Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
KTN1_chr14_55575207_55689579	55657397	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01081.hp1 others(9): Show HG00099.hp2 HG01074.hp2 HG01081.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01934.hp2 HG01943.hp2 HG02258.hp1 HG02300.hp1 HG03540.hp2 NA18993.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0011c0015 a0001c0002 a0011c0015	a0001c0002t0003 a0011c0015t0001 a0001c0002t0003 a0011c0015t0001	a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 others(9): Show a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0300 a0011c0015t0001g0085	12	314	0.0382	7	c.289 others(26): Show c.2893-1141_2893-1135dupTTTTTTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
KYAT1_chr9_128827942_128886950	128858395	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp2 others(120): Show HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19066.hp2 NA19068.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0002 a0004c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 others(119): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0195 a0001c0001t0001g0261 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0293 a0001c0001t0003g0003 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0312 a0001c0001t0003g0315 a0001c0001t0003g0319 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0006t0002g0227 a0004c0005t0001g0142	123	326	0.3773	7	c.-6- others(24): Show c.-6-12991_-6-12985dupTTTTTTT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
KYAT1_chr9_128827942_128886950	128858395	T T	TTAAAAAA TTAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02735.hp2 NA18942.hp1 others(4): Show HG01257.hp1 HG02735.hp2 NA18942.hp1 NA18959.hp2 NA18982.hp1 NA18989.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0126 a0001c0001t0001g0267 a0001c0001t0001g0284	7	326	0.0215	7	c.-6- others(24): Show c.-6-12985_-6-12984insTTTTTTA	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
L1CAM_chrX_153856516_153891173	153859495	G G	GGAAGGAA GGAAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02615.hp1 others(3): Show HG02109.hp1 HG02258.hp1 HG02615.hp1 HG02723.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0168 a0001c0001t0001g0170	6	283	0.0212	7	c.31 others(18): Show c.3167_*3168insTTCCTTC	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		2020		chrX	TogoVar
L1CAM_chrX_153856516_153891173	153860467	T T	TTTCTTTC TTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA19077.hp1 NA18970.hp1 NA19077.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0008c0015t0001 a0001c0001t0001 a0008c0015t0001	a0001c0001t0001g0065 a0008c0015t0001g0117 a0001c0001t0001g0065 a0008c0015t0001g0117	2	283	0.0071	7	c.21 others(18): Show c.2195_*2196insGAAAGAA	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		1048		chrX	TogoVar
L1TD1_chr1_62189849_62217328	62192650	G G	GTTTTTTT GTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG01515.hp2 others(4): Show HG00323.hp1 HG01109.hp1 HG01515.hp2 HG03490.hp1 HG04115.hp2 HG04204.hp1 NA21309.hp1	a0005 a0010 a0017 a0005 a0010 a0017	a0005c0014 a0010c0011 a0017c0021 a0005c0014 a0010c0011 a0017c0021	a0005c0014t0001 a0010c0011t0011 a0010c0011t0026 others(1): Show a0005c0014t0001 a0010c0011t0011 a0010c0011t0026 a0017c0021t0011	a0005c0014t0001g0038 a0010c0011t0011g0006 a0010c0011t0011g0354 others(4): Show a0005c0014t0001g0038 a0010c0011t0011g0006 a0010c0011t0011g0354 a0010c0011t0011g0355 a0010c0011t0011g0356 a0010c0011t0026g0006 a0017c0021t0011g0357	7	414	0.0169	7	c.-24 others(18): Show c.-2476_-2475insTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2198		chr1	TogoVar
