Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff 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
PILRA_chr7_100368487_100405096	100388749	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	364	0.0028	-10	c.455 others(27): Show c.455-1119_455-1110delAAAAAAAAAA	PILRA	ENSG00000085514.16	transcript	ENST00000198536.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIM1_chr6_37165152_37180428	37176836	AACACACA others(3): Show AACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02132.hp2 HG02559.hp1 others(12): Show HG02109.hp2 HG02132.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020	15	414	0.0362	-10	c.27 others(21): Show c.2746_*2755delACACACACAC	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		1409		chr6	TogoVar
PIM2_chrX_48908182_48924024	48913446	TGGTGGTG others(3): Show TGGTGGTGTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA19060.hp1 NA18961.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0018 a0001c0001t0013 a0001c0001t0018	a0001c0001t0013g0038 a0001c0001t0018g0040 a0001c0001t0013g0038 a0001c0001t0018g0040	2	278	0.0072	-10	c.67 others(19): Show c.675_*684delGGACACCACC	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	6/6	675		chrX	TogoVar
PIM2_chrX_48908182_48924024	48914107	GGGCCAGG others(3): Show GGGCCAGGCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	278	0.0036	-10	c.14 others(17): Show c.14_*23delTGGCCTGGCC	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding	6/6	14		chrX	TogoVar
PIM2_chrX_48908182_48924024	48923659	ATGAGGGC others(3): Show ATGAGGGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	278	0.0036	-10	c.-48 others(21): Show c.-4835_-4826delCGGGCCCTCA	PIM2	ENSG00000102096.10	transcript	ENST00000376509.4	protein_coding		4636		chrX	TogoVar
PIM3_chr22_49955772_49969072	49958775	AGAGCCTG others(3): Show AGAGCCTGGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0001 a0001c0012t0001g0001	1	426	0.0024	-10	c.-21 others(21): Show c.-2172_-2163delGAGCCTGGTC	PIM3	ENSG00000198355.5	transcript	ENST00000360612.5	protein_coding		1996		chr22	TogoVar
PIM3_chr22_49955772_49969072	49965362	AGTCCAGT others(3): Show AGTCCAGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	-10	c.22 others(21): Show c.2236_*2245delGTCCAGTCTG	PIM3	ENSG00000198355.5	transcript	ENST00000360612.5	protein_coding		1291		chr22	TogoVar
PIMREG_chr17_6439455_6456469	6441131	TCACACAC others(3): Show TCACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG01884.hp1 others(19): Show HG00408.hp1 HG00673.hp2 HG01884.hp1 HG01993.hp2 HG02071.hp2 HG02145.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp1 NA18906.hp1 NA18952.hp1 NA19009.hp2 NA19074.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0001c0002t0007 a0001c0002t0012 a0001c0002t0015	a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0029 others(14): Show a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0092 a0001c0001t0003g0005 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0104 a0001c0001t0005g0013 a0001c0001t0005g0043 a0001c0001t0007g0047 a0001c0002t0004g0006 a0001c0002t0004g0093 a0001c0002t0007g0140 a0001c0002t0012g0091 a0001c0002t0015g0006	22	312	0.0705	-10	c.-33 others(21): Show c.-3392_-3383delCACACACACA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		3323		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6441172	CACACACA others(3): Show CACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 NA18747.hp1 HG02818.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0024 a0001c0001t0018g0094 a0001c0001t0001g0024 a0001c0001t0018g0094	2	312	0.0064	-10	c.-33 others(21): Show c.-3351_-3342delACACACACAT	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		3282		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6453124	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG03471.hp1 others(1): Show HG02630.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0012 a0001c0001t0008 a0001c0002t0012	a0001c0001t0008g0067 a0001c0001t0008g0100 a0001c0001t0008g0101 others(1): Show a0001c0001t0008g0067 a0001c0001t0008g0100 a0001c0001t0008g0101 a0001c0002t0012g0091	4	312	0.0128	-10	c.27 others(21): Show c.2778_*2787delCTCTCTCTCT	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		1656		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455647	CGGAGGGC others(3): Show CGGAGGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01346.hp2 others(5): Show HG00733.hp2 HG01099.hp2 HG01346.hp2 HG01943.hp1 HG01993.hp1 NA18942.hp2 NA19084.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0002g0008 a0001c0001t0014g0060 a0001c0001t0001g0002 a0001c0001t0002g0008 a0001c0001t0014g0060	8	312	0.0256	-10	c.53 others(21): Show c.5301_*5310delGGAGGGCAGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4179		chr17	TogoVar
