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
BIRC2_chr11_102342214_102383670	102360784	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02698.hp2 others(2): Show HG01109.hp1 HG01255.hp1 HG02698.hp2 HG03927.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 others(2): Show a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0008g0249	5	338	0.0148	14	c.996 others(31): Show c.996-2101_996-2100insTGTTTTTTTTTTTT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02738.hp2 HG03098.hp1 others(4): Show HG02559.hp2 HG02738.hp2 HG03098.hp1 HG04184.hp1 NA18994.hp2 NA18995.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0222 a0001c0001t0003g0019	7	235	0.0298	14	c.112 others(31): Show c.1123+446_1123+459dupTATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	305	0.0033	14	c.112 others(31): Show c.1123+459_1123+460insTATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp1 HG02293.hp2 others(2): Show HG01934.hp1 HG01975.hp1 HG02293.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0081 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0081 a0001c0001t0001g0140 a0001c0001t0001g0235 a0001c0001t0001g0239	5	237	0.0211	14	c.112 others(31): Show c.1123+459_1123+460insTATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTATTT others(7): Show GTGTATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01981.hp1 NA18955.hp1 others(2): Show HG00280.hp2 HG01981.hp1 NA18955.hp1 NA19000.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0004g0058 a0001c0002t0001g0003 others(2): Show a0001c0001t0001g0004 a0001c0001t0004g0058 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0097	5	282	0.0177	14	c.52 others(25): Show c.5238_*5239insTGTATTTATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(7): Show GTATATGTATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01943.hp1 HG01167.hp2 HG01169.hp2 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	3	70	0.0429	14	c.52 others(25): Show c.5242_*5243insTATATGTATGTATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342382	A A	ATATATAT others(7): Show ATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	381	0.0026	14	c.52 others(25): Show c.5280_*5281insTATATATATATATG	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2980		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32377213	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	131	0.0076	14	c.326 others(29): Show c.326-351_326-338dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32397574	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02451.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0021 a0001c0007t0002g0022 a0001c0007t0002g0021 a0001c0007t0002g0022	2	106	0.0189	14	c.103 others(33): Show c.1034+1999_1034+2012dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	6/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19010.hp2 HG01099.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0022 a0001c0001 a0002c0022	a0001c0001t0001 a0002c0022t0001 a0001c0001t0001 a0002c0022t0001	a0001c0001t0001g0243 a0002c0022t0001g0055 a0001c0001t0001g0243 a0002c0022t0001g0055	2	33	0.0606	14	c.324 others(31): Show c.3248+110_3248+123dupTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32448652	T T	TGGAGAGG others(7): Show TGGAGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19085.hp2 HG06807.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0003 a0002c0002t0001 a0001c0007t0003 a0002c0002t0001	a0001c0007t0003g0185 a0002c0002t0001g0203 a0001c0007t0003g0185 a0002c0002t0001g0203	2	255	0.0078	14	c.448 others(31): Show c.4485-120_4485-107dupGAGAGGGGAGAGGG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	21/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0058 a0002c0033t0001g0058	1	74	0.0135	14	c.475 others(33): Show c.4754-2921_4754-2920insATATATATTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461161	T T	TCCCCCTC others(7): Show TCCCCCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0129 a0003c0017t0001g0129	1	272	0.0037	14	c.475 others(33): Show c.4754-2029_4754-2028insCTCCCCTCTCCCCC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461185	T T	TCCCCTCC others(7): Show TCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	164	0.0061	14	c.475 others(33): Show c.4754-1999_4754-1998insCCCCCCCCTCCCCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461343	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02145.hp2 HG02615.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0001 a0001c0013t0001 a0001c0010t0001 a0001c0013t0001	a0001c0010t0001g0052 a0001c0013t0001g0037 a0001c0013t0001g0153 a0001c0010t0001g0052 a0001c0013t0001g0037 a0001c0013t0001g0153	3	158	0.0190	14	c.475 others(33): Show c.4754-1824_4754-1811dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp2 HG01346.hp1 HG01934.