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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
BCL2L10_chr15_52104263_52117775	52113953	TGGGACTT others(10): Show TGGGACTTTGTCCAACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0122	1	456	0.0022	-17	c.-12 others(28): Show c.-1244_-1228delCTGTTGGACAAAGTCCC		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					1179		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52116934	GTTTTTTT others(10): Show GTTTTTTTGAGTCAGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	454	0.0022	-17	c.-42 others(28): Show c.-4225_-4209delACTCTGACTCAAAAAAA		BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding					4160		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17656335	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02896.hp1 HG03195.hp2 others(2): Show HG02683.hp2 HG02896.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0061 a0001c0002t0001 a0001c0001t0007 a0001c0001t0061 a0001c0002t0001	a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0121 others(2): Show a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0121 a0001c0001t0061g0113 a0001c0002t0001g0288	5	66	0.0758	-17	c.121 others(32): Show c.121+520_121+536delTTTTTTTTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17680525	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	304	0.0033	-17	c.122 others(34): Show c.122-2681_122-2665delAAAAAAAAAGAAAAAAA		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715164	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0081 a0001c0002t0006g0081	1	303	0.0033	-17	c.601 others(36): Show c.601-11511_601-11495delATATATTTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715170	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0076 a0001c0002t0006g0076	1	251	0.0040	-17	c.601 others(36): Show c.601-11490_601-11474delTTTTTTTTTTTTTTTTT		BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31683769	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA20905.hp2 HG02015.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	7	0.2857	-17	c.565 others(36): Show c.565-17700_565-17684delTTTTTTTTTTTTTTTTT		BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2						chr20	TogoVar
BCL2_chr18_63118346_63324769	63151470	AGGGGGGC others(10): Show AGGGGGGCGATAATAGAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0085 a0001c0002t0008g0085	1	260	0.0038	-17	c.586 others(36): Show c.586-22728_586-22712delATCTATTATCGCCCCCC		BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2						chr18	TogoVar
BCL6_chr3_187716381_187750468	187725278	ACCCGCTC others(10): Show ACCCGCTCTGCTCACCTG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	401	0.0025	-17	c.183 others(34): Show c.1839+204_1840-201delCAGGTGAGCAGAGCGGG		BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	8/9						chr3	TogoVar
BCL6_chr3_187716381_187750468	187725437	CCTCCGCT others(10): Show CCTCCGCTCGCCTGCCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(47): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp1 NA18957.hp1 NA18968.hp2 NA18970.hp2 NA18993.hp2 NA19000.hp2 NA19043.hp1 NA19081.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0009t0001	a0001c0001t0002g0293 a0001c0002t0001g0014 a0001c0002t0001g0021 others(43): Show a0001c0001t0002g0293 a0001c0002t0001g0014 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0039 a0001c0002t0001g0063 a0001c0002t0001g0097 a0001c0002t0001g0124 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0204 a0001c0002t0001g0229 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0335 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0008g0187 a0001c0009t0001g0333	50	402	0.1244	-17	c.183 others(32): Show c.1839+45_1839+61delCGGGCAGGCGAGCGGAG		BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	8/9						chr3	TogoVar
BCO1_chr16_81233689_81296142	81280269	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02630.hp2 HG02896.hp1 others(2): Show HG02602.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0001 a0002c0004t0001 a0001c0001t0001 a0001c0005t0001 a0002c0004t0001	a0001c0001t0001g0272 a0001c0005t0001g0092 a0002c0004t0001g0010 others(2): Show a0001c0001t0001g0272 a0001c0005t0001g0092 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0135	5	14	0.3571	-17	c.110 others(34): Show c.1102-565_1102-549delAAAAAAAAAAAAAAAAA		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