PIN1_chr19_9830318_9854689	9851429	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	422	0.0024	-10	c.22 others(21): Show c.2231_*2240delGTGTGTGTGT	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding		1741		chr19	TogoVar
PINK1_chr1_20628458_20656511	20647053	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01123.hp1 HG02074.hp2 others(18): Show HG00423.hp1 HG01123.hp1 HG02074.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2 NA18971.hp2 NA18981.hp2 NA18991.hp2 NA18997.hp1 NA19030.hp1 NA19086.hp1 NA19087.hp2	a0001 a0014 a0019 others(1): Show a0001 a0014 a0019 a0020	a0001c0001 a0001c0009 a0014c0019 others(2): Show a0001c0001 a0001c0009 a0014c0019 a0019c0011 a0020c0010	a0001c0001t0006 a0001c0001t0013 a0001c0009t0012 others(3): Show a0001c0001t0006 a0001c0001t0013 a0001c0009t0012 a0014c0019t0006 a0019c0011t0018 a0020c0010t0015	a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0063 others(14): Show a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0063 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0198 a0001c0001t0013g0030 a0001c0009t0012g0186 a0001c0009t0012g0187 a0014c0019t0006g0192 a0019c0011t0018g0201 a0020c0010t0015g0141	21	458	0.0459	-10	c.112 others(29): Show c.1123+1342_1123+1351delTTTTTTTTTT	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22539902	AGAGAGAG others(3): Show AGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0005 a0001c0007t0005 a0001c0001t0005 a0001c0007t0005	a0001c0001t0005g0196 a0001c0007t0005g0193 a0001c0001t0005g0196 a0001c0007t0005g0193	2	206	0.0097	-10	c.114 others(25): Show c.1140+59_1140+68delCCTCTCTCTC	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	9/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22549838	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02258.hp2 HG02723.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0018 a0001c0002t0056 a0001c0013t0006 a0001c0001t0018 a0001c0002t0056 a0001c0013t0006	a0001c0001t0018g0200 a0001c0001t0018g0202 a0001c0002t0056g0072 others(1): Show a0001c0001t0018g0200 a0001c0001t0018g0202 a0001c0002t0056g0072 a0001c0013t0006g0033	4	206	0.0194	-10	c.792 others(25): Show c.792+811_792+820delTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	7/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22550141	GGGGCCTC others(3): Show GGGGCCTCACT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG06807.hp2 HG02809.hp2 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0028 a0001c0005t0002 a0001c0002t0001 a0001c0002t0028 a0001c0005t0002	a0001c0002t0001g0044 a0001c0002t0028g0014 a0001c0005t0002g0021 a0001c0002t0001g0044 a0001c0002t0028g0014 a0001c0005t0002g0021	3	206	0.0146	-10	c.792 others(25): Show c.792+508_792+517delAGTGAGGCCC	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	7/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22619369	TATTTGTC others(3): Show TATTTGTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0016 a0003c0014t0016	a0003c0014t0016g0190 a0003c0014t0016g0190	1	206	0.0049	-10	c.145 others(27): Show c.145-9662_145-9653delCAAGACAAAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22627591	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0160 a0001c0001t0013g0160	1	206	0.0049	-10	c.145 others(29): Show c.145-17884_145-17875delTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22640014	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	206	0.0049	-10	c.145 others(29): Show c.145-30307_145-30298delAAAAAAAAAA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22647314	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01255.hp2 others(2): Show HG00140.hp2 HG01123.hp2 HG01255.hp2 HG03017.hp1 NA20752.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0044 a0002c0003t0046 a0002c0003t0007 a0002c0003t0044 a0002c0003t0046	a0002c0003t0007g0105 a0002c0003t0007g0106 a0002c0003t0007g0119 others(2): Show a0002c0003t0007g0105 a0002c0003t0007g0106 a0002c0003t0007g0119 a0002c0003t0044g0107 a0002c0003t0046g0096	5	206	0.0243	-10	c.145 others(29): Show c.145-37607_145-37598delTACACACACA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664052	TGTATATA others(3): Show TGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp2 HG02622.