Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIK3R5_chr17_8873916_8970707	8946320	GCTAGAAA others(8): Show GCTAGAAAGAAAACTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0008 a0001c0004 a0002c0008	a0001c0004t0008 a0002c0008t0002 a0001c0004t0008 a0002c0008t0002	a0001c0004t0008g0111 a0002c0008t0002g0112 a0001c0004t0008g0111 a0002c0008t0002g0112	2	298	0.0067	-15	c.-14 others(34): Show c.-14+19261_-14+19275delTAGTTTTCTTTCTAG	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	1/18			chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8969507	CTAATTAT others(8): Show CTAATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	298	0.0034	-15	c.-39 others(26): Show c.-3940_-3926delTAATAATAATAATTA	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding		3801		chr17	TogoVar
PIK3R5_chr17_8873916_8970707	8969509	AATTATTA others(8): Show AATTATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00621.hp1 others(60): Show HG00280.hp1 HG00597.hp2 HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02148.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02970.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18990.hp2 NA19000.hp1 NA19005.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19091.hp1 NA20752.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0008c0019 a0009c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0003t0001 a0001c0010t0001 a0001c0013t0001 a0008c0019t0001 a0009c0018t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0155 others(59): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0005g0261 a0001c0001t0006g0169 a0001c0001t0007g0227 a0001c0001t0010g0210 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0003t0001g0001 a0001c0003t0001g0154 a0001c0003t0001g0157 a0001c0003t0001g0179 a0001c0003t0001g0226 a0001c0010t0001g0262 a0001c0013t0001g0158 a0008c0019t0001g0207 a0009c0018t0001g0221	63	298	0.2114	-15	c.-39 others(26): Show c.-3942_-3928delAATAATAATAATAAT	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding		3803		chr17	TogoVar
PIK3R6_chr17_8797722_8872674	8827748	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01099.hp1 others(10): Show HG00673.hp2 HG01069.hp1 HG01099.hp1 HG01169.hp2 HG01258.hp2 HG01517.hp1 HG02486.hp1 HG02970.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp1 NA18969.hp1 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0005c0008t0001	a0001c0001t0001g0058 a0001c0001t0001g0119 a0001c0001t0001g0127 others(10): Show a0001c0001t0001g0058 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0213 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0349 a0001c0001t0002g0050 a0001c0001t0002g0345 a0001c0001t0005g0353 a0005c0008t0001g0043	13	354	0.0367	-15	c.139 others(32): Show c.1392+349_1392+363delCTCTCTCTCTCTCTC	PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19			chr17	TogoVar
PILRA_chr7_100368487_100405096	100388749	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03041.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0292 a0004c0004t0001g0293 a0004c0004t0001g0294 a0004c0004t0001g0292 a0004c0004t0001g0293 a0004c0004t0001g0294	3	364	0.0082	-15	c.455 others(32): Show c.455-1124_455-1110delAAAAAAAAAAAAAAA	PILRA	ENSG00000085514.16	transcript	ENST00000198536.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIN1_chr19_9830318_9854689	9835512	GCTCTTCC others(8): Show GCTCTTCCGCGTCGTC	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	422	0.0024	-15	c.58+ others(28): Show c.58+112_58+126delTCTTCCGCGTCGTCC	PIN1	ENSG00000127445.14	transcript	ENST00000247970.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
