Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIK3R4_chr3_130673934_130751829	130747251	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	304	0.0033	-12	c.-99 others(21): Show c.-992_-981delAAAAAAAAAAAA	PIK3R4	ENSG00000196455.8	transcript	ENST00000356763.8	protein_coding		423		chr3	TogoVar
PIK3R5_chr17_8873916_8970707	8888002	AAATAATA others(5): Show AAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG02071.hp2 others(5): Show HG00597.hp2 HG00621.hp1 HG02071.hp2 NA18970.hp2 NA18994.hp2 NA19063.hp1 NA19079.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0172 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0231	8	298	0.0269	-12	c.161 others(29): Show c.1616+157_1616+168delATTATTATTATT	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	10/18			chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8893074	GTGTGTGT others(5): Show GTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01175.hp2 others(18): Show HG00099.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01515.hp2 HG01891.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02683.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp2 HG06807.hp1 NA19043.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0006c0018	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0006c0018t0001	a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 others(17): Show a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0073 a0001c0002t0001g0087 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0282 a0001c0002t0001g0293 a0001c0004t0001g0259 a0001c0004t0001g0265 a0001c0005t0001g0030 a0001c0005t0001g0136 a0001c0005t0001g0272 a0006c0018t0001g0207	21	298	0.0705	-12	c.482 others(27): Show c.482+500_482+511delAACACACACACA	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	6/18			chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8967138	AACTTCCC others(5): Show AACTTCCCCAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	298	0.0034	-12	c.-15 others(23): Show c.-1568_-1557delATTTGGGGAAGT	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding		1432		chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8969509	AATTATTA others(5): Show AATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03710.hp1 NA18906.hp2 HG02615.hp1 HG03710.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0011 a0001c0001 a0001c0007 a0003c0011	a0001c0001t0001 a0001c0007t0001 a0003c0011t0001 a0001c0001t0001 a0001c0007t0001 a0003c0011t0001	a0001c0001t0001g0130 a0001c0007t0001g0269 a0003c0011t0001g0117 a0001c0001t0001g0130 a0001c0007t0001g0269 a0003c0011t0001g0117	3	298	0.0101	-12	c.-39 others(23): Show c.-3939_-3928delAATAATAATAAT	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding		3803		chr17	TogoVar
PIK3R6_chr17_8797722_8872674	8802098	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	354	0.0028	-12	c.11 others(23): Show c.1163_*1174delTTTTTTTTTTTT	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding		623		chr17	TogoVar
PIK3R6_chr17_8797722_8872674	8827763	GGAGAGAG others(5): Show GGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03209.hp1 HG03490.hp2 others(7): Show HG02698.hp1 HG03209.hp1 HG03490.hp2 NA18960.hp1 NA18984.hp1 NA18985.hp1 NA18991.hp1 NA19002.hp2 NA19005.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0086 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0246 a0001c0001t0001g0327 a0001c0001t0002g0088 a0002c0003t0001g0304	10	354	0.0283	-12	c.139 others(29): Show c.1392+337_1392+348delTCTCTCTCTCTC	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19			chr17	TogoVar
PIK3R6_chr17_8797722_8872674	8829501	GACACACA others(5): Show GACACACACTCAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG02647.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0231 a0001c0001t0001g0019 a0001c0001t0001g0231	2	354	0.0057	-12	c.889 others(27): Show c.889+193_889+204delATGAGTGTGTGT	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	10/19			chr17	TogoVar
PIKFYVE_chr2_208261255_208363746	208348599	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	288	0.0035	-12	c.537 others(29): Show c.5374+603_5374+614delGTGTGTGTGTGT	PIKFYVE	ENSG00000115020.17	transcript	ENST00000264380.9	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
