Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LIPH_chr3_185501262_185557588	185544336	G G	GTTGTTTT others(13): Show GTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp1 others(33): Show HG00423.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01109.hp1 HG01981.hp1 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02273.hp1 HG02602.hp2 HG02698.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18953.hp2 NA18956.hp2 NA18962.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18989.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0034 a0001c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0012 others(32): Show a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0268 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0030 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0051 a0001c0001t0005g0025 a0001c0001t0005g0032 a0001c0001t0005g0046 a0001c0001t0008g0041 a0001c0001t0010g0023 a0001c0001t0011g0026 a0001c0001t0012g0050 a0001c0001t0022g0090 a0001c0001t0034g0011 a0001c0002t0001g0089	36	358	0.1006	20	c.49+ others(35): Show c.49+8086_49+8087insAACAAAACAAAACAAAACAA	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9			chr3	TogoVar
LIPI_chr21_14103813_14215955	14146772	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0113 a0004c0003t0001g0113	1	362	0.0028	20	c.111 others(39): Show c.1119-1993_1119-1974dupAAAAAAAAAAAAAAAAAAAA	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	8/9			chr21	TogoVar
LIPK_chr10_88701249_88757776	88704068	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG02055.hp2 others(4): Show HG01243.hp1 HG01433.hp2 HG02055.hp2 HG02559.hp1 HG02886.hp1 HG02895.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0165 a0001c0003t0001g0033 a0003c0004t0001g0004 others(2): Show a0001c0001t0001g0165 a0001c0003t0001g0033 a0003c0004t0001g0004 a0003c0004t0001g0045 a0003c0004t0001g0180	7	350	0.0200	20	c.-22 others(31): Show c.-2264_-2263insAAAAAAAAAAAAAAAAAAAA	LIPK	ENSG00000204021.5	transcript	ENST00000404190.3	protein_coding		2180		chr10	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 NA18975.hp2 others(1): Show HG01891.hp2 HG02572.hp2 NA18975.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0225 a0001c0002t0001g0128 a0001c0001t0001g0059 a0001c0001t0001g0225 a0001c0002t0001g0128	4	462	0.0087	20	c.265 others(35): Show c.265+536_265+555dupATTTTATTTTATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(49): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01346.hp1 HG01346.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02071.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02895.hp1 HG04184.hp2 HG04228.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19088.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 a0001c0001t0001 a0001c0002t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0161 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0002t0001g0001 a0001c0002t0001g0014 a0001c0002t0001g0071 a0001c0002t0001g0119 a0001c0002t0001g0125 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0159 a0001c0002t0001g0192 a0001c0002t0001g0195 a0004c0006t0001g0019	52	462	0.1126	20	c.20 others(31): Show c.2043_*2044insTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LIPM_chr10_88797730_88825546	88823827	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03225.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0181 a0001c0001t0001g0024 a0001c0001t0001g0070 a0001c0001t0001g0181	3	462	0.0065	20	c.33 others(31): Show c.3326_*3327insAAAAAAAAAAAAAAAAAAAA	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		3282		chr10	TogoVar
LIPT1_chr2_99149967_99168137	99166858	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03654.hp1 NA19070.hp2 HG02738.hp1 HG03654.hp1 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0001 a0004c0007t0001 a0001c0002t0001 a0004c0007t0001	a0001c0002t0001g0067 a0001c0002t0001g0088 a0004c0007t0001g0004 a0001c0002t0001g0067 a0001c0002t0001g0088 a0004c0007t0001g0004	3	406	0.0074	20	c.37 others(31): Show c.3779_*3780insATATATATATATATATATAT	LIPT1	ENSG00000144182.17	transcript	ENST00000651691.1	protein_coding		3722		chr2	TogoVar
