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
BIRC6_chr2_32352023_32623878	32461126	T T	TCCTCTCC others(3): Show TCCTCTCCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0005 a0001c0031t0005	a0001c0031t0005g0182 a0001c0031t0005g0182	1	274	0.0037	10	c.475 others(29): Show c.4754-2064_4754-2063insTCCTCCCCTC	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(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp2 HG02572.hp1 others(2): Show HG01884.hp2 HG02004.hp2 HG02572.hp1 HG02965.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0001c0014 others(1): Show a0001c0001 a0001c0013 a0001c0014 a0002c0034	a0001c0001t0001 a0001c0013t0003 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0013t0003 a0001c0014t0001 a0002c0034t0002	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0013t0003g0152 others(2): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0013t0003g0152 a0001c0014t0001g0158 a0002c0034t0002g0057	5	274	0.0183	10	c.475 others(29): Show c.4754-1820_4754-1811dupGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01928.hp2 NA18944.hp1 others(1): Show HG00639.hp2 HG01928.hp2 NA18944.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0114 others(1): Show a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0114 a0002c0002t0003g0046	4	274	0.0146	10	c.740 others(27): Show c.7409-671_7409-662dupTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03704.hp1 homoSapiens_chm13v2.hp1 HG01167.hp1 HG03704.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0020 a0002c0002 a0005c0020	a0002c0002t0003 a0005c0020t0003 a0002c0002t0003 a0005c0020t0003	a0002c0002t0003g0164 a0002c0002t0003g0165 a0005c0020t0003g0012 a0002c0002t0003g0164 a0002c0002t0003g0165 a0005c0020t0003g0012	3	274	0.0110	10	c.949 others(27): Show c.9499+832_9499+841dupGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0063 a0001c0010t0002g0063	1	274	0.0037	10	c.998 others(25): Show c.9980+35_9980+44dupTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32521365	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0023 a0001c0003t0003g0023	1	274	0.0037	10	c.116 others(31): Show c.11623+2438_11623+2447dupAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	57/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(36): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01346.hp1 HG01891.hp1 HG02004.hp2 HG02135.hp2 HG02258.hp1 HG02717.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03239.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18973.hp2 NA18983.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0021 a0001c0025 a0001c0038 a0001c0046 a0001c0048 a0002c0002 a0002c0004 a0002c0024 a0002c0027 a0002c0034	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0006t0003 a0001c0021t0002 a0001c0025t0002 a0001c0038t0001 a0001c0046t0001 a0001c0048t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0002c0024t0002 a0002c0027t0002 a0002c0034t0002	a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0186 others(36): Show a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0211 a0001c0001t0002g0240 a0001c0003t0003g0127 a0001c0005t0001g0230 a0001c0006t0003g0002 a0001c0006t0003g0009 a0001c0006t0003g0010 a0001c0006t0003g0013 a0001c0021t0002g0176 a0001c0025t0002g0177 a0001c0038t0001g0038 a0001c0046t0001g0232 a0001c0048t0002g0155 a0002c0002t0001g0210 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0003g0160 a0002c0004t0001g0086 a0002c0004t0002g0062 a0002c0004t0002g0066 a0002c0004t0002g0070 a0002c0004t0002g0095 a0002c0004t0002g0111 a0002c0004t0002g0166 a0002c0004t0002g0200 a0002c0024t0002g0048 a0002c0024t0002g0049 a0002c0027t0002g0068 a0002c0027t0002g0069 a0002c0034t0002g0057	39	274	0.1423	10	c.122 others(29): Show c.12291+611_12291+620dupTGTGTGTGTG	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(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG04199.hp2 HG00639.hp2 HG01069.