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
PLCXD1_chrX_276381_308356	277721	GCACGTGG others(126): Show GCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTGGGAT GTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGT GGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(44): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp2 HG02922.hp2 HG03195.hp2 NA18942.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19011.hp1 NA19057.hp1 NA19074.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0002c0005 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0050 a0001c0001t0052 a0001c0001t0061 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0078 a0001c0001t0079 a0001c0001t0099 a0001c0001t0103 a0001c0002t0093 a0001c0002t0098 a0001c0003t0002 a0001c0003t0006 a0001c0003t0014 a0001c0003t0020 a0001c0003t0060 a0001c0003t0063 a0001c0003t0081 a0001c0003t0082 a0001c0006t0003 a0001c0009t0102 a0002c0005t0022 a0007c0012t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0002g0050 a0001c0001t0005g0038 a0001c0001t0005g0081 a0001c0001t0007g0121 a0001c0001t0007g0124 a0001c0001t0009g0075 a0001c0001t0013g0002 a0001c0001t0050g0043 a0001c0001t0052g0068 a0001c0001t0061g0033 a0001c0001t0066g0161 a0001c0001t0068g0034 a0001c0001t0070g0004 a0001c0001t0071g0052 a0001c0001t0072g0001 a0001c0001t0073g0102 a0001c0001t0078g0080 a0001c0001t0079g0001 a0001c0001t0099g0120 a0001c0001t0103g0037 a0001c0002t0093g0137 a0001c0002t0098g0136 a0001c0003t0002g0016 a0001c0003t0002g0018 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0159 a0001c0003t0006g0041 a0001c0003t0006g0042 a0001c0003t0014g0048 a0001c0003t0020g0036 a0001c0003t0020g0056 a0001c0003t0060g0051 a0001c0003t0063g0049 a0001c0003t0081g0057 a0001c0003t0082g0160 a0001c0006t0003g0118 a0001c0009t0102g0032 a0002c0005t0022g0035 a0007c0012t0005g0001	47	176	0.2671	-133	c.-39 others(11): Show c.-3984_-3852del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3659		chrX	TogoVar
PRDM5_chr4_120686915_120927726	120807724	GGATGTGT others(126): Show GGATGTGTTTGGAGTTTCTTCCTTCTGGTGGGTTCATGGTCTCGCTGGCT TCAGGAGTGAAGCTGCAGACTTTCACGGTGAGTGTTACAGTTCTTAAAGG TGGTGTGTCCGGAGTTTGTTCCTTCTGAGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03704.hp2 HG00597.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	298	0.0067	-133	c.945 others(17): Show c.945+3513_945+3645del	PRDM5	ENSG00000138738.11	transcript	ENST00000264808.8	protein_coding	8/15			chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151874188	ATATGTAT others(126): Show ATATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGATG TATATGTATATGTATATGATGTATATGTATATGTATATGATATATATGTA TATGTATATGATGTATATGTATATGTATATGATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	252	0.0040	-133	c.114 others(17): Show c.114+2186_114+2318del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRODH2_chr19_35794988_35817845	35798656	TGCCTCAG others(126): Show TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGAGTGCCACCACGCCT GGCTAATTTTTGTATTTTTAGTAAAGACAGGGTTTCACCATGTTGGGCAG GATGGTTTCGATCTCTTGACCTCGTGATCCGCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA19085.hp2 NA18983.hp1 NA19085.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0259 a0003c0017t0001g0272 a0003c0017t0001g0259 a0003c0017t0001g0272	2	428	0.0047	-133	c.12 others(11): Show c.1249_*1381del	PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding		1331		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	518485	GGGAGGCT others(126): Show GGGAGGCTGAGGCAAGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTG GCCAACATGGCGAAACCCCCTCTCTACTGAAATTACAAAAATTAGCCGGG CGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0054 a0001c0002t0053 a0001c0002t0054	a0001c0002t0053g0271 a0001c0002t0054g0267 a0001c0002t0053g0271 a0001c0002t0054g0267	2	295	0.0068	-133	c.164 others(17): Show c.1641-444_1641-312del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASGEF1C_chr5_180095795_180214211	180113158	CTGGACGG others(126): Show CTGGACGGAGGGACCGGGGATGGACGGAGGGATCCAGGATGGACAGAGGG ACCGGGGATGGACGGAGGGACAGGGGATGGACGGAGGGACCGAGGATGGA CGGAGGGACCGAGGATGGACGGAGGGATCCAGGA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	370	0.0027	-133	c.117 others(19): Show c.1179+1155_1179+1287del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	11/13			chr5	TogoVar