LITAF_chr16_11542722_11591919	11579459	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	412	0.0024	20	c.-6+ others(35): Show c.-6+7407_-6+7426dupATTTTATTTTATTTTATTTT	LITAF	ENSG00000189067.14	transcript	ENST00000622633.5	protein_coding	1/3			chr16	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088600	T T	TAGGATCT others(13): Show TAGGATCTGTGCAGAGTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02895.hp2 HG01167.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	102	0.0196	20	c.-44 others(31): Show c.-4401_-4382dupGGCCACTCTGCACAGATCCT	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4203		chr20	TogoVar
LLGL2_chr17_75520697_75580209	75558846	A A	ACCTCCTC others(13): Show ACCTCCTCCATCCGCACCCCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02895.hp2 HG01069.hp1 HG02895.hp2	a0002 a0015 a0002 a0015	a0002c0004 a0015c0017 a0002c0004 a0015c0017	a0002c0004t0003 a0015c0017t0003 a0002c0004t0003 a0015c0017t0003	a0002c0004t0003g0017 a0015c0017t0003g0026 a0002c0004t0003g0017 a0015c0017t0003g0026	2	382	0.0052	20	c.371 others(35): Show c.371+239_371+258dupGCCTCCTCCATCCGCACCCC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75558978	C C	CGCACCCC others(13): Show CGCACCCCGCCTCCTCCATCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01255.hp2 others(9): Show HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG02257.hp1 HG03654.hp1 HG03831.hp2 NA18970.hp2 NA19012.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0002 others(1): Show a0002c0003 a0002c0004 a0003c0002 a0003c0021	a0002c0003t0003 a0002c0004t0003 a0003c0002t0002 others(1): Show a0002c0003t0003 a0002c0004t0003 a0003c0002t0002 a0003c0021t0002	a0002c0003t0003g0244 a0002c0003t0003g0276 a0002c0004t0003g0195 others(9): Show a0002c0003t0003g0244 a0002c0003t0003g0276 a0002c0004t0003g0195 a0002c0004t0003g0282 a0002c0004t0003g0283 a0002c0004t0003g0344 a0002c0004t0003g0345 a0002c0004t0003g0349 a0002c0004t0003g0353 a0003c0002t0002g0330 a0003c0002t0002g0332 a0003c0021t0002g0331	12	382	0.0314	20	c.372 others(35): Show c.372-255_372-254insGGCACCCCGCCTCCTCCATC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75558978	C C	CGCACTCC others(13): Show CGCACTCCGCCTCCTCCATCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00642.hp2 others(60): Show HG00099.hp2 HG00408.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18906.hp2 NA18971.hp1 NA18987.hp1 NA18989.hp2 NA18995.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19074.hp1 NA19080.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0015 a0033	a0002c0003 a0002c0004 a0002c0012 others(5): Show a0002c0003 a0002c0004 a0002c0012 a0002c0045 a0010c0014 a0011c0027 a0015c0017 a0033c0038	a0002c0003t0003 a0002c0003t0005 a0002c0004t0003 others(6): Show a0002c0003t0003 a0002c0003t0005 a0002c0004t0003 a0002c0012t0003 a0002c0045t0003 a0010c0014t0003 a0011c0027t0005 a0015c0017t0003 a0033c0038t0003	a0002c0003t0003g0220 a0002c0003t0003g0226 a0002c0003t0003g0240 others(57): Show a0002c0003t0003g0220 a0002c0003t0003g0226 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0246 a0002c0003t0003g0247 a0002c0003t0003g0248 a0002c0003t0003g0249 a0002c0003t0003g0250 a0002c0003t0003g0256 a0002c0003t0003g0259 a0002c0003t0003g0270 a0002c0003t0003g0320 a0002c0003t0003g0321 a0002c0003t0003g0328 a0002c0003t0005g0005 a0002c0003t0005g0054 a0002c0003t0005g0103 a0002c0003t0005g0104 a0002c0003t0005g0105 a0002c0003t0005g0108 a0002c0003t0005g0113 a0002c0003t0005g0114 a0002c0003t0005g0118 a0002c0003t0005g0124 a0002c0003t0005g0125 a0002c0003t0005g0126 a0002c0003t0005g0127 a0002c0003t0005g0128 a0002c0003t0005g0129 a0002c0003t0005g0130 a0002c0003t0005g0131 a0002c0003t0005g0132 a0002c0003t0005g0133 a0002c0004t0003g0013 a0002c0004t0003g0014 a0002c0004t0003g0067 a0002c0004t0003g0333 a0002c0004t0003g0335 a0002c0004t0003g0336 a0002c0004t0003g0337 a0002c0004t0003g0339 a0002c0004t0003g0340 a0002c0004t0003g0341 a0002c0004t0003g0346 a0002c0004t0003g0347 a0002c0004t0003g0348 a0002c0004t0003g0350 a0002c0004t0003g0351 a0002c0004t0003g0352 a0002c0012t0003g0311 a0002c0012t0003g0323 a0002c0012t0003g0324 a0002c0045t0003g0310 a0010c0014t0003g0015 a0010c0014t0003g0338 a0011c0027t0005g0175 a0015c0017t0003g0016 a0033c0038t0003g0278	63	382	0.1649	20	c.372 others(35): Show c.372-270_372-269insTCCGCCTCCTCCATCGGCAC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LMAN2_chr5_177326567_177356668	177326869	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	376	0.0027	20	c.52 others(31): Show c.5216_*5217insTTCTTTCTCTTTCTTTCTTT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding		4697		chr5	TogoVar