PILRA_chr7_100368487_100405096	100377231	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG00639.hp1 HG01255.hp1 HG01517.hp2 HG02055.hp1 HG02165.hp2 HG02451.hp2 HG02602.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03654.hp2 NA18953.hp1 NA18964.hp1 NA18987.hp1 NA19030.hp1 NA19066.hp2 NA19084.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0001c0001t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0274 others(22): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0003c0003t0001g0278 a0003c0003t0001g0291 a0003c0003t0001g0295 a0003c0003t0001g0298 a0003c0003t0001g0299 a0004c0004t0001g0292 a0004c0004t0001g0293 a0004c0004t0001g0294	27	364	0.0742	-12	c.454 others(29): Show c.454+2814_454+2825delTTTTTTTTTTTT	PILRA	ENSG00000085514.16	transcript	ENST00000198536.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIM1_chr6_37165152_37180428	37170247	GGCAGCAG others(5): Show GGCAGCAGCAGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	414	0.0024	-12	c.-31 others(21): Show c.-310_-299delGCAGCAGCAGCA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding	1/6	299	INFO_REALIGN_3_PRIME	chr6	TogoVar
PIM1_chr6_37165152_37180428	37176836	AACACACA others(5): Show AACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-12	c.27 others(23): Show c.2746_*2757delACACACACACAC	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		1409		chr6	TogoVar
PIMREG_chr17_6439455_6456469	6441131	TCACACAC others(5): Show TCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(50): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02273.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18962.hp2 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18992.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19056.hp2 NA19065.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0002c0004t0003	a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 others(29): Show a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0108 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0006g0001 a0001c0001t0006g0049 a0001c0001t0007g0065 a0001c0001t0009g0005 a0001c0001t0014g0060 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0112 a0001c0002t0004g0081 a0002c0004t0003g0083	53	312	0.1699	-12	c.-33 others(23): Show c.-3392_-3381delCACACACACACA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		3323		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6441170	CACACACA others(5): Show CACACACACACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02976.hp1 others(6): Show HG01243.hp1 HG02622.hp1 HG02976.hp1 HG03471.hp2 HG03942.hp2 HG06807.hp2 NA18906.hp2 NA19070.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0002g0031 a0001c0001t0003g0077 a0001c0002t0004g0006	9	312	0.0289	-12	c.-33 others(23): Show c.-3353_-3342delACACACACACAT	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		3284		chr17	TogoVar
PIN1_chr19_9830318_9854689	9845244	TTTTGTTT others(5): Show TTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp2 others(5): Show HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02976.hp1 HG03139.hp1 HG03942.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0093 a0001c0001t0001g0094	8	422	0.0190	-12	c.272 others(29): Show c.272-2761_272-2750delTTTGTTTGTTTG	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
PINK1_chr1_20628458_20656511	20646855	ATTATTTC others(5): Show ATTATTTCTTTAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0019 a0019	a0019c0011 a0019c0011	a0019c0011t0018 a0019c0011t0018	a0019c0011t0018g0201 a0019c0011t0018g0201	1	458	0.0022	-12	c.112 others(31): Show c.1123+1139_1123+1150delCTTTATTTATTT	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PINK1_chr1_20628458_20656511	20651801	TTTTATTT others(5): Show TTTTATTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(173): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0010 a0012 a0016 a0017	a0001c0001 a0001c0016 a0001c0023 others(6): Show a0001c0001 a0001c0016 a0001c0023 a0004c0005 a0005c0006 a0010c0017 a0012c0027 a0016c0018 a0017c0026	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0016t0001 a0001c0023t0007 a0004c0005t0007 a0004c0005t0016 a0005c0006t0001 a0010c0017t0001 a0012c0027t0001 a0016c0018t0001 a0017c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0007g0071 a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0017g0181 a0001c0016t0001g0007 a0001c0023t0007g0185 a0004c0005t0007g0023 a0004c0005t0007g0049 a0004c0005t0007g0127 a0004c0005t0007g0128 a0004c0005t0007g0129 a0004c0005t0016g0130 a0005c0006t0001g0007 a0005c0006t0001g0056 a0005c0006t0001g0153 a0005c0006t0001g0166 a0010c0017t0001g0001 a0012c0027t0001g0001 a0016c0018t0001g0006 a0017c0026t0001g0010	176	458	0.3843	-12	c.11 others(23): Show c.1111_*1122delTTTATTTATTTA	PINK1	ENSG00000158828.8	transcript	ENST00000321556.5	protein_coding		291		chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22581565	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19009.hp1 NA18944.