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0002 a0002c0004t0002 a0001c0001t0001 a0002c0002t0002 a0002c0004t0002	a0001c0001t0001g0202 a0002c0002t0002g0088 a0002c0004t0002g0200 a0001c0001t0001g0202 a0002c0002t0002g0088 a0002c0004t0002g0200	3	274	0.0110	10	c.131 others(31): Show c.13144+3744_13144+3753dupAAAAAAAAAA	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(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp1 HG03139.hp1 HG02615.hp2 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0003 a0001c0014t0001 a0001c0014t0003	a0001c0014t0001g0156 a0001c0014t0001g0158 a0001c0014t0003g0157 a0001c0014t0001g0156 a0001c0014t0001g0158 a0001c0014t0003g0157	3	274	0.0110	10	c.133 others(31): Show c.13355+3615_13355+3624dupTATATATATA	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(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(64): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp2 HG02273.hp1 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03491.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18973.hp1 NA18983.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0012 a0014	a0001c0010 a0002c0002 a0002c0004 others(11): Show a0001c0010 a0002c0002 a0002c0004 a0002c0016 a0002c0022 a0002c0024 a0002c0027 a0002c0034 a0002c0036 a0002c0044 a0009c0040 a0010c0042 a0012c0033 a0014c0032	a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 others(14): Show a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0004t0002 a0002c0016t0002 a0002c0022t0002 a0002c0024t0002 a0002c0027t0002 a0002c0034t0002 a0002c0036t0012 a0002c0044t0002 a0009c0040t0003 a0010c0042t0002 a0012c0033t0011 a0014c0032t0002	a0001c0010t0002g0052 a0001c0010t0002g0063 a0001c0010t0002g0140 others(64): Show a0001c0010t0002g0052 a0001c0010t0002g0063 a0001c0010t0002g0140 a0001c0010t0002g0253 a0002c0002t0001g0093 a0002c0002t0001g0210 a0002c0002t0002g0030 a0002c0002t0002g0047 a0002c0002t0002g0053 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0122 a0002c0002t0002g0141 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0201 a0002c0002t0003g0150 a0002c0004t0001g0086 a0002c0004t0002g0062 a0002c0004t0002g0066 a0002c0004t0002g0070 a0002c0004t0002g0095 a0002c0004t0002g0111 a0002c0004t0002g0146 a0002c0004t0002g0166 a0002c0004t0002g0167 a0002c0004t0002g0169 a0002c0004t0002g0170 a0002c0004t0002g0172 a0002c0004t0002g0173 a0002c0004t0002g0174 a0002c0004t0002g0180 a0002c0004t0002g0200 a0002c0016t0002g0082 a0002c0016t0002g0090 a0002c0016t0002g0096 a0002c0022t0002g0054 a0002c0022t0002g0055 a0002c0024t0002g0048 a0002c0024t0002g0049 a0002c0027t0002g0068 a0002c0027t0002g0069 a0002c0034t0002g0057 a0002c0036t0012g0104 a0002c0044t0002g0106 a0009c0040t0003g0168 a0010c0042t0002g0084 a0012c0033t0011g0149 a0014c0032t0002g0171	67	274	0.2445	10	c.142 others(31): Show c.14259+1660_14259+1669dupGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(3): Show CAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(176): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0001c0001t0001g0000 a0002c0002t0001g0000	179	434	0.4124	10	c.35 others(21): Show c.3524_*3525insTGTTTTGTTT	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(3): Show GAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp1 HG01517.hp1 others(6): Show HG01261.hp1 HG01515.hp1 HG01517.hp1 HG02572.hp1 HG02622.hp1 HG02818.hp2 HG03209.hp2 NA18906.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0002c0007	a0001c0001t0002 a0001c0001t0015 a0001c0003t0007 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0003t0007 a0001c0019t0003 a0002c0007t0001 a0002c0007t0005	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0015g0073 others(6): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0015g0073 a0001c0003t0007g0062 a0001c0019t0003g0094 a0002c0007t0001g0294 a0002c0007t0005g0239 a0002c0007t0005g0240 a0002c0007t0005g0241	9	308	0.0292	10	c.-2+ others(25): Show c.-2+9815_-2+9824dupGAAAAGAAAA	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(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG02647.hp1 others(4): Show HG00741.hp2 HG02280.hp1 HG02647.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp1 NA19077.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0017t0001 a0009c0019t0001	a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0002g0175 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0002g0175 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0017t0001g0019 a0009c0019t0001g0006	7	280	0.0250	10	c.-4- others(27): Show c.-4-12126_-4-12117dupATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90738564	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	280	0.0036	10	c.-4- others(25): Show c.-4-8795_-4-8786dupCAAAACAAAA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90797414	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp2 HG03098.hp1 HG01175.hp1 HG02257.hp2 HG03098.