Joint Open Genome and Omics Platform (JoGo)

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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	44483154	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0123 a0001c0001t0001g0126	2	326	0.0061	15	c.46- others(30): Show c.46-8266_46-8252dupTTTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18982.hp2 NA19083.hp2 NA18941.hp2 NA18982.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0001g0280 a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0002t0001g0280	3	326	0.0092	15	c.46- others(30): Show c.46-8274_46-8273insATTTTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03098.hp2 HG01884.hp1 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0001t0001 a0001c0001t0016 a0001c0002t0001	a0001c0001t0001g0128 a0001c0001t0016g0127 a0001c0002t0001g0016 a0001c0001t0001g0128 a0001c0001t0016g0127 a0001c0002t0001g0016	3	326	0.0092	15	c.46- others(30): Show c.46-8274_46-8273insATATTTTTTTTTTTT	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7			chr17	TogoVar
GPBP1_chr5_57169059_57269673	57211576	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG01934.hp2 others(16): Show HG00438.hp2 HG01928.hp1 HG01934.hp2 HG02135.hp1 HG02155.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp1 NA18939.hp2 NA18946.hp1 NA18995.hp1 NA19011.hp1 NA19012.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0016 a0004c0007t0002 a0001c0001t0002 a0001c0001t0016 a0004c0007t0002	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(16): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0016g0012 a0004c0007t0002g0144	19	290	0.0655	15	c.-57 others(32): Show c.-57-2485_-57-2471dupTTGTTGTTGTTGTTG	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57229230	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	290	0.0035	15	c.64- others(30): Show c.64-1593_64-1579dupAAAAAAAAAAAAAAA	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57229941	G G	GCGTCCCG others(8): Show GCGTCCCGTCCCGTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00642.hp1 others(32): Show HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG02165.hp2 HG02300.hp2 HG02630.hp2 HG02738.hp2 HG02922.hp2 HG03225.hp2 HG03490.hp2 HG03654.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18945.hp2 NA18977.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(32): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0141 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0004g0173 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0176 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0007g0002	35	290	0.1207	15	c.64- others(28): Show c.64-888_64-874dupGTCCCGTCCCGTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPC3_chrX_133530745_133990594	133661568	T T	TTCTCTCT others(8): Show TTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0148 a0001c0001t0006g0148	1	152	0.0066	15	c.141 others(32): Show c.1413+161_1413+162insGGAGAGAGAGAGAGA	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133841215	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	152	0.0066	15	c.338 others(34): Show c.338-87054_338-87040dupAAAAAAAAAAAAAAA	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	2/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133863648	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00673.hp1 others(11): Show HG00140.hp1 HG00621.hp1 HG00673.hp1 HG02109.hp2 HG02647.hp1 HG03579.hp1 HG03704.hp1 HG06807.hp1 NA18747.hp1 NA18952.hp1 NA18995.hp1 NA19004.hp1 NA19030.hp1 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0003c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0075 others(11): Show a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0002t0002g0061 a0001c0002t0002g0084 a0001c0002t0009g0152 a0003c0005t0001g0151	14	152	0.0921	15	c.337 others(34): Show c.337+89387_337+89401dupAAAAAAAAAAAAAAA	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	2/7			chrX	TogoVar
GPC3_chrX_133530745_133990594	133983750	T T	TTTCTCCT others(8): Show TTTCTCCTTACTGTTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0001 a0001c0003t0004g0001	1	152	0.0066	15	c.175 others(32): Show c.175+1524_175+1525insCAACAGTAAGGAGAA	GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	1/7			chrX	TogoVar
GPC4_chrX_133295103_133420489	133327686	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	221	0.0045	15	c.320 others(32): Show c.320-3151_320-3150insCACACACACACACAC	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	2/8			chrX	TogoVar