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0007 a0001c0006t0001g0013 a0001c0006t0001g0007 a0001c0006t0001g0013	2	116	0.0172	14	c.949 others(31): Show c.9499+828_9499+841dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(45): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00639.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 NA18747.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA19000.hp2 NA19009.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0002c0002 a0002c0004 a0002c0016 a0002c0035 a0002c0042 a0003c0017 a0006c0026	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0002c0002t0001 a0002c0002t0006 a0002c0004t0001 a0002c0016t0001 a0002c0035t0008 a0002c0042t0001 a0003c0017t0001 a0006c0026t0001	a0001c0001t0001g0102 a0001c0001t0001g0192 a0001c0001t0001g0195 others(45): Show a0001c0001t0001g0102 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0003t0001g0024 a0001c0003t0001g0059 a0001c0003t0001g0097 a0001c0003t0001g0123 a0001c0003t0001g0130 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0005t0001g0208 a0001c0005t0001g0222 a0001c0010t0001g0052 a0001c0011t0001g0217 a0001c0011t0001g0262 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0115 a0002c0002t0001g0142 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0006g0015 a0002c0004t0001g0147 a0002c0016t0001g0074 a0002c0016t0001g0077 a0002c0035t0008g0105 a0002c0042t0001g0107 a0003c0017t0001g0128 a0003c0017t0001g0129 a0006c0026t0001g0187	48	68	0.7059	14	c.122 others(33): Show c.12291+607_12291+620dupTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0071 a0002c0004t0001g0071	1	14	0.0714	14	c.131 others(35): Show c.13144+3740_13144+3753dupAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18942.hp2 NA18943.hp1 others(1): Show HG03041.hp2 NA18942.hp2 NA18943.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0046 a0002c0034 a0001c0001 a0001c0046 a0002c0034	a0001c0001t0001 a0001c0046t0001 a0002c0034t0001 a0001c0001t0001 a0001c0046t0001 a0002c0034t0001	a0001c0001t0001g0104 a0001c0001t0001g0235 a0001c0046t0001g0156 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0235 a0001c0046t0001g0156 a0002c0034t0001g0221	4	107	0.0374	14	c.133 others(35): Show c.13355+3624_13355+3625insTATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32609285	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 NA18943.hp2 others(1): Show HG02258.hp2 HG06807.hp2 NA18943.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0002 a0001c0003 a0001c0007 a0002c0002	a0001c0003t0001 a0001c0007t0003 a0002c0002t0001 a0001c0003t0001 a0001c0007t0003 a0002c0002t0001	a0001c0003t0001g0137 a0001c0007t0003g0185 a0002c0002t0001g0041 others(1): Show a0001c0003t0001g0137 a0001c0007t0003g0185 a0002c0002t0001g0041 a0002c0002t0001g0065	4	166	0.0241	14	c.142 others(35): Show c.14259+1656_14259+1669dupGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32611108	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	265	0.0038	14	c.142 others(33): Show c.14260-329_14260-328insTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63233133	A A	AGGGGGCA others(7): Show AGGGGGCATCACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	297	0.0034	14	c.-29 others(25): Show c.-2964_-2963insGGGGGCATCACAGG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		2771		chr20	TogoVar
BIVM_chr13_102794119_102846533	102833326	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0310 a0001c0001t0022g0310	1	402	0.0025	14	c.103 others(33): Show c.1035-1140_1035-1139insTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10			chr13	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01069.hp1 others(10): Show HG00140.hp2 HG00597.hp2 HG01069.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02071.hp2 HG02809.hp1 HG03491.hp2 HG03710.hp2 HG04204.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0030	a0001c0001t0002g0025 a0001c0001t0002g0083 a0001c0001t0002g0121 others(8): Show a0001c0001t0002g0025 a0001c0001t0002g0083 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0003g0041 a0001c0001t0003g0249 a0001c0001t0004g0311 a0001c0001t0014g0125 a0001c0001t0030g0070	13	66	0.1970	14	c.103 others(33): Show c.1035-1134_1035-1121dupTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11504412	A A	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02486.hp2 others(5): Show HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02922.