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
TMEM185A_chrX_149591556_149636792	149605264	TCTTTCTA others(121): Show TCTTTCTATAGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATG GCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCC CATGTCACTTTCTATAGCCTCCCATGTCA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20752.hp1 HG00733.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	2	259	0.0077	-128	c.424 others(17): Show c.424-1322_424-1195del	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TNC_chr9_115014575_115123157	115069606	CCCTCCCT others(121): Show CCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0012 a0021c0028t0012	a0021c0028t0012g0259 a0021c0028t0012g0259	1	366	0.0027	-128	c.321 others(19): Show c.3214+3869_3214+3996del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	10/27			chr9	TogoVar
TSPAN9_chr12_3072379_3291559	3095541	GGGCAGAG others(121): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18983.hp1 NA18984.hp1 others(4): Show NA18943.hp2 NA18983.hp1 NA18984.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0093 a0001c0001t0107 a0001c0002t0102	a0001c0001t0001g0193 a0001c0001t0004g0210 a0001c0001t0004g0211 others(4): Show a0001c0001t0001g0193 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0006g0242 a0001c0001t0093g0270 a0001c0001t0107g0212 a0001c0002t0102g0166	7	288	0.0243	-128	c.-18 others(19): Show c.-18+11848_-18+11975del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTLL8_chr22_50013575_50063298	50028997	CCCCATCA others(121): Show CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCAT CCTGAAGACCCCACACACCCTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0017 a0003c0003t0002g0017	1	224	0.0045	-128	c.225 others(19): Show c.2251+1305_2251+1432del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TYMS_chr18_652653_678578	667208	GTGATGGA others(121): Show GTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGATGGT GATGGAGATGGTGATGGTGATGGGATGGTGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0362 a0001c0001t0004g0362	1	482	0.0021	-128	c.455 others(17): Show c.455-1861_455-1734del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UBR1_chr15_42937897_43111038	43074245	CTATATCT others(121): Show CTATATCTGGGCTTGCTCAAACTTCTTTATTTCCTTGACTGGGATATATC TATGTAATCTAATTGACATTTTCTTTAAGAAAAGCAATTACTGAATTTAT ATATCAGCTCTACACTTCTAATTCACTAT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	276	0.0036	-128	c.528 others(15): Show c.528+606_528+733del	UBR1	ENSG00000159459.12	transcript	ENST00000290650.9	protein_coding	4/46			chr15	TogoVar
UGT1A10_chr2_233631448_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	302	0.0033	-128	c.856 others(19): Show c.856-42881_856-42754del	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	350	0.0029	-128	c.-50 others(11): Show c.-5050_-4923del	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding		4965		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	332	0.0030	-128	c.867 others(17): Show c.867+4466_867+4593del	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	330	0.0030	-128	c.867 others(19): Show c.867+10295_867+10422del	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	332	0.0030	-128	c.861 others(19): Show c.861+30288_861+30415del	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	320	0.0031	-128	c.855 others(19): Show c.855+41361_855+41488del	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	290	0.0035	-128	c.856 others(19): Show c.856-42881_856-42754del	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233724076	AGAGGGGC others(121): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	318	0.0031	-128	c.856 others(19): Show c.856-42881_856-42754del	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
USP40_chr2_233470526_233571782	233567660	ATAGCTAT others(121): Show ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0018 a0004c0004t0018	a0004c0004t0018g0063 a0004c0004t0018g0063	1	324	0.0031	-128	c.-11 others(10): Show c.-1124_-997del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		879		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(121): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0012 a0012	a0012c0034 a0012c0034	a0012c0034t0021 a0012c0034t0021	a0012c0034t0021g0106 a0012c0034t0021g0106	1	324	0.0031	-128	c.-11 others(11): Show c.-1128_-1001del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		883		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(121): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA19003.hp1 NA18956.hp2 NA19003.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0003 a0003c0003t0002 a0004c0004t0003	a0003c0003t0002g0278 a0004c0004t0003g0078 a0003c0003t0002g0278 a0004c0004t0003g0078	2	324	0.0062	-128	c.-11 others(11): Show c.-1154_-1027del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		909		chr2	TogoVar