GPC4_chrX_133295103_133420489	133404546	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG03225.hp1 others(3): Show HG00621.hp1 HG00741.hp2 HG03225.hp1 NA18940.hp1 NA18981.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0021 a0001c0001t0003 a0002c0002t0002 a0002c0002t0021	a0001c0001t0003g0123 a0001c0001t0003g0176 a0002c0002t0002g0115 others(3): Show a0001c0001t0003g0123 a0001c0001t0003g0176 a0002c0002t0002g0115 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0021g0177	6	221	0.0272	15	c.160 others(34): Show c.160+10245_160+10259dupTTTTTTTTTTTTTTT	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/8			chrX	TogoVar
GPC5_chr13_91393621_92872237	91416454	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0030 a0002c0002t0004g0026 a0001c0001t0001g0030 a0002c0002t0004g0026	2	42	0.0476	15	c.163 others(34): Show c.163+17253_163+17267dupTATTATTATTATTAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91503817	A A	AATAATCA others(8): Show AATAATCATCATCATC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0026 a0002c0002t0004g0026	1	42	0.0238	15	c.325 others(34): Show c.325+54897_325+54898insAATCATCATCATCAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91621761	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03239.hp2 HG03471.hp2 HG02809.hp1 HG03239.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0020 a0001c0001t0003g0002 a0002c0002t0001g0008 a0001c0001t0001g0020 a0001c0001t0003g0002 a0002c0002t0001g0008	3	42	0.0714	15	c.326 others(34): Show c.326-71426_326-71425insATATATATATATATA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	91650750	G G	GTTTTGTT others(8): Show GTTTTGTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0008 a0002c0002t0002g0015 a0002c0002t0001g0008 a0002c0002t0002g0015	2	42	0.0476	15	c.326 others(34): Show c.326-42433_326-42432insGTTTTGTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91650750	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	42	0.0238	15	c.326 others(34): Show c.326-42433_326-42432insGTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91650750	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG01891.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0002g0009 a0001c0001t0001g0030 a0001c0001t0002g0009	2	42	0.0476	15	c.326 others(34): Show c.326-42429_326-42415dupTTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	91665505	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp2 HG02896.hp1 others(3): Show HG01261.hp1 HG01891.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0039 a0001c0001t0003g0004	6	42	0.1429	15	c.326 others(34): Show c.326-27672_326-27671insTTTCTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92004457	A A	AATTATAT others(8): Show AATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 HG03486.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0036 a0003c0003t0001g0010 a0001c0001t0002g0036 a0003c0003t0001g0010	2	42	0.0476	15	c.140 others(36): Show c.1401+96400_1401+96401insATTATATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	6/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	92257546	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0025 a0001c0001t0001g0029	2	42	0.0476	15	c.156 others(38): Show c.1561+112564_1561+112578dupTTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92398428	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	42	0.0238	15	c.156 others(38): Show c.1561+253447_1561+253461dupAAAAAAAAAAAAAAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92436293	T T	TGTGTAAA others(8): Show TGTGTAAACAAATACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02896.hp1 others(3): Show HG02615.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0002g0034 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0041 a0004c0006t0001g0028	6	42	0.1429	15	c.156 others(38): Show c.1561+291304_1561+291305insGTGTAAACAAATACA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GPC5_chr13_91393621_92872237	92685545	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp1 HG01891.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0018 a0001c0001t0001g0021	2	42	0.0476	15	c.156 others(38): Show c.1562-180723_1562-180709dupAATTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92685547	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	42	0.0238	15	c.156 others(38): Show c.1562-180724_1562-180723insTTAATTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92685561	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	42	0.0238	15	c.156 others(38): Show c.1562-180707_1562-180706insATTTTTTTTTTTTTA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92692754	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03486.hp1 HG03579.hp1 HG02280.hp1 HG03486.hp1 HG03579.