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0014 a0001c0002 a0001c0006 a0001c0014	a0001c0002t0009 a0001c0006t0004 a0001c0006t0005 others(1): Show a0001c0002t0009 a0001c0006t0004 a0001c0006t0005 a0001c0014t0004	a0001c0002t0009g0102 a0001c0006t0004g0098 a0001c0006t0005g0082 others(5): Show a0001c0002t0009g0102 a0001c0006t0004g0098 a0001c0006t0005g0082 a0001c0006t0005g0096 a0001c0006t0005g0097 a0001c0006t0005g0099 a0001c0006t0005g0100 a0001c0014t0004g0095	8	300	0.0267	14	c.-2+ others(29): Show c.-2+9824_-2+9825insGAAAAGAAAAGAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 NA18944.hp2 HG02559.hp1 HG02615.hp2 NA18944.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0002 a0001c0001t0002g0021 a0004c0006t0002g0030 a0001c0001t0001g0002 a0001c0001t0002g0021 a0004c0006t0002g0030	3	40	0.0750	14	c.-4- others(31): Show c.-4-12130_-4-12117dupATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90778889	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	213	0.0047	14	c.255 others(33): Show c.2556-3932_2556-3919dupTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90784351	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	222	0.0045	14	c.266 others(31): Show c.2663-570_2663-569insTTTTTTTTTTTTTG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	13/21			chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0013 a0001c0003t0012g0013	1	54	0.0185	14	c.125 others(33): Show c.1251+2126_1251+2139dupAAAAAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16			chr10	TogoVar
BLNK_chr10_96184171_96276569	96229654	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG03927.hp1 HG02647.hp1 HG03540.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0003t0013 a0001c0001t0001 a0001c0003t0008 a0001c0003t0013	a0001c0001t0001g0202 a0001c0003t0008g0017 a0001c0003t0013g0012 a0001c0001t0001g0202 a0001c0003t0008g0017 a0001c0003t0013g0012	3	12	0.2500	14	c.204 others(31): Show c.204+1126_204+1139dupCACACACACACACA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16			chr10	TogoVar
BLOC1S1_chr12_55711046_55724703	55714517	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	97	0.0103	14	c.-15 others(25): Show c.-1535_-1534insAAAAAAAAAAAAAA	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1528		chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100281703	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0193 a0002c0002t0007g0193	1	368	0.0027	14	c.173 others(29): Show c.173-651_173-650insGTGTATATATATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281705	T T	TATATACA others(7): Show TATATACACATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02970.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0018 a0002c0002t0007 a0002c0002t0018	a0002c0002t0007g0044 a0002c0002t0018g0203 a0002c0002t0007g0044 a0002c0002t0018g0203	3	374	0.0080	14	c.173 others(29): Show c.173-653_173-652insGTGTATGTGTATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp2 HG02148.hp1 others(5): Show HG00609.hp2 HG01496.hp2 HG02148.hp1 HG02572.hp2 NA18957.hp2 NA18991.hp2 NA19002.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0002c0002t0017 a0001c0001t0001 a0002c0002t0003 a0002c0002t0017	a0001c0001t0001g0160 a0001c0001t0001g0161 a0002c0002t0003g0210 others(5): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0002c0002t0003g0210 a0002c0002t0003g0211 a0002c0002t0003g0212 a0002c0002t0003g0213 a0002c0002t0003g0214 a0002c0002t0017g0209	8	191	0.0419	14	c.173 others(29): Show c.173-672_173-659dupGTGTGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	G G	GCGCGCAC others(7): Show GCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	163	0.0061	14	c.-16 others(25): Show c.-1650_-1649insCGCGCACACACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8017385	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG00639.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0217 a0001c0001t0003g0218	2	61	0.0328	14	c.385 others(31): Show c.385-1571_385-1558dupGTGTGTGTGTGTGT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0191 a0002c0002t0004g0191	1	167	0.0060	14	c.326 others(31): Show c.326-4441_326-4440insTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTCTTT others(7): Show CTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03942.hp1 HG02738.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0269 a0001c0001t0002g0258 a0001c0001t0002g0269	2	104	0.0192	14	c.196 others(29): Show c.196-388_196-387insAAAAAAAAAAGAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCAC others(7): Show TCTCTCACACACACA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	28	0.0357	14	c.196 others(31): Show c.196-5893_196-5892insTGTGTGTGTGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18961.hp2 HG02257.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0230 a0001c0001t0019g0213 a0001c0001t0003g0230 a0001c0001t0019g0213	2	29	0.0690	14	c.196 others(31): Show c.196-5893_196-5892insTGTGTGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03139.hp1 others(1): Show HG01891.hp2 HG02055.