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0003 a0005c0007t0002 a0003c0003t0003 a0005c0007t0002	a0003c0003t0003g0248 a0005c0007t0002g0220 a0005c0007t0002g0258 a0003c0003t0003g0248 a0005c0007t0002g0220 a0005c0007t0002g0258	3	280	0.0107	10	c.321 others(27): Show c.3211-754_3211-745dupAAAAAAAAAA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02976.hp1 HG00639.hp1 HG00735.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0031 a0001c0002t0011 a0001c0001t0011 a0001c0001t0031 a0001c0002t0011	a0001c0001t0011g0176 a0001c0001t0031g0296 a0001c0002t0011g0190 a0001c0001t0011g0176 a0001c0001t0031g0296 a0001c0002t0011g0190	3	322	0.0093	10	c.125 others(29): Show c.1251+2130_1251+2139dupAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16			chr10	TogoVar
BLNK_chr10_96184171_96276569	96229654	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG01074.hp2 others(38): Show HG00140.hp1 HG00609.hp2 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02257.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03831.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18948.hp2 NA18949.hp1 NA18955.hp2 NA18956.hp2 NA18985.hp1 NA18990.hp1 NA19068.hp1 NA19078.hp2 NA19086.hp1 NA19086.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0039 a0001c0001t0044 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0033 a0001c0004t0001 a0001c0004t0008 a0001c0004t0029 a0001c0007t0026 a0002c0013t0046	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 others(38): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0193 a0001c0001t0001g0249 a0001c0001t0001g0265 a0001c0001t0002g0300 a0001c0001t0004g0255 a0001c0001t0005g0065 a0001c0001t0006g0126 a0001c0001t0007g0035 a0001c0001t0007g0275 a0001c0001t0012g0141 a0001c0001t0012g0187 a0001c0001t0015g0062 a0001c0001t0015g0136 a0001c0001t0039g0299 a0001c0001t0044g0312 a0001c0002t0001g0015 a0001c0002t0001g0050 a0001c0002t0001g0267 a0001c0002t0001g0277 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0280 a0001c0002t0005g0098 a0001c0002t0005g0199 a0001c0002t0005g0279 a0001c0002t0014g0236 a0001c0002t0014g0256 a0001c0002t0033g0016 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0008g0063 a0001c0004t0008g0064 a0001c0004t0029g0286 a0001c0007t0026g0036 a0002c0013t0046g0308	41	322	0.1273	10	c.204 others(27): Show c.204+1130_204+1139dupCACACACACA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	4/16			chr10	TogoVar
BLOC1S1_chr12_55711046_55724703	55714517	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00735.hp1 others(25): Show HG00423.hp1 HG00733.hp1 HG00735.hp1 HG01243.hp2 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG02258.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02735.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03669.hp1 NA18971.hp1 NA18989.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033	28	410	0.0683	10	c.-15 others(21): Show c.-1535_-1534insAAAAAAAAAA	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1528		chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100281703	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02486.hp2 others(5): Show HG01255.hp1 HG02145.hp2 HG02486.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0007 others(1): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0007 a0002c0002t0013	a0001c0001t0003g0159 a0002c0002t0003g0217 a0002c0002t0003g0218 others(5): Show a0001c0001t0003g0159 a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0007g0212 a0002c0002t0007g0213 a0002c0002t0007g0220 a0002c0002t0007g0221 a0002c0002t0013g0219	8	378	0.0212	10	c.173 others(25): Show c.173-651_173-650insGTGTATATAT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281705	T T	TACACACA others(3): Show TACACACATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0257 a0001c0003t0005g0257	1	378	0.0027	10	c.173 others(25): Show c.173-653_173-652insGTATGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100281711	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(22): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00735.hp2 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02258.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03225.hp2 HG03927.hp1 HG06807.hp2 NA18944.hp1 NA19043.