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
GPATCH8_chr17_44390281_44508406	44429686	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	326	0.0031	21	c.349 others(38): Show c.349-5195_349-5194insGTGTGTGTGTGTGTGTGTGTG	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	5/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44453498	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	326	0.0031	21	c.193 others(40): Show c.193+10973_193+10974insACACACACACACACACACACA	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	3/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA21309.hp2 HG02886.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0113 a0001c0001t0001g0030 a0001c0001t0001g0113	2	326	0.0061	21	c.46- others(36): Show c.46-8274_46-8273insATTTTTTTTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03710.hp2 HG02055.hp2 HG02809.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0324 a0001c0001t0001g0061 a0001c0001t0001g0112 a0001c0001t0001g0324	3	326	0.0092	21	c.46- others(36): Show c.46-8274_46-8273insATATTTTTTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18977.hp1 HG02083.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0250 a0001c0003t0001g0178 a0001c0002t0001g0250 a0001c0003t0001g0178	2	326	0.0061	21	c.46- others(36): Show c.46-8274_46-8273insATATATATTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18952.hp2 NA19083.hp1 NA18942.hp1 NA18952.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0282 a0001c0002t0001g0295 a0001c0002t0001g0268 a0001c0002t0001g0282 a0001c0002t0001g0295	3	326	0.0092	21	c.46- others(36): Show c.46-8274_46-8273insATATATATATTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18972.hp1 NA20752.hp2 HG00423.hp1 NA18972.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0010 a0001c0004t0001 a0001c0002t0001 a0001c0002t0010 a0001c0004t0001	a0001c0002t0001g0275 a0001c0002t0010g0217 a0001c0004t0001g0223 a0001c0002t0001g0275 a0001c0002t0010g0217 a0001c0004t0001g0223	3	326	0.0092	21	c.46- others(36): Show c.46-8274_46-8273insATATATATATATTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPBP1_chr5_57169059_57269673	57249797	C C	CCCCTTCC others(14): Show CCCCTTCCTTCCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0150 a0003c0005t0002g0151	2	290	0.0069	21	c.972 others(36): Show c.972+224_972+225insTTCCTTCCCCCTCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249797	C C	CCCTGTCC others(14): Show CCCTGTCCTTCCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03831.hp1 HG02273.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0065 a0001c0001t0012g0075 a0001c0001t0001g0065 a0001c0001t0012g0075	2	290	0.0069	21	c.972 others(36): Show c.972+223_972+224insTGTCCTTCCCCCTCCCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249861	T T	TCCCTCCT others(14): Show TCCCTCCTTCCCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	290	0.0035	21	c.972 others(36): Show c.972+297_972+298insCTTCCCCTCCCCTCCTTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249865	T T	TCCTTCCC others(14): Show TCCTTCCCCCCCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA20129.hp1 HG01069.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0095 a0001c0001t0001g0066 a0001c0001t0001g0095	2	290	0.0069	21	c.972 others(36): Show c.972+297_972+298insCCCCCTCCTTCCCCCTTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249868	T T	TTCCCCCT others(14): Show TTCCCCCTTCCCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	290	0.0035	21	c.972 others(36): Show c.972+297_972+298insCTTCCCCCTCCCTCCATCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC5_chr13_91393621_92872237	91621761	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp2 HG02615.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0011 a0001c0001t0001g0031	2	42	0.0476	21	c.326 others(40): Show c.326-71426_326-71425insATATATATATATATATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	92031800	A A	AATATGTA others(14): Show AATATGTAATATATTACATATT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	42	0.0238	21	c.140 others(44): Show c.1402-113026_1402-113025insGTAATATATTACATATTATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92064756	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG03041.hp1 others(1): Show HG02622.hp1 HG02896.hp2 HG03041.