Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 HG02717.hp1 HG02965.hp1	a0002 a0008 a0002 a0008	a0002c0051 a0008c0011 a0002c0051 a0008c0011	a0002c0051t0003 a0008c0011t0005 a0002c0051t0003 a0008c0011t0005	a0002c0051t0003g0091 a0008c0011t0005g0117 a0002c0051t0003g0091 a0008c0011t0005g0117	2	45	0.0444	17	c.32- others(34): Show c.32-31463_32-31447dupAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00673.hp1 others(50): Show HG00140.hp1 HG00280.hp1 HG00673.hp1 HG01074.hp1 HG01255.hp1 HG01258.hp1 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG03130.hp1 HG03195.hp2 HG03492.hp1 HG03654.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19085.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0021 a0028 a0029 a0032 a0033 a0034 a0035	a0001c0001 a0001c0002 a0001c0053 others(30): Show a0001c0001 a0001c0002 a0001c0053 a0002c0005 a0002c0009 a0002c0013 a0002c0016 a0002c0023 a0003c0003 a0003c0010 a0004c0004 a0004c0012 a0005c0022 a0006c0006 a0006c0030 a0007c0018 a0007c0019 a0010c0014 a0011c0038 a0012c0033 a0013c0048 a0014c0050 a0015c0017 a0016c0055 a0017c0036 a0019c0032 a0021c0060 a0028c0028 a0029c0040 a0032c0045 a0033c0049 a0034c0035 a0035c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0010 a0001c0053t0001 a0002c0005t0001 a0002c0009t0007 a0002c0013t0002 a0002c0016t0001 a0002c0023t0009 a0003c0003t0001 a0003c0010t0001 a0004c0004t0001 a0004c0012t0001 a0005c0022t0016 a0006c0006t0001 a0006c0030t0004 a0007c0018t0001 a0007c0019t0001 a0010c0014t0005 a0011c0038t0001 a0012c0033t0001 a0013c0048t0001 a0014c0050t0009 a0015c0017t0001 a0016c0055t0001 a0017c0036t0001 a0019c0032t0001 a0021c0060t0001 a0028c0028t0004 a0029c0040t0002 a0032c0045t0001 a0033c0049t0001 a0034c0035t0001 a0035c0027t0001	a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0001g0071 others(50): Show a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0002g0029 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0001t0006g0097 a0001c0001t0010g0008 a0001c0002t0001g0047 a0001c0002t0001g0068 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0114 a0001c0002t0010g0093 a0001c0053t0001g0096 a0002c0005t0001g0017 a0002c0005t0001g0043 a0002c0009t0007g0018 a0002c0013t0002g0124 a0002c0016t0001g0057 a0002c0023t0009g0011 a0003c0003t0001g0046 a0003c0010t0001g0055 a0003c0010t0001g0063 a0004c0004t0001g0084 a0004c0012t0001g0030 a0004c0012t0001g0064 a0005c0022t0016g0107 a0006c0006t0001g0013 a0006c0006t0001g0044 a0006c0006t0001g0106 a0006c0030t0004g0070 a0007c0018t0001g0095 a0007c0019t0001g0058 a0010c0014t0005g0074 a0011c0038t0001g0045 a0012c0033t0001g0102 a0013c0048t0001g0066 a0014c0050t0009g0123 a0015c0017t0001g0111 a0016c0055t0001g0041 a0017c0036t0001g0049 a0019c0032t0001g0009 a0021c0060t0001g0113 a0028c0028t0004g0024 a0029c0040t0002g0062 a0032c0045t0001g0078 a0033c0049t0001g0119 a0034c0035t0001g0079 a0035c0027t0001g0023	53	66	0.8030	17	c.32- others(34): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79050273	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG02818.hp2 HG02965.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0006 a0002c0004 a0004c0006	a0002c0004t0001 a0004c0006t0001 a0002c0004t0001 a0004c0006t0001	a0002c0004t0001g0177 a0004c0006t0001g0075 a0002c0004t0001g0177 a0004c0006t0001g0075	2	351	0.0057	17	c.745 others(34): Show c.745+1013_745+1014insATATATATATATTTTTT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15			chr5	TogoVar
DMGDH_chr5_78992564_79074674	79050273	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0179 a0002c0004t0001g0179	1	350	0.0029	17	c.745 others(34): Show c.745+1013_745+1014insATATATATATATATTTT	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15			chr5	TogoVar
DMGDH_chr5_78992564_79074674	79050273	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0076 a0004c0006t0001g0076	1	350	0.0029	17	c.745 others(34): Show c.745+1013_745+1014insATATATATATATATATA	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	5/15			chr5	TogoVar
DMKN_chr19_35492220_35518649	35517958	A A	AGTGATCC others(10): Show AGTGATCCACCCGCCTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	440	0.0023	17	c.-44 others(28): Show c.-4484_-4483insCTAGGCGGGTGGATCAC	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding		4310		chr19	TogoVar