RGS8_chr1_182636818_182689587	182650041	AGCTGGGA others(126): Show AGCTGGGATTACAGGCGTGCGCCACTACGCCTCGCTAATTTTTGTACTTT TAATAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTG ACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02572.hp1 others(4): Show HG01109.hp2 HG01243.hp1 HG02572.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0037 a0001c0001t0060 a0001c0001t0011 a0001c0001t0037 a0001c0001t0060	a0001c0001t0011g0013 a0001c0001t0011g0146 a0001c0001t0011g0149 others(2): Show a0001c0001t0011g0013 a0001c0001t0011g0146 a0001c0001t0011g0149 a0001c0001t0037g0148 a0001c0001t0060g0055	7	300	0.0233	-133	c.194 others(17): Show c.194-1871_194-1739del	RGS8	ENSG00000135824.13	transcript	ENST00000515211.2	protein_coding	6/7			chr1	TogoVar
RHBDL3_chr17_32260832_32329659	32276785	GGCCCTAG others(126): Show GGCCCTAGCACCTTACTCCGGCCCTAGCACAGTACTCCGGCCCTAGCACC TTACTCCGGCCCTAGCACCTTACTCCGGCCCTAGCACAGTACTGCGGCCC TAGCACCTTACTCCGGCCCTAGCACCTTACTCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp2 HG01358.hp1 others(15): Show HG00621.hp1 HG01261.hp2 HG01358.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG03017.hp2 HG03209.hp1 HG03654.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18946.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 others(7): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0032 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0010 a0002c0002t0026	a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0225 others(15): Show a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0017g0179 a0001c0001t0018g0178 a0001c0001t0019g0181 a0001c0001t0032g0206 a0002c0002t0001g0275 a0002c0002t0003g0227 a0002c0002t0003g0228 a0002c0002t0003g0229 a0002c0002t0003g0233 a0002c0002t0009g0230 a0002c0002t0009g0231 a0002c0002t0009g0232 a0002c0002t0010g0180 a0002c0002t0010g0194 a0002c0002t0026g0221	18	306	0.0588	-133	c.136 others(17): Show c.136-7844_136-7712del	RHBDL3	ENSG00000141314.13	transcript	ENST00000269051.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
SASH1_chr6_148337838_148557044	148505878	CGCCCACC others(126): Show CGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC GCCCAGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAG CCAGGATGGTCTCGATCTCCTGAGCTCGTGATCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0006 a0004c0019t0006	a0004c0019t0006g0074 a0004c0019t0006g0074	1	322	0.0031	-133	c.730 others(17): Show c.730-8437_730-8305del	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	TTACAGTA others(126): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	332	0.0030	-133	c.632 others(17): Show c.632+8180_632+8312del	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERPINF2_chr17_1737871_1760265	1739381	AGCCGGAC others(126): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	445	0.0023	-133	c.-35 others(11): Show c.-3531_-3399del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3489		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739450	GGCCTGAT others(126): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02280.hp1 others(13): Show HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp1 NA19240.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0014 a0003c0003 a0012c0014	a0003c0003t0001 a0003c0003t0004 a0012c0014t0004 a0003c0003t0001 a0003c0003t0004 a0012c0014t0004	a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0043 others(8): Show a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0043 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0102 a0003c0003t0004g0013 a0003c0003t0004g0026 a0003c0003t0004g0097 a0003c0003t0004g0101 a0012c0014t0004g0098	16	445	0.0360	-133	c.-34 others(11): Show c.