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0006 a0001c0002t0001 a0001c0013t0006	a0001c0002t0001g0025 a0001c0013t0006g0033 a0001c0002t0001g0025 a0001c0013t0006g0033	2	206	0.0097	-10	c.144 others(29): Show c.144+50121_144+50130delGTATATATAC	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664080	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0072 a0001c0002t0056g0072	1	206	0.0049	-10	c.144 others(29): Show c.144+50093_144+50102delGTATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22667865	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG03139.hp2 others(3): Show HG01243.hp1 HG02486.hp1 HG03139.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0039 a0001c0002t0001 a0002c0004t0025 a0001c0001t0039 a0001c0002t0001 a0002c0004t0025	a0001c0001t0039g0201 a0001c0002t0001g0048 a0001c0002t0001g0075 others(3): Show a0001c0001t0039g0201 a0001c0002t0001g0048 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0002c0004t0025g0017	6	206	0.0291	-10	c.144 others(29): Show c.144+46308_144+46317delCACACACACA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22671745	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01358.hp2 others(22): Show HG00639.hp1 HG01243.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp2 HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 NA18522.hp1 NA18998.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 a0001c0007t0008 a0001c0007t0055 a0003c0009t0011 a0003c0009t0016	a0001c0001t0001g0128 a0001c0001t0002g0103 a0001c0001t0008g0095 others(22): Show a0001c0001t0001g0128 a0001c0001t0002g0103 a0001c0001t0008g0095 a0001c0001t0008g0118 a0001c0001t0034g0101 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0027g0001 a0001c0007t0008g0102 a0001c0007t0055g0100 a0003c0009t0011g0074 a0003c0009t0011g0086 a0003c0009t0016g0073	25	206	0.1214	-10	c.144 others(29): Show c.144+42428_144+42437delGTGTGTGTGT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP5K1A_chr1_151193552_151254531	151208719	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp1 HG01517.hp2 HG01106.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0139 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0139	3	334	0.0090	-10	c.85+ others(25): Show c.85+9659_85+9668delTTTTTTTTTT	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68817567	ATATAGAT others(3): Show ATATAGATTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092	4	220	0.0182	-10	c.-85 others(25): Show c.-85-891_-85-882delTAGATTTTTA	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68875295	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	220	0.0046	-10	c.201 others(27): Show c.201-1360_201-1351delAAAAAAAAAA	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68989094	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18989.hp1 NA18994.hp2 others(1): Show NA18950.hp2 NA18989.hp1 NA18994.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0002g0173	4	220	0.0182	-10	c.150 others(29): Show c.1503-2029_1503-2020delAAAAAAAAAA	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	69004337	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	220	0.0046	-10	c.162 others(29): Show c.1621-4086_1621-4077delGTGTGTGTGT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1C_chr19_3625183_3705468	3650175	TAGTGCCA others(3): Show TAGTGCCAGCC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0235 a0001c0001t0037g0235	1	332	0.0030	-10	c.112 others(29): Show c.1128-1477_1128-1468delGGCTGGCACT	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3687525	GCACACGC others(3): Show GCACACGCACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0022 a0001c0025 a0001c0022 a0001c0025	a0001c0022t0033 a0001c0025t0013 a0001c0022t0033 a0001c0025t0013	a0001c0022t0033g0328 a0001c0025t0013g0322 a0001c0022t0033g0328 a0001c0025t0013g0322	2	332	0.0060	-10	c.94+ others(27): Show c.94+12762_94+12771delTGTGCGTGTG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3687574	CGCACACA others(3): Show CGCACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0039 a0001c0023t0039	a0001c0023t0039g0327 a0001c0023t0039g0327	1	332	0.0030	-10	c.94+ others(27): Show c.94+12713_94+12722delATGTGTGTGC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIP5KL1_chr9_127915881_127935777	127919911	CAAAATAA others(3): Show CAAAATAAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00609.hp1 others(30): Show HG00323.hp1 HG00423.hp2 HG00609.hp1 HG00673.hp2 HG01123.hp2 HG01346.