DMP1_chr4_87645280_87669357	87653407	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0099 a0002c0001t0018g0099	1	422	0.0024	17	c.-22 others(34): Show c.-22+3024_-22+3040dupTATATATATATATATAT	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20300.hp1 HG02615.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0017 a0003c0004t0001 a0001c0001t0017 a0003c0004t0001	a0001c0001t0017g0005 a0003c0004t0001g0004 a0001c0001t0017g0005 a0003c0004t0001g0004	2	98	0.0204	17	c.354 others(30): Show c.354+38_354+39insGTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4			chr9	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0295 a0003c0008t0001g0295	1	97	0.0103	17	c.354 others(30): Show c.354+45_354+61dupTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	870709	C C	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	61	0.0164	17	c.539 others(36): Show c.539-23202_539-23201insCTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	900164	C C	CTGTATTT others(10): Show CTGTATTTGAAACTGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(126): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0011 others(5): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0003c0004 a0003c0008 a0004c0012 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0011t0021 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0003c0004t0001 a0003c0004t0013 a0003c0008t0001 a0004c0012t0001 a0005c0009t0005	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 others(126): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0181 a0001c0001t0002g0205 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0274 a0001c0001t0004g0064 a0001c0001t0004g0129 a0001c0001t0004g0148 a0001c0001t0004g0171 a0001c0001t0004g0177 a0001c0001t0004g0180 a0001c0001t0004g0184 a0001c0001t0004g0208 a0001c0001t0004g0304 a0001c0001t0007g0206 a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0008g0173 a0001c0001t0008g0176 a0001c0001t0010g0256 a0001c0001t0012g0172 a0001c0001t0012g0191 a0001c0001t0012g0193 a0001c0001t0013g0074 a0001c0001t0014g0001 a0001c0001t0014g0167 a0001c0001t0015g0151 a0001c0001t0016g0267 a0001c0003t0002g0212 a0001c0003t0004g0211 a0001c0003t0007g0288 a0001c0003t0007g0289 a0001c0003t0007g0290 a0001c0011t0021g0183 a0002c0002t0003g0006 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0016 a0002c0002t0003g0022 a0002c0002t0003g0025 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0034 a0002c0002t0003g0038 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0067 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0005g0007 a0002c0002t0005g0023 a0002c0002t0005g0024 a0002c0002t0005g0027 a0002c0002t0005g0029 a0002c0002t0005g0031 a0002c0002t0005g0039 a0002c0002t0005g0050 a0002c0002t0005g0051 a0002c0002t0005g0063 a0002c0002t0006g0026 a0002c0002t0006g0035 a0002c0002t0006g0037 a0002c0002t0006g0070 a0002c0002t0006g0077 a0002c0002t0006g0083 a0002c0002t0011g0052 a0002c0002t0011g0057 a0002c0002t0018g0040 a0002c0002t0019g0078 a0003c0004t0001g0122 a0003c0004t0013g0090 a0003c0008t0001g0195 a0004c0012t0001g0157 a0005c0009t0005g0046	129	304	0.4243	17	c.822 others(34): Show c.822+5970_822+5971insGTATTTGAAACTGAGAT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01993.hp2 others(18): Show HG00642.hp1 HG00733.hp2 HG01993.hp2 HG02055.hp1 HG02129.hp1 HG02523.hp2 HG02572.hp1 HG02717.hp1 HG04228.hp1 HG04228.hp2 NA18956.hp1 NA18965.hp1 NA18982.hp2 NA18987.hp1 NA18991.hp1 NA19055.hp2 NA19066.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0017	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0002c0019 a0003c0004 a0005c0006 a0017c0022	a0001c0002t0002 a0001c0003t0023 a0001c0005t0001 others(8): Show a0001c0002t0002 a0001c0003t0023 a0001c0005t0001 a0001c0005t0004 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0019t0001 a0003c0004t0009 a0005c0006t0017 a0017c0022t0001	a0001c0002t0002g0002 a0001c0003t0023g0064 a0001c0005t0001g0008 others(10): Show a0001c0002t0002g0002 a0001c0003t0023g0064 a0001c0005t0001g0008 a0001c0005t0004g0065 a0002c0001t0001g0001 a0002c0001t0001g0014 a0002c0001t0001g0029 a0002c0001t0003g0099 a0002c0001t0004g0001 a0002c0019t0001g0001 a0003c0004t0009g0098 a0005c0006t0017g0082 a0017c0022t0001g0014	21	254	0.0827	17	c.34 others(28): Show c.3453_*3454insTTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMRTC1_chrX_72867025_72948837	72897789	A A	AAGAAAGA others(10): Show AAGAAAGAAAAAGGCAAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	54	0.0185	17	c.-94 others(36): Show c.-94-22002_-94-22001insGTTGCCTTTTTCTTTCT	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/6			chrX	TogoVar