PINX1_chr8_10759961_10844875	10766988	AACTCTGC others(8): Show AACTCTGCCCACAGAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	352	0.0028	-15	c.472 others(32): Show c.472-1087_472-1073delCTCTGTGGGCAGAGT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PIP4K2A_chr10_22529854_22719578	22549838	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	206	0.0049	-15	c.792 others(30): Show c.792+806_792+820delTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	7/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22601130	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02145.hp2 others(7): Show HG01192.hp2 HG01243.hp2 HG02145.hp2 HG02895.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0008 a0001c0001t0019 a0001c0002t0001 others(5): Show a0001c0001t0008 a0001c0001t0019 a0001c0002t0001 a0001c0002t0010 a0001c0008t0006 a0001c0011t0006 a0001c0012t0040 a0001c0012t0041	a0001c0001t0008g0164 a0001c0001t0019g0170 a0001c0002t0001g0044 others(7): Show a0001c0001t0008g0164 a0001c0001t0019g0170 a0001c0002t0001g0044 a0001c0002t0010g0041 a0001c0008t0006g0088 a0001c0008t0006g0089 a0001c0011t0006g0042 a0001c0011t0006g0043 a0001c0012t0040g0046 a0001c0012t0041g0045	10	206	0.0485	-15	c.339 others(32): Show c.339+6782_339+6796delTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	3/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22627588	TAATAAAA others(8): Show TAATAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02809.hp1 others(6): Show HG01192.hp2 HG01243.hp2 HG02809.hp1 HG02895.hp1 HG03041.hp2 HG03139.hp2 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0012 a0003c0009	a0001c0001t0019 a0001c0002t0001 a0001c0008t0006 others(4): Show a0001c0001t0019 a0001c0002t0001 a0001c0008t0006 a0001c0011t0006 a0001c0012t0040 a0001c0012t0041 a0003c0009t0011	a0001c0001t0019g0170 a0001c0002t0001g0044 a0001c0002t0001g0076 others(6): Show a0001c0001t0019g0170 a0001c0002t0001g0044 a0001c0002t0001g0076 a0001c0008t0006g0088 a0001c0008t0006g0089 a0001c0011t0006g0042 a0001c0012t0040g0046 a0001c0012t0041g0045 a0003c0009t0011g0086	9	206	0.0437	-15	c.145 others(34): Show c.145-17886_145-17872delTTTTTTTTTTTTATT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22627591	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00673.hp1 others(17): Show HG00609.hp1 HG00642.hp2 HG00673.hp1 HG01071.hp1 HG01891.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG03453.hp2 HG03516.hp1 HG03927.hp2 NA18747.hp1 NA18944.hp2 NA18974.hp2 NA18981.hp2 NA19009.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0002c0004 a0002c0006 a0003c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0021 a0001c0002t0033 a0001c0005t0001 a0001c0005t0002 a0001c0005t0010 a0001c0005t0012 a0001c0007t0030 a0002c0004t0003 a0002c0006t0003 a0002c0006t0009 a0003c0009t0011	a0001c0002t0001g0025 a0001c0002t0002g0030 a0001c0002t0002g0031 others(17): Show a0001c0002t0001g0025 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0021g0047 a0001c0002t0033g0035 a0001c0005t0001g0006 a0001c0005t0001g0018 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0010g0037 a0001c0005t0012g0009 a0001c0007t0030g0199 a0002c0004t0003g0012 a0002c0006t0003g0002 a0002c0006t0003g0003 a0002c0006t0003g0005 a0002c0006t0003g0007 a0002c0006t0003g0008 a0002c0006t0009g0011 a0003c0009t0011g0022	20	206	0.0971	-15	c.145 others(34): Show c.145-17889_145-17875delTTTTTTTTTTTTTTT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2A_chr10_22529854_22719578	22642255	CTGTCACT others(8): Show CTGTCACTTACAACCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0030 a0001c0002t0002g0031	2	206	0.0097	-15	c.145 others(34): Show c.145-32553_145-32539delAGGTTGTAAGTGACA	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIP4K2C_chr12_57586192_57608418	57593675	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02647.hp1 others(5): Show HG01891.hp2 HG02145.hp1 HG02647.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03491.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0058 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0124 a0001c0001t0002g0062	8	386	0.0207	-15	c.175 others(30): Show c.175-332_175-318delTTTTTTTTTTTTTTT	PIP4K2C	ENSG00000166908.18	transcript	ENST00000354947.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIP5K1A_chr1_151193552_151254531	151253953	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG04115.hp1 HG02809.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0302 a0001c0001t0001g0304	2	334	0.0060	-15	c.60 others(26): Show c.6089_*6103delAAAAAAAAAAAAAAA	PIP5K1A	ENSG00000143398.20	transcript	ENST00000368888.9	protein_coding		4423		chr1	TogoVar