-3462_-3330del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3420		chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792013	ATAGAATA others(126): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0192 a0003c0004t0004g0192	1	256	0.0039	-133	c.165 others(17): Show c.165+5304_165+5436del	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SLC12A7_chr5_1045384_1117063	1070648	CAGCCCCA others(126): Show CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0021 a0001c0017t0004g0021	1	118	0.0085	-133	c.224 others(19): Show c.2241+2852_2241+2984del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071219	GGCATCAC others(126): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	-133	c.224 others(19): Show c.2241+2281_2241+2413del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC28A1_chr15_84879662_84950798	84918802	TGGAATCC others(126): Show TGGAATCCTTTGCTCCTGAGGCCCATACCTTCCCAGAATCCCCAACTCTT AGAGTTCACACCTTCCTAGAATCCCTTGCTTCTGAAGTCCATATCTTCCC TGAACCCCTGGCTCTTAGAGTTCACACCTTCCTA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0071 a0004c0003t0001g0071	1	396	0.0025	-133	c.876 others(15): Show c.876+200_876+332del	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84918820	AGGCCCAT others(126): Show AGGCCCATACCTTCCCAGAATCCCCAACTCTTAGAGTTCACACCTTCCTA GAATCCCTTGCTTCTGAAGTCCATATCTTCCCTGAACCCCTGGCTCTTAG AGTTCACACCTTCCTAGAATCCTTTGCTCCTGAG	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0002 a0003c0026t0002	a0003c0026t0002g0209 a0003c0026t0002g0209	1	396	0.0025	-133	c.876 others(15): Show c.876+218_876+350del	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC39A14_chr8_22362278_22427736	22396391	GAGAGAGA others(126): Show GAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18980.hp1 HG02602.hp1 NA18980.hp1	a0003 a0006 a0003 a0006	a0003c0001 a0006c0018 a0003c0001 a0006c0018	a0003c0001t0001 a0006c0018t0001 a0003c0001t0001 a0006c0018t0001	a0003c0001t0001g0218 a0006c0018t0001g0103 a0003c0001t0001g0218 a0006c0018t0001g0103	2	324	0.0062	-133	c.-15 others(17): Show c.-15-8304_-15-8172del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(126): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0031 a0001c0005t0003g0031	1	324	0.0031	-133	c.-15 others(17): Show c.-15-8273_-15-8141del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(126): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18981.hp2 NA19007.hp2 others(1): Show NA18980.hp2 NA18981.hp2 NA19007.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0002 a0001c0007t0006 a0001c0004t0002 a0001c0007t0006	a0001c0004t0002g0186 a0001c0004t0002g0192 a0001c0004t0002g0194 others(1): Show a0001c0004t0002g0186 a0001c0004t0002g0192 a0001c0004t0002g0194 a0001c0007t0006g0228	4	324	0.0124	-133	c.-15 others(17): Show c.-15-8272_-15-8140del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC43A2_chr17_1564268_1633834	1573768	CGCCACCA others(126): Show CGCCACCACGCCCGATTAATGTTTATTTTTAGTACAGACGGGGTTTCTCC ATGTTGGTCAGGATGGTCTCGAACTCCTGACCTCAGGTGAGCCTCCTGCC TTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03710.hp2 HG03491.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0094 a0001c0001t0078 a0001c0001t0094	a0001c0001t0078g0123 a0001c0001t0094g0101 a0001c0001t0078g0123 a0001c0001t0094g0101	2	382	0.0052	-133	c.17 others(11): Show c.1703_*1835del	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	14/14	1703		chr17	TogoVar
SMAD2_chr18_47803957_47935659	47850370	ATATTATA others(126): Show ATATTATATATATTATATAATATATATTATATATTATGTATAATATATAT AATATATTATATATATTATGTATAATATATATTATATATTATACATAATA TATATTATATATTATATATTATGTATAATATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG03516.hp2 others(1): Show HG02572.hp1 HG03139.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 others(1): Show a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251	a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 others(1): Show a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305	4	310	0.0129	-133	c.784 others(15): Show c.784+771_784+903del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPANXC_chrX_141236463_141247517	141243321	AGCTGGGA others(126): Show AGCTGGGATTACAGGCCTGTGCCACCACGCCCGGCTAATTTTTGTATTTT TAGGAGAGACGGGGGTCTCACCATCTTGGCCAAGCTGGTCTTGAACTCCT GACCTCGTGATCCACCCGCCTTGGCCTCCAAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	344	0.0029	-133	c.-99 others(9): Show c.-997_-865del	SPANXC	ENSG00000198573.7	transcript	ENST00000358993.3	protein_coding		805		chrX	TogoVar
