Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
PIK3R1_chr5_68210756_68306821	68262946	G G	GATACATG others(11): Show GATACATGTAGATACATGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0015 a0001c0001t0120g0015	1	308	0.0033	18	c.335 others(37): Show c.335-10437_335-10420dupGTAGATACATGTATACAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68293859	T T	TAAAAAAT others(11): Show TAAAAAATAAGAGTTCTAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0077 a0001c0001t0123g0077	1	308	0.0033	18	c.142 others(33): Show c.1425+27_1425+44dupAAAAATAAGAGTTCTAAA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R2_chr19_18148163_18175532	18159144	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG06807.hp2 NA18979.hp2 others(2): Show HG01109.hp2 HG06807.hp2 NA18979.hp2 NA18983.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0045 a0001c0001t0001g0168 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0018g0045	5	334	0.0150	18	c.323 others(35): Show c.323-1325_323-1308dupTTTTTTTTTTTTTTTTTT	PIK3R2	ENSG00000105647.19	transcript	ENST00000222254.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIK3R3_chr1_46035140_46137629	46071712	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	318	0.0031	18	c.315 others(35): Show c.315-4622_315-4621insATATATATATTTTTTTTT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIK3R5_chr17_8873916_8970707	8942963	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02809.hp1 others(1): Show HG02145.hp2 HG02280.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0252 a0001c0003t0001g0253 others(1): Show a0001c0003t0001g0176 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254	4	298	0.0134	18	c.-14 others(37): Show c.-14+22615_-14+22632dupGTGTGTGTGTGTGTGTGT	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18			chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8965001	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0268 a0001c0003t0001g0268	1	298	0.0034	18	c.-14 others(33): Show c.-14+577_-14+594dupTGTGTGTGTGTGTGTGTG	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18			chr17	TogoVar
PIKFYVE_chr2_208261255_208363746	208348599	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp1 HG01257.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0131 a0001c0001t0001g0141	2	288	0.0069	18	c.537 others(35): Show c.5374+597_5374+614dupGTGTGTGTGTGTGTGTGT	PIKFYVE	ENSG00000115020.17	transcript	ENST00000264380.9	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
PIM1_chr6_37165152_37180428	37179358	A A	AATATATA others(11): Show AATATATATTATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(21): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG03688.hp1 NA18944.hp1 NA18957.hp1 NA18965.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA19002.hp2 NA19065.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0022 a0001c0006t0004	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 a0001c0001t0022g0004 a0001c0006t0004g0004	24	414	0.0580	18	c.52 others(29): Show c.5267_*5268insATATATATTATATATTAT	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3931		chr6	TogoVar
PINK1_chr1_20628458_20656511	20651801	T T	TTTTTTTT others(11): Show TTTTTTTTATATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0097 a0007c0012t0003g0097	1	458	0.0022	18	c.11 others(29): Show c.1110_*1111insTTTTTTTATATTTATTTA	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding		291		chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22536720	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0051 a0002c0003t0051	a0002c0003t0051g0197 a0002c0003t0051g0197	1	206	0.0049	18	c.48 others(27): Show c.480_*481insGTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	480		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22536725	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAACAAAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0110 a0002c0003t0043g0110	1	206	0.0049	18	c.47 others(27): Show c.475_*476insGTTTTGTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	10/10	475		chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22596205	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp1 HG03579.hp1 others(1): Show HG02145.