PIP5K1B_chr9_68700240_69014176	68992839	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01361.hp1 HG01069.hp2 HG01071.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0122 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0001g0122 a0001c0001t0004g0102 a0001c0001t0004g0103	3	220	0.0136	-15	c.162 others(34): Show c.1620+1600_1620+1614delAAAAAAAAAAAAAAA	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIP5KL1_chr9_127915881_127935777	127919911	CAAAATAA others(8): Show CAAAATAAAATAAAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	400	0.0025	-15	c.19 others(26): Show c.1921_*1935delATTTTATTTTATTTT	PIP5KL1	ENSG00000167103.12	transcript	ENST00000388747.9	protein_coding		969		chr9	TogoVar
PISD_chr22_31613491_31667215	31637157	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA20300.hp1 HG01106.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0134 a0001c0001t0004g0127 a0001c0001t0004g0134	2	328	0.0061	-15	c.321 others(34): Show c.321+10929_321+10943delATATATATTTTTTTT	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNB_chr22_27846669_27924256	27872081	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	366	0.0027	-15	c.534 others(32): Show c.534+1642_534+1656delAAAAAAAAAAAAAAA	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	8/11			chr22	TogoVar
PITPNB_chr22_27846669_27924256	27885212	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00639.hp2 others(37): Show HG00323.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01346.hp1 HG01517.hp1 HG01993.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG03654.hp1 HG03704.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18978.hp2 NA18990.hp2 NA18994.hp2 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0020 others(35): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0091 a0001c0001t0002g0013 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0293 a0001c0001t0002g0323 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0012g0129 a0001c0002t0001g0027 a0001c0002t0001g0049	40	366	0.1093	-15	c.456 others(32): Show c.456+9328_456+9342delTTTTTTTTTTTTTTT	PITPNB	ENSG00000180957.19	transcript	ENST00000335272.10	protein_coding	7/11			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67460736	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG02280.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0038 a0001c0001t0007 a0001c0001t0038	a0001c0001t0007g0107 a0001c0001t0038g0216 a0001c0001t0007g0107 a0001c0001t0038g0216	2	218	0.0092	-15	c.49- others(32): Show c.49-72062_49-72048delCTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67481849	GGACCAAT others(8): Show GGACCAATAACAATTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp1 HG02976.hp1 HG00597.hp1 HG01891.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0034 a0001c0001t0001 a0001c0001t0007 a0001c0001t0034	a0001c0001t0001g0131 a0001c0001t0007g0075 a0001c0001t0034g0072 a0001c0001t0001g0131 a0001c0001t0007g0075 a0001c0001t0034g0072	3	218	0.0138	-15	c.49- others(32): Show c.49-50950_49-50936delCCAATAACAATTCGA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67495040	GTTTTTTT others(8): Show GTTTTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01496.hp1 HG00735.hp1 HG01192.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016	a0001c0001t0003g0021 a0001c0001t0009g0159 a0001c0001t0016g0001 a0001c0001t0003g0021 a0001c0001t0009g0159 a0001c0001t0016g0001	3	218	0.0138	-15	c.49- others(32): Show c.49-37750_49-37736delGTTTTTTTTTTTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67502744	CATTGTAT others(8): Show CATTGTATTGTATTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(60): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18943.hp1 NA18953.hp1 NA18953.hp2 NA18969.hp1 NA18982.hp1 NA18983.hp1 NA19005.