DMTF1_chr7_87147453_87201325	87180856	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	302	0.0033	17	c.678 others(32): Show c.678-448_678-432dupTTTTTTTTTTTTTTTTT	DMTF1	ENSG00000135164.19	transcript	ENST00000331242.12	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
DMTF1_chr7_87147453_87201325	87196953	T T	TTATTCCT others(10): Show TTATTCCTACTTTCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	360	0.0028	17	c.18 others(28): Show c.1813_*1814insTATTCCTACTTTCTCAG	DMTF1	ENSG00000135164.19	transcript	ENST00000331242.12	protein_coding		629		chr7	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	AATAATAT others(10): Show AATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	143	0.0070	17	c.836 others(32): Show c.836-900_836-899insATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19000.hp1 NA19000.hp2 HG00639.hp1 NA19000.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0145 a0001c0001t0001g0179 a0001c0001t0001g0185	3	145	0.0207	17	c.836 others(32): Show c.836-903_836-902insTATATATATATATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp1 others(24): Show HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02976.hp1 HG03579.hp1 HG03834.hp2 HG04115.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18952.hp1 NA18974.hp2 NA18980.hp2 NA19084.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0001 a0001c0001t0001 a0001c0001t0002 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0002g0094 a0005c0009t0001g0210	27	171	0.1579	17	c.836 others(32): Show c.836-879_836-878insATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMXL1_chr5_119066087_119254127	119077187	T T	TCAAAACC others(10): Show TCAAAACCAAGCCCAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02615.hp2 others(6): Show HG01891.hp1 HG02055.hp2 HG02615.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 NA20129.hp2 NA21309.hp1	a0001 a0015 a0026 a0001 a0015 a0026	a0001c0004 a0015c0025 a0026c0022 a0001c0004 a0015c0025 a0026c0022	a0001c0004t0003 a0015c0025t0003 a0026c0022t0003 a0001c0004t0003 a0015c0025t0003 a0026c0022t0003	a0001c0004t0003g0005 a0001c0004t0003g0007 a0001c0004t0003g0008 others(6): Show a0001c0004t0003g0005 a0001c0004t0003g0007 a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0010 a0001c0004t0003g0012 a0001c0004t0003g0013 a0015c0025t0003g0006 a0026c0022t0003g0011	9	236	0.0381	17	c.87+ others(32): Show c.87+5531_87+5532insCAAAACCAAGCCCAGGA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43			chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0215 a0001c0002t0004g0215	1	145	0.0069	17	c.88- others(32): Show c.88-8686_88-8685insATATATATATATTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089293	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0022 a0022	a0022c0040 a0022c0040	a0022c0040t0001 a0022c0040t0001	a0022c0040t0001g0033 a0022c0040t0001g0033	1	171	0.0058	17	c.88- others(32): Show c.88-8686_88-8685insATATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43			chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089999	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0218 a0001c0012t0012g0218	1	7	0.1429	17	c.88- others(32): Show c.88-7958_88-7942dupTTTTTTTTTTTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51502306	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0050 a0002c0011t0002g0050	1	188	0.0053	17	c.299 others(34): Show c.2992+499_2992+500insCACACACACACACACAC	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	17/43			chr15	TogoVar