STAC_chr3_36375504_36553007	36398426	AGGAAGGA others(126): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAGGGAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAAAGAGAGAG AAAGAAAGAAAGAGAGGTAAAGAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00738.hp1 others(6): Show HG00099.hp1 HG00423.hp1 HG00738.hp1 HG02055.hp1 NA19062.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0023 others(6): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0023 a0001c0002t0003g0026 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0005g0045	9	316	0.0285	-133	c.111 others(19): Show c.111+17714_111+17846del	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STON1_chr2_48525154_48603513	48564475	TCTTCTTT others(126): Show TCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCT CCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18950.hp2 NA20752.hp2 HG01358.hp1 NA18950.hp2 NA20752.hp2	a0002 a0019 a0020 a0002 a0019 a0020	a0002c0002 a0019c0028 a0020c0022 a0002c0002 a0019c0028 a0020c0022	a0002c0002t0002 a0019c0028t0001 a0020c0022t0001 a0002c0002t0002 a0019c0028t0001 a0020c0022t0001	a0002c0002t0002g0221 a0019c0028t0001g0339 a0020c0022t0001g0346 a0002c0002t0002g0221 a0019c0028t0001g0339 a0020c0022t0001g0346	3	376	0.0080	-133	c.-47 others(19): Show c.-47-16106_-47-15974del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48564481	TTCTTCTT others(126): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCT CCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0015 a0002c0002t0029g0015	1	376	0.0027	-133	c.-47 others(19): Show c.-47-16105_-47-15973del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3			chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890304	CTTCTTCT others(126): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0004 a0005c0033t0004	a0005c0033t0004g0016 a0005c0033t0004g0016	1	98	0.0102	-133	c.139 others(17): Show c.139+7989_139+8121del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNK2_chr3_195858364_195913551	195874662	AGAAGCTC others(126): Show AGAAGCTCCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAAC TCTCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAGGAAGCTCCCC TCGGGATGGCGCCCACGCACGCTCCGAGGCACAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0093 a0001c0014t0004g0093	1	372	0.0027	-133	c.125 others(19): Show c.1257-2325_1257-2193del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195874979	CCCCTCGG others(126): Show CCCCTCGGGATGGCGCCCACGCACGCTCCGAGGCACAAGAAACTCCCCCT CGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0010 a0002c0008t0001g0010	1	372	0.0027	-133	c.125 others(19): Show c.1257-2642_1257-2510del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875023	CCCCCTCG others(126): Show CCCCCTCGGGATGGCGCCCACGCACGCTCGGAGGCACAGGAAGCTCCCCC TCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGGGA TGGCGCCCACGCACACTCCGAGGCACAAGAAGCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0093 a0001c0014t0004g0093	1	372	0.0027	-133	c.125 others(19): Show c.1257-2686_1257-2554del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TNK2_chr3_195858364_195913551	195875065	GCTCCCCC others(126): Show GCTCCCCCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCC CCTCGGGATGGCGCCCACGCACACTCCGAGGCACAAGAAGCTCCCCTCGG GATGGCGCCCACGCACGCTCCGAGGCACAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00735.hp1 others(11): Show HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01993.hp1 HG02080.hp1 HG02273.hp1 HG03492.hp2 HG03834.hp1 NA18978.