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0037 a0001c0001t0044 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0067 a0001c0001t0072 a0001c0001t0075 a0001c0003t0054	a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0091 others(60): Show a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0002g0097 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0189 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0004g0046 a0001c0001t0004g0099 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0004g0186 a0001c0001t0005g0089 a0001c0001t0005g0152 a0001c0001t0006g0137 a0001c0001t0006g0149 a0001c0001t0009g0180 a0001c0001t0010g0199 a0001c0001t0011g0123 a0001c0001t0011g0208 a0001c0001t0012g0078 a0001c0001t0012g0193 a0001c0001t0012g0205 a0001c0001t0013g0077 a0001c0001t0014g0016 a0001c0001t0015g0012 a0001c0001t0015g0015 a0001c0001t0015g0024 a0001c0001t0016g0040 a0001c0001t0016g0041 a0001c0001t0017g0054 a0001c0001t0019g0101 a0001c0001t0021g0017 a0001c0001t0023g0115 a0001c0001t0025g0192 a0001c0001t0025g0196 a0001c0001t0026g0178 a0001c0001t0027g0020 a0001c0001t0027g0025 a0001c0001t0037g0018 a0001c0001t0044g0094 a0001c0001t0051g0138 a0001c0001t0052g0147 a0001c0001t0053g0185 a0001c0001t0067g0031 a0001c0001t0072g0064 a0001c0001t0075g0063 a0001c0003t0054g0088	63	218	0.2890	-15	c.49- others(32): Show c.49-30009_49-29995delGTATTGTATTGTATT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67540069	CATTTTAT others(8): Show CATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0077 a0001c0001t0013 a0001c0001t0077	a0001c0001t0013g0197 a0001c0001t0077g0071 a0001c0001t0013g0197 a0001c0001t0077g0071	2	218	0.0092	-15	c.197 others(32): Show c.197+7149_197+7163delTATTTTATTTTATTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67575854	CTTTCCTT others(8): Show CTTTCCTTCCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0002c0004t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 others(119): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0002g0003 a0001c0001t0002g0097 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0189 a0001c0001t0002g0211 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0004g0046 a0001c0001t0004g0099 a0001c0001t0004g0130 a0001c0001t0004g0148 a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0191 a0001c0001t0005g0089 a0001c0001t0005g0152 a0001c0001t0005g0157 a0001c0001t0005g0169 a0001c0001t0005g0181 a0001c0001t0005g0213 a0001c0001t0006g0125 a0001c0001t0006g0149 a0001c0001t0007g0103 a0001c0001t0007g0127 a0001c0001t0008g0173 a0001c0001t0009g0080 a0001c0001t0009g0180 a0001c0001t0009g0194 a0001c0001t0009g0206 a0001c0001t0010g0093 a0001c0001t0010g0114 a0001c0001t0010g0135 a0001c0001t0010g0199 a0001c0001t0011g0145 a0001c0001t0011g0146 a0001c0001t0011g0165 a0001c0001t0011g0208 a0001c0001t0012g0004 a0001c0001t0012g0193 a0001c0001t0012g0205 a0001c0001t0013g0083 a0001c0001t0014g0016 a0001c0001t0014g0019 a0001c0001t0014g0034 a0001c0001t0015g0015 a0001c0001t0015g0027 a0001c0001t0016g0040 a0001c0001t0016g0041 a0001c0001t0016g0044 a0001c0001t0017g0054 a0001c0001t0017g0060 a0001c0001t0017g0062 a0001c0001t0019g0101 a0001c0001t0020g0164 a0001c0001t0021g0029 a0001c0001t0023g0115 a0001c0001t0025g0196 a0001c0001t0026g0178 a0001c0001t0026g0203 a0001c0001t0027g0020 a0001c0001t0027g0025 a0001c0001t0028g0068 a0001c0001t0032g0050 a0001c0001t0033g0057 a0001c0001t0034g0072 a0001c0001t0035g0053 a0001c0001t0037g0018 a0001c0001t0039g0175 a0001c0001t0041g0215 a0001c0001t0042g0074 a0001c0001t0043g0105 a0001c0001t0045g0108 a0001c0001t0046g0047 a0001c0001t0048g0143 a0001c0001t0052g0147 a0001c0001t0053g0185 a0001c0001t0055g0096 a0001c0001t0057g0111 a0001c0001t0061g0002 a0001c0001t0062g0039 a0001c0001t0063g0037 a0001c0001t0064g0042 a0001c0001t0065g0035 a0001c0001t0066g0023 a0001c0001t0067g0031 a0001c0001t0070g0032 a0001c0001t0072g0064 a0001c0001t0073g0067 a0001c0001t0076g0065 a0002c0004t0001g0160	122	218	0.5596	-15	c.295 others(32): Show c.295-2331_295-2317delTTTCCTTCCTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	4/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67599020	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp2 HG02723.