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0098 a0001c0001t0002g0099	2	206	0.0097	-12	c.493 others(29): Show c.493-8120_493-8109delTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	4/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22627588	TAATAAAA others(5): Show TAATAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02976.hp1 others(2): Show HG02622.hp1 HG02647.hp1 HG02976.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0008 a0001c0001t0034 a0001c0005t0015 others(2): Show a0001c0001t0008 a0001c0001t0034 a0001c0005t0015 a0001c0007t0015 a0002c0004t0025	a0001c0001t0008g0095 a0001c0001t0034g0101 a0001c0005t0015g0016 others(2): Show a0001c0001t0008g0095 a0001c0001t0034g0101 a0001c0005t0015g0016 a0001c0007t0015g0198 a0002c0004t0025g0087	5	206	0.0243	-12	c.145 others(31): Show c.145-17883_145-17872delTTTTTTTTTATT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22640014	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0071 a0001c0013t0006g0071	1	206	0.0049	-12	c.145 others(31): Show c.145-30309_145-30298delAAAAAAAAAAAA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22664050	TATGTATA others(5): Show TATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02895.hp1 others(6): Show HG01243.hp2 HG02145.hp2 HG02895.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0011 others(1): Show a0001c0002 a0001c0008 a0001c0011 a0001c0012	a0001c0002t0001 a0001c0002t0010 a0001c0008t0006 others(2): Show a0001c0002t0001 a0001c0002t0010 a0001c0008t0006 a0001c0011t0006 a0001c0012t0041	a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0044 others(6): Show a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0044 a0001c0002t0010g0041 a0001c0008t0006g0088 a0001c0008t0006g0089 a0001c0011t0006g0042 a0001c0011t0006g0043 a0001c0012t0041g0045	9	206	0.0437	-12	c.144 others(31): Show c.144+50121_144+50132delGTATATATACAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22667865	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 NA18944.hp2 others(1): Show HG03516.hp2 NA18906.hp2 NA18944.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0032 a0001c0005t0012 a0001c0005t0015 others(1): Show a0001c0002t0032 a0001c0005t0012 a0001c0005t0015 a0002c0004t0025	a0001c0002t0032g0019 a0001c0005t0012g0009 a0001c0005t0015g0016 others(1): Show a0001c0002t0032g0019 a0001c0005t0012g0009 a0001c0005t0015g0016 a0002c0004t0025g0087	4	206	0.0194	-12	c.144 others(31): Show c.144+46306_144+46317delCACACACACACA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22689550	ATGCAGGA others(5): Show ATGCAGGAGGATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG02895.hp1 others(5): Show HG01243.hp1 HG02145.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03579.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0012 a0001c0002 a0001c0011 a0001c0012	a0001c0002t0001 a0001c0002t0010 a0001c0011t0006 others(1): Show a0001c0002t0001 a0001c0002t0010 a0001c0011t0006 a0001c0012t0041	a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 others(5): Show a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0010g0041 a0001c0011t0006g0042 a0001c0011t0006g0043 a0001c0012t0041g0045	8	206	0.0388	-12	c.144 others(31): Show c.144+24621_144+24632delCATCCTCCTGCA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22705426	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG01257.hp1 others(2): Show HG01123.hp1 HG01192.hp1 HG01257.hp1 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0158 a0001c0001t0002g0159 a0001c0001t0012g0157 others(2): Show a0001c0001t0001g0158 a0001c0001t0002g0159 a0001c0001t0012g0157 a0001c0001t0013g0160 a0001c0001t0013g0161	5	206	0.0243	-12	c.144 others(29): Show c.144+8745_144+8756delTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2B_chr17_38760691_38804556	38771546	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	379	0.0026	-12	c.808 others(27): Show c.808-286_808-275delTTTTTTTTTTTT	PIP4K2B	ENSG00000276293.5	transcript	ENST00000619039.5	protein_coding	7/9			chr17	TogoVar
PIP4K2B_chr17_38760691_38804556	38788177	AATTTATT others(5): Show AATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG01243.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0008 a0001c0001t0001 a0001c0005t0008	a0001c0001t0001g0122 a0001c0005t0008g0177 a0001c0001t0001g0122 a0001c0005t0008g0177	2	379	0.0053	-12	c.160 others(29): Show c.160-1269_160-1258delAAATAAATAAAT	PIP4K2B	ENSG00000276293.5	transcript	ENST00000619039.5	protein_coding	1/9			chr17	TogoVar