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02109.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18952.hp1 NA18972.hp2 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19085.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0003 a0001c0001 a0001c0002 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0004c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0085 a0001c0001t0002g0005 a0001c0001t0002g0029 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0002t0002g0058 a0004c0003t0002g0050	33	400	0.0825	-10	c.19 others(21): Show c.1926_*1935delATTTTATTTT	PIP5KL1	ENSG00000167103.12	transcript	ENST00000388747.9	protein_coding		969		chr9	TogoVar
PIPOX_chr17_29038141_29062216	29039613	CATATATA others(3): Show CATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	-10	c.-36 others(21): Show c.-3612_-3603delATATATATAT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3527		chr17	TogoVar
PIP_chr7_143127077_143144739	143134183	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00609.hp1 others(17): Show HG00140.hp2 HG00558.hp1 HG00609.hp1 HG01106.hp2 HG01358.hp1 HG01884.hp2 HG01978.hp2 HG02723.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp1 NA18950.hp2 NA18954.hp1 NA18980.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0031 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0113	20	340	0.0588	-10	c.96- others(23): Show c.96-969_96-960delTATATATATA	PIP	ENSG00000159763.4	transcript	ENST00000291009.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIRT_chr17_10817470_10843087	10827465	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0217 a0001c0001t0010g0217	1	454	0.0022	-10	c.-13 others(29): Show c.-138-1692_-138-1683delAAAAAAAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIRT_chr17_10817470_10843087	10843009	ATTTTCTT others(3): Show ATTTTCTTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18993.hp2 NA18942.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0141 a0001c0001t0012g0157 a0001c0001t0012g0141 a0001c0001t0012g0157	2	454	0.0044	-10	c.-52 others(21): Show c.-5213_-5204delGAAAAGAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		4923		chr17	TogoVar
PIR_chrX_15379799_15498333	15419343	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 NA20129.hp1 HG03195.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0103 a0001c0001t0003g0096 a0001c0002t0001g0067 a0001c0001t0001g0103 a0001c0001t0003g0096 a0001c0002t0001g0067	3	272	0.0110	-10	c.565 others(27): Show c.565+6553_565+6562delCACACACACA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	6/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15433538	AAGAAAGA others(3): Show AAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp1 HG01884.hp1 others(18): Show HG00408.hp2 HG01168.hp1 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02083.hp1 HG02630.hp1 HG02683.hp1 HG02897.hp1 HG03130.hp1 HG03486.hp1 HG03831.hp2 NA18522.hp1 NA18954.hp2 NA18962.hp1 NA18972.hp1 NA18985.hp1 NA18988.hp1 NA19070.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0003c0004t0001	a0001c0001t0001g0031 a0001c0001t0001g0151 a0001c0001t0001g0172 others(18): Show a0001c0001t0001g0031 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0003g0096 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0088 a0001c0002t0003g0131 a0001c0002t0003g0144 a0003c0004t0001g0239	21	272	0.0772	-10	c.481 others(27): Show c.481-7558_481-7549delCTCTCTTTCT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15490654	CCAGACGT others(3): Show CCAGACGTCTA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG01257.hp2 others(1): Show HG01123.hp1 HG01192.hp1 HG01257.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 others(1): Show a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247	4	272	0.0147	-10	c.96+ others(23): Show c.96+498_96+507delTAGACGTCTG	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	2/9			chrX	TogoVar