BCORL1_chrX_129977635_130063071	130011002	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp2 HG02055.hp1 others(8): Show HG01081.hp1 HG01496.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02615.hp1 HG02698.hp1 HG02886.hp2 HG02970.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0001t0001 a0001c0002t0002 a0001c0002t0006	a0001c0001t0001g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 others(8): Show a0001c0001t0001g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0052 a0001c0002t0002g0097 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0189 a0001c0002t0006g0028	11	55	0.2000	-17	c.87- others(32): Show c.87-1559_87-1543delAAAAAAAAAAAAAAAAA		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BCORL1_chrX_129977635_130063071	130037008	TGGTGGCG others(10): Show TGGTGGCGTGCGCCTGTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0155 a0001c0005t0008g0156 a0001c0005t0008g0155 a0001c0005t0008g0156	2	201	0.0100	-17	c.452 others(34): Show c.4528-357_4528-341delGTGGCGTGCGCCTGTAG		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	9/13					INFO_REALIGN_3_PRIME	chrX	TogoVar
BDH1_chr3_197504783_197560968	197510667	TGTGTACA others(10): Show TGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01358.hp2 HG01975.hp1 others(8): Show HG00639.hp2 HG01358.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02257.hp1 HG02258.hp2 HG02698.hp1 HG02976.hp1 NA18906.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0023 a0001c0002t0064 a0001c0004t0002	a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0048 others(8): Show a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0048 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0228 a0001c0001t0005g0204 a0001c0001t0020g0076 a0001c0001t0023g0234 a0001c0002t0064g0245 a0001c0004t0002g0003	11	318	0.0346	-17	c.12 others(28): Show c.1211_*1227delCTTACACACATGTACAC		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8				1211		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96209869	GCCTGTAG others(10): Show GCCTGTAGTCCTAGCTAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	434	0.0023	-17	c.-40 others(34): Show c.-40+4911_-40+4927delCCTGTAGTCCTAGCTAC		BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2						chr14	TogoVar
BDP1_chr5_71450651_71572820	71516170	GGACAGAG others(10): Show GGACAGAGGCAAATAGTA	G G	frameshift_variant frameshift_variant	HIGH	NA19091.hp1 NA19091.hp1	a0042 a0042	a0042c0025 a0042c0025	a0042c0025t0002 a0042c0025t0002	a0042c0025t0002g0070 a0042c0025t0002g0070	1	324	0.0031	-17	c.476 others(26): Show c.4764_4780delGAGGCAAATAGTAGACA	p.Gln others(6): Show p.Gln1590fs	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	21/39	4991/11037	4764/7875	1588/2624		INFO_REALIGN_3_PRIME	chr5	TogoVar
BDP1_chr5_71450651_71572820	71539881	TCATGGAA others(10): Show TCATGGAATAGTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03041.hp1 HG03130.hp1 others(4): Show HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp2 HG03516.hp1 NA20300.hp2	a0006 a0006	a0006c0007 a0006c0024 a0006c0007 a0006c0024	a0006c0007t0002 a0006c0024t0002 a0006c0007t0002 a0006c0024t0002	a0006c0007t0002g0108 a0006c0007t0002g0110 a0006c0007t0002g0111 others(4): Show a0006c0007t0002g0108 a0006c0007t0002g0110 a0006c0007t0002g0111 a0006c0007t0002g0112 a0006c0007t0002g0113 a0006c0007t0002g0114 a0006c0024t0002g0109	7	324	0.0216	-17	c.602 others(34): Show c.6022+255_6022+271delAATAGTTGTATGCATGG		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	28/38					INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00673.hp2 others(55): Show HG00140.hp1 HG00280.hp2 HG00673.hp2 HG00735.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02257.hp2 HG02602.hp2 HG02683.hp2 HG03239.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0043 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0263 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0005g0087 a0003c0003t0002g0080 a0003c0003t0002g0158	58	98	0.5918	-17	c.25+ others(32): Show c.25+7798_25+7814delAAAAAAAAAAAAAAAAA		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66484669	CAGATGGA others(10): Show CAGATGGAGTGAGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	296	0.0034	-17	c.37 others(28): Show c.3745_*3761delAGATGGAGTGAGGCAGG		BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding					1837		chr16	TogoVar