LMBR1_chr7_156672791_156898183	156800482	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	314	0.0032	20	c.320 others(37): Show c.320-3991_320-3990insTTTTTTTTTTTTTTTTTTTT	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	4/16			chr7	TogoVar
LMBRD1_chr6_69669010_69802010	69774948	T T	TGGAAGGA others(13): Show TGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp1 others(5): Show HG00099.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0007 a0001c0001t0003 a0002c0002t0002 a0002c0002t0007	a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0176 others(4): Show a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0002c0002t0002g0225 a0002c0002t0007g0008 a0002c0002t0007g0226	8	348	0.0230	20	c.307 others(37): Show c.307+5526_307+5545dupTTCCTTCCTTCCTTCCTTCC	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774987	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01993.hp1 HG01243.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0200 a0001c0001t0003g0173 a0001c0001t0003g0200	2	348	0.0058	20	c.307 others(37): Show c.307+5506_307+5507insCCCTTCCTTCCTTCCTTCCT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774987	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03139.hp1 HG03927.hp1 others(2): Show HG00733.hp1 HG03139.hp1 HG03927.hp1 NA18940.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0069 a0001c0001t0003g0171 others(2): Show a0001c0001t0001g0167 a0001c0001t0003g0069 a0001c0001t0003g0171 a0001c0001t0003g0195 a0001c0001t0003g0203	5	348	0.0144	20	c.307 others(37): Show c.307+5506_307+5507insCCCTCCCTTCCTTCCTTCCT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774987	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	348	0.0029	20	c.307 others(37): Show c.307+5506_307+5507insCCCTCCCTCCCTTCCTTCCT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69775033	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02071.hp2 HG04204.hp2 HG01517.hp2 HG02071.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0012g0074 a0001c0001t0001g0073 a0001c0001t0001g0103 a0001c0001t0012g0074	3	348	0.0086	20	c.307 others(37): Show c.307+5460_307+5461insTTCCCTCCCTCCCTCCCTCC	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMF1_chr16_848634_975984	858660	G G	GCAGTGGT others(13): Show GCAGTGGTGTCTCGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0009 a0010c0056t0009	a0010c0056t0009g0136 a0010c0056t0009g0136	1	294	0.0034	20	c.153 others(39): Show c.1530-3955_1530-3954insGCACACCCGAGACACCACTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859347	T T	TCTCGGGA others(13): Show TCTCGGGACGGGTGTGCAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0155 a0001c0011t0001g0155	1	294	0.0034	20	c.153 others(39): Show c.1530-4642_1530-4641insCACTGCACACCCGTCCCGAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01952.hp1 others(14): Show HG01243.hp2 HG01433.hp2 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02976.hp1 HG03516.hp1 HG03942.hp2 NA18968.hp1 NA18968.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19054.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0003t0001g0159	17	286	0.0594	20	c.23 others(31): Show c.2396_*2397insACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding		2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01952.hp1 others(14): Show HG01243.hp2 HG01433.hp2 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02976.hp1 HG03516.hp1 HG03942.hp2 NA18968.hp2 NA18989.hp2 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19054.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0003t0001g0156	17	286	0.0594	20	c.10 others(31): Show c.1054_*1055insACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding		80		chr1	TogoVar
LMNB1_chr5_126772136_126842020	126787546	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	374	0.0027	20	c.359 others(37): Show c.359+9680_359+9681insATATATATATATATATTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126787546	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01993.hp1 HG03225.hp1 HG01884.hp1 HG01993.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0186 a0001c0001t0003g0041 a0001c0001t0003g0047 a0001c0001t0001g0186 a0001c0001t0003g0041 a0001c0001t0003g0047	3	374	0.0080	20	c.359 others(37): Show c.359+9680_359+9681insATATATTTTTTTTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB1_chr5_126772136_126842020	126798780	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	374	0.0027	20	c.360 others(37): Show c.360-5991_360-5990insTGTGTGTGTGTGTGCGTGTG	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
