a0005c0006t0001 a0007c0009t0001 a0007c0022t0001 a0015c0059t0001 a0023c0036t0001 a0028c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0115 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0016t0001g0001 a0001c0016t0001g0002 a0004c0004t0001g0016 a0004c0004t0001g0132 a0004c0004t0001g0134 a0005c0006t0001g0001 a0007c0009t0001g0159 a0007c0009t0001g0162 a0007c0009t0001g0163 a0007c0009t0001g0164 a0007c0009t0001g0166 a0007c0022t0001g0167 a0015c0059t0001g0131 a0023c0036t0001g0061 a0028c0028t0001g0016	24	436	0.0551	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	338	0.0030	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	a0001c0001t0001g0065 a0001c0001t0001g0065	1	334	0.0030	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	a0001c0001t0001g0017 a0001c0001t0001g0017	1	334	0.0030	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	a0001c0001t0001g0055 a0001c0001t0001g0055	1	416	0.0024	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	216	0.0046	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	216	0.0046	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

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