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0003t0005	a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0166 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0002g0176 a0001c0001t0006g0208 a0001c0001t0012g0037 a0001c0003t0005g0044	25	378	0.0661	10	c.173 others(25): Show c.173-668_173-659dupGTGTGTGTGT	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	2/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02257.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0016 a0001c0001t0012 a0001c0001t0016	a0001c0001t0012g0001 a0001c0001t0016g0001 a0001c0001t0012g0001 a0001c0001t0016g0001	2	426	0.0047	10	c.-16 others(21): Show c.-1650_-1649insCACACACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	G G	GCGCACAC others(3): Show GCGCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0019 a0004c0007t0019	a0004c0007t0019g0001 a0004c0007t0019g0001	1	426	0.0024	10	c.-16 others(21): Show c.-1650_-1649insCGCACACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	G G	GCGCGCAC others(3): Show GCGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02965.hp2 others(1): Show HG01884.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0020 a0001c0001t0015 a0001c0001t0020	a0001c0001t0015g0002 a0001c0001t0020g0002 a0001c0001t0015g0002 a0001c0001t0020g0002	4	426	0.0094	10	c.-16 others(21): Show c.-1650_-1649insCGCGCACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01943.hp1 HG02055.hp1 others(4): Show HG01496.hp1 HG01943.hp1 HG02055.hp1 HG02145.hp2 HG02622.hp2 HG04204.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0033 a0001c0001t0010 a0001c0001t0014 a0001c0001t0033	a0001c0001t0010g0001 a0001c0001t0014g0001 a0001c0001t0033g0001 a0001c0001t0010g0001 a0001c0001t0014g0001 a0001c0001t0033g0001	7	426	0.0164	10	c.34 others(19): Show c.345_*354dupTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	355	INFO_REALIGN_3_PRIME	chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8017385	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(63): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01261.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02622.hp2 HG02809.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19074.hp2 NA19082.hp1 NA19086.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0087 a0001c0001t0003g0002 a0001c0001t0003g0004 others(53): Show a0001c0001t0001g0087 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0273 a0001c0001t0003g0336 a0001c0001t0016g0148 a0001c0001t0017g0146 a0001c0001t0019g0217	66	364	0.1813	10	c.385 others(27): Show c.385-1567_385-1558dupGTGTGTGTGT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8022570	T T	TTTTTTTT others(3): Show TTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	364	0.0028	10	c.384 others(27): Show c.384+3796_384+3797insGAAAAAAAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02723.hp1 others(4): Show HG01361.hp1 HG02055.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0187 a0001c0001t0006g0196 a0001c0001t0006g0197 others(4): Show a0001c0001t0001g0187 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202	7	364	0.0192	10	c.326 others(27): Show c.326-4450_326-4441dupTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8036294	A A	ACAATGAA others(3): Show ACAATGAACCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02258.hp1 others(12): Show HG01099.hp2 HG02109.hp1 HG02258.hp1 HG02622.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0203 a0001c0001t0005g0204 others(11): Show a0001c0001t0005g0018 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0305	15	364	0.0412	10	c.325 others(27): Show c.325+4844_325+4845insAGGTTCATTG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG04199.hp1 HG02630.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0151 a0001c0001t0013g0291 a0001c0001t0004g0151 a0001c0001t0013g0291	2	364	0.0055	10	c.196 others(25): Show c.196-388_196-387insAAAAAAAAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCACAC others(3): Show TCTCACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp1 HG02922.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0285 a0001c0001t0005g0286	2	364	0.0055	10	c.196 others(27): Show c.196-5893_196-5892insTGTGTGTGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCAC others(3): Show TCTCTCACACA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18999.hp1 NA19063.hp2 NA18942.hp1 NA18999.