UVSSA_chr4_1342208_1393049	1364175	CTTGTGTG others(121): Show CTTGTGTGGCCTGGCTCCGTGGGGGCCACCTCCCGGCAGGGTGCTGGTGC CCGGGCCCCGTGGCCTTGTGTGGCCTGGCTCTGTGGGGGCCACCTCCCGG CAGGGTGCTGGTGCCCGGGCCCCGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(46): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01255.hp1 HG01884.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG03130.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18951.hp1 NA18959.hp2 NA18971.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA19030.hp2 NA19054.hp2 NA19057.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0010 a0001c0004t0001 a0001c0004t0044 others(1): Show a0001c0003t0010 a0001c0004t0001 a0001c0004t0044 a0003c0002t0021	a0001c0003t0010g0092 a0001c0004t0001g0005 a0001c0004t0001g0010 others(40): Show a0001c0003t0010g0092 a0001c0004t0001g0005 a0001c0004t0001g0010 a0001c0004t0001g0022 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0239 a0001c0004t0001g0240 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0263 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0004t0001g0269 a0001c0004t0001g0272 a0001c0004t0001g0280 a0001c0004t0044g0238 a0003c0002t0021g0270 a0003c0002t0021g0271	49	400	0.1225	-128	c.117 others(19): Show c.1177-2111_1177-1984del	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VEZT_chr12_95212807_95307799	95235193	GTGGCCGG others(121): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGCTGACCC CCACCCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19068.hp1 NA19067.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0316 a0001c0003t0006g0371 a0001c0001t0002g0316 a0001c0003t0006g0371	2	426	0.0047	-128	c.37- others(17): Show c.37-16676_37-16549del	VEZT	ENSG00000028203.19	transcript	ENST00000436874.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
VSIR_chr10_71742556_71778520	71760138	CATATATA others(121): Show CATATATATGTGTGTATATATATGTATATACATATATATGTGTGTATATA TATGTATATACATATATATGTGTGTATATATGTGTATATATATGTATATA CATATATATGTATGTATATATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0125 a0002c0002t0005g0125	1	462	0.0022	-128	c.568 others(15): Show c.568+602_568+729del	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
WDR27_chr6_169452212_169707029	169660838	CTGGCCTG others(121): Show CTGGCCTGGCTGTGAGCTCTCCGCAGGAGTGGGGAGTGTGGGCGTTGGGC CCCACGTGCGCCCCCTGGCCTGGCTGTGAGCTCTCCGCAGGAGTGGGGAG CGTGGGCGTTGGGCCCCACGTGCGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(39): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp1 HG01891.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18953.hp1 NA18956.hp1 NA18973.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19005.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0005 a0008 a0011 others(2): Show a0005 a0008 a0011 a0017 a0036	a0005c0004 a0005c0042 a0005c0052 others(6): Show a0005c0004 a0005c0042 a0005c0052 a0008c0009 a0008c0038 a0011c0014 a0017c0040 a0017c0041 a0036c0043	a0005c0004t0002 a0005c0004t0009 a0005c0004t0022 others(11): Show a0005c0004t0002 a0005c0004t0009 a0005c0004t0022 a0005c0004t0023 a0005c0042t0002 a0005c0052t0002 a0008c0009t0002 a0008c0009t0011 a0008c0038t0011 a0011c0014t0002 a0011c0014t0005 a0017c0040t0005 a0017c0041t0002 a0036c0043t0002	a0005c0004t0002g0039 a0005c0004t0002g0077 a0005c0004t0002g0078 others(39): Show a0005c0004t0002g0039 a0005c0004t0002g0077 a0005c0004t0002g0078 a0005c0004t0002g0080 a0005c0004t0002g0083 a0005c0004t0002g0085 a0005c0004t0002g0087 a0005c0004t0002g0088 a0005c0004t0002g0089 a0005c0004t0002g0090 a0005c0004t0002g0091 a0005c0004t0002g0094 a0005c0004t0002g0095 a0005c0004t0002g0096 a0005c0004t0002g0097 a0005c0004t0002g0098 a0005c0004t0002g0099 a0005c0004t0009g0285 a0005c0004t0009g0286 a0005c0004t0009g0287 a0005c0004t0009g0288 a0005c0004t0009g0289 a0005c0004t0009g0290 a0005c0004t0009g0291 a0005c0004t0009g0292 a0005c0004t0009g0293 a0005c0004t0022g0284 a0005c0004t0023g0294 a0005c0042t0002g0093 a0005c0052t0002g0079 a0008c0009t0002g0081 a0008c0009t0002g0082 a0008c0009t0002g0084 a0008c0009t0002g0101 a0008c0009t0011g0037 a0008c0038t0011g0038 a0011c0014t0002g0103 a0011c0014t0002g0104 a0011c0014t0005g0105 a0017c0040t0005g0086 a0017c0041t0002g0040 a0036c0043t0002g0102	42	294	0.1429	-128	c.102 others(16): Show c.1026-200_1026-73del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	9/25			chr6	TogoVar