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0024 a0002c0008 others(4): Show a0001c0002 a0001c0024 a0002c0008 a0002c0010 a0002c0041 a0003c0005 a0003c0030	a0001c0002t0001 a0001c0024t0001 a0002c0008t0002 others(4): Show a0001c0002t0001 a0001c0024t0001 a0002c0008t0002 a0002c0010t0001 a0002c0041t0001 a0003c0005t0001 a0003c0030t0001	a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0048 others(11): Show a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0048 a0001c0024t0001g0189 a0001c0024t0001g0190 a0002c0008t0002g0253 a0002c0010t0001g0035 a0002c0010t0001g0043 a0002c0041t0001g0026 a0003c0005t0001g0033 a0003c0005t0001g0042 a0003c0005t0001g0055 a0003c0005t0001g0058 a0003c0030t0001g0360	14	372	0.0376	-133	c.125 others(19): Show c.1257-2728_1257-2596del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	9/15			chr3	TogoVar
TOP1MT_chr8_143304324_143339880	143323544	CCACACAC others(126): Show CCACACACGCACGCCACACACATGCACGCCACACACACAGGCACGCCACA CACACACGCACGCCACACACACAGGCACGCCACACACGCACGCCACACGC ACGCCACACACATGCTCACCACACACGCACGCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00738.hp1 others(61): Show HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02735.hp2 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG06807.hp1 NA18943.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18998.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0018 a0020	a0001c0001 a0001c0008 a0010c0014 others(3): Show a0001c0001 a0001c0008 a0010c0014 a0011c0015 a0018c0025 a0020c0019	a0001c0001t0001 a0001c0008t0001 a0010c0014t0001 others(3): Show a0001c0001t0001 a0001c0008t0001 a0010c0014t0001 a0011c0015t0001 a0018c0025t0001 a0020c0019t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(58): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0285 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0349 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0008t0001g0220 a0010c0014t0001g0312 a0011c0015t0001g0133 a0011c0015t0001g0134 a0018c0025t0001g0339 a0020c0019t0001g0229	64	430	0.1488	-133	c.960 others(15): Show c.960+322_960+454del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP3A_chr17_18266428_18319994	18279452	TTCACCAT others(126): Show TTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCT GGCCATTTTTTGTATTTTTAGTAGAGACAGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00642.hp2 others(94): Show HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18950.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA19003.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19083.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0011 a0012	a0001c0002 a0001c0004 a0002c0003 others(6): Show a0001c0002 a0001c0004 a0002c0003 a0003c0006 a0004c0007 a0006c0008 a0009c0015 a0011c0011 a0012c0017	a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 others(14): Show a0001c0002t0004 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0022 a0001c0004t0007 a0001c0004t0010 a0001c0004t0016 a0001c0004t0019 a0002c0003t0005 a0002c0003t0023 a0003c0006t0006 a0004c0007t0008 a0006c0008t0006 a0009c0015t0004 a0011c0011t0021 a0012c0017t0004	a0001c0002t0004g0003 a0001c0002t0004g0010 a0001c0002t0004g0011 others(88): Show a0001c0002t0004g0003 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0059 a0001c0002t0004g0061 a0001c0002t0004g0062 a0001c0002t0004g0063 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0068 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0080 a0001c0002t0004g0081 a0001c0002t0004g0082 a0001c0002t0004g0084 a0001c0002t0004g0085 a0001c0002t0004g0086 a0001c0002t0004g0087 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0017g0083 a0001c0002t0018g0067 a0001c0002t0020g0089 a0001c0002t0022g0069 a0001c0004t0007g0032 a0001c0004t0007g0033 a0001c0004t0007g0034 a0001c0004t0007g0035 a0001c0004t0007g0036 a0001c0004t0007g0037 a0001c0004t0010g0031 a0001c0004t0010g0040 a0001c0004t0010g0041 a0001c0004t0010g0042 a0001c0004t0016g0039 a0001c0004t0019g0038 a0002c0003t0005g0013 a0002c0003t0005g0094 a0002c0003t0005g0095 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0005g0098 a0002c0003t0005g0099 a0002c0003t0005g0100 a0002c0003t0005g0101 a0002c0003t0005g0102 a0002c0003t0005g0103 a0002c0003t0023g0093 a0003c0006t0006g0110 a0003c0006t0006g0111 a0003c0006t0006g0112 a0003c0006t0006g0113 a0003c0006t0006g0114 a0003c0006t0006g0115 a0004c0007t0008g0026 a0004c0007t0008g0027 a0004c0007t0008g0028 a0004c0007t0008g0029 a0004c0007t0008g0030 a0006c0008t0006g0116 a0006c0008t0006g0117 a0009c0015t0004g0060 a0011c0011t0021g0092 a0012c0017t0004g0072	97	388	0.2500	-133	c.214 others(18): Show c.2144+951_2144+1083del	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	17/18			chr17	TogoVar
