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
BDH1_chr3_197504783_197560968	197513395	A A	ACTCAGCC others(26): Show ACTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01255.hp1 others(7): Show HG00735.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG03942.hp2 HG04115.hp2 NA18906.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0055 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0055 a0001c0001t0056	a0001c0001t0004g0195 a0001c0001t0008g0060 a0001c0001t0008g0078 others(7): Show a0001c0001t0004g0195 a0001c0001t0008g0060 a0001c0001t0008g0078 a0001c0001t0008g0174 a0001c0001t0008g0175 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0199 a0001c0001t0055g0260 a0001c0001t0056g0165	10	304	0.0329	33	c.562 others(48): Show c.562+836_562+868dupGGCCCTCCCGGGGGCACACCTGGATGGGCT GAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197513428	C C	CCTCAGCC others(26): Show CCTCAGCCCATCCAGGTGTGCCCCCGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02630.hp2 others(2): Show HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0007 a0004c0006 a0001c0001 a0003c0007 a0004c0006	a0001c0001t0011 a0001c0001t0039 a0001c0001t0057 others(2): Show a0001c0001t0011 a0001c0001t0039 a0001c0001t0057 a0003c0007t0045 a0004c0006t0040	a0001c0001t0011g0223 a0001c0001t0039g0206 a0001c0001t0057g0064 others(2): Show a0001c0001t0011g0223 a0001c0001t0039g0206 a0001c0001t0057g0064 a0003c0007t0045g0077 a0004c0006t0040g0083	5	293	0.0171	33	c.562 others(48): Show c.562+803_562+835dupTGCCCTCCCGGGGGCACACCTGGATGGGCT GAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/7			chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96245659	T T	TTTAGGAT others(26): Show TTTAGGATTAGGTAGACCTGGATTCCACTTGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	434	0.0023	33	c.41 others(44): Show c.4155_*4156insTTAGGATTAGGTAGACCTGGATTCCACTTGTGG	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding		1496		chr14	TogoVar
BECN1_chr17_42805134_42829282	42810071	C C	CTTGATTC others(26): Show CTTGATTCTCCCAGAATACAAAGTACTCTATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	33	c.65 others(42): Show c.656_*688dupAAAATAGAGTACTTTGTATTCTGGGAGAATCAA	BECN1	ENSG00000126581.13	transcript	ENST00000590099.6	protein_coding		62		chr17	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(26): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	131	0.0076	33	c.482 others(50): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69685029	C C	CTATTCTA others(26): Show CTATTCTATTCTATTCTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	360	0.0028	33	c.482 others(50): Show c.482-6137_482-6136insATAGAATAGAATAGAATAGAATAGAATA GAATA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BICC1_chr10_58507872_58836435	58826587	T T	TAAAAATA others(26): Show TAAAAATACAAATACTTCTCTCTACTAAAAATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(75): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18972.hp2 NA18986.hp2 NA19060.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0003 a0002c0006 others(4): Show a0001c0001 a0002c0003 a0002c0006 a0003c0004 a0003c0007 a0004c0005 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0002c0003t0004 a0002c0003t0009 a0002c0003t0015 a0002c0003t0016 a0002c0006t0038 a0003c0004t0014 a0003c0004t0024 a0003c0004t0034 a0003c0004t0043 a0003c0004t0046 a0003c0007t0032 a0004c0005t0004 a0004c0005t0029 a0004c0005t0033 a0004c0005t0052 a0008c0010t0003	a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 others(75): Show a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0059 a0001c0001t0005g0005 a0001c0001t0005g0014 a0001c0001t0006g0079 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0006g0105 a0001c0001t0007g0071 a0001c0001t0007g0080 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0106 a0001c0001t0007g0122 a0001c0001t0011g0070 a0001c0001t0011g0077 a0001c0001t0012g0004 a0001c0001t0012g0018 a0001c0001t0012g0047 a0001c0001t0021g0035 a0001c0001t0023g0057 a0001c0001t0026g0032 a0001c0001t0027g0038 a0001c0001t0028g0022 a0001c0001t0037g0113 a0001c0001t0039g0126 a0001c0001t0041g0130 a0001c0001t0045g0090 a0001c0001t0047g0086 a0001c0001t0048g0076 a0001c0001t0050g0098 a0002c0003t0004g0042 a0002c0003t0009g0104 a0002c0003t0009g0120 a0002c0003t0015g0054 a0002c0003t0016g0050 a0002c0003t0016g0051 a0002c0006t0038g0110 a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0024g0056 a0003c0004t0034g0034 a0003c0004t0043g0112 a0003c0004t0046g0119 a0003c0007t0032g0036 a0004c0005t0004g0060 a0004c0005t0029g0009 a0004c0005t0033g0043 a0004c0005t0052g0092 a0008c0010t0003g0065	78	130	0.6000	33	c.279 others(52): Show c.2795-2163_2795-2162insTACTTCTCTCTACTAAAAATACAAAA ATACAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32142453	C C	CCTATCTA others(26): Show CCTATCTATCTATCCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp1 HG02155.hp1 others(1): Show HG01261.hp2 HG02148.hp1 HG02155.