PIP4K2C_chr12_57586192_57608418	57600048	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0009t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0042 a0001c0001t0002g0062 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0129 a0001c0001t0003g0035 a0001c0001t0003g0039 a0001c0001t0003g0100 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0038 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0117 a0001c0002t0001g0131 a0001c0002t0006g0082 a0001c0002t0007g0001 a0001c0002t0008g0057 a0001c0009t0001g0003 a0003c0008t0001g0001	234	386	0.6062	-12	c.700 others(27): Show c.700-266_700-255delAAAAAAAAAAAA	PIP4K2C	ENSG00000166908.18	transcript	ENST00000354947.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIP4P2_chr8_90988802_91045859	91003948	GAGATAGA others(5): Show GAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02559.hp1 HG02818.hp1 others(7): Show HG02523.hp1 HG02559.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 NA18964.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 others(7): Show a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0002g0210 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0002t0003g0193	10	342	0.0292	-12	c.539 others(29): Show c.539+4783_539+4794delATCTATCTATCT	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	5/6			chr8	TogoVar
PIP4P2_chr8_90988802_91045859	91011019	GAGATAGA others(5): Show GAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0133 a0001c0001t0002g0087 a0001c0001t0002g0133	2	342	0.0059	-12	c.487 others(29): Show c.487-2236_487-2225delATCTATCTATCT	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	4/6			chr8	TogoVar
PIP4P2_chr8_90988802_91045859	91011055	TAGATAGA others(5): Show TAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01884.hp1 others(7): Show HG00609.hp2 HG01069.hp1 HG01884.hp1 HG02572.hp2 HG02630.hp2 HG02895.hp2 HG03195.hp1 HG03942.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 a0001c0001t0001 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0002t0003g0194 others(7): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0203 a0001c0002t0003g0240 a0001c0002t0007g0023	10	342	0.0292	-12	c.487 others(29): Show c.487-2272_487-2261delGTCTATCTATCT	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	4/6			chr8	TogoVar
PIP4P2_chr8_90988802_91045859	91014758	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0075 a0001c0001t0001g0131 a0001c0001t0001g0132	3	342	0.0088	-12	c.486 others(29): Show c.486+3620_486+3631delGTGTGTGTGTGT	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	4/6			chr8	TogoVar
PIP5K1A_chr1_151193552_151254531	151208719	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0115 a0001c0002t0012g0115	1	334	0.0030	-12	c.85+ others(27): Show c.85+9657_85+9668delTTTTTTTTTTTT	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1A_chr1_151193552_151254531	151216900	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	334	0.0030	-12	c.86- others(27): Show c.86-7326_86-7315delTTTTTTTTTTTT	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIP5K1A_chr1_151193552_151254531	151253953	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02056.hp1 HG02258.hp2 others(8): Show HG01884.hp2 HG02056.hp1 HG02258.hp2 HG02647.hp1 HG02895.hp1 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0019 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0009g0227 a0001c0001t0019g0209 a0001c0002t0002g0042	11	334	0.0329	-12	c.60 others(23): Show c.6089_*6100delAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		4423		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68847413	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG01891.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109	5	220	0.0227	-12	c.70- others(29): Show c.70-16384_70-16373delGTGTGTGTGTGT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68893055	AGAGTAAG others(5): Show AGAGTAAGACTCC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	220	0.0046	-12	c.472 others(29): Show c.472-1282_472-1271delAGTAAGACTCCG	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68920359	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02129.hp1 others(16): Show HG00438.hp1 HG00597.hp1 HG02129.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp2 NA18950.hp2 NA18963.hp2 NA18971.hp2 NA18983.hp1 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA19080.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0096 a0001c0001t0002g0159 a0001c0001t0002g0173 a0001c0001t0002g0196 a0001c0001t0002g0218	19	220	0.0864	-12	c.111 others(29): Show c.1116+645_1116+656delTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68988444	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01071.hp1 others(39): Show HG00323.hp2 HG00738.hp1 HG01071.hp1 HG01175.hp1 HG01361.hp2 HG01496.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04199.hp1 NA18522.hp2 NA18950.hp2 NA18965.hp1 NA18971.hp2 NA18989.hp1 NA18994.hp2 NA19007.hp1 NA19080.