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0006 a0001c0001t0022	a0001c0001t0006g0119 a0001c0001t0022g0061 a0001c0001t0006g0119 a0001c0001t0022g0061	2	218	0.0092	-15	c.366 others(34): Show c.366+20765_366+20779delATATATATATATATT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67621180	CATTTTAT others(8): Show CATTTTATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG01928.hp2 others(12): Show HG00408.hp1 HG01243.hp1 HG01928.hp2 HG01993.hp1 HG02015.hp2 HG02257.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 NA18906.hp1 NA19062.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0035 a0001c0001t0045 a0001c0001t0051 a0001c0001t0069 a0001c0001t0073	a0001c0001t0001g0136 a0001c0001t0002g0106 a0001c0001t0002g0117 others(12): Show a0001c0001t0001g0136 a0001c0001t0002g0106 a0001c0001t0002g0117 a0001c0001t0004g0161 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0008g0173 a0001c0001t0010g0114 a0001c0001t0018g0049 a0001c0001t0019g0048 a0001c0001t0035g0053 a0001c0001t0045g0108 a0001c0001t0051g0138 a0001c0001t0069g0011 a0001c0001t0073g0067	15	218	0.0688	-15	c.367 others(34): Show c.367-10931_367-10917delTTTTATTTTATTTTA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631050	GTTGTTAT others(8): Show GTTGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01261.hp2 HG01169.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0065 a0001c0001t0001 a0001c0001t0065	a0001c0001t0001g0087 a0001c0001t0065g0035 a0001c0001t0001g0087 a0001c0001t0065g0035	2	218	0.0092	-15	c.367 others(32): Show c.367-1090_367-1076delGTTATTATTATTATT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67657160	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 HG01891.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0074 a0001c0001t0025 a0001c0001t0074	a0001c0001t0025g0192 a0001c0001t0074g0066 a0001c0001t0025g0192 a0001c0001t0074g0066	2	218	0.0092	-15	c.463 others(34): Show c.463-12328_463-12314delGTTTTGTTTTGTTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM2_chr12_122978480_123156090	123079350	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02559.hp1 others(14): Show HG01884.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0024 a0002c0003 a0002c0024	a0002c0003t0004 a0002c0003t0009 a0002c0024t0004 a0002c0003t0004 a0002c0003t0009 a0002c0024t0004	a0002c0003t0004g0001 a0002c0003t0004g0002 a0002c0003t0004g0004 others(12): Show a0002c0003t0004g0001 a0002c0003t0004g0002 a0002c0003t0004g0004 a0002c0003t0004g0005 a0002c0003t0004g0007 a0002c0003t0004g0008 a0002c0003t0004g0009 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0012 a0002c0003t0004g0013 a0002c0003t0004g0014 a0002c0003t0004g0090 a0002c0003t0009g0006 a0002c0024t0004g0047	17	230	0.0739	-15	c.-96 others(34): Show c.-96+31020_-96+31034delAAAAAAAAAAAAAAA	PITPNM2	ENSG00000090975.14	transcript	ENST00000320201.10	protein_coding	2/25			chr12	TogoVar
PITRM1_chr10_3132728_3177782	3171146	TTAAAAAA others(8): Show TTAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18963.hp1 NA18980.hp2 NA18961.hp1 NA18963.hp1 NA18980.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313 a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313	3	446	0.0067	-15	c.57- others(28): Show c.57-955_57-941delTTTTTTTTTTTTTTA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	1/26			chr10	TogoVar
PITX2_chr4_110612423_110628077	110613187	AAAACCAA others(8): Show AAAACCAAACCAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG01069.hp1 others(14): Show HG00140.hp1 HG00544.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG02109.hp2 HG02738.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03831.hp1 HG04204.hp2 NA19081.hp1 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0003t0002	a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0002g0002 a0001c0001t0012g0036 a0001c0001t0013g0038 a0001c0003t0002g0018	17	422	0.0403	-15	c.49 others(26): Show c.4923_*4937delGGTTTGGTTTGGTTT	PITX2	ENSG00000164093.18	transcript	ENST00000644743.1	protein_coding		4235		chr4	TogoVar