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0336 a0001c0001t0003g0016 a0001c0001t0003g0336	3	364	0.0082	10	c.196 others(27): Show c.196-5893_196-5892insTGTGTGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(3): Show TCTCTCTCACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02155.hp1 HG00423.hp1 HG00544.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030	3	364	0.0082	10	c.196 others(27): Show c.196-5893_196-5892insTGTGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	T T	TCTCTCTC others(3): Show TCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	364	0.0028	10	c.196 others(27): Show c.196-5893_196-5892insTGAGAGAGAG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S6_chr15_45582379_45614708	45584853	T T	TTGACCTC others(3): Show TTGACCTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01123.hp1 HG01168.hp1 others(9): Show HG00099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01978.hp2 HG02683.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0063	12	362	0.0332	10	c.-25 others(21): Show c.-2591_-2590insTGACCTCAGG	BLOC1S6	ENSG00000104164.12	transcript	ENST00000220531.9	protein_coding		2525		chr15	TogoVar
BLTP1_chr4_122147331_122367752	122205785	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02965.hp1 others(3): Show HG01257.hp2 HG01258.hp2 HG02965.hp1 HG03471.hp2 NA18906.hp1 NA18979.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0005 a0002c0004 a0009c0018 others(1): Show a0001c0005 a0002c0004 a0009c0018 a0014c0035	a0001c0005t0001 a0002c0004t0001 a0009c0018t0001 others(1): Show a0001c0005t0001 a0002c0004t0001 a0009c0018t0001 a0014c0035t0001	a0001c0005t0001g0107 a0001c0005t0001g0108 a0002c0004t0001g0151 others(3): Show a0001c0005t0001g0107 a0001c0005t0001g0108 a0002c0004t0001g0151 a0009c0018t0001g0114 a0009c0018t0001g0115 a0014c0035t0001g0142	6	336	0.0179	10	c.149 others(29): Show c.1499-1302_1499-1293dupACACACACAC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	15/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122262148	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(77): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG02976.hp1 HG03225.hp1 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0016	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0015 a0001c0016 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0003c0006 a0005c0013 a0005c0031 a0016c0030	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0009t0001 a0001c0015t0001 a0001c0016t0001 a0001c0023t0001 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0032t0001 a0001c0033t0001 a0003c0006t0001 a0005c0013t0001 a0005c0031t0001 a0016c0030t0001	a0001c0001t0001g0155 a0001c0001t0001g0207 a0001c0001t0001g0216 others(77): Show a0001c0001t0001g0155 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0272 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0120 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0282 a0001c0003t0001g0292 a0001c0007t0001g0283 a0001c0009t0001g0082 a0001c0009t0001g0168 a0001c0015t0001g0078 a0001c0015t0001g0079 a0001c0016t0001g0028 a0001c0016t0001g0029 a0001c0023t0001g0249 a0001c0025t0001g0022 a0001c0027t0001g0080 a0001c0028t0001g0072 a0001c0032t0001g0176 a0001c0033t0001g0052 a0003c0006t0001g0043 a0005c0013t0001g0198 a0005c0031t0001g0197 a0016c0030t0001g0202	80	336	0.2381	10	c.676 others(27): Show c.6763-586_6763-577dupGTGTGTGTGT	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(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03453.hp1 NA18940.hp2 others(2): Show HG00733.hp1 HG03453.hp1 NA18940.hp2 NA19057.hp1 NA19066.hp1	a0001 a0009 a0012 a0001 a0009 a0012	a0001c0003 a0009c0021 a0012c0041 a0001c0003 a0009c0021 a0012c0041	a0001c0003t0001 a0009c0021t0010 a0012c0041t0001 a0001c0003t0001 a0009c0021t0010 a0012c0041t0001	a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0282 others(2): Show a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0282 a0009c0021t0010g0116 a0012c0041t0001g0233	5	336	0.0149	10	c.749 others(27): Show c.7493+109_7493+118dupTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122290812	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	336	0.0030	10	c.938 others(29): Show c.9388+1648_9388+1657dupCACACACACA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	54/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122290812	T T	TATACACA others(3): Show TATACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	336	0.0030	10	c.938 others(29): Show c.9388+1621_9388+1622insTACACACACA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	54/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122312613	A A	AGGTACTA others(3): Show AGGTACTATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00733.hp2 others(37): Show HG00558.