L1TD1_chr1_62189849_62217328	62208481	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02280.hp2 others(4): Show HG01891.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02976.hp2 HG03209.hp1	a0004 a0008 a0004 a0008	a0004c0015 a0008c0009 a0004c0015 a0008c0009	a0004c0015t0031 a0008c0009t0010 a0008c0009t0024 a0004c0015t0031 a0008c0009t0010 a0008c0009t0024	a0004c0015t0031g0049 a0008c0009t0010g0100 a0008c0009t0010g0103 others(4): Show a0004c0015t0031g0049 a0008c0009t0010g0100 a0008c0009t0010g0103 a0008c0009t0010g0104 a0008c0009t0010g0105 a0008c0009t0010g0106 a0008c0009t0024g0101	7	414	0.0169	7	c.100 others(24): Show c.1008+855_1008+861dupTTTTTTT	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L2HGDH_chr14_50237434_50317229	50241406	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00544.hp2 others(64): Show HG00140.hp1 HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02976.hp2 HG03017.hp1 HG03490.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(19): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0008t0008 a0002c0003t0003 a0002c0003t0052 a0002c0003t0055	a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0017 others(63): Show a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0017 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0006g0008 a0001c0001t0006g0050 a0001c0001t0006g0077 a0001c0001t0006g0080 a0001c0001t0006g0088 a0001c0001t0006g0101 a0001c0001t0006g0134 a0001c0001t0008g0020 a0001c0001t0008g0064 a0001c0001t0008g0070 a0001c0001t0008g0078 a0001c0001t0008g0097 a0001c0001t0008g0104 a0001c0001t0012g0162 a0001c0001t0021g0054 a0001c0001t0021g0081 a0001c0001t0021g0098 a0001c0001t0022g0029 a0001c0001t0022g0035 a0001c0001t0022g0046 a0001c0001t0029g0075 a0001c0001t0033g0026 a0001c0001t0033g0156 a0001c0001t0034g0065 a0001c0001t0034g0069 a0001c0001t0035g0063 a0001c0001t0035g0115 a0001c0001t0036g0061 a0001c0001t0036g0084 a0001c0001t0044g0183 a0001c0001t0046g0012 a0001c0001t0049g0099 a0001c0001t0053g0102 a0001c0001t0054g0043 a0001c0001t0056g0016 a0001c0001t0057g0066 a0001c0008t0008g0071 a0002c0003t0003g0354 a0002c0003t0052g0348 a0002c0003t0055g0349	67	360	0.1861	7	c.56 others(18): Show c.5645_*5651dupTTTTTTT	L2HGDH	ENSG00000087299.12	transcript	ENST00000267436.9	protein_coding		1027		chr14	TogoVar
L3MBTL4_chr18_5949717_6419911	6004997	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp2 HG01099.hp1 others(7): Show HG00673.hp1 HG01081.hp2 HG01099.hp1 HG01978.hp1 HG01981.hp1 HG02486.hp1 HG03195.hp2 HG03209.hp1 HG04115.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0003t0002 a0002c0002t0001	a0001c0001t0002g0026 a0001c0001t0003g0011 a0001c0001t0004g0007 others(7): Show a0001c0001t0002g0026 a0001c0001t0003g0011 a0001c0001t0004g0007 a0001c0001t0004g0060 a0001c0001t0005g0046 a0001c0001t0008g0005 a0001c0001t0008g0070 a0001c0003t0002g0058 a0002c0002t0001g0025 a0002c0002t0001g0068	10	94	0.1064	7	c.144 others(28): Show c.1445-35442_1445-35436dupAAAAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6072865	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02622.hp1 HG02809.hp2 others(5): Show HG01952.hp2 HG02622.hp1 HG02809.hp2 HG03486.hp2 HG04115.hp2 NA18522.hp1 NA19009.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0004t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0072 a0001c0001t0003g0010 a0001c0004t0006g0087 a0002c0002t0001g0084 a0002c0002t0001g0091	8	94	0.0851	7	c.144 others(26): Show c.1444+8009_1444+8015dupTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6095346	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01981.hp1 HG01981.hp2 others(8): Show HG01243.hp2 HG01981.hp1 HG01981.hp2 HG02257.hp1 HG02486.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0002 a0002c0002t0001 a0002c0006t0001	a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0033 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0003g0069 a0001c0001t0004g0060 a0001c0003t0002g0039 a0002c0002t0001g0042 a0002c0002t0001g0078 a0002c0002t0001g0084 a0002c0006t0001g0036	11	94	0.1170	7	c.120 others(26): Show c.1200-1825_1200-1819dupAAAAAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6121616	A A	AAGCAGAC AAGCAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02818.hp1 others(8): Show HG02280.hp1 HG02559.