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0002 a0005c0005t0002 a0001c0001t0001 a0002c0002t0002 a0005c0005t0002	a0001c0001t0001g0032 a0002c0002t0002g0015 a0005c0005t0002g0035 a0001c0001t0001g0032 a0002c0002t0002g0015 a0005c0005t0002g0035	3	42	0.0714	15	c.156 others(38): Show c.1562-173520_1562-173506dupTTTTTTTTTTTTTTT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92748311	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG02809.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0002c0002t0001g0008 a0001c0001t0001g0033 a0002c0002t0001g0008	2	42	0.0476	15	c.156 others(38): Show c.1562-117947_1562-117933dupATTATTATTATTATT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92748311	T T	TTTTTTAT others(8): Show TTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	42	0.0238	15	c.156 others(38): Show c.1562-117969_1562-117968insTTTATTATTATTATT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC5_chr13_91393621_92872237	92751302	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	42	0.0238	15	c.156 others(38): Show c.1562-114980_1562-114979insAAAAAAAAAAAAAAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7			chr13	TogoVar
GPC6_chr13_93221807_94413020	93744528	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	76	0.0132	15	c.320 others(34): Show c.320-85614_320-85600dupTTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93789580	T T	TATATATA others(8): Show TATATATATATAATAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	76	0.0132	15	c.320 others(34): Show c.320-40573_320-40559dupATATATATATAATAC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93832114	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0069 a0001c0001t0032g0027 a0001c0001t0001g0069 a0001c0001t0032g0027	2	76	0.0263	15	c.711 others(32): Show c.711+1569_711+1570insTATATATATATATAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8			chr13	TogoVar
GPC6_chr13_93221807_94413020	93891872	A A	AGTGTGTG others(8): Show AGTGTGTGTGTATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	76	0.0132	15	c.711 others(34): Show c.711+61334_711+61348dupGTGTATATTGTGTGT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93930275	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01256.hp2 HG02451.hp1 others(6): Show HG01167.hp1 HG01256.hp2 HG02451.hp1 HG02647.hp1 HG02818.hp2 HG03540.hp2 NA19043.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0003t0030 a0002c0002t0008 a0002c0002t0033 a0003c0004t0003	a0001c0001t0001g0009 a0001c0001t0004g0042 a0001c0001t0004g0067 others(6): Show a0001c0001t0001g0009 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0005g0050 a0001c0001t0019g0074 a0001c0003t0030g0024 a0002c0002t0008g0044 a0002c0002t0033g0041 a0003c0004t0003g0054	9	76	0.1184	15	c.712 others(34): Show c.712-97441_712-97440insTTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93995161	C C	CTATTTTA others(8): Show CTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0066 a0001c0001t0025g0066	1	76	0.0132	15	c.712 others(34): Show c.712-32541_712-32527dupATTTTATTTTATTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94081844	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0013 a0001c0001t0023g0013	1	76	0.0132	15	c.877 others(34): Show c.877+53964_877+53965insTTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	94178025	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02615.hp1 others(13): Show HG01884.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0035 a0004c0005t0018	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0004g0070 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0004g0070 a0001c0001t0005g0050 a0001c0001t0005g0062 a0001c0001t0006g0068 a0001c0001t0009g0016 a0001c0001t0016g0018 a0001c0001t0019g0074 a0001c0001t0020g0061 a0001c0001t0021g0053 a0001c0001t0023g0013 a0001c0001t0024g0014 a0001c0001t0032g0027 a0001c0001t0035g0073 a0004c0005t0018g0012	16	76	0.2105	15	c.878 others(36): Show c.878-108313_878-108312insTTTTTTTTTTTTTTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPCPD1_chr20_5539439_5616006	5581814	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19083.hp2 NA19056.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0276 a0002c0002t0005g0277	2	386	0.0052	15	c.350 others(32): Show c.350-1698_350-1684dupAAAAAAAAAAAAAAA	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	6/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5590542	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp1 HG02258.