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0008 a0001c0002t0010 a0002c0003t0051 others(1): Show a0001c0001t0008 a0001c0002t0010 a0002c0003t0051 a0002c0004t0025	a0001c0001t0008g0164 a0001c0002t0010g0041 a0002c0003t0051g0197 others(1): Show a0001c0001t0008g0164 a0001c0002t0010g0041 a0002c0003t0051g0197 a0002c0004t0025g0017	4	206	0.0194	18	c.340 others(35): Show c.340-4442_340-4425dupTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22601130	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	206	0.0049	18	c.339 others(35): Show c.339+6779_339+6796dupTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22627591	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	206	0.0049	18	c.145 others(37): Show c.145-17892_145-17875dupTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664048	C C	CATATATA others(11): Show CATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	1	206	0.0049	18	c.144 others(37): Show c.144+50134_144+50135insATGTATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664064	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0012	1	206	0.0049	18	c.144 others(37): Show c.144+50118_144+50119insGTATATATATATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22671745	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01169.hp2 others(8): Show HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02922.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0001c0015 a0003c0014	a0001c0001t0004 a0001c0001t0005 a0001c0001t0053 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0053 a0001c0005t0014 a0001c0007t0005 a0001c0007t0015 a0001c0015t0054 a0003c0014t0016	a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 others(8): Show a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0156 a0001c0001t0005g0196 a0001c0001t0053g0094 a0001c0005t0014g0082 a0001c0007t0005g0123 a0001c0007t0015g0198 a0001c0015t0054g0093 a0003c0014t0016g0190	11	206	0.0534	18	c.144 others(37): Show c.144+42420_144+42437dupGTGTGTGTGTGTGTGTGT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22705426	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0113 a0002c0003t0003g0113	1	206	0.0049	18	c.144 others(35): Show c.144+8739_144+8756dupTTTTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2B_chr17_38760691_38804556	38799956	A A	ACGGGAAT others(11): Show ACGGGAATGCGAGGAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02886.hp1 others(4): Show HG02280.hp2 HG02559.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0008 a0001c0001t0011 a0001c0005t0008	a0001c0001t0011g0179 a0001c0005t0008g0023 a0001c0005t0008g0172 others(3): Show a0001c0001t0011g0179 a0001c0005t0008g0023 a0001c0005t0008g0172 a0001c0005t0008g0176 a0001c0005t0008g0177 a0001c0005t0008g0178	7	379	0.0185	18	c.-55 others(27): Show c.-550_-533dupGCCCTCCTCGCATTCCCG	PIP4K2B	ENSG00000276293.5	transcript	ENST00000619039.5	protein_coding		401		chr17	TogoVar
PIP4K2C_chr12_57586192_57608418	57590087	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02809.hp1 HG02055.hp1 HG02723.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0063	3	386	0.0078	18	c.-12 others(29): Show c.-1203_-1202insTTTTTTTTTTTTTTTTTT	PIP4K2C	ENSG00000166908.18	transcript	ENST00000354947.10	protein_coding		1104		chr12	TogoVar
PIP4P2_chr8_90988802_91045859	91040388	A A	ACAACATC others(11): Show ACAACATCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0203 a0001c0002t0003g0203	1	342	0.0029	18	c.106 others(33): Show c.106+255_106+256insGTGGTGGTGATGATGTTG	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	1/6			chr8	TogoVar
PIP5K1A_chr1_151193552_151254531	151251260	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02970.hp1 NA18906.hp2 HG02083.hp2 HG02970.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0001t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0206 a0001c0001t0005g0168 a0001c0003t0001g0176 a0001c0001t0001g0206 a0001c0001t0005g0168 a0001c0003t0001g0176	3	334	0.0090	18	c.33 others(29): Show c.3395_*3396insAAAAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		1730		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68754175	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	220	0.0046	18	c.-86 others(37): Show c.-86+11529_-86+11530insCTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68754175	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00741.hp1 others(13): Show HG00099.hp2 HG00323.hp2 HG00741.hp1 HG01169.hp1 HG01175.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 NA18522.hp1 NA18950.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0002g0161 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0007g0144 a0001c0002t0001g0052 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0209 a0001c0007t0008g0182	16	220	0.0727	18	c.-86 others(37): Show c.-86+11530_-86+11531insTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68788474	T T	TTTTTGTT others(11): Show TTTTTGTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	220	0.0046	18	c.-85 others(37): Show c.-85-29980_-85-29979insGTTTTGTTTTGTTTTGTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68847413	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	220	0.0046	18	c.70- others(35): Show c.70-16390_70-16373dupGTGTGTGTGTGTGTGTGT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68857959	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp2 HG02083.hp2 others(8): Show HG01071.hp1 HG01346.hp2 HG02083.hp2 HG02132.hp2 HG02683.hp1 HG02895.hp2 HG03130.hp1 HG03540.hp2 HG03669.hp1 NA18950.