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
DNM2_chr19_10713079_10836903	10729058	TAAAAATA others(120): Show TAAAAATATAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01069.hp2 others(30): Show HG00423.hp2 HG00558.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01358.hp2 HG01516.hp2 HG01934.hp2 HG01981.hp2 HG02071.hp1 HG02135.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02922.hp2 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp2 HG04115.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18995.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0009t0002 a0003c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0264 others(30): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0002g0277 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0009t0002g0018 a0003c0008t0001g0267	33	278	0.1187	-127	c.161 others(19): Show c.161+10665_161+10791del	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNMBP_chr10_99870577_100014947	99892001	GGAGCCCC others(120): Show GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCTCCCCGCCCGGCCAGCCACCCCATCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGACGTGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02647.hp1 others(2): Show HG02486.hp1 HG02559.hp2 HG02647.hp1 HG02922.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0002 a0001c0017t0002 a0001c0003t0002 a0001c0017t0002	a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 others(2): Show a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0235 a0001c0017t0002g0144	5	274	0.0183	-127	c.315 others(19): Show c.3156+2818_3156+2944del	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	11/16			chr10	TogoVar
EFCAB13_chr17_47318955_47446312	47398173	AGCCGCCC others(120): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCG CCCGGGAGGTGAGGGGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp1 HG00673.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0309 a0002c0002t0001g0056 a0002c0002t0001g0309	2	356	0.0056	-127	c.194 others(19): Show c.1945+2238_1945+2364del	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EIF3H_chr8_116637130_116760823	116678952	CCCCTCTG others(120): Show CCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02895.hp1 others(1): Show HG01891.hp2 HG02486.hp2 HG02895.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0012g0211 others(1): Show a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0012g0211 a0001c0001t0012g0212	4	336	0.0119	-127	c.290 others(19): Show c.290-20099_290-19973del	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF4G3_chr1_20801479_21181897	21053590	GGTTGGGG others(120): Show GGTTGGGGGGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCAGCCAGCCGCCCCGTCCGGGAAGGAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02559.hp2 HG01081.hp1 HG02559.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0137 a0003c0005t0001g0156 a0003c0005t0001g0137 a0003c0005t0001g0156	2	312	0.0064	-127	c.-19 others(19): Show c.-195-2723_-195-2597del	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21053730	GCCCCCGC others(120): Show GCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCACCTCTGCC CGGCTGCCCCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGGTCAGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03041.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206	3	312	0.0096	-127	c.-19 others(19): Show c.-195-2863_-195-2737del	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
ELANE_chr19_847303_861243	861102	CCTCTCCT others(120): Show CCTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCC CGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCTCT GCACCCTCACCCCGGGTCCAGCCTCGAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	403	0.0025	-127	c.49 others(11): Show c.4939_*5065del	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4860		chr19	TogoVar
ENPEP_chr4_110471155_110570285	110562889	AAAACCTT others(120): Show AAAACCTTAGCTTTAACTTTATTTATACAATAATGTGCCCTAATCATGTA CTCTGAAACTTTATAAACTTTCCTGTTGCTGTTTCTTAATTATCACTTCT CAATCCGTACAGCCAAACTAGTAAATTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0072 a0001c0001t0018g0072	1	312	0.0032	-127	c.13 others(11): Show c.1335_*1461del	ENPEP	ENSG00000138792.10	transcript	ENST00000265162.10	protein_coding	20/20	1335	INFO_REALIGN_3_PRIME	chr4	TogoVar