TRAPPC9_chr8_139722725_140462744	140195553	CTAAAACA others(126): Show CTAAAACACACTCAACTATCCACTGTACAGATCACACCTGTGACACTAAA ACACTCAGCAATCCACTGTACAGCTCGCACCTGTGACACTAAAACACACT CAATGATCCACTACACAGCTCGCACCTGTGACAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0023 a0001c0008t0018g0023	1	98	0.0102	-133	c.255 others(21): Show c.2556+25773_2556+25905del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TSPAN32_chr11_2297013_2323204	2308428	CCCCGCAG others(126): Show CCCCGCAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCAGC CCCCCATAGTGACCGGCCCCCCACAGTGACCAGCCCCCCGCAATGACCAG CCCCCAACAGTGACCAGCCCCCCATAGTGACCGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG02976.hp2 others(9): Show HG02622.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp2 HG06807.hp1 NA18940.hp2 NA18945.hp2 NA18971.hp1 NA18978.hp1 NA18997.hp1 NA19000.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0267 a0001c0001t0002g0219	12	412	0.0291	-133	c.280 others(15): Show c.280-304_280-172del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TTLL11_chr9_121810674_122098308	121879722	TTTGGGAG others(126): Show TTTGGGAGGCTGAGGTGGGAGAACTGCTTGAAGCCCTGAATCTAGACCAG GCTGGGCAACATAGCGAGACCCCACTTCTACAAAAAATTAAAAATTAGTC AGCTCTGGTGGTACGCACCTGCGGTCCTAACTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(125): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18954.hp2 NA18968.hp1 NA18968.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010	a0001c0001 a0001c0007 a0001c0011 others(11): Show a0001c0001 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0002c0003 a0002c0008 a0003c0002 a0004c0005 a0004c0006 a0005c0004 a0006c0018 a0007c0009 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0007t0006 a0001c0007t0011 a0001c0007t0012 a0001c0007t0051 a0001c0011t0037 a0001c0015t0018 a0001c0016t0047 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0017 a0002c0003t0029 a0002c0003t0039 a0002c0008t0011 a0002c0008t0025 a0002c0008t0053 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0006 a0003c0002t0009 a0003c0002t0019 a0003c0002t0022 a0003c0002t0023 a0003c0002t0024 a0003c0002t0032 a0003c0002t0058 a0004c0005t0001 a0004c0005t0005 a0004c0005t0006 a0004c0005t0009 a0004c0005t0012 a0004c0005t0013 a0004c0005t0030 a0004c0005t0046 a0004c0006t0001 a0004c0006t0005 a0004c0006t0042 a0005c0004t0001 a0005c0004t0003 a0005c0004t0016 a0005c0004t0033 a0006c0018t0048 a0007c0009t0004 a0010c0010t0008	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 others(125): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0002g0084 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0106 a0001c0001t0003g0119 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0004g0101 a0001c0001t0004g0110 a0001c0001t0004g0150 a0001c0001t0006g0121 a0001c0001t0006g0134 a0001c0001t0007g0077 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0141 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0058 a0001c0001t0014g0068 a0001c0001t0014g0086 a0001c0001t0015g0067 a0001c0001t0015g0081 a0001c0001t0016g0125 a0001c0001t0017g0133 a0001c0001t0021g0061 a0001c0001t0021g0063 a0001c0001t0026g0128 a0001c0001t0027g0069 a0001c0001t0036g0070 a0001c0001t0038g0075 a0001c0001t0040g0137 a0001c0001t0041g0065 a0001c0001t0043g0122 a0001c0001t0044g0080 a0001c0001t0045g0145 a0001c0001t0049g0094 a0001c0001t0050g0129 a0001c0001t0056g0117 a0001c0007t0006g0073 a0001c0007t0011g0060 a0001c0007t0011g0095 a0001c0007t0012g0083 a0001c0007t0012g0152 a0001c0007t0051g0111 a0001c0011t0037g0053 a0001c0015t0018g0151 a0001c0016t0047g0072 a0002c0003t0001g0001 