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0001 a0001c0001t0004 a0001c0001t0024	a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0004g0170 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0004g0170 a0001c0001t0024g0209	4	134	0.0299	33	c.213 others(52): Show c.213+34922_213+34923insCTATCTATCTATCTATCTATCTATCT ATCTATC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32251989	A A	AATATATT others(26): Show AATATATTTATAATATATATTTATAATAAATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(53): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01943.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03492.hp2 HG03831.hp2 NA18522.hp1 NA18612.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0028 a0001c0001t0060 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0020 a0001c0002t0029 a0001c0002t0037 a0001c0002t0041 a0001c0002t0045 a0001c0002t0046 a0001c0003t0013 a0001c0003t0054 a0001c0004t0062 a0001c0005t0012 a0002c0010t0008	a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0003g0070 others(53): Show a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0003g0070 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0006g0027 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0163 a0001c0001t0006g0166 a0001c0001t0008g0108 a0001c0001t0008g0141 a0001c0001t0010g0103 a0001c0001t0011g0079 a0001c0001t0017g0093 a0001c0001t0028g0005 a0001c0001t0060g0244 a0001c0001t0061g0211 a0001c0002t0001g0051 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0175 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0260 a0001c0002t0002g0045 a0001c0002t0002g0065 a0001c0002t0002g0088 a0001c0002t0002g0243 a0001c0002t0003g0147 a0001c0002t0003g0168 a0001c0002t0004g0004 a0001c0002t0004g0013 a0001c0002t0004g0016 a0001c0002t0004g0107 a0001c0002t0005g0001 a0001c0002t0005g0007 a0001c0002t0005g0009 a0001c0002t0005g0132 a0001c0002t0005g0143 a0001c0002t0007g0006 a0001c0002t0020g0064 a0001c0002t0029g0110 a0001c0002t0037g0094 a0001c0002t0041g0176 a0001c0002t0045g0198 a0001c0002t0046g0262 a0001c0003t0013g0282 a0001c0003t0054g0080 a0001c0004t0062g0040 a0001c0005t0012g0270 a0002c0010t0008g0256	56	183	0.3060	33	c.426 others(52): Show c.426+35563_426+35595dupCATATATTTATAATATATATTTATAA TAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252050	A A	AATATCAT others(26): Show AATATCATATATTTATAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0100 a0001c0001t0022g0100	1	288	0.0035	33	c.426 others(52): Show c.426+35595_426+35596insCATATATTTATAATATATATTTATAA TATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(26): Show GTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp1 NA19084.hp2 HG03688.hp1 HG03927.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0201 a0001c0001t0003g0284 a0001c0001t0003g0061 a0001c0001t0003g0201 a0001c0001t0003g0284	3	109	0.0275	33	c.69 others(44): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(26): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02040.hp2 HG00323.hp1 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0026 a0001c0002t0002 a0001c0002t0026	a0001c0002t0002g0188 a0001c0002t0026g0014 a0001c0002t0002g0188 a0001c0002t0026g0014	2	108	0.0185	33	c.69 others(44): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(26): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0069 a0001c0002t0025g0069	1	107	0.0093	33	c.69 others(44): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(26): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01081.hp2 HG01192.hp1 others(2): Show HG00280.hp1 HG01081.hp2 HG01192.hp1 HG01978.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0059	a0001c0001t0004g0136 a0001c0001t0008g0144 a0001c0001t0011g0079 others(2): Show a0001c0001t0004g0136 a0001c0001t0008g0144 a0001c0001t0011g0079 a0001c0001t0011g0235 a0001c0001t0059g0215	5	111	0.0450	33	c.69 others(44): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(26): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	128	0.0078	33	c.84+ others(48): Show c.84+1360_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC5_chr17_78209253_78230635	78230009	A A	ACAACACA others(26): Show ACAACACACGCCCCATTCAGCACCCCCATCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	430	0.0023	33	c.64 others(44): Show c.6455_*6456insCAACACACGCCCCATTCAGCACCCCCATCTTCC	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding		4375		chr17	TogoVar