LMNB2_chr19_2423166_2461959	2436381	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02698.hp2 HG02723.hp1 others(5): Show HG00673.hp2 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02897.hp2 HG03041.hp2 HG03486.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015	a0001c0001t0002g0094 a0001c0001t0002g0282 a0001c0001t0002g0283 others(5): Show a0001c0001t0002g0094 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0012g0083 a0001c0001t0013g0091 a0001c0001t0013g0092 a0001c0001t0015g0061	8	356	0.0225	20	c.685 others(37): Show c.685-1230_685-1211dupGTTTTGTTTTGTTTTGTTTT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	4/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2436667	G G	GCCTCCAC others(13): Show GCCTCCACGGCCGCGCACCCA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19000.hp2 NA19002.hp2 others(1): Show NA18990.hp2 NA19000.hp2 NA19002.hp2 NA19066.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0031 a0002c0003t0002g0006 a0002c0003t0002g0031	4	356	0.0112	20	c.684 others(37): Show c.684+1495_684+1496insTGGGTGCGCGGCCGTGGAGG	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	4/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2450119	C C	CATATACA others(13): Show CATATACATATACATATACAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	356	0.0028	20	c.265 others(37): Show c.265-5580_265-5579insATGTATATGTATATGTATAT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11			chr19	TogoVar
LMNB2_chr19_2423166_2461959	2450119	C C	CATATACA others(13): Show CATATACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19088.hp2 NA20300.hp1 HG00621.hp2 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0093 a0001c0001t0002g0280 a0001c0001t0008g0056 a0001c0001t0002g0093 a0001c0001t0002g0280 a0001c0001t0008g0056	3	356	0.0084	20	c.265 others(37): Show c.265-5580_265-5579insATGTATATATATATGTATAT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11			chr19	TogoVar
LMNTD1_chr12_25471082_25558283	25519586	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01934.hp2 others(3): Show HG01256.hp2 HG01258.hp1 HG01934.hp2 HG02735.hp1 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0245 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0317 a0001c0001t0002g0132	6	388	0.0155	20	c.101 others(37): Show c.1016+271_1016+272insTTTTTTTTTTTTTTTTTTTT	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	7/9			chr12	TogoVar
LMNTD1_chr12_25471082_25558283	25520145	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	388	0.0026	20	c.799 others(33): Show c.799-90_799-71dupATATATATATATATATATAT	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	6/9			chr12	TogoVar
LMNTD2_chr11_549850_565738	555157	G G	GGGAGGGG others(13): Show GGGAGGGGAGGGGAGCGGCGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(155): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0011 a0013 a0015 a0016	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0002c0024 a0003c0005 a0003c0006 a0011c0027 a0013c0021 a0015c0020 a0016c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0002c0014t0001 a0002c0024t0001 a0003c0005t0001 a0003c0006t0001 a0011c0027t0001 a0013c0021t0002 a0015c0020t0001 a0016c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0048 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0002g0041 a0001c0001t0002g0072 a0001c0001t0004g0087 a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0064 a0001c0002t0001g0065 a0002c0003t0001g0006 a0002c0003t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0046 a0002c0003t0001g0084 a0002c0014t0001g0027 a0002c0024t0001g0094 a0003c0005t0001g0047 a0003c0006t0001g0025 a0011c0027t0001g0063 a0013c0021t0002g0056 a0015c0020t0001g0075 a0016c0023t0001g0077	158	387	0.4083	20	c.177 others(35): Show c.1774-47_1774-46insTCGCCGCTCCCCTCCCCTCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMNTD2_chr11_549850_565738	555170	A A	AGGGGAGG others(13): Show AGGGGAGGAGAAGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	387	0.0026	20	c.177 others(35): Show c.1774-60_1774-59insGCCCCTCCCTTCTCCTCCCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMNTD2_chr11_549850_565738	555170	A A	AGGGGAGG others(13): Show AGGGGAGGAGAGCGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA21309.hp2 HG02886.