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01169.hp2 HG01243.hp1 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp2 NA18968.hp2 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18991.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1	a0001 a0019 a0001 a0019	a0001c0002 a0001c0009 a0001c0028 others(2): Show a0001c0002 a0001c0009 a0001c0028 a0001c0033 a0019c0026	a0001c0002t0001 a0001c0002t0008 a0001c0009t0001 others(3): Show a0001c0002t0001 a0001c0002t0008 a0001c0009t0001 a0001c0028t0001 a0001c0033t0001 a0019c0026t0001	a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0035 others(36): Show a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0008g0294 a0001c0009t0001g0081 a0001c0009t0001g0082 a0001c0009t0001g0083 a0001c0009t0001g0168 a0001c0028t0001g0072 a0001c0033t0001g0052 a0019c0026t0001g0058	40	336	0.1191	10	c.102 others(31): Show c.10253-1014_10253-1005dupGGTACTATAC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	59/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02647.hp1 HG00733.hp1 HG02647.hp1	a0001 a0012 a0001 a0012	a0001c0038 a0012c0041 a0001c0038 a0012c0041	a0001c0038t0001 a0012c0041t0001 a0001c0038t0001 a0012c0041t0001	a0001c0038t0001g0103 a0012c0041t0001g0233 a0001c0038t0001g0103 a0012c0041t0001g0233	2	336	0.0060	10	c.109 others(31): Show c.10996-2421_10996-2412dupTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122327099	G G	GTGTTTTG others(3): Show GTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(77): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0008 a0012 a0016 a0020	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0023 a0001c0032 a0001c0033 a0001c0034 a0002c0004 a0003c0006 a0005c0013 a0008c0011 a0012c0041 a0016c0030 a0020c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0005t0002 a0001c0007t0001 a0001c0023t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0002c0004t0001 a0003c0006t0001 a0005c0013t0001 a0008c0011t0001 a0012c0041t0001 a0016c0030t0001 a0020c0036t0001	a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0188 others(77): Show a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0188 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0003g0260 a0001c0001t0003g0278 a0001c0001t0004g0175 a0001c0002t0001g0008 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0213 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0229 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0292 a0001c0003t0006g0196 a0001c0005t0002g0004 a0001c0007t0001g0238 a0001c0007t0001g0239 a0001c0007t0001g0240 a0001c0007t0001g0241 a0001c0007t0001g0242 a0001c0007t0001g0244 a0001c0007t0001g0245 a0001c0007t0001g0247 a0001c0023t0001g0249 a0001c0032t0001g0176 a0001c0033t0001g0052 a0001c0034t0001g0286 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0158 a0003c0006t0001g0009 a0003c0006t0001g0011 a0003c0006t0001g0013 a0005c0013t0001g0198 a0005c0013t0001g0226 a0005c0013t0001g0227 a0008c0011t0001g0112 a0012c0041t0001g0233 a0016c0030t0001g0202 a0020c0036t0001g0256	80	336	0.2381	10	c.112 others(29): Show c.11260-979_11260-970dupTGTTTTGTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	67/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34798594	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02818.hp2 HG00738.hp1 HG01109.hp2 HG02818.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0005 a0009c0010t0017 a0009c0010t0005 a0009c0010t0017	a0009c0010t0005g0041 a0009c0010t0017g0039 a0009c0010t0017g0040 a0009c0010t0005g0041 a0009c0010t0017g0039 a0009c0010t0017g0040	3	312	0.0096	10	c.44+ others(25): Show c.44+6303_44+6304insCTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34798594	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0004 a0021 a0004 a0021	a0004c0015 a0021c0026 a0004c0015 a0021c0026	a0004c0015t0011 a0021c0026t0005 a0004c0015t0011 a0021c0026t0005	a0004c0015t0011g0162 a0021c0026t0005g0046 a0004c0015t0011g0162 a0021c0026t0005g0046	2	312	0.0064	10	c.44+ others(25): Show c.44+6310_44+6319dupTTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34808346	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(23): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02027.hp2 HG02155.hp2 HG03710.hp2 HG04115.