BIRC6_chr2_32352023_32623878	32578989	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	259	0.0039	33	c.133 others(54): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	265	0.0038	33	c.142 others(52): Show c.14260-329_14260-328insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0063 a0001c0001t0029g0063	1	54	0.0185	33	c.103 others(52): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GGAAGGAA others(26): Show GGAAGGAAGAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp2 HG02572.hp2 others(6): Show HG01123.hp2 HG02055.hp2 HG02572.hp2 HG02809.hp2 HG02886.hp2 HG03225.hp2 NA18956.hp1 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0010 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0003t0006 a0001c0011t0001	a0001c0001t0001g0122 a0001c0001t0001g0225 a0001c0001t0001g0230 others(6): Show a0001c0001t0001g0122 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0010g0218 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0010g0245 a0001c0003t0006g0228 a0001c0011t0001g0224	9	115	0.0783	33	c.-2+ others(48): Show c.-2+9776_-2+9777insGAAGGAAGAAAGAAAAGAAAAGAAAAGAAA AGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18964.hp1 NA18954.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0317 a0001c0001t0001g0299 a0001c0001t0001g0317	2	73	0.0274	33	c.749 others(50): Show c.7493+118_7493+119insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122345482	G G	GTGAACAT others(26): Show GTGAACATTTAATTGGTTGGAGCCAATTAAATGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0012 a0012	a0012c0039 a0012c0039	a0012c0039t0001 a0012c0039t0001	a0012c0039t0001g0233 a0012c0039t0001g0233	1	334	0.0030	33	c.129 others(52): Show c.12997+939_12997+971dupGGAGCCAATTAAATGTTGAACATTTA ATTGGTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	76/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100105300	G G	GGAACAGA others(26): Show GGAACAGAATAAAGTATTCTGTTTCTGTTCCATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp2 NA18942.hp2 others(2): Show HG00544.hp1 HG02056.hp2 NA18942.hp2 NA18960.hp1 NA19078.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0028 a0001c0001 a0012c0028	a0001c0001t0001 a0012c0028t0001 a0001c0001t0001 a0012c0028t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0012c0028t0001g0090	5	186	0.0269	33	c.208 others(50): Show c.208-1382_208-1350dupAATGGAACAGAAACAGAATACTTTATTC TGTTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0050 a0003c0002t0001g0050	1	102	0.0098	33	c.44+ others(48): Show c.44+1862_44+1863insATATATATATATATATATATATATTTTTTT TTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0053 a0011c0027t0001g0053	1	102	0.0098	33	c.44+ others(48): Show c.44+1862_44+1863insATATATATATATATATATATATATATTTTT TTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0272 a0001c0001t0008g0272	1	15	0.0667	33	c.106 others(50): Show c.106+9391_106+9392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMPR1A_chr10_86751619_86932969	86791707	C C	CCCTTCCT others(26): Show CCCTTCCTCCCTCCCTCCCTCCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0087 a0001c0002t0017g0087	1	176	0.0057	33	c.-26 others(54): Show c.-268+34791_-268+34792insTCCTCCCTCCCTCCCTCCCCTCCC TCCCTTCCT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94770182	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03834.hp2 HG01361.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0064 a0001c0001t0006g0105 a0001c0001t0003g0064 a0001c0001t0006g0105	2	166	0.0120	33	c.-18 others(54): Show c.-183+12117_-183+12118insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202376511	A A	AGGCGGCG others(26): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0145 a0001c0001t0052g0145	1	167	0.0060	33	c.-96 others(42): Show c.