DMXL2_chr15_51442791_51627771	51576183	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02451.hp2 HG02622.hp2 others(13): Show HG02080.hp2 HG02451.hp2 HG02622.hp2 HG02965.hp2 HG03579.hp1 HG04115.hp1 NA18747.hp1 NA18950.hp2 NA18971.hp1 NA18978.hp1 NA18988.hp1 NA18992.hp1 NA19056.hp1 NA19074.hp2 NA19078.hp1 NA19240.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0016	a0002c0002 a0002c0006 a0004c0005 others(3): Show a0002c0002 a0002c0006 a0004c0005 a0004c0035 a0005c0009 a0016c0026	a0002c0002t0001 a0002c0006t0001 a0004c0005t0001 others(4): Show a0002c0002t0001 a0002c0006t0001 a0004c0005t0001 a0004c0035t0001 a0005c0009t0001 a0005c0009t0004 a0016c0026t0001	a0002c0002t0001g0232 a0002c0002t0001g0287 a0002c0002t0001g0289 others(13): Show a0002c0002t0001g0232 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0006t0001g0044 a0002c0006t0001g0046 a0004c0005t0001g0317 a0004c0005t0001g0320 a0004c0005t0001g0321 a0004c0005t0001g0323 a0004c0035t0001g0201 a0005c0009t0001g0124 a0005c0009t0004g0125 a0005c0009t0004g0126 a0005c0009t0004g0127 a0005c0009t0004g0128 a0016c0026t0001g0281	16	149	0.1074	17	c.88- others(27): Show c.88-19_88-3dupTTTTTTTTTTTTTTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNA2_chr10_68409064_68476973	68427650	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0064 a0001c0003t0003g0064	1	191	0.0052	17	c.220 others(36): Show c.2208+2785_2208+2786insGTGTGTGTGTGTGTGTG	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	14/20			chr10	TogoVar
DNA2_chr10_68409064_68476973	68437669	A A	AAAAACAA others(10): Show AAAAACAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02895.hp1 others(1): Show HG02630.hp2 HG02818.hp2 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0004 a0001c0002t0004 a0001c0004t0004	a0001c0002t0004g0012 a0001c0004t0004g0032 a0001c0004t0004g0040 others(1): Show a0001c0002t0004g0012 a0001c0004t0004g0032 a0001c0004t0004g0040 a0001c0004t0004g0041	4	73	0.0548	17	c.141 others(34): Show c.1416-429_1416-428insGTTTTTGTTTTTGTTTT	DNA2	ENSG00000138346.16	transcript	ENST00000358410.8	protein_coding	9/20			chr10	TogoVar
DNAAF10_chr2_68124805_68162527	68130131	T T	TATATATA others(10): Show TATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0127 a0001c0001t0052g0127	1	426	0.0023	17	c.11 others(28): Show c.1106_*1107insTATATATATATATATAT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1106		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84141090	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03579.hp2 others(2): Show HG02965.hp1 HG02965.hp2 HG03579.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0004t0001 a0001c0008t0001 a0001c0001t0002 a0001c0004t0001 a0001c0008t0001	a0001c0001t0002g0103 a0001c0001t0002g0123 a0001c0001t0002g0125 others(2): Show a0001c0001t0002g0103 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0004t0001g0158 a0001c0008t0001g0124	5	446	0.0112	17	c.-43 others(28): Show c.-4351_-4350insAAAAAAAAAAAAAAAAA	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4217		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84141099	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0153 a0001c0008t0001g0153	1	451	0.0022	17	c.-43 others(28): Show c.-4342_-4341insAAAAAAAAAAAAAAAAC	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding		4208		chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTCT others(10): Show CTCTCTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0151 a0012c0015t0001g0151	1	78	0.0128	17	c.125 others(32): Show c.125-410_125-409insCTCTCTCTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(10): Show CTCTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG01433.hp2 HG02486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0046 a0005c0009t0001g0047 a0005c0009t0001g0046 a0005c0009t0001g0047	2	79	0.0253	17	c.125 others(32): Show c.125-410_125-409insCTCTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF2_chr14_49620174_49640244	49630669	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0062 a0003c0003t0002g0062	1	158	0.0063	17	c.186 others(36): Show c.1864-2515_1864-2514insTGTGTGTGTGTGTGTGT	DNAAF2	ENSG00000165506.15	transcript	ENST00000298292.13	protein_coding	1/2			chr14	TogoVar
DNAAF3_chr19_55153665_55171613	55167634	A A	AAAAAAAA others(10): Show AAAAAAAAAAGAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01070.hp2 others(50): Show HG00323.hp1 HG00544.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0011c0014	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0004 a0011c0014t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0004t0001g0042 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0101 a0001c0004t0001g0121 a0001c0004t0001g0130 a0002c0003t0001g0024 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0034 a0002c0003t0001g0044 a0002c0003t0001g0049 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0071 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0082 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0004g0054 a0011c0014t0001g0081	53	277	0.1913	17	c.