BEGAIN_chr14_100532147_100592417	100546339	ACCCCGGC others(10): Show ACCCCGGCCCTCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02717.hp2 others(8): Show HG01891.hp1 HG02647.hp1 HG02717.hp2 HG03209.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18970.hp1 NA18971.hp1 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006	a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0002t0001g0185 others(8): Show a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0222 a0001c0002t0004g0091 a0001c0003t0001g0112 a0001c0003t0001g0117 a0001c0003t0006g0288 a0001c0003t0006g0291	11	29	0.3793	-17	c.233 others(32): Show c.233+145_233+161delCGGGGCGAGGGCCGGGG		BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	3/6						chr14	TogoVar
BEND3_chr6_107060182_107120515	107073203	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	365	0.0027	-17	c.241 others(34): Show c.241-2270_241-2254delATATATATATATATATA		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3						chr6	TogoVar
BEND3_chr6_107060182_107120515	107118660	AGGATGGT others(10): Show AGGATGGTCTCGATCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	366	0.0027	-17	c.-35 others(28): Show c.-3599_-3583delGGAGATCGAGACCATCC		BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding					3146		chr6	TogoVar
BEX1_chrX_103057651_103069171	103060043	TATATATA others(10): Show TATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	337	0.0030	-17	c.28 others(28): Show c.2837_*2853delTATATATATATATATAT		BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding					2607		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446571	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18943.hp1 HG02004.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0237 a0001c0002t0002g0225 a0001c0001t0001g0237 a0001c0002t0002g0225	2	267	0.0075	-17	c.490 others(32): Show c.490-745_490-729delATATATATATATATATA		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6						chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1275699	TGTGAATG others(10): Show TGTGAATGTGTGTGTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show HG02055.hp2 HG02965.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0002 a0001c0003t0006 a0001c0005t0002	a0001c0003t0006g0000 a0001c0005t0002g0000 a0001c0003t0006g0000 a0001c0005t0002g0000	4	440	0.0091	-17	c.44 others(28): Show c.4429_*4445delGTGAATGTGTGTGTGGG		BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding					3885		chr17	TogoVar
BICC1_chr10_58507872_58836435	58521768	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03195.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1	a0003 a0008 a0003 a0008	a0003c0004 a0008c0010 a0003c0004 a0008c0010	a0003c0004t0014 a0008c0010t0003 a0003c0004t0014 a0008c0010t0003	a0003c0004t0014g0066 a0003c0004t0014g0067 a0008c0010t0003g0065 a0003c0004t0014g0066 a0003c0004t0014g0067 a0008c0010t0003g0065	3	8	0.3750	-17	c.190 others(34): Show c.190+8457_190+8473delTTTTTTTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICC1_chr10_58507872_58836435	58633978	TTTTTTTT others(10): Show TTTTTTTTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp2 others(2): Show HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03540.hp2 HG06807.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0016 a0002c0003t0036 a0003c0004t0014 a0002c0003t0016 a0002c0003t0036 a0003c0004t0014	a0002c0003t0016g0050 a0002c0003t0016g0051 a0002c0003t0036g0111 others(2): Show a0002c0003t0016g0050 a0002c0003t0016g0051 a0002c0003t0036g0111 a0003c0004t0014g0066 a0003c0004t0014g0067	5	130	0.0385	-17	c.237 others(36): Show c.237+13089_237+13105delCTTTTCTTTTTTTTTTT		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32140795	TCGTGTGT others(10): Show TCGTGTGTGTAGTTTTGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(90): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01358.