-960_-928dupGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/13	927	INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(26): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG01496.hp2 others(3): Show HG00735.hp2 HG01496.hp1 HG01496.hp2 HG02896.hp1 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0001t0052	a0001c0001t0004g0133 a0001c0001t0004g0217 a0001c0001t0004g0219 others(3): Show a0001c0001t0004g0133 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0014g0142 a0001c0001t0019g0010 a0001c0001t0052g0145	6	17	0.3529	33	c.76+ others(48): Show c.76+7021_76+7022insCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19082.hp2 HG00621.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0028 a0001c0002t0002g0066 a0001c0001t0003g0028 a0001c0002t0002g0066	2	137	0.0146	33	c.77- others(50): Show c.77-29900_77-29899insAAAAAAATATATATATATATATATATAT ATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144262774	A A	ACCCCCAC others(26): Show ACCCCCACCCCTCACCTGCAGGGTACACCGCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(89): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02155.hp1 HG02280.hp2 HG02300.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02896.hp1 HG02976.hp1 HG03209.hp2 HG03239.hp2 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0013 a0015	a0001c0001 a0001c0003 a0001c0010 others(8): Show a0001c0001 a0001c0003 a0001c0010 a0002c0004 a0004c0007 a0005c0015 a0006c0009 a0007c0026 a0008c0024 a0013c0017 a0015c0018	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0002c0004t0001 a0004c0007t0001 a0005c0015t0001 a0006c0009t0001 a0007c0026t0001 a0008c0024t0001 a0013c0017t0001 a0015c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0306 a0001c0001t0001g0347 a0001c0001t0001g0356 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0010t0001g0044 a0002c0004t0001g0185 a0004c0007t0001g0008 a0004c0007t0001g0176 a0005c0015t0001g0106 a0006c0009t0001g0109 a0006c0009t0001g0293 a0007c0026t0001g0094 a0008c0024t0001g0150 a0013c0017t0001g0099 a0015c0018t0001g0361	92	384	0.2396	33	c.189 others(48): Show c.1894+46_1894+78dupGGGGCGGTGTACCCTGCAGGTGAGGGGTGG GGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262803	G G	GCCCCCCC others(26): Show GCCCCCCCCACCCCTCACCTGCAGGGTACACCGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	199	0.0050	33	c.189 others(48): Show c.1894+49_1894+50insGCGGTGTACCCTGCAGGTGAGGGGTGGGGG GGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262804	C C	CCCCCCCC others(26): Show CCCCCCCCCCACCCCTCACCTGCAGGGTACACCG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04199.hp2 NA18979.hp2 HG02602.hp2 HG04199.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0001 a0001c0012t0001 a0001c0003t0001 a0001c0012t0001	a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0012t0001g0078 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0012t0001g0078	3	379	0.0079	33	c.189 others(48): Show c.1894+48_1894+49insCGGTGTACCCTGCAGGTGAGGGGTGGGGGG GGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144262839	C C	CCCCCCCC others(26): Show CCCCCCCCCCACCCCTCACCTGCAGGGTGCACTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0166 a0001c0006t0001g0166	1	395	0.0025	33	c.189 others(48): Show c.1894+13_1894+14insCAGTGCACCCTGCAGGTGAGGGGTGGGGGG GGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
BPI_chr20_38299156_38342505	38316141	T T	TCTTTTCT others(26): Show TCTTTTCTCCCTTTCTTCCTTCCATCCCTTTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp1 HG02717.hp1 HG03209.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0291 a0005c0006t0001g0292 a0005c0006t0001g0291 a0005c0006t0001g0292	2	424	0.0047	33	c.601 others(50): Show c.601-2249_601-2217dupATCCCTTTCTCCTTTTCTCCCTTTCTTC CTTCC	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02055.hp2 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0172 a0002c0002t0001g0127 a0002c0002t0001g0172	2	48	0.0417	33	c.24 others(44): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19004.hp2 HG04204.