EPHA6_chr3_96809594_97766532	97269708	CATATAAC others(120): Show CATATAACTTTACGCAATGACCTACACTTACTTGCATATCAGTCATTCTC TTCCAACAAAGTCCCAGTTTATTAAGGATGGAAACAATATATTTTGTATC ATTGTATTCTTCATATCCTGCTGGATGA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0006 a0001c0002t0019g0006	1	82	0.0122	-127	c.160 others(21): Show c.1606+25424_1606+25550del	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERC1_chr12_986223_1500931	1085964	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02818.hp2 HG03139.hp1 others(1): Show HG02109.hp2 HG02818.hp2 HG03139.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0045 a0001c0001t0067 a0002c0002t0047 others(1): Show a0001c0001t0045 a0001c0001t0067 a0002c0002t0047 a0002c0006t0051	a0001c0001t0045g0066 a0001c0001t0067g0121 a0002c0002t0047g0104 others(1): Show a0001c0001t0045g0066 a0001c0001t0067g0121 a0002c0002t0047g0104 a0002c0006t0051g0081	4	162	0.0247	-127	c.108 others(19): Show c.1086+2394_1086+2520del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087007	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0111 a0001c0001t0110 a0001c0001t0111	a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0110g0013 a0001c0001t0111g0017	2	162	0.0124	-127	c.108 others(19): Show c.1086+3437_1086+3563del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087072	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0139 a0002c0002t0066g0139	1	162	0.0062	-127	c.108 others(19): Show c.1086+3502_1086+3628del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1087527	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00738.hp2 others(15): Show HG00408.hp1 HG00544.hp1 HG00738.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2 HG02129.hp2 HG02976.hp2 HG03927.hp2 NA18612.hp2 NA18949.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 others(14): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0087 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0124 a0002c0002t0035 a0002c0002t0115 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096 a0004c0005t0122	a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0010g0009 others(15): Show a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0010g0009 a0001c0001t0011g0034 a0001c0001t0087g0046 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0119g0061 a0001c0001t0124g0050 a0002c0002t0035g0143 a0002c0002t0115g0049 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063 a0004c0005t0122g0057	18	162	0.1111	-127	c.108 others(19): Show c.1086+3957_1086+4083del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088375	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0124 a0001c0001t0124	a0001c0001t0124g0050 a0001c0001t0124g0050	1	162	0.0062	-127	c.108 others(19): Show c.1086+4805_1086+4931del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088558	ATTATTAT others(120): Show ATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCC TATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGAT TACAGGCAATATGCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG01346.hp2 others(5): Show HG00140.hp1 HG01243.hp1 HG01346.hp2 HG02258.hp1 HG02809.hp2 HG02965.hp1 HG03130.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0050 a0001c0001t0062 a0002c0002t0037 others(5): Show a0001c0001t0050 a0001c0001t0062 a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0072 a0002c0002t0100	a0001c0001t0050g0144 a0001c0001t0062g0147 a0002c0002t0037g0042 others(5): Show a0001c0001t0050g0144 a0001c0001t0062g0147 a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0055g0137 a0002c0002t0072g0145 a0002c0002t0100g0134	8	162	0.0494	-127	c.108 others(19): Show c.1086+4990_1086+5116del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088895	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG06807.hp1 NA20752.hp1 HG01256.hp1 HG06807.hp1 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0015 a0001c0001t0097 a0008c0011t0044 a0001c0001t0015 a0001c0001t0097 a0008c0011t0044	a0001c0001t0015g0038 a0001c0001t0097g0031 a0008c0011t0044g0068 a0001c0001t0015g0038 a0001c0001t0097g0031 a0008c0011t0044g0068	3	162	0.0185	-127	c.108 others(19): Show c.1086+5325_1086+5451del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089808	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02809.hp1 others(6): Show HG01891.hp2 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0013t0063 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0013t0063 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0004g0075 a0001c0001t0004g0078 others(6): Show a0001c0001t0001g0076 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0013t0063g0077 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0008c0011t0044g0068	9	162	0.0556	-127	c.108 others(19): Show c.1086+6238_1086+6364del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089873	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0116 a0002c0002t0116	a0002c0002t0116g0107 a0002c0002t0116g0107	1	162	0.0062	-127	c.108 others(19): Show c.1086+6303_1086+6429del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1089938	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	162	0.0062	-127	c.108 others(19): Show c.1086+6368_1086+6494del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090653	GTTGTTGT others(120): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTGTGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01175.hp1 others(20): Show HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG02257.hp1 HG02602.hp2 HG02735.hp2 HG03516.hp2 HG03669.hp2 HG03927.hp1 NA18612.hp1 NA18966.