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0005t0001 a0001c0005t0003 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0134 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0199 a0001c0001t0002g0213 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0005g0063 a0001c0005t0001g0072 a0001c0005t0003g0154 a0002c0003t0002g0135 a0002c0003t0002g0181	42	220	0.1909	-12	c.150 others(31): Show c.1503-2684_1503-2673delTTTTTTTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1B_chr9_68700240_69014176	68995226	GGAGAAAG others(5): Show GGAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02970.hp2 HG01255.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0128 a0001c0001t0001g0037 a0001c0001t0002g0128	2	220	0.0091	-12	c.162 others(31): Show c.1620+3984_1620+3995delGAAAGAAAGAGA	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5K1C_chr19_3625183_3705468	3677772	TGGAGGGA others(5): Show TGGAGGGATGGAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0196 a0001c0002t0003g0196	1	332	0.0030	-12	c.95- others(29): Show c.95-10431_95-10420delCTCCATCCCTCC	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PIPOX_chr17_29038141_29062216	29045403	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	396	0.0025	-12	c.263 others(27): Show c.263+413_263+424delTTTTTTTTTTTT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIP_chr7_143127077_143144739	143134183	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG02135.hp2 others(7): Show HG01106.hp1 HG01361.hp2 HG02135.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03209.hp1 HG04115.hp2 HG04199.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120	10	340	0.0294	-12	c.96- others(25): Show c.96-971_96-960delTATATATATATA	PIP	ENSG00000159763.4	transcript	ENST00000291009.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIRT_chr17_10817470_10843087	10827465	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0141 a0001c0001t0012g0141	1	454	0.0022	-12	c.-13 others(31): Show c.-138-1694_-138-1683delAAAAAAAAAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIRT_chr17_10817470_10843087	10829965	GTCTATCT others(5): Show GTCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01106.hp2 others(26): Show HG00408.hp2 HG00558.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02602.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18947.hp2 NA18972.hp1 NA19030.hp1 NA19070.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031 a0003c0004t0002	a0001c0001t0001g0096 a0001c0001t0002g0010 a0001c0001t0002g0019 others(13): Show a0001c0001t0001g0096 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0208 a0001c0001t0002g0243 a0001c0001t0004g0121 a0001c0001t0005g0028 a0001c0001t0005g0069 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0007g0214 a0001c0001t0031g0181 a0003c0004t0002g0180	29	454	0.0639	-12	c.-13 others(31): Show c.-138-4194_-138-4183delTAGATAGATAGA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding	1/1			chr17	TogoVar
PIRT_chr17_10817470_10843087	10843029	CTTTTCTT others(5): Show CTTTTCTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	454	0.0022	-12	c.-52 others(23): Show c.-5235_-5224delAAGAAAAGAAAA	PIRT	ENSG00000233670.7	transcript	ENST00000580256.3	protein_coding		4943		chr17	TogoVar
PIR_chrX_15379799_15498333	15398665	GGAGGGTG others(5): Show GGAGGGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	272	0.0037	-12	c.611 others(29): Show c.611-1146_611-1135delACACACACCCTC	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15409095	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03041.hp2 others(1): Show HG01884.hp2 HG02280.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0006g0236 others(1): Show a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0006g0236 a0001c0001t0006g0237	4	272	0.0147	-12	c.566 others(29): Show c.566-1557_566-1546delAAAAAAAAAAAA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	6/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15419343	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20129.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0157 a0001c0001t0003g0125 a0001c0001t0003g0157	2	272	0.0074	-12	c.565 others(29): Show c.565+6551_565+6562delCACACACACACA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	6/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15433548	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	272	0.0037	-12	c.481 others(29): Show c.481-7570_481-7559delTTCTTTCTTTCT	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9			chrX	TogoVar
PIR_chrX_15379799_15498333	15496963	ATAGACAA others(5): Show ATAGACAACACTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	272	0.0037	-12	c.-38 others(23): Show c.-3838_-3827delAAGTGTTGTCTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding		3631		chrX	TogoVar

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