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0020 a0002c0003t0002g0013 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0017g0008 a0002c0003t0029g0004 a0002c0003t0039g0010 a0002c0008t0011g0005 a0002c0008t0025g0014 a0002c0008t0053g0021 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0002g0165 a0003c0002t0003g0156 a0003c0002t0004g0157 a0003c0002t0004g0158 a0003c0002t0004g0162 a0003c0002t0004g0163 a0003c0002t0006g0166 a0003c0002t0006g0167 a0003c0002t0009g0159 a0003c0002t0019g0168 a0003c0002t0022g0154 a0003c0002t0023g0153 a0003c0002t0024g0171 a0003c0002t0032g0172 a0003c0002t0058g0155 a0004c0005t0001g0025 a0004c0005t0005g0037 a0004c0005t0006g0042 a0004c0005t0009g0039 a0004c0005t0009g0040 a0004c0005t0009g0041 a0004c0005t0012g0038 a0004c0005t0013g0052 a0004c0005t0030g0045 a0004c0005t0046g0036 a0004c0006t0001g0048 a0004c0006t0005g0044 a0004c0006t0042g0050 a0005c0004t0001g0026 a0005c0004t0001g0028 a0005c0004t0001g0032 a0005c0004t0001g0051 a0005c0004t0003g0027 a0005c0004t0003g0030 a0005c0004t0016g0031 a0005c0004t0033g0034 a0006c0018t0048g0174 a0007c0009t0004g0023 a0010c0010t0008g0024	128	174	0.7356	-133	c.148 others(19): Show c.1482-9107_1482-8975del	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL12_chr22_43161622_43192134	43184964	TCACGTCT others(126): Show TCACGTCTGTAATCCCAACACTTCGGGAGGCCAAAGCGGGCGGATCACGA GGTCAGGAATTCGAGATCAGCCTGACCAACATGGTGAAGCCCCATCTCTA CTAAAAATACAAAAATTAGCTGGGTGTGGTGGCG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	394	0.0025	-133	c.177 others(17): Show c.177+1796_178-1816del	TTLL12	ENSG00000100304.13	transcript	ENST00000216129.7	protein_coding	1/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028775	ACCCCATC others(126): Show ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCCA TCACGCTGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCCATCACA CCATCCTAAAGACCCCACATACCCTCGTAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	224	0.0045	-133	c.225 others(19): Show c.2251+1522_2251+1654del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292075	GTGTCCCT others(126): Show GTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCAT GTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCAC ACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	284	0.0035	-133	c.121 others(17): Show c.1214+291_1214+423del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292082	TCCGTGTC others(126): Show TCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCG TGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGT GTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	284	0.0035	-133	c.121 others(17): Show c.1214+284_1214+416del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UBE2J2_chr1_1248912_1278854	1249417	GCCCTGGG others(126): Show GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	324	0.0031	-133	c.56 others(11): Show c.5653_*5785del	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4494		chr1	TogoVar
WDR81_chr17_1719704_1743585	1739450	GGCCTGAT others(126): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02451.hp1 others(13): Show HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03579.hp2 HG06807.hp1 NA19240.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0026 a0001c0042 others(1): Show a0001c0007 a0001c0026 a0001c0042 a0004c0043	a0001c0007t0001 a0001c0026t0001 a0001c0042t0001 others(1): Show a0001c0007t0001 a0001c0026t0001 a0001c0042t0001 a0004c0043t0001	a0001c0007t0001g0005 a0001c0007t0001g0055 a0001c0007t0001g0056 others(3): Show a0001c0007t0001g0005 a0001c0007t0001g0055 a0001c0007t0001g0056 a0001c0026t0001g0028 a0001c0042t0001g0054 a0004c0043t0001g0096	16	431	0.0371	-133	c.17 others(11): Show c.1766_*1898del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		866		chr17	TogoVar