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp2 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0020 a0001c0002t0025 a0001c0003t0013 a0001c0003t0054 a0001c0004t0001 a0001c0004t0062 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0089 others(90): Show a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0255 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0148 a0001c0001t0003g0177 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0004g0142 a0001c0001t0004g0151 a0001c0001t0004g0287 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0166 a0001c0001t0007g0025 a0001c0001t0007g0167 a0001c0001t0008g0119 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0009g0055 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0162 a0001c0001t0009g0185 a0001c0001t0009g0288 a0001c0001t0010g0160 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0011g0079 a0001c0001t0011g0235 a0001c0001t0011g0269 a0001c0001t0012g0229 a0001c0001t0016g0152 a0001c0001t0018g0210 a0001c0001t0018g0224 a0001c0001t0019g0184 a0001c0001t0019g0187 a0001c0001t0020g0230 a0001c0001t0043g0236 a0001c0001t0048g0232 a0001c0001t0049g0242 a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0223 a0001c0002t0002g0227 a0001c0002t0003g0147 a0001c0002t0003g0168 a0001c0002t0005g0165 a0001c0002t0007g0164 a0001c0002t0020g0064 a0001c0002t0020g0228 a0001c0002t0025g0069 a0001c0002t0025g0071 a0001c0003t0013g0062 a0001c0003t0054g0080 a0001c0004t0001g0196 a0001c0004t0062g0040 a0001c0006t0001g0059 a0001c0009t0001g0053	93	288	0.3229	-17	c.213 others(36): Show c.213+33253_213+33269delGTGTGTGTAGTTTTGGC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32387087	TGTTTGAC others(10): Show TGTTTGACTGCAGGGATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0024 a0001c0001t0015g0024	1	288	0.0035	-17	c.94 others(28): Show c.9461_*9477delGTTTGACTGCAGGGATC		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding					3455		chr12	TogoVar
BICDL1_chr12_119984236_120099494	120089375	CGTGTGTG others(10): Show CGTGTGTGTGTGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0130 a0001c0001t0003g0131	2	290	0.0069	-17	c.158 others(34): Show c.1584-562_1584-546delTGGTGTGTGTGTGTGTG		BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02572.hp1 others(3): Show HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0003 a0001c0001t0001 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0221 a0001c0001t0006g0023 a0001c0002t0003g0018	6	32	0.1875	-17	c.-10 others(38): Show c.-102+11044_-102+11060delTTTTTTTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02080.hp2 HG01099.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0261 a0001c0001t0001g0077 a0001c0001t0001g0261	2	44	0.0455	-17	c.184 others(36): Show c.1840-7563_1840-7547delAAAAAAAAAAAAAAAAA		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp2 HG01071.hp2 others(6): Show HG00609.hp2 HG01069.hp2 HG01071.hp2 HG02074.hp2 NA18939.hp1 NA18974.hp2 NA18982.hp1 NA19009.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0046 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0002g0043	9	15	0.6000	-17	c.184 others(36): Show c.1840-6860_1840-6844delTTTTTTTTTTTTTTTTT		BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47611101	TCACACAG others(10): Show TCACACAGCCCTGGGTCA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	310	0.0032	-17	c.-10 others(36): Show c.-108+1938_-108+1954delCAGCCCTGGGTCACACA		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18980.hp1 NA19012.hp1 others(1): Show NA18953.hp2 NA18980.hp1 NA19012.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0009 a0001c0001t0001g0146 a0001c0001t0001g0151	4	267	0.0150	-17	c.761 others(32): Show c.761+201_761+217delATATATATATATATATA		BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12						chr12	TogoVar