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(18): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0069 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0107 a0001c0001t0109 a0001c0001t0121 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0003t0046 a0002c0002t0084 a0002c0007t0059	a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0010g0009 others(20): Show a0001c0001t0008g0010 a0001c0001t0009g0007 a0001c0001t0010g0009 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0027g0119 a0001c0001t0069g0092 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0097g0031 a0001c0001t0107g0006 a0001c0001t0109g0014 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0001t0125g0033 a0001c0001t0126g0030 a0001c0003t0046g0088 a0002c0002t0084g0025 a0002c0007t0059g0071	23	162	0.1420	-127	c.108 others(19): Show c.1086+7083_1086+7209del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERFL_chr19_41902704_41933449	41914730	TTCCACCA others(120): Show TTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCT CCCCTTCCACCGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCC CTTTCCACCGTCTCTGTCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	330	0.0030	-127	c.-13 others(17): Show c.-13-1925_-13-1799del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ETS1_chr11_128453765_128592558	128584990	GGAAGGAA others(120): Show GGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GGAAAGAAAGAAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG01884.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0218 a0001c0001t0004g0219	2	286	0.0070	-127	c.-15 others(17): Show c.-15+2371_-15+2497del	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
FAM78B_chr1_166064299_166172001	166077837	TTATATAT others(120): Show TTATATATATAATAATATATATAATTTATATATATAATTATATATATAAT AAATATATATAATTTATATATATAATTATATATATAATAAATATATAATA ATATATATAATTTATATATATAATTATA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp2 HG02895.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0193 a0001c0001t0002g0038 a0001c0001t0002g0193	2	318	0.0063	-127	c.264 others(17): Show c.264-7201_264-7075del	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FGR_chr1_27607064_27640185	27608859	TGTGTGTG others(120): Show TGTGTGTGTGTGTGTGTGTGTGTGTCTTCGATACTGTACCTGGGGTGTGT GTGTGTGTGTGTGTGTGTGTCTTCAATACTGTACCTGGGGTATGTGTGTG TGTGTGTGTCTTCGATACTGTACCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	278	0.0036	-127	c.39 others(11): Show c.3928_*4054del	FGR	ENSG00000000938.13	transcript	ENST00000374005.8	protein_coding		3204		chr1	TogoVar
FLT4_chr5_180596506_180654600	180635514	GAGGGTGA others(120): Show GAGGGTGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0088 a0002c0003t0003g0088	1	388	0.0026	-127	c.59- others(15): Show c.59-3863_59-3737del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FSD1_chr19_4299598_4328836	4308728	GGCACCTG others(120): Show GGCACCTGTAGTTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACTCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACCGCACTCC AGCCTGGGCAACAGAGCGAGACTCCGTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18969.hp1 NA19082.hp2 HG00597.hp1 NA18969.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170	3	412	0.0073	-127	c.345 others(15): Show c.345+749_345+875del	FSD1	ENSG00000105255.11	transcript	ENST00000221856.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
GABRG3_chr15_26966181_27546984	27388030	GGAAAGGA others(120): Show GGAAAGGAAGGAAGGAAGGAAAGGTGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAG GAGGGAGGGAGGGTAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG03225.hp2 others(3): Show HG01884.hp2 HG02451.hp1 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0002t0006 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0002t0006 a0001c0005t0002 a0001c0006t0013 a0001c0013t0023 a0001c0018t0004	a0001c0001t0001g0071 a0001c0002t0006g0052 a0001c0005t0002g0055 others(3): Show a0001c0001t0001g0071 a0001c0002t0006g0052 a0001c0005t0002g0055 a0001c0006t0013g0017 a0001c0013t0023g0006 a0001c0018t0004g0053	6	92	0.0652	-127	c.574 others(19): Show c.574+59166_574+59292del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27388054	TGGGAGGG others(120): Show TGGGAGGGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGGAGGAAAGGGAGG GAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAA GGAAGAAAGGAAGGAAGGAAGGAAAGGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0050 a0001c0004t0005g0050	1	92	0.0109	-127	c.574 others(19): Show c.574+59203_574+59329del	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GINS3_chr16_58387471_58411147	58396324	ACCAGTAG others(120): Show ACCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCG GCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCTGGGCAGAGGGGCTCCTCACTTC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0061 a0002c0002t0003g0062	2	434	0.0046	-127	c.186 others(17): Show c.186+3580_186+3706del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