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 others(1): Show a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0017g0144	4	31	0.1290	14	c.196 others(31): Show c.196-5893_196-5892insTGTGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18957.hp1 NA18972.hp1 others(1): Show HG02056.hp2 NA18957.hp1 NA18972.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0212 a0001c0001t0003g0223 others(1): Show a0001c0001t0003g0021 a0001c0001t0003g0212 a0001c0001t0003g0223 a0001c0001t0003g0229	4	31	0.1290	14	c.196 others(31): Show c.196-5893_196-5892insTGAGAGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG02155.hp1 others(5): Show HG01361.hp1 HG02056.hp2 HG02155.hp1 HG03927.hp1 NA18747.hp1 NA18975.hp1 NA19056.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0005c0013	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0005c0013t0001	a0001c0001t0001g0221 a0001c0002t0001g0002 a0001c0002t0001g0021 others(4): Show a0001c0001t0001g0221 a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0085 a0001c0009t0001g0066 a0005c0013t0001g0226	8	29	0.2759	14	c.676 others(31): Show c.6763-590_6763-577dupGTGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01175.hp2 others(10): Show HG00280.hp1 HG00639.hp1 HG01175.hp2 HG01256.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG03471.hp2 HG03688.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp1	a0001 a0004 a0014 a0001 a0004 a0014	a0001c0001 a0001c0007 a0001c0036 others(2): Show a0001c0001 a0001c0007 a0001c0036 a0004c0010 a0014c0035	a0001c0001t0001 a0001c0007t0001 a0001c0036t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0036t0001 a0004c0010t0001 a0014c0035t0001	a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0304 others(10): Show a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0007t0001g0238 a0001c0007t0001g0243 a0001c0007t0001g0245 a0001c0007t0001g0247 a0001c0036t0001g0320 a0004c0010t0001g0307 a0014c0035t0001g0142	13	84	0.1548	14	c.749 others(31): Show c.7493+105_7493+118dupTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(17): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01255.hp1 HG02132.hp1 HG03516.hp1 HG03704.hp1 HG03831.hp2 NA18952.hp1 NA18957.hp2 NA18968.hp1 NA18994.hp1 NA19000.hp1 NA19054.hp1 NA19054.hp2 NA19070.hp2 NA20752.hp1	a0001 a0011 a0019 a0001 a0011 a0019	a0001c0001 a0001c0003 a0001c0038 others(2): Show a0001c0001 a0001c0003 a0001c0038 a0011c0020 a0019c0042	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0038t0005 a0011c0020t0001 a0019c0042t0001	a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0182 others(17): Show a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0003t0001g0191 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0206 a0001c0003t0001g0275 a0001c0003t0001g0292 a0001c0003t0006g0196 a0001c0038t0005g0285 a0011c0020t0001g0180 a0019c0042t0001g0152	20	30	0.6667	14	c.109 others(35): Show c.10996-2425_10996-2412dupTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100048771	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	67	0.0149	14	c.371 others(31): Show c.3719-589_3719-576dupACACACACACACAC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp1 NA20300.hp1 NA21309.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0018 a0001c0001 a0022c0018	a0001c0001t0001 a0022c0018t0001 a0001c0001t0001 a0022c0018t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0145 others(3): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0145 a0001c0001t0001g0160 a0001c0001t0001g0168 a0022c0018t0001g0060	6	37	0.1622	14	c.45- others(31): Show c.45-16402_45-16389dupTATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124974	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02055.hp2 HG02451.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0023 a0001c0001 a0015c0023	a0001c0001t0001 a0015c0023t0002 a0001c0001t0001 a0015c0023t0002	a0001c0001t0001g0105 a0015c0023t0002g0177 a0001c0001t0001g0105 a0015c0023t0002g0177	2	172	0.0116	14	c.45- others(31): Show c.45-16427_45-16426insAATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	66	0.0152	14	c.44+ others(31): Show c.44+11596_44+11609dupTCTCTCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40448608	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18612.hp2 NA18989.hp2 others(2): Show HG03540.hp1 NA18612.hp2 NA18989.hp2 NA18994.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0204 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214	5	53	0.0943	14	c.464 others(29): Show c.464-576_464-563dupATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar

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