PISD_chr22_31613491_31667215	31624712	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA20300.hp1 HG00280.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0126 a0001c0001t0004g0127	2	328	0.0061	-10	c.322 others(27): Show c.322-2837_322-2828delGTGTGTGTGT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PISD_chr22_31613491_31667215	31637158	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0085 a0001c0001t0022g0085	1	328	0.0031	-10	c.321 others(29): Show c.321+10933_321+10942delATATTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITHD1_chr1_23773418_23793232	23783430	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp2 HG01106.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0053 a0001c0001t0001g0086	2	372	0.0054	-10	c.321 others(27): Show c.321-2230_321-2221delGTGTGTGTGT	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNB_chr22_27846669_27924256	27885212	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00621.hp1 others(7): Show HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp2 HG01978.hp1 HG03942.hp1 NA18950.hp2 NA18971.hp1 NA19000.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0081 a0001c0001t0003g0085 others(7): Show a0001c0001t0003g0055 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0107	10	366	0.0273	-10	c.456 others(27): Show c.456+9333_456+9342delTTTTTTTTTT	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	7/11			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67373892	GATATATA others(3): Show GATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01433.hp1 HG02015.hp1 others(5): Show HG01169.hp1 HG01433.hp1 HG02015.hp1 HG02486.hp2 HG03516.hp2 HG03579.hp2 NA19056.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0041 a0001c0001t0053 a0001c0001t0065	a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0120 others(5): Show a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0120 a0001c0001t0010g0135 a0001c0001t0013g0197 a0001c0001t0041g0215 a0001c0001t0053g0185 a0001c0001t0065g0035	8	218	0.0367	-10	c.-42 others(21): Show c.-4262_-4253delATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding		3388		chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425197	GCACACGC others(3): Show GCACACGCACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 NA20129.hp2 HG02257.hp2 HG02723.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0017 a0001c0001t0006 a0001c0001t0008 a0001c0001t0017	a0001c0001t0006g0119 a0001c0001t0008g0214 a0001c0001t0017g0060 a0001c0001t0006g0119 a0001c0001t0008g0214 a0001c0001t0017g0060	3	218	0.0138	-10	c.48+ others(27): Show c.48+47001_48+47010delGCACACACAC	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425203	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG03225.hp1 others(1): Show HG00280.hp1 HG00323.hp2 HG03225.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017	a0001c0001t0005g0181 a0001c0001t0011g0165 a0001c0001t0016g0044 others(1): Show a0001c0001t0005g0181 a0001c0001t0011g0165 a0001c0001t0016g0044 a0001c0001t0017g0062	4	218	0.0184	-10	c.48+ others(27): Show c.48+47052_48+47061delCACACACACA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67425256	CACACACA others(3): Show CACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0178 a0001c0001t0026g0178	1	218	0.0046	-10	c.48+ others(27): Show c.48+47055_48+47064delACACACAGAG	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67442204	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02451.hp2 HG03041.hp1 HG01192.hp1 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0090 a0001c0001t0003g0021 a0001c0001t0006g0176 a0001c0001t0002g0090 a0001c0001t0003g0021 a0001c0001t0006g0176	3	218	0.0138	-10	c.48+ others(27): Show c.48+64037_48+64046delATATATATAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67455586	GTTTTTTT others(3): Show GTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG01167.hp2 others(18): Show HG00438.hp1 HG00597.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02148.hp1 HG02698.hp2 HG03942.hp2 NA18953.hp2 NA19056.hp1 NA19056.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0046 a0001c0001t0055	a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0003g0014 a0001c0001t0003g0043 a0001c0001t0004g0046 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0010g0135 a0001c0001t0013g0198 a0001c0001t0014g0034 a0001c0001t0016g0001 a0001c0001t0046g0047 a0001c0001t0055g0096	21	218	0.0963	-10	c.49- others(27): Show c.49-77198_49-77189delTGTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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