PIWIL1_chr12_130332887_130377637	130340632	TGGGGGAG others(8): Show TGGGGGAGGGGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(70): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02071.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03017.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18943.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19004.hp1 NA19012.hp2 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19080.hp1 NA19085.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0033 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0005t0036 a0001c0005t0054 a0002c0003t0011	a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0004g0007 others(62): Show a0001c0001t0003g0227 a0001c0001t0003g0232 a0001c0001t0004g0007 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0273 a0001c0001t0004g0275 a0001c0001t0004g0277 a0001c0001t0004g0281 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0291 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0006g0174 a0001c0001t0007g0007 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0249 a0001c0001t0007g0261 a0001c0001t0007g0265 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0276 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0282 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0297 a0001c0001t0007g0331 a0001c0001t0019g0003 a0001c0001t0019g0283 a0001c0001t0019g0289 a0001c0001t0020g0041 a0001c0001t0020g0274 a0001c0001t0021g0003 a0001c0001t0021g0280 a0001c0001t0022g0007 a0001c0001t0029g0290 a0001c0001t0033g0255 a0001c0001t0033g0258 a0001c0001t0049g0257 a0001c0001t0050g0256 a0001c0001t0051g0285 a0001c0005t0036g0037 a0001c0005t0036g0330 a0001c0005t0054g0037 a0002c0003t0011g0092	73	425	0.1718	-15	c.-12 others(32): Show c.-12-1935_-12-1921delGTGGGGGGAGGGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL1_chr12_130332887_130377637	130372597	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0153 a0001c0001t0045g0153	1	425	0.0024	-15	c.97 others(24): Show c.979_*993delAAAAAAAAAAAAAAA	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	21/21	979	INFO_REALIGN_3_PRIME	chr12	TogoVar
PIWIL2_chr8_22270316_22362568	22296020	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG03654.hp1 others(1): Show HG02965.hp2 HG03209.hp1 HG03654.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0001 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0005g0010 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0005g0010 a0001c0001t0011g0081	4	296	0.0135	-15	c.118 others(34): Show c.1181+5698_1181+5712delTTTTTTTTTTTTTTT	PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKD1L3_chr16_71924538_72005402	71964309	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0062 a0062	a0062c0085 a0062c0085	a0062c0085t0001 a0062c0085t0001	a0062c0085t0001g0254 a0062c0085t0001g0254	1	308	0.0033	-15	c.246 others(32): Show c.2466-973_2466-959delAAAAAAAAAAAAAAA	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	15/29			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100312251	GCTTCAGT others(8): Show GCTTCAGTAACGAAGT	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	306	0.0033	-15	c.350 others(34): Show c.350-12548_350-12534delACTTCGTTACTGAAG	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321664	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	306	0.0033	-15	c.349 others(32): Show c.349+7532_349+7546delCTTTCTTTCTTTCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321672	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	306	0.0033	-15	c.349 others(32): Show c.349+7524_349+7538delCTTTCTTTCTTTCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321740	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp2 NA19067.