BIN3_chr8_22615418_22674121	22616880	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	384	0.0026	-17	c.45 others(28): Show c.4525_*4541delCAAAAAAAAAAAAAAAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding					3537		chr8	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	4	0.2500	-17	c.740 others(34): Show c.7409-678_7409-662delTTTTTTTTTTTTTTTTT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp2 HG01928.hp2 HG01358.hp2 HG01361.hp2 HG01928.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0029 a0002c0002 a0008c0029	a0002c0002t0001 a0008c0029t0001 a0002c0002t0001 a0008c0029t0001	a0002c0002t0001g0094 a0002c0002t0001g0095 a0008c0029t0001g0181 a0002c0002t0001g0094 a0002c0002t0001g0095 a0008c0029t0001g0181	3	16	0.1875	-17	c.131 others(38): Show c.13144+3737_13144+3753delAAAAAAAAAAAAAAAAA		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73					INFO_REALIGN_3_PRIME	chr2	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01167.hp2 others(38): Show HG00323.hp2 HG00621.hp2 HG01167.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp1 HG06807.hp2 NA18962.hp2 NA18975.hp2 NA18985.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19089.hp1 NA19240.hp1 NA21309.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0009 a0009c0020 a0001c0001 a0001c0009 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0009t0001 a0009c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0002g0203 a0001c0001t0006g0081 a0001c0001t0008g0231 a0001c0009t0001g0202 a0009c0020t0001g0061	41	88	0.4659	-17	c.282 others(34): Show c.2824-642_2824-626delTTTTTTTTTTTTTTTTT		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90797414	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00621.hp1 others(51): Show HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00741.hp1 HG01192.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03834.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18955.hp2 NA18957.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0017 a0002c0004 a0010c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0009t0001 a0001c0010t0001 a0001c0017t0001 a0002c0004t0001 a0010c0018t0001	a0001c0001t0001g0010 a0001c0001t0001g0157 a0001c0001t0001g0245 others(50): Show a0001c0001t0001g0010 a0001c0001t0001g0157 a0001c0001t0001g0245 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0174 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0189 a0001c0002t0001g0213 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0261 a0001c0002t0001g0268 a0001c0002t0002g0161 a0001c0002t0007g0096 a0001c0009t0001g0080 a0001c0009t0001g0276 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0010t0001g0044 a0001c0017t0001g0020 a0002c0004t0001g0065 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0136 a0002c0004t0001g0140 a0002c0004t0001g0214 a0002c0004t0001g0258 a0010c0018t0001g0246	54	92	0.5870	-17	c.321 others(34): Show c.3211-761_3211-745delAAAAAAAAAAAAAAAAA		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S5_chr6_8008567_8069389	8022575	TTTTCTTT others(10): Show TTTTCTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	287	0.0035	-17	c.384 others(34): Show c.384+3775_384+3791delGAAAAAAAAAAAAGAAA		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4						chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8058357	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(68): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02071.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18955.hp1 NA18960.hp2 NA18981.hp2 NA18995.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19067.hp1 NA19077.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009	a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0022 others(63): Show a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0148 a0001c0001t0002g0241 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0004g0011 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0125 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0296 a0001c0001t0006g0195 a0001c0001t0009g0120	71	133	0.5338	-17	c.195 others(34): Show c.195+4160_195+4176delTTTTTTTTTTTTTTTTT		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4						chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100124935	TTTATATA others(10): Show TTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02735.hp2 HG04184.hp1 HG00673.hp2 HG02735.hp2 HG04184.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0030 a0004c0005t0001g0031 a0004c0005t0001g0033 a0004c0005t0001g0030 a0004c0005t0001g0031 a0004c0005t0001g0033	3	182	0.0165	-17	c.45- others(34): Show c.45-16404_45-16388delTATATATATATATATAA		BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20						chr12	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	80	0.0125	-17	c.80- others(30): Show c.80-799_80-783delTTTTTTTTTTTTTTTTT		BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4						chr19	TogoVar