XG_chrX_2747040_2821500	2773486	GGAAGGAA others(121): Show GGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02004.hp2 HG01069.hp2 HG01071.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0273 a0001c0001t0001g0001 a0001c0001t0001g0273	3	322	0.0093	-128	c.104 others(17): Show c.104-1198_104-1071del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773518	AGAAGGAA others(121): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02257.hp1 NA19070.hp1 others(1): Show HG00733.hp2 HG02257.hp1 NA19070.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0040 a0001c0001t0006g0254 a0001c0001t0010g0177 others(1): Show a0001c0001t0002g0040 a0001c0001t0006g0254 a0001c0001t0010g0177 a0001c0001t0012g0203	4	322	0.0124	-128	c.104 others(16): Show c.104-1086_104-959del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773630	AGAAGGAA others(121): Show AGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01257.hp2 HG01258.hp2 others(5): Show HG01106.hp1 HG01257.hp2 HG01258.hp2 HG02602.hp1 HG02735.hp1 HG03491.hp1 HG03831.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014	a0001c0001t0001g0221 a0001c0001t0002g0291 a0001c0001t0002g0299 others(5): Show a0001c0001t0001g0221 a0001c0001t0002g0291 a0001c0001t0002g0299 a0001c0001t0010g0050 a0001c0001t0010g0286 a0001c0001t0011g0152 a0001c0001t0014g0207 a0001c0001t0014g0258	8	322	0.0248	-128	c.104 others(15): Show c.104-991_104-864del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
YTHDC2_chr5_113508694_113600284	113586880	TATATATA others(121): Show TATATATAATATATAAATATATATTATGTATTCATATATAATATATAAAT ATATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATA TATAATATATAAATATATATTATGTATTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00733.hp1 others(3): Show HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG03710.hp1 NA18946.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0017 a0004c0005 a0001c0001 a0001c0017 a0004c0005	a0001c0001t0001 a0001c0017t0001 a0004c0005t0001 a0001c0001t0001 a0001c0017t0001 a0004c0005t0001	a0001c0001t0001g0065 a0001c0001t0001g0159 a0001c0001t0001g0171 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0017t0001g0155 a0004c0005t0001g0074 a0004c0005t0001g0080	6	316	0.0190	-128	c.382 others(19): Show c.3825+2887_3825+3014del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZIM3_chr19_57129096_57150202	57137842	GGAAGGAA others(121): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0102 a0001c0007t0004g0102	1	418	0.0024	-128	c.142 others(15): Show c.142+502_142+629del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZIM3_chr19_57129096_57150202	57137874	GGAAGGAA others(121): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAAGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0153 a0003c0003t0001g0154	2	418	0.0048	-128	c.142 others(15): Show c.142+470_142+597del	ZIM3	ENSG00000141946.1	transcript	ENST00000269834.1	protein_coding	3/4			chr19	TogoVar
ZNF329_chr19_58121248_58155789	58147660	GCCCGGCC others(121): Show GCCCGGCCAGCCGCCCTGTCTGGGAGATGAGGGGCGCCTCTGCCCGGCTG CCCCACTGGGAAGTGAGGAGACCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02572.hp1 others(15): Show HG01109.hp2 HG01891.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0002c0002t0004	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0006g0046 a0001c0001t0006g0050 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0063 a0002c0002t0004g0048	18	422	0.0427	-128	c.-20 others(19): Show c.-208+2964_-208+3091del	ZNF329	ENSG00000181894.15	transcript	ENST00000598312.6	protein_coding	1/3			chr19	TogoVar
ZNF330_chr4_141215895_141239697	141234658	ATTTTATT others(121): Show ATTTTATTTCTCTTTGAATAAATCTATTATTTCACTTAAATACTTTTGAC ATTATATTTAATTTTTTGTTCTGTATTTTCAGTTTGTTTTGGAAAGCATT CTAATTTTTTTACAAACTGCTTCAGTTTT	A A	splice_region_variant others(1): Show splice_region_variant downstream_gene_variant	LOW	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	350	0.0029	-128	c.67 others(9): Show c.670_*797del	ZNF330	ENSG00000109445.11	transcript	ENST00000262990.9	protein_coding	10/10	0		chr4	TogoVar
ZNF641_chr12_48332180_48355919	48332507	CAGAGGGG others(121): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	408	0.0025	-128	c.10 others(13): Show c.10338_*10465del	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4672		chr12	TogoVar