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0144 a0002c0003t0001g0145 a0001c0001t0001g0144 a0002c0003t0001g0145	2	306	0.0065	-15	c.349 others(32): Show c.349+7456_349+7470delCTTTCTTTCTTTCTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L2_chr5_137884457_137947747	137914031	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	336	0.0030	-15	c.132 others(34): Show c.1328+5110_1328+5124delTTTTTTTTTTTTTTT	PKD2L2	ENSG00000078795.17	transcript	ENST00000508883.6	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKD2L2_chr5_137884457_137947747	137923069	TGGTGCGA others(8): Show TGGTGCGATCTCACTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp1 HG02630.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0092 a0002c0002t0001g0093	2	336	0.0060	-15	c.145 others(32): Show c.1450-348_1450-334delTGCGATCTCACTCGG	PKD2L2	ENSG00000078795.17	transcript	ENST00000508883.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PKHD1L1_chr8_109357461_109542207	109414961	CATTATTA others(8): Show CATTATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02630.hp1 HG02683.hp1 others(6): Show HG01123.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG03041.hp1 HG03239.hp1 HG03486.hp2 HG04115.hp1	a0003 a0022 a0023 others(4): Show a0003 a0022 a0023 a0050 a0054 a0055 a0058	a0003c0003 a0003c0015 a0022c0030 others(6): Show a0003c0003 a0003c0015 a0022c0030 a0022c0031 a0023c0023 a0050c0036 a0054c0045 a0055c0035 a0058c0034	a0003c0003t0003 a0003c0015t0003 a0022c0030t0004 others(6): Show a0003c0003t0003 a0003c0015t0003 a0022c0030t0004 a0022c0031t0004 a0023c0023t0004 a0050c0036t0004 a0054c0045t0003 a0055c0035t0033 a0058c0034t0003	a0003c0003t0003g0176 a0003c0015t0003g0133 a0022c0030t0004g0275 others(6): Show a0003c0003t0003g0176 a0003c0015t0003g0133 a0022c0030t0004g0275 a0022c0031t0004g0276 a0023c0023t0004g0132 a0050c0036t0004g0159 a0054c0045t0003g0167 a0055c0035t0033g0160 a0058c0034t0003g0168	9	282	0.0319	-15	c.236 others(34): Show c.2360+1453_2360+1467delATTATTATTATTATT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	21/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109428023	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02886.hp1 others(2): Show HG02145.hp2 HG02559.hp2 HG02886.hp1 HG02896.hp2 NA20129.hp1	a0009 a0037 a0047 others(2): Show a0009 a0037 a0047 a0048 a0071	a0009c0009 a0037c0032 a0047c0037 others(2): Show a0009c0009 a0037c0032 a0047c0037 a0048c0028 a0071c0043	a0009c0009t0004 a0037c0032t0004 a0047c0037t0028 others(2): Show a0009c0009t0004 a0037c0032t0004 a0047c0037t0028 a0048c0028t0001 a0071c0043t0030	a0009c0009t0004g0152 a0037c0032t0004g0157 a0047c0037t0028g0156 others(2): Show a0009c0009t0004g0152 a0037c0032t0004g0157 a0047c0037t0028g0156 a0048c0028t0001g0141 a0071c0043t0030g0277	5	282	0.0177	-15	c.300 others(32): Show c.3000+882_3000+896delAAAAAAAAAAAAAAA	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	25/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1_chr6_51610299_52092613	51690271	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01106.hp1 others(39): Show HG01071.hp1 HG01071.hp2 HG01106.hp1 HG02015.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG04184.hp2 HG06807.hp2 NA18971.hp2 NA18975.hp2 NA18988.hp1 NA18989.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp2 NA19054.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0023 a0025 a0029 a0033 a0034 a0035 a0039 a0040 a0043 a0048	a0001c0001 a0001c0009 a0001c0010 others(27): Show a0001c0001 a0001c0009 a0001c0010 a0001c0022 a0001c0035 a0001c0061 a0001c0081 a0001c0082 a0001c0094 a0002c0021 a0003c0013 a0003c0015 a0003c0042 a0003c0049 a0004c0008 a0004c0044 a0005c0038 a0008c0003 a0009c0057 a0010c0031 a0023c0024 a0025c0050 a0029c0069 a0033c0062 a0034c0053 a0035c0052 a0039c0058 a0040c0026 a0043c0072 a0048c0075	a0001c0001t0001 a0001c0009t0001 a0001c0010t0001 others(27): Show a0001c0001t0001 a0001c0009t0001 a0001c0010t0001 a0001c0022t0001 a0001c0035t0001 