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0003c0006t0001 a0003c0006t0002	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0104 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0002g0097 a0001c0001t0002g0187 a0001c0002t0001g0052 a0001c0002t0002g0163 a0001c0002t0003g0136 a0003c0006t0001g0017 a0003c0006t0002g0167	11	220	0.0500	18	c.70- others(33): Show c.70-5863_70-5846dupGTTGTTGTTGTTGTTGTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	220	0.0046	18	c.120 others(37): Show c.1201+2412_1201+2429dupTTTTTTTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIPOX_chr17_29038141_29062216	29039613	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	18	c.-36 others(29): Show c.-3613_-3612insATATATATATATATATAT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3527		chr17	TogoVar
PIRT_chr17_10817470_10843087	10827465	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	454	0.0022	18	c.-13 others(37): Show c.-138-1700_-138-1683dupAAAAAAAAAAAAAAAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIRT_chr17_10817470_10843087	10841569	G G	GAAGTCAG others(11): Show GAAGTCAGGAGATTGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	454	0.0022	18	c.-37 others(29): Show c.-3764_-3763insGTCTCAATCTCCTGACTT	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		3483		chr17	TogoVar
PIRT_chr17_10817470_10843087	10843041	T T	TTTCTTTT others(11): Show TTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02055.hp2 HG02895.hp2 others(7): Show HG00741.hp2 HG02055.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03209.hp1 HG03225.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0002t0002	a0001c0001t0002g0216 a0001c0001t0005g0033 a0001c0001t0007g0214 others(6): Show a0001c0001t0002g0216 a0001c0001t0005g0033 a0001c0001t0007g0214 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0011g0029 a0001c0001t0020g0172 a0001c0002t0002g0212 a0001c0002t0002g0213	10	454	0.0220	18	c.-52 others(29): Show c.-5236_-5235insGAAAAGAAAAGAAAAGAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		4955		chr17	TogoVar
PIR_chrX_15379799_15498333	15398665	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0064 a0001c0002t0001g0019 a0001c0002t0001g0064	2	272	0.0074	18	c.611 others(35): Show c.611-1135_611-1134insACACACACACACACACAC	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15433544	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18954.hp1 NA18955.hp1 others(4): Show NA18951.hp2 NA18954.hp1 NA18955.hp1 NA19012.hp1 NA19075.hp1 NA19082.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0002t0001g0038 a0001c0002t0001g0041 others(4): Show a0001c0001t0001g0028 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0090	7	272	0.0257	18	c.481 others(35): Show c.481-7555_481-7554insTTCTTTCTTTCTTTCTTT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15483174	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp1 HG01993.hp2 others(15): Show HG00738.hp1 HG01952.hp1 HG01993.hp2 HG02071.hp1 NA18612.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18972.hp2 NA18978.hp2 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19085.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0001c0002t0003 a0004c0005t0007 a0001c0002t0001 a0001c0002t0003 a0004c0005t0007	a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0025 others(15): Show a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0089 a0001c0002t0001g0097 a0001c0002t0003g0070 a0004c0005t0007g0270	18	272	0.0662	18	c.97- others(33): Show c.97-3354_97-3353insCTATATATATATATATAT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31640880	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	328	0.0031	18	c.321 others(35): Show c.321+7203_321+7220dupAAAAAAAAAAAAAAAAAA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67391060	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02258.hp2 HG02630.hp2 HG01071.hp1 HG02258.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0042 a0001c0001t0058 a0001c0001t0013 a0001c0001t0042 a0001c0001t0058	a0001c0001t0013g0077 a0001c0001t0042g0074 a0001c0001t0058g0073 a0001c0001t0013g0077 a0001c0001t0042g0074 a0001c0001t0058g0073	3	218	0.0138	18	c.48+ others(35): Show c.48+12867_48+12884dupGTGTGTGTGTGTGTGTGT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67403218	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0111 a0001c0001t0057g0111	1	218	0.0046	18	c.48+ others(35): Show c.48+25022_48+25039dupAAAAAAAAAAAAAAAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCACACGC others(11): Show GCACACGCACACACACACA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	218	0.0046	18	c.48+ others(35): Show c.48+46994_48+46995insACGCACACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425193	G G	GCGCGCGC others(11): Show GCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18943.hp2 HG00408.