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0037 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0002g0037 a0001c0001t0003g0003	4	42	0.0952	21	c.140 others(42): Show c.1402-80062_1402-80061insAAAAAAAAAAAAAAAAAAAAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92257546	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0007 a0001c0001t0001g0013	2	42	0.0476	21	c.156 others(44): Show c.1561+112558_1561+112578dupTTTTTTTTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93632545	G G	GACTGCAG others(14): Show GACTGCAGTGAACTGCAATCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01433.hp1 HG01433.hp2 others(14): Show HG01256.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp2 HG02258.hp1 HG02615.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04228.hp2 NA19043.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0003t0026 a0002c0002t0002 a0002c0002t0003 a0003c0004t0003	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0003g0065 a0001c0001t0004g0070 a0001c0001t0007g0034 a0001c0001t0012g0002 a0001c0001t0016g0035 a0001c0001t0021g0053 a0001c0001t0024g0014 a0001c0001t0027g0005 a0001c0003t0026g0006 a0002c0002t0002g0039 a0002c0002t0002g0064 a0002c0002t0003g0011 a0003c0004t0003g0054	17	76	0.2237	21	c.319 others(40): Show c.319+87126_319+87127insTGCAGTGAACTGCAATCCTAC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5540504	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0291 a0001c0001t0009g0291	1	386	0.0026	21	c.71 others(32): Show c.7156_*7157insAAAAAAAAAAAAAAAAAAAAA	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		3934		chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5568220	A A	AATATACT others(14): Show AATATACTTAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01074.hp1 others(42): Show HG00423.hp2 HG00438.hp2 HG01074.hp1 HG01261.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03486.hp1 HG03579.hp1 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18979.hp2 NA18982.hp1 NA18993.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19072.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0005 a0002c0002t0006 a0002c0002t0044 others(3): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047 a0003c0009t0006	a0002c0002t0005g0005 a0002c0002t0005g0099 a0002c0002t0005g0185 others(40): Show a0002c0002t0005g0005 a0002c0002t0005g0099 a0002c0002t0005g0185 a0002c0002t0005g0186 a0002c0002t0005g0187 a0002c0002t0005g0196 a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0332 a0002c0002t0005g0333 a0002c0002t0005g0334 a0002c0002t0005g0335 a0002c0002t0005g0337 a0002c0002t0005g0339 a0002c0002t0005g0340 a0002c0002t0005g0341 a0002c0002t0005g0342 a0002c0002t0005g0343 a0002c0002t0005g0344 a0002c0002t0005g0345 a0002c0002t0005g0347 a0002c0002t0006g0006 a0002c0002t0006g0251 a0002c0002t0006g0254 a0002c0002t0006g0346 a0002c0002t0006g0350 a0002c0002t0006g0355 a0002c0002t0006g0356 a0002c0002t0006g0358 a0002c0002t0006g0359 a0002c0002t0006g0362 a0002c0002t0006g0363 a0002c0002t0006g0364 a0002c0002t0006g0368 a0002c0002t0006g0369 a0002c0002t0006g0370 a0002c0002t0006g0371 a0002c0002t0006g0373 a0002c0002t0006g0374 a0002c0002t0044g0338 a0002c0002t0046g0331 a0002c0002t0047g0357 a0003c0009t0006g0330	45	386	0.1166	21	c.115 others(38): Show c.1150-681_1150-661dupATATATATATACTAAGTATAT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5568228	T T	TAGTATAT others(14): Show TAGTATATATATATATATACTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02922.hp1 HG02615.hp2 HG02622.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0351 a0002c0002t0005g0353 a0002c0002t0005g0354 a0002c0002t0005g0351 a0002c0002t0005g0353 a0002c0002t0005g0354	3	386	0.0078	21	c.115 others(38): Show c.1150-669_1150-668insTAGTATATATATATATATACT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	12/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5590542	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 NA20752.hp1 HG01069.hp2 HG01071.hp2 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0023 a0001c0004t0013 a0001c0004t0023	a0001c0004t0013g0376 a0001c0004t0023g0377 a0001c0004t0023g0378 a0001c0004t0013g0376 a0001c0004t0023g0377 a0001c0004t0023g0378	3	386	0.0078	21	c.231 others(38): Show c.231+2784_231+2785insTTTTTTTTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	4/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615204	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0352 a0002c0002t0006g0352	1	386	0.0026	21	c.-43 others(32): Show c.-4392_-4391insATATATTTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4199		chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615204	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0006 a0001c0001t0004 a0002c0002t0006	a0001c0001t0004g0360 a0002c0002t0006g0362 a0001c0001t0004g0360 a0002c0002t0006g0362	2	386	0.0052	21	c.-43 others(32): Show c.