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0005c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0005 a0002c0002t0001 a0002c0006t0001 a0005c0010t0002	a0001c0001t0002g0033 a0001c0001t0004g0076 a0001c0001t0005g0057 others(8): Show a0001c0001t0002g0033 a0001c0001t0004g0076 a0001c0001t0005g0057 a0001c0001t0005g0088 a0001c0001t0005g0094 a0001c0003t0005g0002 a0002c0002t0001g0032 a0002c0002t0001g0066 a0002c0006t0001g0036 a0002c0006t0001g0051 a0005c0010t0002g0089	11	94	0.1170	7	c.119 others(28): Show c.1199+16571_1199+16577dupGTCTGCT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6144196	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03834.hp2 HG04115.hp2 others(1): Show HG03225.hp2 HG03834.hp2 HG04115.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0003 a0001c0008t0009 a0002c0002t0001 a0001c0001t0003 a0001c0008t0009 a0002c0002t0001	a0001c0001t0003g0010 a0001c0001t0003g0069 a0001c0008t0009g0009 others(1): Show a0001c0001t0003g0010 a0001c0001t0003g0069 a0001c0008t0009g0009 a0002c0002t0001g0013	4	94	0.0426	7	c.109 others(26): Show c.1097-5907_1097-5901dupTTTTTTT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	13/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6290530	T T	TATTTTTA TATTTTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00673.hp2 others(18): Show HG00558.hp2 HG00639.hp1 HG00673.hp2 HG01243.hp2 HG01981.hp2 HG02080.hp2 HG02257.hp2 HG02486.hp1 HG02622.hp1 HG02809.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03834.hp1 NA18975.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0006 a0002c0002t0001	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 others(18): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0072 a0001c0001t0003g0011 a0001c0001t0003g0031 a0001c0001t0005g0094 a0001c0004t0006g0074 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0021 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0068 a0002c0002t0001g0078 a0002c0002t0001g0091	21	94	0.2234	7	c.127 others(26): Show c.127+11372_127+11373insTAAAAAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
LACTB2_chr8_70632266_70674185	70652901	A A	ATGATAAC ATGATAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(277): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(175): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0014 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0005g0059 a0001c0002t0001g0010 a0001c0002t0001g0079 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0194 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0003g0008 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0027 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0164 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0004t0001g0172 a0002c0003t0001g0169	280	352	0.7955	7	c.413 others(24): Show c.413+4854_413+4855insGTTATCA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	3/6			chr8	TogoVar
LACTB2_chr8_70632266_70674185	70669639	T T	TGTGTGTG TGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG03453.hp1 others(4): Show HG01243.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0217 a0001c0001t0001g0218 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0002t0001g0194	7	352	0.0199	7	c.-52 others(16): Show c.-520_-519insCACACAC	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding		455		chr8	TogoVar
LACTB_chr15_63116861_63147061	63118932	T T	TAAAAAAA TAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00733.hp2 others(28): Show HG00099.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG02083.hp1 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA19009.hp1 NA19012.hp1 NA19074.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0019 others(2): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 a0002c0003t0002 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0171 a0001c0002t0001g0020 a0001c0002t0001g0108 a0001c0019t0001g0099 a0002c0003t0002g0008 a0002c0003t0002g0011 a0002c0003t0002g0019 a0002c0003t0002g0025 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0078 a0002c0003t0002g0093 a0002c0003t0002g0097 a0002c0003t0002g0187 a0004c0006t0001g0002	31	416	0.0745	7	c.-29 others(18): Show c.-2940_-2939insAAAAAAA	LACTB	ENSG00000103642.12	transcript	ENST00000261893.9	protein_coding		2928		chr15	TogoVar