-11 others(28): Show c.-1117_-1116insCTTTTTTCTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1022		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170873	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	383	0.0026	17	c.-43 others(28): Show c.-4356_-4355insGAGAGAGAGAGAGAGAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4261		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55498593	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	153	0.0065	17	c.-25 others(32): Show c.-255-26_-255-10dupTTTTTTTTTTTTTTTTT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	1/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107229127	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18998.hp1 HG03486.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0002g0140 a0001c0001t0001g0160 a0001c0001t0002g0140	2	99	0.0202	17	c.429 others(34): Show c.429+6298_429+6314dupTTTTTTTTTTTTTTTTT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3268897	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0347 a0001c0003t0006g0347	1	149	0.0067	17	c.278 others(36): Show c.2786+1513_2786+1529dupAAAAAAAAAAAAAAAAA	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	30/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	43	0.0233	17	c.167 others(36): Show c.1678+4699_1678+4700insCTTTCTTTCTTTCTTTC	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123765585	T T	TATCTATC others(10): Show TATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18906.hp1 NA19240.hp2 HG01099.hp1 NA18906.hp1 NA19240.hp2	a0001 a0008 a0022 a0001 a0008 a0022	a0001c0058 a0008c0009 a0022c0018 a0001c0058 a0008c0009 a0022c0018	a0001c0058t0001 a0008c0009t0002 a0022c0018t0002 a0001c0058t0001 a0008c0009t0002 a0022c0018t0002	a0001c0058t0001g0033 a0008c0009t0002g0032 a0022c0018t0002g0034 a0001c0058t0001g0033 a0008c0009t0002g0032 a0022c0018t0002g0034	3	158	0.0190	17	c.215 others(34): Show c.215-2007_215-2006insCTAATCTATCTATCTAT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	1/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912049	G G	GGGGGGGG others(10): Show GGGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0086 a0002c0011t0001g0086	1	168	0.0060	17	c.101 others(38): Show c.10135-1043_10135-1042insGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21612554	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02809.hp2 HG04115.hp2 others(2): Show HG02132.hp1 HG02809.hp2 HG04115.hp2 NA18945.hp1 NA19091.hp1	a0039 a0101 a0130 others(2): Show a0039 a0101 a0130 a0172 a0182	a0039c0253 a0101c0176 a0130c0135 others(2): Show a0039c0253 a0101c0176 a0130c0135 a0172c0255 a0182c0180	a0039c0253t0003 a0101c0176t0002 a0130c0135t0003 others(2): Show a0039c0253t0003 a0101c0176t0002 a0130c0135t0003 a0172c0255t0002 a0182c0180t0006	a0039c0253t0003g0179 a0101c0176t0002g0124 a0130c0135t0003g0008 others(2): Show a0039c0253t0003g0179 a0101c0176t0002g0124 a0130c0135t0003g0008 a0172c0255t0002g0160 a0182c0180t0006g0122	5	108	0.0463	17	c.385 others(36): Show c.3853-2554_3853-2538dupAAAAAAAAAAAAAAAAA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	20/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG02683.hp1 others(4): Show HG01106.hp2 HG01496.hp1 HG02683.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2	a0012 a0025 a0063 others(4): Show a0012 a0025 a0063 a0126 a0147 a0154 a0159	a0012c0167 a0025c0005 a0063c0039 others(4): Show a0012c0167 a0025c0005 a0063c0039 a0126c0232 a0147c0066 a0154c0250 a0159c0158	a0012c0167t0004 a0025c0005t0001 a0063c0039t0001 others(4): Show a0012c0167t0004 a0025c0005t0001 a0063c0039t0001 a0126c0232t0003 a0147c0066t0003 a0154c0250t0002 a0159c0158t0001	a0012c0167t0004g0049 a0025c0005t0001g0284 a0063c0039t0001g0263 others(4): Show a0012c0167t0004g0049 a0025c0005t0001g0284 a0063c0039t0001g0263 a0126c0232t0003g0208 a0147c0066t0003g0088 a0154c0250t0002g0133 a0159c0158t0001g0012	7	53	0.1321	17	c.100 others(36): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21872123	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0011 a0011	a0011c0199 a0011c0199	a0011c0199t0003 a0011c0199t0003	a0011c0199t0003g0141 a0011c0199t0003g0141	1	102	0.0098	17	c.119 others(38): Show c.11968-1141_11968-1125dupAAAAAAAAAAAAAAAAA	