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0069 a0001c0001t0064 a0001c0001t0069	a0001c0001t0064g0042 a0001c0001t0069g0011 a0001c0001t0064g0042 a0001c0001t0069g0011	2	218	0.0092	18	c.48+ others(35): Show c.48+46992_48+46993insGCGCGCGCGCACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425203	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18971.hp2 NA18943.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0134 a0001c0001t0023g0115 a0001c0001t0001g0134 a0001c0001t0023g0115	2	218	0.0092	18	c.48+ others(35): Show c.48+47044_48+47061dupCACACACACACACACACA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425203	G G	GCACGCAC others(11): Show GCACGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0027	1	218	0.0046	18	c.48+ others(35): Show c.48+47004_48+47005insGCACACACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425203	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0196 a0001c0001t0025g0196	1	218	0.0046	18	c.48+ others(35): Show c.48+47002_48+47003insGCACACACACACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02965.hp1 others(5): Show HG00423.hp1 HG00673.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03239.hp1 HG03239.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0060	a0001c0001t0003g0022 a0001c0001t0005g0110 a0001c0001t0007g0188 others(5): Show a0001c0001t0003g0022 a0001c0001t0005g0110 a0001c0001t0007g0188 a0001c0001t0012g0078 a0001c0001t0013g0198 a0001c0001t0020g0126 a0001c0001t0022g0061 a0001c0001t0060g0008	8	218	0.0367	18	c.49- others(35): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599001	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00642.hp2 others(3): Show HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01167.hp1 HG01175.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0002g0084 others(3): Show a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0002g0084 a0001c0001t0012g0004 a0001c0001t0014g0218 a0001c0001t0019g0085	6	218	0.0275	18	c.366 others(37): Show c.366+20761_366+20778dupATATATATATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67629238	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp2 HG01496.hp1 others(22): Show HG01074.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02004.hp2 HG02074.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03654.hp2 HG06807.hp1 NA18906.hp2 NA18969.hp1 NA18975.hp2 NA18982.hp2 NA18998.hp2 NA19043.hp1 NA19057.hp1 NA19087.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0057 a0001c0001t0062 a0001c0001t0074 a0001c0003t0054	a0001c0001t0001g0091 a0001c0001t0001g0144 a0001c0001t0001g0163 others(22): Show a0001c0001t0001g0091 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0209 a0001c0001t0002g0116 a0001c0001t0004g0186 a0001c0001t0005g0157 a0001c0001t0006g0125 a0001c0001t0008g0179 a0001c0001t0009g0206 a0001c0001t0010g0114 a0001c0001t0012g0193 a0001c0001t0013g0121 a0001c0001t0016g0001 a0001c0001t0018g0049 a0001c0001t0019g0048 a0001c0001t0021g0029 a0001c0001t0023g0184 a0001c0001t0024g0109 a0001c0001t0028g0068 a0001c0001t0057g0111 a0001c0001t0062g0039 a0001c0001t0074g0066 a0001c0003t0054g0088	25	218	0.1147	18	c.367 others(35): Show c.367-2894_367-2877dupTGTGTGTGTGTGTGTGTG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631641	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0194	1	218	0.0046	18	c.367 others(33): Show c.367-501_367-500insTATATATATATATATATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631645	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	1	218	0.0046	18	c.367 others(33): Show c.367-497_367-496insTATATATATATATATATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631655	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0032 a0001c0001t0070g0032	1	218	0.0046	18	c.367 others(33): Show c.367-487_367-486insTATATATATATATATATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67661994	C C	CATAATAA others(11): Show CATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 NA19030.hp1 HG02970.hp2 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0028 a0001c0001t0038 a0001c0001t0008 a0001c0001t0028 a0001c0001t0038	a0001c0001t0008g0166 a0001c0001t0028g0068 a0001c0001t0038g0216 a0001c0001t0008g0166 a0001c0001t0028g0068 a0001c0001t0038g0216	3	218	0.0138	18	c.463 others(35): Show c.463-7513_463-7496dupATAATAATAATAATAATA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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