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0006	a0001c0001t0003g0299 a0002c0002t0006g0374 a0001c0001t0003g0299 a0002c0002t0006g0374	2	386	0.0052	15	c.231 others(32): Show c.231+2784_231+2785insTTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding	4/19			chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5612364	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03453.hp2 NA18906.hp2 HG02055.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0139 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0004g0139 a0001c0001t0016g0008 a0001c0001t0016g0009	3	386	0.0078	15	c.-15 others(26): Show c.-1552_-1551insGTTTTGTTTTGTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		1359		chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615191	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19076.hp2 NA19064.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0256 a0001c0001t0004g0301 a0001c0001t0001g0256 a0001c0001t0004g0301	2	386	0.0052	15	c.-43 others(26): Show c.-4379_-4378insTTTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4186		chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615204	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA18993.hp2 HG04115.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0328 a0001c0001t0004g0315 a0001c0001t0001g0328 a0001c0001t0004g0315	2	386	0.0052	15	c.-43 others(26): Show c.-4392_-4391insATTTTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4199		chr20	TogoVar
GPCPD1_chr20_5539439_5616006	5615204	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02523.hp1 HG01123.hp2 HG01884.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0188 a0001c0001t0004g0227 a0001c0001t0004g0238 a0001c0001t0001g0188 a0001c0001t0004g0227 a0001c0001t0004g0238	3	386	0.0078	15	c.-43 others(26): Show c.-4392_-4391insATATTTTTTTTTTTT	GPCPD1	ENSG00000125772.14	transcript	ENST00000379019.7	protein_coding		4199		chr20	TogoVar
GPD1_chr12_50099008_50116313	50112907	C C	CGTTATGT others(8): Show CGTTATGTTATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01167.hp1 others(86): Show HG00438.hp1 HG00558.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0002t0012 a0001c0003t0001 a0002c0004t0002 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0004g0006 a0001c0001t0013g0001 a0001c0002t0012g0003 a0001c0003t0001g0001 a0002c0004t0002g0001 a0006c0010t0001g0010	89	406	0.2192	15	c.33 others(26): Show c.3388_*3389insGTTATGTTATGTTAT	GPD1	ENSG00000167588.13	transcript	ENST00000301149.8	protein_coding		1595		chr12	TogoVar
GPD2_chr2_156431379_156591403	156459686	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19006.hp2 HG02559.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0012 a0001c0001t0001 a0002c0002t0012	a0001c0001t0001g0042 a0002c0002t0012g0073 a0001c0001t0001g0042 a0002c0002t0012g0073	2	254	0.0079	15	c.-8- others(32): Show c.-8-16403_-8-16389dupAAAAAAAAAAAAAAA	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPD2_chr2_156431379_156591403	156561040	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19000.hp1 NA19006.hp1 others(2): Show HG01261.hp2 NA19000.hp1 NA19006.hp1 NA19062.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0041 a0001c0001t0001g0218 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0245 a0001c0001t0016g0039	5	254	0.0197	15	c.116 others(34): Show c.1165+3469_1165+3483dupTTTTTTTTTTTTTTT	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPHN_chr14_66503147_67186803	66932444	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	234	0.0043	15	c.828 others(32): Show c.828+8174_828+8188dupTTTTTTTTTTTTTTT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143211453	G G	GTGGAGGA others(8): Show GTGGAGGAGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18948.hp2 HG02602.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0012 a0001c0001t0015g0011 a0001c0001t0014g0012 a0001c0001t0015g0011	2	106	0.0189	15	c.-18 others(26): Show c.-1815_-1814insTGGAGGAGGCGGGGC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1764		chr8	TogoVar
GPI_chr19_34360196_34407413	34377332	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0126 a0001c0002t0012g0126	1	314	0.0032	15	c.403 others(30): Show c.403-171_403-170insTATATATATATATAT	GPI	ENSG00000105220.17	transcript	ENST00000356487.11	protein_coding	4/17			chr19	TogoVar

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