BMAL1_chr11_13272790_13392266	13351926	GAGGATGG others(10): Show GAGGATGGTATTCAAGTA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	312	0.0032	-17	c.-9+ others(32): Show c.-9+1859_-9+1875delGATGGTATTCAAGTAAG		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15462137	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	48	0.0208	-17	c.106 others(36): Show c.106+27394_106+27410delTTTTTTTTTTTTTTTTT		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP5_chr6_55748653_55880590	55759144	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	76	0.0132	-17	c.110 others(32): Show c.1105-46_1105-30delTTTTTTTTTTTTTTTTT		BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	5/6						chr6	TogoVar
BMP7_chr20_57163753_57271641	57218899	GGTGTTTG others(10): Show GGTGTTTGGTGGTAGCTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02145.hp1 HG03130.hp1 others(1): Show HG00280.hp1 HG02145.hp1 HG03130.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0015 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0015 a0001c0003t0027	a0001c0001t0001g0113 a0001c0001t0003g0112 a0001c0003t0015g0265 others(1): Show a0001c0001t0001g0113 a0001c0001t0003g0112 a0001c0003t0015g0265 a0001c0003t0027g0266	4	270	0.0148	-17	c.611 others(34): Show c.611+9313_611+9329delTAGCTACCACCAAACAC		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6						chr20	TogoVar
BMP8A_chr1_39486636_39534869	39488295	CTTTTTTT others(10): Show CTTTTTTTTTTTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0018 a0021	a0001c0001 a0001c0014 a0001c0021 others(10): Show a0001c0001 a0001c0014 a0001c0021 a0001c0028 a0001c0029 a0002c0002 a0002c0009 a0002c0013 a0002c0027 a0005c0006 a0006c0005 a0018c0031 a0021c0026	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(32): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0057 a0001c0014t0001 a0001c0021t0001 a0001c0028t0001 a0001c0029t0001 a0002c0002t0002 a0002c0002t0005 a0002c0009t0009 a0002c0013t0014 a0002c0027t0009 a0005c0006t0059 a0006c0005t0001 a0006c0005t0007 a0006c0005t0035 a0018c0031t0001 a0021c0026t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(132): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0012g0007 a0001c0001t0012g0177 a0001c0001t0017g0002 a0001c0001t0017g0206 a0001c0001t0017g0225 a0001c0001t0018g0017 a0001c0001t0018g0155 a0001c0001t0022g0035 a0001c0001t0023g0202 a0001c0001t0023g0218 a0001c0001t0027g0183 a0001c0001t0032g0007 a0001c0001t0034g0007 a0001c0001t0036g0151 a0001c0001t0038g0187 a0001c0001t0039g0227 a0001c0001t0040g0018 a0001c0001t0041g0201 a0001c0001t0042g0042 a0001c0001t0043g0216 a0001c0001t0044g0002 a0001c0001t0045g0240 a0001c0001t0047g0017 a0001c0001t0057g0203 a0001c0014t0001g0008 a0001c0014t0001g0199 a0001c0014t0001g0211 a0001c0021t0001g0005 a0001c0028t0001g0210 a0001c0029t0001g0002 a0002c0002t0002g0157 a0002c0002t0002g0163 a0002c0002t0005g0170 a0002c0009t0009g0037 a0002c0009t0009g0167 a0002c0009t0009g0168 a0002c0009t0009g0169 a0002c0009t0009g0175 a0002c0013t0014g0152 a0002c0013t0014g0195 a0002c0013t0014g0232 a0002c0027t0009g0165 a0005c0006t0059g0244 a0006c0005t0001g0003 a0006c0005t0001g0019 a0006c0005t0001g0047 a0006c0005t0001g0184 a0006c0005t0001g0189 a0006c0005t0001g0197 a0006c0005t0001g0198 a0006c0005t0001g0226 a0006c0005t0001g0228 a0006c0005t0007g0164 a0006c0005t0007g0166 a0006c0005t0007g0171 a0006c0005t0007g0172 a0006c0005t0007g0173 a0006c0005t0007g0174 a0006c0005t0007g0176 a0006c0005t0007g0239 a0006c0005t0035g0212 a0018c0031t0001g0147 a0021c0026t0001g0041	180	305	0.5902	-17	c.-36 others(28): Show c.-3696_-3680delTTTTTTTTTTTTTCTTT		BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding					3340		chr1	TogoVar
BMP8A_chr1_39486636_39534869	39527808	TATTCACG others(10): Show TATTCACGCTTCAGTTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0060 a0005c0006t0060	a0005c0006t0060g0009 a0005c0006t0060g0009	1	360	0.0028	-17	c.20 others(28): Show c.2011_*2027delATTCACGCTTCAGTTTC		BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding	7/7				2011		chr1	TogoVar

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