XPA_chr9_97669909_97702340	97690517	AGCTGGGA others(126): Show AGCTGGGATTACAGGCACGCACCACCATGCCCAGTTAATTCTTGTATTTT TAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGATCTCCTA ACCTCGTGATCCACCCACCTCAGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19076.hp2 NA19079.hp2 others(2): Show NA18940.hp2 NA19076.hp2 NA19079.hp2 NA19085.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	5	414	0.0121	-133	c.284 others(16): Show c.284-1011_284-879del	XPA	ENSG00000136936.11	transcript	ENST00000375128.5	protein_coding	2/5			chr9	TogoVar
XXYLT1_chr3_195063284_195276159	195272798	AGTAGGCA others(126): Show AGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCT GAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGA GATCATAACACTGCACTCCAGCCTGGGCGACAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0094 a0001c0001t0011g0094	1	198	0.0051	-133	c.-18 others(11): Show c.-1873_-1741del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1640		chr3	TogoVar
ZFAND1_chr8_81696337_81726300	81720858	TTCAGGAA others(126): Show TTCAGGAATTGCATGGCTTCCTTCCAAGGAGACCACACGTCATTTCAAAA GCTCACGGCCAAAAAAAACCCGCACCAACCGATCTCACTGCAGCCCCAGA AGAAACGCTCCCACCCCGCTCCTCAGGCCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01074.hp1 others(3): Show HG00323.hp2 HG00741.hp1 HG01074.hp1 HG02698.hp2 HG03688.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0031 a0001c0001t0003g0081 a0001c0001t0003g0018 a0001c0001t0003g0031 a0001c0001t0003g0081	6	378	0.0159	-133	c.55+ others(13): Show c.55+236_55+368del	ZFAND1	ENSG00000104231.11	transcript	ENST00000220669.10	protein_coding	1/7			chr8	TogoVar
ZFR2_chr19_3799024_3874038	3820807	GGGTCACA others(126): Show GGGTCACATGGCACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCG GGGGACACAGGGACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCG GGGGACACAGGGACACCGGGGGTCGGGGGACACA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18969.hp1 NA18983.hp1 others(3): Show NA18939.hp2 NA18969.hp1 NA18983.hp1 NA18990.hp2 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0193 a0001c0001t0003g0187 a0001c0001t0003g0195 others(3): Show a0001c0001t0002g0193 a0001c0001t0003g0187 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0222	6	398	0.0151	-133	c.163 others(17): Show c.1631+400_1632-518del	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZMYM4_chr1_35263709_35427058	35391781	GCCTGTAA others(126): Show GCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTC AGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AATACAAAAAATTAGCTGGGTGTGGTGCTGCGCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0265 a0001c0003t0003g0265	1	298	0.0034	-133	c.258 others(17): Show c.2588-424_2588-292del	ZMYM4	ENSG00000146463.12	transcript	ENST00000314607.11	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF511_chr10_133303914_133318161	133317813	CCCCCCCC others(126): Show CCCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCA CACCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02965.hp2 HG01081.hp2 HG01109.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0002g0017 a0001c0002t0001g0002 a0001c0002t0001g0018 a0001c0002t0002g0017	3	282	0.0106	-133	c.49 others(11): Show c.4948_*5080del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4653		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317915	CCCCCCCC others(126): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCAGACACAGA GATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACAC CCCCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	282	0.0036	-133	c.50 others(11): Show c.5050_*5182del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4755		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317948	CCCCCCCC others(126): Show CCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAG AGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCAC ACCCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01175.hp2 HG01891.hp2 others(6): Show HG01069.hp2 HG01175.hp2 HG01891.hp2 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02976.hp1 HG03130.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0009	9	282	0.0319	-133	c.50 others(11): Show c.5083_*5215del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4788		chr10	TogoVar

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