-4392_-4391insATATATATTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4199		chr20	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	234	0.0043	21	c.114 others(42): Show c.1144+11930_1144+11931insAAAAAAAAAAATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	234	0.0043	21	c.114 others(42): Show c.1144+11930_1144+11931insAAAAAAAAATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02897.hp2 NA18993.hp1 HG01943.hp2 HG02897.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0150	3	234	0.0128	21	c.114 others(42): Show c.1144+11930_1144+11931insAAAAAAATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	67070715	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	234	0.0043	21	c.114 others(42): Show c.1144+11930_1144+11931insAAATATATATATATATATATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218025	A A	AACACCAC others(14): Show AACACCACCCAATACCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0002 a0001c0003t0008g0002	1	106	0.0094	21	c.25 others(32): Show c.2507_*2508insACACCACCCAATACCACCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		856		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218041	A A	ACCCCCAC others(14): Show ACCCCCACACCACCCAACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG02109.hp1 others(46): Show HG01175.hp2 HG01934.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18948.hp2 NA18951.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0002c0002t0001 a0003c0005t0002	a0001c0001t0001g0010 a0001c0001t0004g0007 a0001c0001t0004g0008 others(11): Show a0001c0001t0001g0010 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0006g0005 a0001c0001t0006g0014 a0001c0001t0007g0007 a0001c0001t0014g0012 a0001c0001t0015g0011 a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0008g0002 a0001c0003t0010g0002 a0002c0002t0001g0001 a0003c0005t0002g0003	49	106	0.4623	21	c.25 others(32): Show c.2523_*2524insCCCCCACACCACCCAACACCG	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		872		chr8	TogoVar
GPI_chr19_34360196_34407413	34377334	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0218 a0001c0001t0011g0218	1	314	0.0032	21	c.403 others(36): Show c.403-169_403-168insTATATATATATATATATATAT	GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	4/17			chr19	TogoVar
GPI_chr19_34360196_34407413	34379985	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	314	0.0032	21	c.750 others(36): Show c.750+427_750+428insTTTTTTTTTTTTTTTTTTTTT	GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPM6A_chr4_175627937_175817264	175637327	T T	TTATATTA others(14): Show TTATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	270	0.0037	21	c.685 others(38): Show c.685-2271_685-2270insTTATATATTATATATAATATA	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	6/6			chr4	TogoVar
GPM6A_chr4_175627937_175817264	175671477	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	270	0.0037	21	c.387 others(38): Show c.387+2182_387+2202dupTTTTTTTTTTTTTTTTTTTTT	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	3/6			chr4	TogoVar
GPN2_chr1_26871132_26895283	26873745	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	21	c.59 others(32): Show c.5931_*5932insAAAAAAAAAAAAAAAAAAAAA	GPN2	ENSG00000142751.15	transcript	ENST00000374135.9	protein_coding		2386		chr1	TogoVar
GPN3_chr12_110447486_110473257	110450831	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA18957.hp2 HG02683.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	324	0.0062	21	c.22 others(32): Show c.2202_*2203insTTTTTTTTTTTTTTTTTTTTT	GPN3	ENSG00000111231.9	transcript	ENST00000228827.8	protein_coding		1654		chr12	TogoVar
GPN3_chr12_110447486_110473257	110450831	C C	CAAAACAA others(14): Show CAAAACAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	324	0.0031	21	c.22 others(32): Show c.2202_*2203insTTTTTTTTTTTTTTTTGTTTT	GPN3	ENSG00000111231.9	transcript	ENST00000228827.8	protein_coding		1654		chr12	TogoVar