LAG3_chr12_6767520_6783455	6767598	C C	CGGGGGGG CGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01168.hp2 others(23): Show HG00408.hp1 HG00438.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG02074.hp1 HG02148.hp2 HG02300.hp2 HG02647.hp1 HG02738.hp2 HG06807.hp1 NA18941.hp2 NA18959.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA19000.hp2 NA19003.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0091 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0030	26	472	0.0551	7	c.-52 others(18): Show c.-5255_-5254insGGGGGGG	LAG3	ENSG00000089692.9	transcript	ENST00000203629.3	protein_coding		4921		chr12	TogoVar
LALBA_chr12_48562684_48575046	48571386	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0002g0015 a0001c0002t0001g0002 a0002c0003t0001g0003	262	452	0.5797	7	c.-13 others(18): Show c.-1367_-1366insAAAAAAA	LALBA	ENSG00000167531.6	transcript	ENST00000301046.6	protein_coding		1341		chr12	TogoVar
LAMA1_chr18_6936742_7122797	7053780	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(9): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp1 NA19240.hp1	a0003 a0004 a0007 others(6): Show a0003 a0004 a0007 a0009 a0012 a0013 a0020 a0025 a0052	a0003c0133 a0003c0151 a0004c0011 others(8): Show a0003c0133 a0003c0151 a0004c0011 a0007c0163 a0009c0124 a0012c0064 a0013c0062 a0020c0023 a0025c0135 a0025c0139 a0052c0125	a0003c0133t0003 a0003c0151t0001 a0004c0011t0001 others(8): Show a0003c0133t0003 a0003c0151t0001 a0004c0011t0001 a0007c0163t0002 a0009c0124t0001 a0012c0064t0002 a0013c0062t0001 a0020c0023t0002 a0025c0135t0002 a0025c0139t0003 a0052c0125t0001	a0003c0133t0003g0129 a0003c0151t0001g0191 a0004c0011t0001g0265 others(9): Show a0003c0133t0003g0129 a0003c0151t0001g0191 a0004c0011t0001g0265 a0007c0163t0002g0003 a0009c0124t0001g0260 a0012c0064t0002g0032 a0013c0062t0001g0264 a0020c0023t0002g0009 a0020c0023t0002g0010 a0025c0135t0002g0012 a0025c0139t0003g0128 a0052c0125t0001g0268	12	278	0.0432	7	c.346 others(24): Show c.346-2851_346-2845dupAAAAAAA	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	3/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7065250	A A	AAAAAAAC AAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02717.hp1 others(8): Show HG02109.hp2 HG02451.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 NA20300.hp1	a0032 a0104 a0107 others(8): Show a0032 a0104 a0107 a0108 a0109 a0111 a0112 a0114 a0117 a0118 a0119	a0032c0009 a0104c0032 a0107c0042 others(8): Show a0032c0009 a0104c0032 a0107c0042 a0108c0041 a0109c0038 a0111c0037 a0112c0039 a0114c0048 a0117c0047 a0118c0036 a0119c0035	a0032c0009t0002 a0104c0032t0001 a0107c0042t0001 others(8): Show a0032c0009t0002 a0104c0032t0001 a0107c0042t0001 a0108c0041t0001 a0109c0038t0001 a0111c0037t0006 a0112c0039t0001 a0114c0048t0002 a0117c0047t0001 a0118c0036t0003 a0119c0035t0001	a0032c0009t0002g0008 a0104c0032t0001g0204 a0107c0042t0001g0238 others(8): Show a0032c0009t0002g0008 a0104c0032t0001g0204 a0107c0042t0001g0238 a0108c0041t0001g0169 a0109c0038t0001g0205 a0111c0037t0006g0242 a0112c0039t0001g0210 a0114c0048t0002g0117 a0117c0047t0001g0255 a0118c0036t0003g0127 a0119c0035t0001g0200	11	278	0.0396	7	c.346 others(26): Show c.346-14315_346-14314insGTTTTTT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	3/62			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7100386	C C	CAGACACT CAGACACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01884.hp2 others(13): Show HG00639.hp1 HG01074.hp2 HG01884.hp2 HG01891.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA18981.hp1 NA19002.hp2	a0001 a0003 a0007 others(7): Show a0001 a0003 a0007 a0009 a0038 a0041 a0045 a0054 a0085 a0104	a0001c0001 a0001c0002 a0003c0105 others(12): Show a0001c0001 a0001c0002 a0003c0105 a0003c0118 a0003c0151 a0007c0012 a0007c0143 a0009c0134 a0009c0138 a0038c0210 a0041c0208 a0045c0055 a0054c0169 a0085c0068 a0104c0032	a0001c0001t0002 a0001c0002t0001 a0003c0105t0001 others(12): Show a0001c0001t0002 a0001c0002t0001 a0003c0105t0001 a0003c0118t0001 a0003c0151t0001 a0007c0012t0001 a0007c0143t0001 a0009c0134t0002 a0009c0138t0001 a0038c0210t0001 a0041c0208t0003 a0045c0055t0001 a0054c0169t0001 