ZNF713_chr7_55882456_55947225	55887720	GGCGGGGG others(121): Show GGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCG GAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGGGCGGCGG GCGGCGGGCGGCGGGCGGCGGGCGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01255.hp1 others(11): Show HG00673.hp1 HG01099.hp2 HG01255.hp1 HG02135.hp2 HG02970.hp2 HG03516.hp1 NA18951.hp2 NA18978.hp1 NA18982.hp2 NA18997.hp1 NA19002.hp1 NA19011.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0047 others(3): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0080	a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 others(11): Show a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0017g0285 a0001c0001t0017g0286 a0001c0001t0047g0292 a0001c0001t0048g0294 a0001c0001t0054g0297 a0001c0001t0080g0298	14	410	0.0342	-128	c.-58 others(16): Show c.-583+42_-583+169del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF723_chr19_22827291_22863667	22862490	TATGTAAT others(121): Show TATGTAATATAATATATATATTATATATGTAATATAATATATAATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG02922.hp2 others(6): Show HG00597.hp1 HG00741.hp1 HG02922.hp2 NA18747.hp2 NA18957.hp2 NA18990.hp2 NA19004.hp2 NA19090.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0002c0002t0002g0039 a0002c0002t0002g0057 a0002c0002t0002g0221 others(6): Show a0002c0002t0002g0039 a0002c0002t0002g0057 a0002c0002t0002g0221 a0002c0002t0002g0245 a0002c0002t0003g0056 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0004g0036	9	364	0.0247	-128	c.40 others(11): Show c.4058_*4185del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3824		chr19	TogoVar
ZNF784_chr19_55615741_55629566	55625816	TCAAGCGA others(121): Show TCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGC CCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTATATACAGGGTCTC ACCATGTTGGCCAGGCTGGTCTCGAACTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	388	0.0026	-128	c.-13 others(11): Show c.-1383_-1256del	ZNF784	ENSG00000179922.6	transcript	ENST00000325351.5	protein_coding		1251		chr19	TogoVar
ZSWIM7_chr17_15971560_16004704	15979643	CGGGGCGG others(121): Show CGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAA TGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC TGGGCAGAGGCGCCCCTCACCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG03041.hp2 others(2): Show HG02280.hp1 HG02717.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0211 a0001c0001t0006g0215 others(1): Show a0001c0001t0006g0039 a0001c0001t0006g0211 a0001c0001t0006g0215 a0001c0001t0006g0216	5	344	0.0145	-128	c.306 others(17): Show c.306+1269_306+1396del	ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289745	TCCCCCGT others(120): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCGTCCCCCGAGTCTCTGCTCCGT	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	295	0.0034	-127	c.36 others(11): Show c.3692_*3818del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2645		chr1	TogoVar
ACR_chr22_50733204_50750339	50748483	ATCTGAGG others(120): Show ATCTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGAC ATCCGAGGAGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGAC AATCTGAGGGGTGTGCTCACCTAGACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	464	0.0022	-127	c.32 others(11): Show c.3277_*3403del	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3145		chr22	TogoVar
ACR_chr22_50733204_50750339	50748610	TCCGAGGG others(120): Show TCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGTGTGCCCACCTAGACA TCCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACT ATCTGAGGGGTGTGCCCACCTAGACATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02080.hp2 others(20): Show HG00408.hp1 HG00408.hp2 HG02080.hp2 HG02155.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp2 NA18994.hp1 NA18998.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19068.hp2 NA19074.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0052 a0002c0002t0001g0002	23	464	0.0496	-127	c.34 others(11): Show c.3404_*3530del	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3272		chr22	TogoVar
ACYP2_chr2_53966113_54310300	54095668	CCCCACCT others(120): Show CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGTTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	272	0.0037	-127	c.277 others(19): Show c.277+38322_277+38448del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTSL3_chr15_83649123_84044842	83821778	GTGGCCGG others(120): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCTGACC CCCCCAACTCCCTCCCGGATGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	274	0.0037	-127	c.600 others(17): Show c.600+1807_600+1933del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1541278	GCCGCCCA others(120): Show GCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTC CAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCAGACC CCACTCAGACGCAGTTCAGACCCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	-127	c.101 others(21): Show c.101-162245_101-162119del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADSS1_chr14_104719229_104752310	104729589	GGGGAGGA others(120): Show GGGGAGGAGCGTGGCGTCGGCGTCGTGGGGAGGAGCGTGGCGTCGGCGTC GTGGGGAGGAGCGTGGCGTCGGCGTCGTGGGGAGGAGCGTGGCGTCGGCG TCGTGGGGAGGAGCGTGGCGTCGGCGTC	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0271	1	402	0.0025	-127	c.192 others(17): Show c.192+5256_193-5176del	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