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19007.hp2 NA19063.hp1 NA19068.hp1 NA19080.hp1 NA19084.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0032 a0002c0002 a0015c0032	a0002c0002t0002 a0002c0002t0023 a0002c0002t0036 others(3): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0036 a0002c0002t0037 a0002c0002t0042 a0015c0032t0002	a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 others(23): Show a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0036g0095 a0002c0002t0037g0074 a0002c0002t0042g0050 a0015c0032t0002g0096	26	312	0.0833	10	c.45- others(27): Show c.45-13292_45-13283dupAAAAAAAAAA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34846077	T T	TCCCTCCC others(3): Show TCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(56): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG01109.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02965.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1	a0002 a0004 a0009 others(2): Show a0002 a0004 a0009 a0013 a0015	a0002c0002 a0004c0004 a0009c0010 others(2): Show a0002c0002 a0004c0004 a0009c0010 a0013c0033 a0015c0032	a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 others(7): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 a0002c0002t0040 a0002c0002t0042 a0004c0004t0005 a0009c0010t0005 a0009c0010t0017 a0013c0033t0002 a0015c0032t0002	a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(56): Show a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0037g0074 a0002c0002t0040g0078 a0002c0002t0042g0050 a0004c0004t0005g0011 a0004c0004t0005g0012 a0004c0004t0005g0013 a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0016 a0004c0004t0005g0017 a0004c0004t0005g0021 a0009c0010t0005g0041 a0009c0010t0017g0039 a0009c0010t0017g0040 a0013c0033t0002g0070 a0015c0032t0002g0096	59	312	0.1891	10	c.103 others(29): Show c.1034-9512_1034-9503dupCTCCCCTCCC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34847921	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02074.hp1 others(13): Show HG01123.hp1 HG01884.hp2 HG02074.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02683.hp2 HG03516.hp2 HG03669.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18972.hp1 NA18977.hp1 NA19063.hp1 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0014 a0004c0015 a0006c0007	a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 others(9): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 a0003c0003t0003 a0004c0004t0005 a0004c0004t0010 a0004c0004t0031 a0004c0014t0011 a0004c0015t0011 a0006c0007t0019 a0006c0007t0024 a0006c0007t0035	a0001c0001t0001g0187 a0002c0002t0002g0048 a0002c0002t0002g0079 others(13): Show a0001c0001t0001g0187 a0002c0002t0002g0048 a0002c0002t0002g0079 a0002c0002t0002g0088 a0002c0002t0036g0095 a0003c0003t0003g0152 a0004c0004t0005g0007 a0004c0004t0010g0036 a0004c0004t0031g0163 a0004c0014t0011g0042 a0004c0014t0011g0043 a0004c0015t0011g0162 a0006c0007t0019g0307 a0006c0007t0019g0308 a0006c0007t0024g0018 a0006c0007t0035g0306	16	312	0.0513	10	c.103 others(29): Show c.1034-7693_1034-7692insCTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34852533	C C	CCCTCTCC others(3): Show CCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02257.hp2 HG03098.hp2 others(4): Show HG02015.hp2 HG02257.hp2 HG03098.hp2 HG03209.hp1 HG03540.hp1 HG03669.hp1 NA18965.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0006c0007 a0007c0008	a0001c0001t0001 a0001c0001t0006 a0002c0002t0040 others(3): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0040 a0004c0004t0005 a0006c0007t0035 a0007c0008t0013	a0001c0001t0001g0250 a0001c0001t0006g0176 a0002c0002t0040g0078 others(4): Show a0001c0001t0001g0250 a0001c0001t0006g0176 a0002c0002t0040g0078 a0004c0004t0005g0044 a0004c0004t0005g0045 a0006c0007t0035g0306 a0007c0008t0013g0157	7	312	0.0224	10	c.103 others(29): Show c.1034-3044_1034-3035dupTCCTCTCCTC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100048771	A A	AGAGTGAG others(3): Show AGAGTGAGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	188	0.0053	10	c.371 others(27): Show c.3719-576_3719-575insACACTCACTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar

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