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	73/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57333329	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0051 a0051	a0051c0039 a0051c0039	a0051c0039t0001 a0051c0039t0001	a0051c0039t0001g0062 a0051c0039t0001g0062	1	147	0.0068	17	c.997 others(36): Show c.9978+1119_9978+1135dupAAAAAAAAAAAAAAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	62/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57371941	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG02615.hp1 others(1): Show HG01261.hp2 HG01934.hp1 HG02615.hp1 HG02886.hp2	a0006 a0015 a0006 a0015	a0006c0006 a0015c0012 a0006c0006 a0015c0012	a0006c0006t0001 a0015c0012t0001 a0006c0006t0001 a0015c0012t0001	a0006c0006t0001g0028 a0015c0012t0001g0108 a0015c0012t0001g0109 others(1): Show a0006c0006t0001g0028 a0015c0012t0001g0108 a0015c0012t0001g0109 a0015c0012t0001g0110	4	68	0.0588	17	c.875 others(36): Show c.8759+3413_8759+3429dupTTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	55/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0047 a0047	a0047c0045 a0047c0045	a0047c0045t0002 a0047c0045t0002	a0047c0045t0002g0012 a0047c0045t0002g0012	1	82	0.0122	17	c.730 others(36): Show c.7305+1447_7305+1448insATATATTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57421902	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02615.hp1 HG02886.hp2 others(1): Show HG01934.hp1 HG02615.hp1 HG02886.hp2 NA19240.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0015c0012 a0003c0003 a0015c0012	a0003c0003t0001 a0015c0012t0001 a0003c0003t0001 a0015c0012t0001	a0003c0003t0001g0019 a0015c0012t0001g0108 a0015c0012t0001g0109 others(1): Show a0003c0003t0001g0019 a0015c0012t0001g0108 a0015c0012t0001g0109 a0015c0012t0001g0110	4	162	0.0247	17	c.537 others(34): Show c.5374-213_5374-197dupAAAAAAAAAAAAAAAAA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	35/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57427138	A A	ATGTGATG others(10): Show ATGTGATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0040 a0040	a0040c0031 a0040c0031	a0040c0031t0002 a0040c0031t0002	a0040c0031t0002g0085 a0040c0031t0002g0085	1	85	0.0118	17	c.525 others(36): Show c.5253+1494_5253+1495insCACACACACACATCACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	34/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57438918	C C	CGAAAAAA others(10): Show CGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG00741.hp1 others(22): Show HG00621.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01978.hp1 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02965.hp1 HG03490.hp2 HG03831.hp2 HG03834.hp2 HG04204.hp1 NA18962.hp2 NA19000.hp1 NA19001.hp2 NA20905.hp1	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0012 a0066 a0071	a0001c0001 a0001c0026 a0001c0085 others(5): Show a0001c0001 a0001c0026 a0001c0085 a0005c0005 a0007c0007 a0012c0024 a0066c0089 a0071c0072	a0001c0001t0001 a0001c0026t0001 a0001c0085t0001 others(5): Show a0001c0001t0001 a0001c0026t0001 a0001c0085t0001 a0005c0005t0001 a0007c0007t0001 a0012c0024t0001 a0066c0089t0001 a0071c0072t0001	a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 others(22): Show a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0026t0001g0175 a0001c0085t0001g0250 a0005c0005t0001g0221 a0005c0005t0001g0224 a0007c0007t0001g0141 a0007c0007t0001g0247 a0012c0024t0001g0220 a0066c0089t0001g0182 a0071c0072t0001g0208	25	75	0.3333	17	c.454 others(36): Show c.4546-1859_4546-1858insTTTTTTTTTTTTTTTTC	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	29/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499630	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02602.hp1 NA18982.hp1 others(1): Show HG01243.hp2 HG02602.hp1 NA18982.hp1 NA19005.hp2	a0001 a0004 a0035 a0001 a0004 a0035	a0001c0001 a0004c0004 a0035c0038 a0001c0001 a0004c0004 a0035c0038	a0001c0001t0001 a0004c0004t0001 a0035c0038t0001 a0001c0001t0001 a0004c0004t0001 a0035c0038t0001	a0001c0001t0001g0218 a0004c0004t0001g0074 a0004c0004t0001g0094 others(1): Show a0001c0001t0001g0218 a0004c0004t0001g0074 a0004c0004t0001g0094 a0035c0038t0001g0042	4	239	0.0167	17	c.133 others(36): Show c.1335+1674_1335+1690dupTTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar

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