AGGF1_chr5_77025404_77070234	77043355	GGGTCTGA others(120): Show GGGTCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGTTGGCCGGGCGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01993.hp1 others(11): Show HG00609.hp1 HG01167.hp1 HG01993.hp1 HG02280.hp2 HG02293.hp1 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03688.hp2 NA19030.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0002t0003 a0001c0004t0007 a0003c0005t0011	a0001c0001t0004g0098 a0001c0001t0004g0105 a0001c0001t0008g0226 others(11): Show a0001c0001t0004g0098 a0001c0001t0004g0105 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0017g0381 a0001c0001t0017g0384 a0001c0002t0003g0319 a0001c0004t0007g0224 a0003c0005t0011g0136 a0003c0005t0011g0189 a0003c0005t0011g0190 a0003c0005t0011g0192	14	438	0.0320	-127	c.871 others(17): Show c.871-2989_871-2863del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGL_chr1_99845361_99929020	99856995	CTCACTTC others(120): Show CTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03927.hp2 HG01167.hp2 HG03927.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0014 a0010c0011t0014	a0010c0011t0014g0204 a0010c0011t0014g0247 a0010c0011t0014g0204 a0010c0011t0014g0247	2	318	0.0063	-127	c.83- others(15): Show c.83-4485_83-4359del	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGR2_chr7_16786811_16809999	16789804	CGGAGCCG others(120): Show CGGAGCCGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCTGCC GGGCCGAGGCGCCCCTCACCTCCCGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02970.hp2 NA18948.hp1 HG02809.hp1 HG02970.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0004 a0001c0001t0004g0150 a0001c0001t0004g0226 a0001c0001t0002g0004 a0001c0001t0004g0150 a0001c0001t0004g0226	3	460	0.0065	-127	c.29 others(11): Show c.2977_*3103del	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		2006		chr7	TogoVar
AGR2_chr7_16786811_16809999	16789871	AGAGGGGC others(120): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCTGCCGGGCCGAGGCGCCCCTC ACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC CCTCCAGGACGGGGCGGCTGGCCGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02559.hp1 others(7): Show HG01099.hp2 HG02486.hp1 HG02559.hp1 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0046 a0001c0001t0005g0080 a0001c0001t0005g0081 others(6): Show a0001c0001t0005g0046 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0154 a0001c0001t0005g0218 a0001c0001t0008g0202	10	460	0.0217	-127	c.29 others(11): Show c.2910_*3036del	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1939		chr7	TogoVar
AHDC1_chr1_27529245_27609144	27608859	TGTGTGTG others(120): Show TGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGGGTGTGT GTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGGTATGTGTGTG TGTGTGTGTCTTCGATACTGTACCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	180	0.0056	-127	c.-57 others(11): Show c.-5743_-5617del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4716		chr1	TogoVar
AHI1_chr6_135278532_135502740	135363920	GGGGCGGC others(120): Show GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0217 a0001c0001t0015g0217	1	220	0.0046	-127	c.311 others(19): Show c.3110-5860_3110-5734del	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
ANXA2_chr15_60342151_60402986	60366621	TCTGGGAA others(120): Show TCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19240.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0243 a0001c0001t0001g0061 a0001c0001t0001g0243	2	334	0.0060	-127	c.149 others(17): Show c.149-2225_149-2099del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60366815	GGTCGGCC others(120): Show GGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGACCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01123.hp1 others(14): Show HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01993.hp2 HG02055.hp1 HG02132.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03490.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0057 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0316	17	334	0.0509	-127	c.149 others(17): Show c.149-2419_149-2293del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60366857	GCCCCCCG others(120): Show GCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0255 a0001c0001t0001g0012 a0001c0001t0001g0255	2	334	0.0060	-127	c.149 others(17): Show c.149-2461_149-2335del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar

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