GPR107_chr9_130048906_130145164	130056924	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	306	0.0033	21	c.141 others(38): Show c.141+2858_141+2878dupAAAAAAAAAAAAAAAAAAAAA	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR107_chr9_130048906_130145164	130085754	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG03098.hp1 others(4): Show HG01175.hp1 HG02145.hp2 HG03098.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0002t0007	a0001c0001t0002g0150 a0001c0001t0013g0192 a0001c0001t0014g0034 others(4): Show a0001c0001t0002g0150 a0001c0001t0013g0192 a0001c0001t0014g0034 a0001c0001t0028g0203 a0001c0001t0031g0001 a0001c0001t0034g0289 a0001c0002t0007g0133	7	306	0.0229	21	c.565 others(36): Show c.565-649_565-648insTTTTTTTTTTTTTTTTTTTTT	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR107_chr9_130048906_130145164	130087805	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0035 a0002c0003t0018g0035	1	306	0.0033	21	c.621 others(38): Show c.621+1349_621+1350insAAAAAAAAAAAAAAAAAAAAA	GPR107	ENSG00000148358.21	transcript	ENST00000347136.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPR137B_chr1_236137539_236213907	236178785	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 NA19063.hp2 HG01261.hp2 HG02129.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0054 a0001c0001t0001g0331 a0001c0001t0005g0058 a0001c0001t0001g0054 a0001c0001t0001g0331 a0001c0001t0005g0058	3	386	0.0078	21	c.687 others(36): Show c.687+159_687+179dupTTTTTTTTTTTTTTTTTTTTT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR139_chr16_20023239_20078890	20074924	A A	AGAGAGAG others(14): Show AGAGAGAGAAGAGAGAGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0232 a0001c0001t0059g0232	1	364	0.0028	21	c.-13 others(32): Show c.-1309_-1308insCCCCTCTCTCTCTTCTCTCTC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding		1035		chr16	TogoVar
GPR139_chr16_20023239_20078890	20074946	G G	GGGGGGGA others(14): Show GGGGGGGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0198 a0001c0002t0015g0198	1	364	0.0028	21	c.-13 others(32): Show c.-1331_-1330insTCTCTCTCTCTCTCTCCCCCC	GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding		1057		chr16	TogoVar
GPR143_chrX_9720346_9770847	9770357	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	270	0.0037	21	c.-45 others(32): Show c.-4541_-4540insTCTCTCTCTCTCTCTCTCTCT	GPR143	ENSG00000101850.13	transcript	ENST00000467482.6	protein_coding		4511		chrX	TogoVar
GPR158_chr10_25170001_25607229	25324831	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp1 HG03195.hp1 others(1): Show HG02809.hp2 HG02965.hp1 HG03195.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0005c0005t0002 a0001c0001t0001 a0005c0005t0001 a0005c0005t0002	a0001c0001t0001g0025 a0001c0001t0001g0108 a0005c0005t0001g0150 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0108 a0005c0005t0001g0150 a0005c0005t0002g0151	4	162	0.0247	21	c.100 others(42): Show c.1009-71077_1009-71076insCTTTCTTTCTTTCTTTCTTTT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR158_chr10_25170001_25607229	25433547	T T	TGTGTGTG others(14): Show TGTGTGTGTTGTGTGTGTGTTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03453.hp1 NA18906.hp2 HG02896.hp1 HG03453.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010	a0002c0002t0001g0024 a0002c0002t0003g0022 a0002c0002t0010g0159 a0002c0002t0001g0024 a0002c0002t0003g0022 a0002c0002t0010g0159	3	162	0.0185	21	c.133 others(42): Show c.1335+21074_1335+21075insGTGTGTGTTGTGTGTGTGTTG	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	4/10			chr10	TogoVar
GPR161_chr1_168074542_168141930	168108486	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	340	0.0029	21	c.-44 others(38): Show c.-44-3613_-44-3593dupTTTTTTTTTTTTTTTTTTTTT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR173_chrX_53043789_53085615	53081596	G G	GGAAGGGG others(14): Show GGAAGGGGCAGAAGCGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	208	0.0048	21	c.38 others(32): Show c.3853_*3854insGAAGGGGCAGAAGCGGGGGGT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding		982		chrX	TogoVar
GPR176_chr15_39794008_39925266	39893264	T T	TTGTGTCC others(14): Show TTGTGTCCCTGGGTACTTGAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	312	0.0032	21	c.172 others(40): Show c.172+26570_172+26590dupTCTCAAGTACCCAGGGACACA	GPR176	ENSG00000166073.12	transcript	ENST00000561100.2	protein_coding	1/2			chr15	TogoVar
GPR180_chr13_94596857_94639661	94618420	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03453.hp2 others(1): Show HG02451.hp2 HG02886.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0154 others(1): Show a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0154 a0001c0001t0003g0168	4	344	0.0116	21	c.506 others(36): Show c.506-727_506-707dupTTTTTTTTTTTTTTTTTTTTT	GPR180	ENSG00000152749.8	transcript	ENST00000376958.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR19_chr12_12655890_12701183	12657326	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	412	0.0024	21	c.38 others(32): Show c.3874_*3875insCTTTCTTTCTTTCTTTCTTTT	GPR19	ENSG00000183150.8	transcript	ENST00000651487.1	protein_coding		3563		chr12	TogoVar

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