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0037 a0002c0004t0002g0037	2	387	0.0052	20	c.177 others(35): Show c.1774-60_1774-59insGCCCCTCCGCTCTCCTCCCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMNTD2_chr11_549850_565738	555182	G G	GGGAGGGG others(13): Show GGGAGGGGCGGGGAGGAGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0017	a0001c0001 a0001c0002 a0001c0018 others(15): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003 a0002c0004 a0002c0008 a0002c0012 a0003c0005 a0003c0006 a0004c0007 a0006c0011 a0007c0015 a0008c0013 a0009c0016 a0010c0017 a0012c0026 a0014c0019 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0018t0001 a0002c0003t0001 a0002c0004t0002 a0002c0008t0001 a0002c0008t0002 a0002c0012t0002 a0003c0005t0001 a0003c0005t0002 a0003c0006t0001 a0004c0007t0001 a0004c0007t0002 a0006c0011t0001 a0007c0015t0003 a0008c0013t0001 a0009c0016t0001 a0010c0017t0001 a0012c0026t0002 a0014c0019t0001 a0017c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0002g0053 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0044 a0001c0002t0001g0062 a0001c0002t0001g0067 a0001c0002t0001g0090 a0001c0002t0002g0091 a0001c0018t0001g0069 a0002c0003t0001g0020 a0002c0004t0002g0007 a0002c0004t0002g0096 a0002c0004t0002g0097 a0002c0008t0001g0029 a0002c0008t0001g0083 a0002c0008t0002g0032 a0002c0012t0002g0022 a0003c0005t0001g0009 a0003c0005t0001g0026 a0003c0005t0001g0081 a0003c0005t0002g0045 a0003c0005t0002g0080 a0003c0006t0001g0018 a0004c0007t0001g0013 a0004c0007t0002g0093 a0006c0011t0001g0017 a0007c0015t0003g0023 a0008c0013t0001g0024 a0009c0016t0001g0033 a0010c0017t0001g0038 a0012c0026t0002g0095 a0014c0019t0001g0070 a0017c0022t0001g0089	196	387	0.5065	20	c.177 others(35): Show c.1774-91_1774-72dupGCTCTCCTCCCCGCCCCTCC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMNTD2_chr11_549850_565738	555189	G G	GAGGCTAT others(13): Show GAGGCTATACGTATATCTATT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	387	0.0026	20	c.177 others(35): Show c.1774-79_1774-78insAATAGATATACGTATAGCCT	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMNTD2_chr11_549850_565738	555208	G G	GGCGGGGA others(13): Show GGCGGGGAGGAGAGCGGAGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19009.hp2 NA19010.hp1 HG00544.hp1 NA19009.hp2 NA19010.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0028 a0002c0004t0002g0028	3	387	0.0078	20	c.177 others(35): Show c.1773+96_1773+97insTCCTCCGCTCTCCTCCCCGC	LMNTD2	ENSG00000185522.9	transcript	ENST00000329451.8	protein_coding	13/13			chr11	TogoVar
LMO2_chr11_33853576_33897076	33891346	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	442	0.0023	20	c.-33 others(37): Show c.-336+429_-336+448dupGTGTGTGTGTGTGTGTGTGT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	1/5			chr11	TogoVar
LMO3_chr12_16543372_16611162	16582237	C C	CTATGGTG others(13): Show CTATGGTGTTTCTTCCTCCAG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	354	0.0028	20	c.206 others(39): Show c.206+18398_206+18417dupCTGGAGGAAGAAACACCATA	LMO3	ENSG00000048540.16	transcript	ENST00000537304.6	protein_coding	2/3			chr12	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03491.hp1 HG03669.hp1 others(1): Show HG01884.hp1 HG03491.hp1 HG03669.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0003 a0004c0027 others(1): Show a0001c0001 a0002c0003 a0004c0027 a0008c0008	a0001c0001t0002 a0002c0003t0001 a0004c0027t0002 others(1): Show a0001c0001t0002 a0002c0003t0001 a0004c0027t0002 a0008c0008t0003	a0001c0001t0002g0101 a0002c0003t0001g0238 a0004c0027t0002g0092 others(1): Show a0001c0001t0002g0101 a0002c0003t0001g0238 a0004c0027t0002g0092 a0008c0008t0003g0169	4	272	0.0147	20	c.-37 others(31): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding		3467		chr13	TogoVar