a0001c0061t0001 a0001c0081t0001 a0001c0082t0001 a0001c0094t0001 a0002c0021t0004 a0003c0013t0001 a0003c0015t0001 a0003c0042t0001 a0003c0049t0001 a0004c0008t0004 a0004c0044t0015 a0005c0038t0001 a0008c0003t0001 a0009c0057t0001 a0010c0031t0001 a0023c0024t0017 a0025c0050t0001 a0029c0069t0018 a0033c0062t0002 a0034c0053t0006 a0035c0052t0004 a0039c0058t0001 a0040c0026t0001 a0043c0072t0001 a0048c0075t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 others(39): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0009t0001g0103 a0001c0009t0001g0123 a0001c0010t0001g0077 a0001c0010t0001g0078 a0001c0022t0001g0129 a0001c0022t0001g0132 a0001c0035t0001g0016 a0001c0061t0001g0064 a0001c0081t0001g0105 a0001c0082t0001g0125 a0001c0094t0001g0131 a0002c0021t0004g0130 a0003c0013t0001g0052 a0003c0013t0001g0054 a0003c0015t0001g0039 a0003c0042t0001g0046 a0003c0049t0001g0047 a0004c0008t0004g0045 a0004c0044t0015g0057 a0005c0038t0001g0038 a0008c0003t0001g0006 a0008c0003t0001g0008 a0008c0003t0001g0011 a0008c0003t0001g0012 a0009c0057t0001g0073 a0010c0031t0001g0007 a0023c0024t0017g0081 a0025c0050t0001g0035 a0029c0069t0018g0092 a0033c0062t0002g0065 a0034c0053t0006g0086 a0035c0052t0004g0056 a0039c0058t0001g0070 a0040c0026t0001g0004 a0043c0072t0001g0095 a0048c0075t0001g0119	42	134	0.3134	-15	c.101 others(38): Show c.10157-30317_10157-30303delTTTTTTTTTTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	60/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51777679	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02970.hp2 HG03453.hp2 others(1): Show HG01255.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0081 a0002c0020 a0002c0065 others(1): Show a0001c0081 a0002c0020 a0002c0065 a0002c0079	a0001c0081t0001 a0002c0020t0008 a0002c0065t0007 others(1): Show a0001c0081t0001 a0002c0020t0008 a0002c0065t0007 a0002c0079t0007	a0001c0081t0001g0105 a0002c0020t0008g0110 a0002c0065t0007g0068 others(1): Show a0001c0081t0001g0105 a0002c0020t0008g0110 a0002c0065t0007g0068 a0002c0079t0007g0089	4	134	0.0299	-15	c.844 others(34): Show c.8441-1773_8441-1759delTTTTTTTTTTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	53/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51928377	AGTCAGAC others(8): Show AGTCAGACTTCTGTCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG02257.hp1 others(1): Show HG01074.hp2 HG01433.hp1 HG02257.hp1 HG02486.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0093 a0003c0049 a0004c0048 others(1): Show a0001c0093 a0003c0049 a0004c0048 a0005c0041	a0001c0093t0001 a0003c0049t0001 a0004c0048t0019 others(1): Show a0001c0093t0001 a0003c0049t0001 a0004c0048t0019 a0005c0041t0001	a0001c0093t0001g0127 a0003c0049t0001g0047 a0004c0048t0019g0015 others(1): Show a0001c0093t0001g0127 a0003c0049t0001g0047 a0004c0048t0019g0015 a0005c0041t0001g0029	4	134	0.0299	-15	c.612 others(34): Show c.6121+5718_6121+5732delAGACAGAAGTCTGAC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	37/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51941236	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0076 a0006c0076	a0006c0076t0005 a0006c0076t0005	a0006c0076t0005g0088 a0006c0076t0005g0088	1	134	0.0075	-15	c.590 others(34): Show c.5909-6929_5909-6915delAAAAAAAAAAAAAAA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51966885	TGATTGGA others(8): Show TGATTGGATTGGATTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0055 a0009c0055	a0009c0055t0001 a0009c0055t0001	a0009c0055t0001g0082 a0009c0055t0001g0082	1	134	0.0075	-15	c.575 others(34): Show c.5752-6874_5752-6860delCAATCCAATCCAATC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51971708	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0009 a0009	a0009c0086 a0009c0086	a0009c0086t0001 a0009c0086t0001	a0009c0086t0001g0111 a0009c0086t0001g0111	1	134	0.0075	-15	c.575 others(36): Show c.5752-11697_5752-11683delCAAAACAAAACAAAA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar

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