a0085c0068t0001 a0104c0032t0001	a0001c0001t0002g0101 a0001c0002t0001g0144 a0003c0105t0001g0262 others(13): Show a0001c0001t0002g0101 a0001c0002t0001g0144 a0003c0105t0001g0262 a0003c0118t0001g0173 a0003c0151t0001g0191 a0007c0012t0001g0178 a0007c0012t0001g0179 a0007c0143t0001g0274 a0009c0134t0002g0121 a0009c0138t0001g0202 a0038c0210t0001g0269 a0041c0208t0003g0126 a0045c0055t0001g0171 a0054c0169t0001g0188 a0085c0068t0001g0263 a0104c0032t0001g0204	16	278	0.0576	7	c.61+ others(24): Show c.61+17267_61+17273dupAGTGTCT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	1/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	128921704	T T	TTTTTTTG TTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02451.hp1 HG02559.hp1 others(6): Show HG00140.hp1 HG02451.hp1 HG02559.hp1 HG02698.hp1 HG02965.hp1 HG02965.hp2 HG06807.hp2 NA20129.hp2 NA21309.hp1	a0003 a0004 a0005 others(4): Show a0003 a0004 a0005 a0014 a0021 a0029 a0033	a0003c0027 a0003c0031 a0004c0018 others(5): Show a0003c0027 a0003c0031 a0004c0018 a0005c0042 a0014c0008 a0021c0023 a0029c0045 a0033c0058	a0003c0027t0001 a0003c0031t0002 a0004c0018t0001 others(5): Show a0003c0027t0001 a0003c0031t0002 a0004c0018t0001 a0005c0042t0002 a0014c0008t0002 a0021c0023t0002 a0029c0045t0002 a0033c0058t0009	a0003c0027t0001g0002 a0003c0031t0002g0005 a0004c0018t0001g0032 others(6): Show a0003c0027t0001g0002 a0003c0031t0002g0005 a0004c0018t0001g0032 a0005c0042t0002g0007 a0014c0008t0002g0084 a0014c0008t0002g0085 a0021c0023t0002g0086 a0029c0045t0002g0006 a0033c0058t0009g0004	9	88	0.1023	7	c.112 others(26): Show c.112+38353_112+38354insGTTTTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	128965979	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02559.hp1 HG02965.hp1 others(2): Show HG00140.hp1 HG02559.hp1 HG02965.hp1 HG04204.hp1 NA20129.hp2	a0001 a0003 a0021 others(1): Show a0001 a0003 a0021 a0033	a0001c0011 a0003c0027 a0003c0031 others(2): Show a0001c0011 a0003c0027 a0003c0031 a0021c0023 a0033c0058	a0001c0011t0002 a0003c0027t0001 a0003c0031t0002 others(2): Show a0001c0011t0002 a0003c0027t0001 a0003c0031t0002 a0021c0023t0002 a0033c0058t0009	a0001c0011t0002g0003 a0003c0027t0001g0002 a0003c0031t0002g0005 others(2): Show a0001c0011t0002g0003 a0003c0027t0001g0002 a0003c0031t0002g0005 a0021c0023t0002g0086 a0033c0058t0009g0004	5	88	0.0568	7	c.112 others(26): Show c.112+82637_112+82643dupTTTTTTT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	128993542	G G	GCCTGTAT GCCTGTAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG03486.hp1 HG02895.hp1 HG03130.hp2 HG03486.hp1	a0003 a0015 a0028 a0003 a0015 a0028	a0003c0002 a0015c0010 a0028c0053 a0003c0002 a0015c0010 a0028c0053	a0003c0002t0002 a0015c0010t0003 a0028c0053t0003 a0003c0002t0002 a0015c0010t0003 a0028c0053t0003	a0003c0002t0002g0083 a0015c0010t0003g0054 a0028c0053t0003g0079 a0003c0002t0002g0083 a0015c0010t0003g0054 a0028c0053t0003g0079	3	88	0.0341	7	c.113 others(26): Show c.113-56372_113-56366dupGTATCCT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129106875	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18747.hp1 NA18946.hp1 others(3): Show HG00609.hp1 NA18747.hp1 NA18946.hp1 NA18979.hp1 NA19060.hp1 NA19084.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0013	a0001c0067 a0001c0068 a0003c0063 others(3): Show a0001c0067 a0001c0068 a0003c0063 a0007c0066 a0009c0064 a0013c0065	a0001c0067t0001 a0001c0068t0003 a0003c0063t0001 others(3): Show a0001c0067t0001 a0001c0068t0003 a0003c0063t0001 a0007c0066t0001 a0009c0064t0004 a0013c0065t0004	a0001c0067t0001g0073 a0001c0068t0003g0069 a0003c0063t0001g0075 others(3): Show a0001c0067t0001g0073 a0001c0068t0003g0069 a0003c0063t0001g0075 a0007c0066t0001g0067 a0009c0064t0004g0076 a0013c0065t0004g0072	6	88	0.0682	7	c.639 others(24): Show c.639+8460_639+8461insTATATAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	4/64			chr6	TogoVar