GLB1L3_chr11_134271379_134324564	134308238	TCACCATC others(120): Show TCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAAATAC CACCACCACCACCACCACCACCACTACCACCACCATCACCATCACCATCA CCATCATCACCATCACCACTACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	422	0.0024	-127	c.961 others(17): Show c.961+1036_961+1162del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLT1D1_chr12_128848478_128989968	128968447	GATCACTT others(120): Show GATCACTTGAGGTCAGGAGTTCGAGGCCAACATGGCCAAACCCCATCTCT ACTAAAAATACAAAAAATCAGCTGAGCAGGGTCGCAGGTGCCTATAATCC TAGCTACTCAGGAGGCTGAGGCATGAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG00639.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0189 a0001c0002t0001g0142 a0001c0001t0001g0189 a0001c0002t0001g0142	2	320	0.0063	-127	c.879 others(19): Show c.879+10814_879+10940del	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GNG7_chr19_2506219_2707694	2643314	CCCGGACT others(120): Show CCCGGACTCTGCACACCTTCCGGCCCGGCTCCGTCGGCACCGGAAATGCA AAGTCTGAGCCTCTCCGGGCTCTGCACACCTTCCGGCCCTGCACCATGTC CACTGGAAATGCAAAGTCCGAGACCTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp2 others(7): Show HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02818.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 others(6): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0034 a0001c0001t0052 a0001c0001t0055 a0001c0001t0074 a0001c0001t0076 a0001c0001t0079	a0001c0001t0012g0133 a0001c0001t0012g0174 a0001c0001t0013g0161 others(7): Show a0001c0001t0012g0133 a0001c0001t0012g0174 a0001c0001t0013g0161 a0001c0001t0017g0025 a0001c0001t0034g0036 a0001c0001t0052g0020 a0001c0001t0055g0024 a0001c0001t0074g0019 a0001c0001t0076g0055 a0001c0001t0079g0125	10	206	0.0485	-127	c.-78 others(17): Show c.-78+2783_-78+2909del	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GPD2_chr2_156431379_156591403	156451241	CGGGCAGA others(120): Show CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCAGGGCGGGG GGCTGACCCCCCCACCTCCTTTCCGGACAGGGCGGCTGGCCGGGCGGGGG TGCTCCTCACTTCCCAGTAGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	254	0.0039	-127	c.-9+ others(17): Show c.-9+14797_-9+14923del	GPD2	ENSG00000115159.17	transcript	ENST00000438166.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSG1L_chr16_27782528_28068714	27805236	GGGTGGGG others(120): Show GGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGGGTGGGGGGAGGGCTG TGGGCACTGGGATTGGGGTGGGGGGAGGGCTGTGGGCACTGGGATTGGGG TGGGGGGAGGGCTGTGGGCACTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	240	0.0042	-127	c.898 others(17): Show c.898+2124_898+2250del	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	6/6			chr16	TogoVar
HCN2_chr19_584881_622159	602233	CCTCCTGC others(120): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0003 a0003	a0003c0048 a0003c0048	a0003c0048t0001 a0003c0048t0001	a0003c0048t0001g0003 a0003c0048t0001g0003	2	408	0.0049	-127	c.633 others(17): Show c.633-1256_633-1130del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC9_chr7_18490749_19007416	18786669	CCTTCCTT others(120): Show CCTTCCTTCCTTTTTGCTCACATATCCCTTTCTGTGTCCTCGGTTTCTGT TGCATGCGCCTCTTGAGTCTAGCTTTCTTTCCTTCCTTTTCTTTTTTCTC TCTTTCTTTCTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0057 a0001c0001t0027g0057	1	156	0.0064	-127	c.221 others(19): Show c.2215-6675_2215-6549del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25			chr7	TogoVar
HINT3_chr6_125951770_125985244	125962185	TACACATA others(120): Show TACACATATATATATATATATATATACACATATATATATATATATATATA CACATATATATATATACACACATATATATATATATACATACATATATATA TACACATATATATATATATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0096 a0001c0001t0001g0097	2	268	0.0075	-127	c.202 others(17): Show c.202-4700_202-4574del	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HSPA4_chr5_133047013_133111449	133108894	GGGGGGGT others(120): Show GGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	364	0.0028	-127	c.44 others(11): Show c.4459_*4585del	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		2446		chr5	TogoVar
HTR1E_chr6_86932528_87021679	87010085	CGGGGTGG others(120): Show CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	300	0.0033	-127	c.-18 others(19): Show c.-185-5029_-185-4903del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTT_chr4_3069681_3248957	3094560	GACGGGGC others(120): Show GACGGGGCGGGTGGCCGGGCGGGGGCTGCCCACCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGCTGCCCCCCACCTCCCGGACGGGGCGGGTGGCC GGGCGGGGGCTGCCCCCCACCTCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03017.hp1 HG00738.hp1 HG03017.hp1	a0020 a0034 a0020 a0034	a0020c0115 a0034c0120 a0020c0115 a0034c0120	a0020c0115t0017 a0034c0120t0017 a0020c0115t0017 a0034c0120t0017	a0020c0115t0017g0202 a0034c0120t0017g0201 a0020c0115t0017g0202 a0034c0120t0017g0201	2	294	0.0068	-127	c.348 others(17): Show c.348-4713_348-4587del	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66			chr4	TogoVar
IFT81_chr12_110119357_110223793	110173245	CCGTCCGG others(120): Show CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCTCTCTGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG00738.hp1 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	218	0.0092	-127	c.118 others(19): Show c.1189-7119_1189-6993del	IFT81	ENSG00000122970.16	transcript	ENST00000242591.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