LMO7_chr13_75631330_75864866	75663408	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01243.hp2 others(5): Show HG00609.hp2 HG01192.hp1 HG01243.hp2 HG02056.hp1 HG02273.hp2 NA18965.hp1 NA18987.hp1 NA19011.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0002 a0016c0024 a0001c0001 a0003c0002 a0016c0024	a0001c0001t0002 a0001c0001t0008 a0003c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0008 a0003c0002t0002 a0016c0024t0002	a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0043 others(5): Show a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0008g0044 a0003c0002t0002g0064 a0016c0024t0002g0086	8	272	0.0294	20	c.69+ others(37): Show c.69+26690_69+26709dupCTTTCTTTCTTTCTTTCTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75681718	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0193 a0003c0002t0001g0193	1	272	0.0037	20	c.70- others(37): Show c.70-31459_70-31458insGTATATATATATATATATAT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMO7_chr13_75631330_75864866	75776162	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18953.hp1 NA18990.hp1 others(3): Show HG02135.hp1 NA18953.hp1 NA18990.hp1 NA18998.hp1 NA19056.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0109 a0003c0002t0001g0194 a0003c0002t0001g0198 others(3): Show a0001c0001t0001g0109 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0209 a0003c0002t0001g0230 a0003c0002t0001g0243	6	272	0.0221	20	c.317 others(39): Show c.317+15148_317+15167dupTATATATATATATATATATA	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01106.hp1 others(12): Show HG00621.hp1 HG01074.hp1 HG01106.hp1 HG01256.hp2 HG01496.hp1 HG01517.hp2 HG02074.hp1 HG02080.hp2 HG02523.hp1 HG04204.hp2 NA18992.hp2 NA18995.hp2 NA19063.hp2 NA19077.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0002 a0001c0001t0001 a0001c0001t0010 a0002c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0351 a0001c0001t0001g0359 a0001c0001t0010g0066 a0002c0002t0002g0002 a0002c0002t0002g0032 a0002c0002t0002g0043	15	400	0.0375	20	c.-84 others(29): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTC	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp2 others(27): Show HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG02083.hp2 HG02148.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp1 HG03669.hp1 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp2 NA18968.hp1 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp1 NA19010.hp2 NA19055.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0027 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0225 a0001c0001t0001g0273 a0001c0001t0001g0349 a0001c0001t0003g0378 a0001c0001t0004g0366 a0001c0001t0005g0084 a0001c0001t0005g0103 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0192	30	400	0.0750	20	c.-20 others(31): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1795		chr1	TogoVar
LMX1A_chr1_165196867_165361715	165227544	A A	AATACATA others(13): Show AATACATATGTACATACATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG03139.hp1 HG02647.hp2 HG02895.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0027 a0001c0001t0004 a0001c0001t0005 a0001c0001t0027	a0001c0001t0004g0027 a0001c0001t0005g0168 a0001c0001t0027g0017 a0001c0001t0004g0027 a0001c0001t0005g0168 a0001c0001t0027g0017	3	288	0.0104	20	c.497 others(39): Show c.497-13732_497-13731insGTATGTATGTACATATGTAT	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	4/8			chr1	TogoVar
LMX1A_chr1_165196867_165361715	165247054	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	288	0.0035	20	c.496 others(37): Show c.496+2334_496+2353dupAAAAAAAAAAAAAAAAAAAA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	4/8			chr1	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02970.hp2 others(7): Show HG02257.hp2 HG02280.hp1 HG02970.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18943.hp1 NA18949.hp2 NA18952.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0008t0001	a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0197 others(7): Show a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0003g0185 a0001c0001t0005g0215 a0001c0001t0011g0216 a0001c0002t0002g0227 a0001c0002t0007g0110 a0001c0003t0001g0055 a0001c0008t0001g0186	10	288	0.0347	20	c.263 others(39): Show c.263+15187_263+15188insCACACACACACACACACACA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LNP1_chr3_100396539_100461319	100450249	A A	AAAAAACA others(13): Show AAAAAACAGTTAAACGATGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp2 others(4): Show HG02559.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0295 a0001c0001t0005g0296 others(4): Show a0001c0001t0005g0074 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300	7	398	0.0176	20	c.157 others(37): Show c.157-1468_157-1449dupAAAACAGTTAAACGATGGCA	LNP1	ENSG00000206535.8	transcript	ENST00000383693.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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