LAMA3_chr18_23684453_23960066	23959491	C C	CCCCCCCA CCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02071.hp1 HG03540.hp1 others(14): Show HG01168.hp2 HG02071.hp1 HG03540.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0013	a0001c0001 a0001c0002 a0001c0011 others(5): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0004c0016 a0006c0008 a0009c0013 a0013c0029	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0011t0001 a0002c0003t0001 a0004c0016t0001 a0006c0008t0002 a0009c0013t0001 a0013c0029t0002	a0001c0001t0002g0163 a0001c0001t0002g0187 a0001c0001t0002g0213 others(14): Show a0001c0001t0002g0163 a0001c0001t0002g0187 a0001c0001t0002g0213 a0001c0001t0005g0165 a0001c0002t0001g0071 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0011t0001g0114 a0002c0003t0001g0279 a0004c0016t0001g0078 a0006c0008t0002g0116 a0009c0013t0001g0179 a0013c0029t0002g0186	17	280	0.0607	7	c.48 others(18): Show c.4843_*4844insCCCCCCA	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		4426		chr18	TogoVar
LAMA3_chr18_23684453_23960066	23959497	A A	ACCCCCCC ACCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01891.hp1 HG02145.hp1 others(11): Show HG00438.hp2 HG01891.hp1 HG02145.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 NA18942.hp2 NA18961.hp2 NA18975.hp1 NA19011.hp2 NA19085.hp2 NA19240.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0005c0006 a0006c0008	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0005t0001 a0001c0011t0001 a0005c0006t0001 a0006c0008t0002	a0001c0001t0002g0178 a0001c0001t0007g0166 a0001c0002t0001g0060 others(11): Show a0001c0001t0002g0178 a0001c0001t0007g0166 a0001c0002t0001g0060 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0120 a0001c0005t0001g0228 a0001c0005t0001g0235 a0001c0011t0001g0113 a0001c0011t0001g0224 a0005c0006t0001g0135 a0006c0008t0002g0199	14	280	0.0500	7	c.48 others(18): Show c.4849_*4850insCCCCCCC	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		4432		chr18	TogoVar
LAMA3_chr18_23868020_23960066	23959491	C C	CCCCCCCA CCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG02071.hp2 HG03540.hp2 others(13): Show HG01168.hp2 HG02071.hp2 HG03540.hp2 HG04199.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19030.hp2 NA19087.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0011t0001 a0002c0002t0001 a0004c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0166 a0001c0001t0001g0171 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0002g0038 a0001c0001t0002g0135 a0001c0001t0002g0153 a0001c0001t0005g0137 a0001c0003t0001g0254 a0001c0007t0001g0049 a0001c0011t0001g0247 a0002c0002t0001g0059 a0004c0005t0002g0151	16	334	0.0479	7	c.48 others(18): Show c.4843_*4844insCCCCCCA	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding		4426		chr18	TogoVar
LAMA3_chr18_23868020_23960066	23959497	A A	ACCCCCCC ACCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG01891.hp1 others(13): Show HG00423.hp1 HG00438.hp2 HG01891.hp1 HG02145.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp2 NA18942.hp1 NA18961.hp2 NA18965.hp1 NA18975.hp2 NA19011.hp1 NA19085.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0004t0001 a0004c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0163 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0263 a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0003t0001g0253 a0001c0003t0001g0255 a0003c0004t0001g0189 a0004c0005t0002g0003	16	334	0.0479	7	c.48 others(18): Show c.4849_*4850insCCCCCCC	LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding		4432		chr18	TogoVar
LAMA5_chr20_62304065_62372312	62317895	A A	AGGAGGGG AGGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00642.hp1 others(33): Show HG00099.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02897.hp1 HG02897.