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0130 a0001c0001t0001g0050 a0001c0001t0001g0130	2	68	0.0294	33	c.748 others(50): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	241	0.0041	33	c.127 others(50): Show c.127+2198_127+2199insATATATATATATATATATATATATATAT ATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	241	0.0041	33	c.127 others(50): Show c.127+2198_127+2199insAAATATATATATATATATATATATATAT ATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0036 a0001c0015t0001g0036	1	241	0.0041	33	c.127 others(50): Show c.127+2198_127+2199insAAAAATATATATATATATATATATATAT ATATA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100622	T T	TATATGTT others(26): Show TATATGTTATATATATATATAACATATATATAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0140 a0003c0003t0002g0140	1	269	0.0037	33	c.442 others(48): Show c.442-743_442-742insGTTATATATATGTTATATATATATATAACA TAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRINP1_chr9_119161629_119374435	119249853	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03225.hp1 HG01884.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0001 a0001c0003t0008	a0001c0001t0001g0043 a0001c0003t0001g0178 a0001c0003t0008g0212 a0001c0001t0001g0043 a0001c0003t0001g0178 a0001c0003t0008g0212	3	228	0.0132	33	c.219 others(48): Show c.219-704_219-703insCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCC	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	2/7			chr9	TogoVar
BRIP1_chr17_61674139_61868528	61787419	A A	AAAATATA others(26): Show AAAATATATAATATATATACTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03098.hp2 HG06807.hp1 others(1): Show HG01070.hp2 HG03098.hp2 HG06807.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 a0001c0001t0004 a0001c0001t0006 a0001c0001t0032	a0001c0001t0004g0163 a0001c0001t0006g0171 a0001c0001t0006g0180 others(1): Show a0001c0001t0004g0163 a0001c0001t0006g0171 a0001c0001t0006g0180 a0001c0001t0032g0140	4	264	0.0152	33	c.147 others(52): Show c.1474-3028_1474-2996dupATATATAATATATAGTATATATATTA TATATTT	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BRWD3_chrX_80664503_80814877	80726240	A A	ATATGTCT others(26): Show ATATGTCTGTATAACATATAACACGTTTACATGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp1 HG03942.hp1 HG02109.hp2 HG03225.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0001 a0001c0001t0002 a0001c0001t0024	a0001c0001t0001g0222 a0001c0001t0002g0127 a0001c0001t0024g0160 a0001c0001t0001g0222 a0001c0001t0002g0127 a0001c0001t0024g0160	3	263	0.0114	33	c.138 others(52): Show c.1387-1206_1387-1174dupACATGTAAACGTGTTATATGTTATAC AGACATA	BRWD3	ENSG00000165288.11	transcript	ENST00000373275.5	protein_coding	14/40			chrX	TogoVar
BSND_chr1_54993933_55022172	54996837	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0224 a0001c0003t0189 a0001c0001t0224 a0001c0003t0189	a0001c0001t0224g0027 a0001c0003t0189g0002 a0001c0001t0224g0027 a0001c0003t0189g0002	2	279	0.0072	33	c.-23 others(44): Show c.-2350_-2349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding		2095		chr1	TogoVar
BSN_chr3_49549477_49676549	49605540	T T	TATATATA others(26): Show TATATATAATATATATTATATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0066 a0007c0011t0001g0066	1	184	0.0054	33	c.225 others(52): Show c.225-19428_225-19427insATATATATTATATAATATAATATATA ATATATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSN_chr3_49549477_49676549	49606118	C C	CGTATAAT others(26): Show CGTATAATATTATATATAAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0141 a0001c0001t0015g0141	1	147	0.0068	33	c.225 others(52): Show c.225-18852_225-18851insATATTATATATAAATATATATTATAT ATGTATA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BSX_chr11_122972570_122986834	122983523	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG03098.hp1 HG02258.hp2 HG02896.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0064 a0002c0002t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0064 a0002c0002t0001g0009	3	28	0.1071	33	c.-18 others(44): Show c.-1853_-1852insTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTT	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding		1690		chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012243	C C	CCCTCTAT others(26): Show CCCTCTATCTCCTCCCCTCTCCCCTCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp2 HG04184.hp2 others(1): Show HG01261.hp1 HG01952.hp2 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0168 a0001c0001t0002g0293 a0001c0001t0002g0303 others(1): Show a0001c0001t0002g0168 a0001c0001t0002g0293 a0001c0001t0002g0303 a0001c0001t0011g0242	4	26	0.1538	33	c.431 others(50): Show c.4311+830_4311+831insTCTATCTCCTCCCCTCTCCCCTCCCCCC CCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar

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