IL1RAPL1_chrX_28582446_29961718	29333318	AGGCAGAG others(120): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCTGGATAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0125	1	135	0.0074	-127	c.362 others(19): Show c.362+50161_362+50287del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5B_chr1_37855697_37952053	37896920	CGCCCCTA others(120): Show CGCCCCTACTGGGAAGTGAGGAGCCACTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCACCTCTGCCCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	346	0.0029	-127	c.533 others(17): Show c.533-5593_533-5467del	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INTS9_chr8_28762661_28894969	28881602	AGCCGCCC others(120): Show AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCTTCCGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02809.hp2 NA18943.hp2 others(8): Show HG02056.hp1 HG02809.hp2 NA18943.hp2 NA18947.hp1 NA18959.hp2 NA18972.hp2 NA18981.hp2 NA19012.hp1 NA19057.hp2 NA19062.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0001c0001t0001 a0001c0001t0002 a0002c0004t0002	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(8): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0002g0146 a0002c0004t0002g0315	11	358	0.0307	-127	c.9+8 others(13): Show c.9+8145_9+8271del	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
INTS9_chr8_28762661_28894969	28881700	AGGTGGGG others(120): Show AGGTGGGGGGGTCAGCCCCCCTTCCGGCCGGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCTGGCCAGCCGCCCCGTCCGGGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	358	0.0028	-127	c.9+8 others(13): Show c.9+8047_9+8173del	INTS9	ENSG00000104299.15	transcript	ENST00000521022.6	protein_coding	1/16			chr8	TogoVar
INTU_chr4_127627957_127731737	127677386	TACTCCTC others(120): Show TACTCCTCTGAGACAAAATTCCAGAGGAACGATCAGACAGCAGCATTCGC GGTTCACGAAAATCTGCTGTTCTGCAGCCACCGCTGCTGGTACCCAGGCA AACAGGGTCTGGAGTGGACCTCTAGCAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG02258.hp1 others(7): Show HG01109.hp1 HG01361.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02922.hp2 HG02965.hp1 HG03486.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0015 a0001c0001t0056 others(4): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0004t0015	a0001c0001t0009g0071 a0001c0001t0009g0106 a0001c0001t0009g0122 others(7): Show a0001c0001t0009g0071 a0001c0001t0009g0106 a0001c0001t0009g0122 a0001c0001t0015g0091 a0001c0001t0015g0110 a0001c0001t0056g0121 a0001c0001t0057g0109 a0001c0001t0059g0105 a0001c0001t0060g0111 a0001c0004t0015g0221	10	358	0.0279	-127	c.118 others(19): Show c.1181+3179_1181+3305del	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154263797	GCTCCTCA others(120): Show GCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00609.hp1 others(111): Show HG00099.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0002c0003t0008 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0095 a0001c0001t0002g0116 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0185 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0003g0034 a0001c0001t0003g0048 a0001c0001t0003g0059 a0001c0001t0003g0072 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0160 a0001c0001t0003g0175 a0001c0001t0003g0186 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0227 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0137 a0001c0001t0004g0155 a0001c0001t0005g0030 a0001c0001t0005g0074 a0001c0001t0005g0127 a0001c0001t0005g0144 a0001c0001t0005g0154 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0236 a0001c0001t0006g0038 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0007g0141 a0001c0001t0010g0049 a0001c0001t0010g0207 a0001c0001t0010g0222 a0001c0001t0011g0242 a0001c0001t0014g0110 a0001c0001t0014g0111 a0001c0001t0021g0045 a0001c0001t0022g0029 a0001c0001t0023g0006 a0002c0003t0008g0099 a0002c0003t0008g0101 a0002c0003t0008g0102 a0002c0003t0008g0243 a0004c0006t0001g0050	114	264	0.4318	-127	c.36+ others(15): Show c.36+1988_36+2114del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	3/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154357755	ATAATATA others(120): Show ATAATATATAAAATATATATATTATATATATAAAATATATATAATATATA TAATATATATATAAAATATATATAATATATATAATATATATATAAAATAT ATATATAAAATATATATATATATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	264	0.0038	-127	c.-12 others(11): Show c.-1272_-1146del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		953		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154357805	TAATATAT others(120): Show TAATATATATATAAAATATATATAATATATATAATATATATATAAAATAT ATATATAAAATATATATATATATAAAATATATATATATAATATATATATA AAATATATATATATAATATATATATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	264	0.0038	-127	c.-13 others(11): Show c.-1322_-1196del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1003		chr6	TogoVar
IQCF2_chr3_51856615_51868424	51858921	CGGCCAGC others(120): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01255.hp2 HG00741.hp1 HG01167.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	426	0.0070	-127	c.-27 others(11): Show c.-2745_-2619del	IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding		2693		chr3	TogoVar

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