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04228.hp2 NA18522.hp1 NA18983.hp2 NA19043.hp1 NA19066.hp1 NA19088.hp2	a0000 a0002 a0003 others(17): Show a0000 a0002 a0003 a0012 a0014 a0015 a0018 a0019 a0034 a0047 a0048 a0051 a0052 a0053 a0055 a0059 a0074 a0080 a0091 a0095	a0000c0050 a0000c0113 a0000c0120 others(23): Show a0000c0050 a0000c0113 a0000c0120 a0002c0003 a0002c0012 a0002c0081 a0002c0125 a0003c0064 a0012c0021 a0014c0019 a0015c0020 a0018c0115 a0018c0116 a0019c0022 a0034c0106 a0047c0124 a0048c0046 a0051c0117 a0052c0118 a0053c0119 a0055c0133 a0059c0123 a0074c0049 a0080c0128 a0091c0029 a0095c0136	a0000c0050t0001 a0000c0113t0001 a0000c0120t0001 others(23): Show a0000c0050t0001 a0000c0113t0001 a0000c0120t0001 a0002c0003t0001 a0002c0012t0001 a0002c0081t0001 a0002c0125t0001 a0003c0064t0001 a0012c0021t0001 a0014c0019t0001 a0015c0020t0001 a0018c0115t0001 a0018c0116t0001 a0019c0022t0001 a0034c0106t0001 a0047c0124t0001 a0048c0046t0001 a0051c0117t0001 a0052c0118t0001 a0053c0119t0001 a0055c0133t0001 a0059c0123t0001 a0074c0049t0001 a0080c0128t0001 a0091c0029t0001 a0095c0136t0001	a0000c0050t0001g0060 a0000c0113t0001g0078 a0000c0120t0001g0077 others(33): Show a0000c0050t0001g0060 a0000c0113t0001g0078 a0000c0120t0001g0077 a0002c0003t0001g0090 a0002c0003t0001g0130 a0002c0003t0001g0132 a0002c0003t0001g0137 a0002c0003t0001g0139 a0002c0003t0001g0146 a0002c0012t0001g0015 a0002c0012t0001g0075 a0002c0012t0001g0164 a0002c0081t0001g0087 a0002c0125t0001g0027 a0003c0064t0001g0084 a0012c0021t0001g0073 a0012c0021t0001g0082 a0014c0019t0001g0152 a0015c0020t0001g0151 a0015c0020t0001g0153 a0018c0115t0001g0081 a0018c0116t0001g0070 a0019c0022t0001g0155 a0019c0022t0001g0156 a0034c0106t0001g0154 a0047c0124t0001g0083 a0048c0046t0001g0091 a0051c0117t0001g0072 a0052c0118t0001g0074 a0053c0119t0001g0071 a0055c0133t0001g0057 a0059c0123t0001g0025 a0074c0049t0001g0061 a0080c0128t0001g0026 a0091c0029t0001g0180 a0095c0136t0001g0186	36	186	0.1936	7	c.724 others(24): Show c.7240-124_7240-118dupCCCCTCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62332926	T T	TGCAGGAG TGCAGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02145.hp2 others(3): Show HG01243.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp1 NA18522.hp1 NA19043.hp2	a0000 a0003 a0031 others(3): Show a0000 a0003 a0031 a0061 a0074 a0091	a0000c0050 a0003c0132 a0031c0070 others(3): Show a0000c0050 a0003c0132 a0031c0070 a0061c0036 a0074c0049 a0091c0029	a0000c0050t0001 a0003c0132t0001 a0031c0070t0001 others(3): Show a0000c0050t0001 a0003c0132t0001 a0031c0070t0001 a0061c0036t0001 a0074c0049t0001 a0091c0029t0001	a0000c0050t0001g0060 a0003c0132t0001g0052 a0031c0070t0001g0050 others(3): Show a0000c0050t0001g0060 a0003c0132t0001g0052 a0031c0070t0001g0050 a0061c0036t0001g0181 a0074c0049t0001g0061 a0091c0029t0001g0180	6	186	0.0323	7	c.328 others(24): Show c.3282+157_3282+163dupCTCCTGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	26/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334730	G G	GTCAGGGC GTCAGGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00741.hp2 others(21): Show HG00423.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01243.hp1 HG01884.hp2 HG02040.hp2 HG02257.hp1 HG02647.hp2 HG02723.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp2 NA18970.hp2 NA19012.hp1	a0000 a0007 a0008 others(12): Show a0000 a0007 a0008 a0009 a0022 a0023 a0024 a0061 a0062 a0063 a0065 a0066 a0067 a0074 a0091	a0000c0034 a0000c0050 a0000c0075 others(15): Show a0000c0034 a0000c0050 a0000c0075 a0007c0014 a0008c0009 a0009c0006 a0022c0035 a0022c0074 a0023c0054 a0024c0017 a0061c0036 a0062c0037 a0063c0038 a0065c0073 a0066c0033 a0067c0076 a0074c0049 a0091c0029	a0000c0034t0001 a0000c0050t0001 a0000c0075t0001 others(15): Show a0000c0034t0001 a0000c0050t0001 a0000c0075t0001 a0007c0014t0001 a0008c0009t0001 a0009c0006t0003 a0022c0035t0001 a0022c0074t0001 a0023c0054t0001 a0024c0017t0001 a0061c0036t0001 a0062c0037t0001 a0063c0038t0001 a0065c0073t0001 a0066c0033t0003 a0067c0076t0001 a0074c0049t0001 a0091c0029t0001	a0000c0034t0001g0175 a0000c0050t0001g0060 a0000c0075t0001g0120 others(21): Show a0000c0034t0001g0175 a0000c0050t0001g0060 a0000c0075t0001g0120 a0007c0014t0001g0170 a0007c0014t0001g0176 a0008c0009t0001g0114 a0008c0009t0001g0135 a0008c0009t0001g0136 a0009c0006t0003g0183 a0009c0006t0003g0184 a0009c0006t0003g0185 a0022c0035t0001g0174 a0022c0074t0001g0134 a0023c0054t0001g0059 a0024c0017t0001g0157 a0024c0017t0001g0158 a0061c0036t0001g0181 a0062c0037t0001g0172 a0063c0038t0001g0171 a0065c0073t0001g0016 a0066c0033t0003g0182 a0067c0076t0001g0160 a0074c0049t0001g0061 a0091c0029t0001g0180	24	186	0.1290	7	c.248 others(24): Show c.2483-116_2483-110dupGCCCTGA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62341572	G G	GTCACCAC GTCACCAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02976.hp2 HG02109.hp1 HG02647.hp1 HG02976.hp2	a0013 a0030 a0013 a0030	a0013c0126 a0013c0135 a0030c0127 a0013c0126 a0013c0135 a0030c0127	a0013c0126t0001 a0013c0135t0001 a0030c0127t0001 a0013c0126t0001 a0013c0135t0001 a0030c0127t0001	a0013c0126t0001g0065 a0013c0135t0001g0064 a0030c0127t0001g0066 a0013c0126t0001g0065 a0013c0135t0001g0064 a0030c0127t0001g0066	3	186	0.0161	7	c.147 others(26): Show c.1478-2971_1478-2965dupGTGGTGA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	11/79			chr20	TogoVar
LAMB3_chr1_209609870_209657425	209645722	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp2 HG02300.hp2 others(5): Show HG00408.hp1 HG01496.hp2 HG02300.hp2 HG04228.hp1 NA18949.hp2 NA18985.hp1 NA19057.hp1 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0002 a0002c0019 a0003c0001 others(1): Show a0001c0002 a0002c0019 a0003c0001 a0017c0059	a0001c0002t0001 a0002c0019t0002 a0003c0001t0001 others(1): Show a0001c0002t0001 a0002c0019t0002 a0003c0001t0001 a0017c0059t0001	a0001c0002t0001g0097 a0002c0019t0002g0078 a0003c0001t0001g0074 others(5): Show a0001c0002t0001g0097 a0002c0019t0002g0078 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0001g0077 a0003c0001t0001g0101 a0017c0059t0001g0098	8	444	0.0180	7	c.183 others(24): Show c.183+4235_183+4241dupTTTTTTT	LAMB3	ENSG00000196878.15	transcript	ENST00000356082.9	protein_coding	3/22			chr1	TogoVar
LAMB4_chr7_108018553_108135361	108126554	C C	CCTTTTTT CCTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 NA19030.hp2 HG02145.hp1 HG03139.hp1 NA19030.hp2	a0006 a0020 a0006 a0020	a0006c0016 a0020c0021 a0006c0016 a0020c0021	a0006c0016t0001 a0020c0021t0002 a0006c0016t0001 a0020c0021t0002	a0006c0016t0001g0083 a0020c0021t0002g0098 a0020c0021t0002g0099 a0006c0016t0001g0083 a0020c0021t0002g0098 a0020c0021t0002g0099	3	292	0.0103	7	c.-33 others(24): Show c.-33-3358_-33-3357insAAAAAAG	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	1/33			chr7	TogoVar
LAMB4_chr7_108018553_108135361	108126554	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(50): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00741.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp2 HG04115.hp1 HG06807.hp1 NA18906.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0012 a0015 a0016 a0018 a0021 a0024 a0029 a0037 a0040	a0001c0001 a0001c0002 a0001c0063 others(17): Show a0001c0001 a0001c0002 a0001c0063 a0002c0003 a0003c0004 a0005c0008 a0005c0023 a0007c0019 a0008c0015 a0008c0038 a0010c0013 a0012c0022 a0015c0017 a0016c0062 a0018c0024 a0021c0040 a0024c0047 a0029c0067 a0037c0042 a0040c0031	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0063t0001 a0002c0003t0001 a0003c0004t0002 a0005c0008t0002 a0005c0023t0002 a0007c0019t0002 a0008c0015t0002 a0008c0038t0002 a0010c0013t0002 a0012c0022t0002 a0015c0017t0001 a0016c0062t0001 a0018c0024t0001 a0021c0040t0002 a0024c0047t0001 a0029c0067t0002 a0037c0042t0001 a0040c0031t0002	a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 others(50): Show a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0256 a0001c0001t0003g0174 a0001c0001t0003g0255 a0001c0002t0001g0008 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0170 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0162 a0001c0002t0003g0176 a0001c0063t0001g0270 a0002c0003t0001g0113 a0002c0003t0001g0114 a0003c0004t0002g0175 a0003c0004t0002g0268 a0005c0008t0002g0105 a0005c0008t0002g0110 a0005c0023t0002g0027 a0007c0019t0002g0005 a0008c0015t0002g0001 a0008c0015t0002g0002 a0008c0038t0002g0152 a0010c0013t0002g0161 a0010c0013t0002g0171 a0010c0013t0002g0173 a0012c0022t0002g0279 a0015c0017t0001g0011 a0016c0062t0001g0160 a0018c0024t0001g0108 a0018c0024t0001g0109 a0021c0040t0002g0004 a0024c0047t0001g0165 a0029c0067t0002g0257 a0037c0042t0001g0151 a0040c0031t0002g0006	53	292	0.1815	7	c.-33 others(24): Show c.-33-3364_-33-3358dupAAAAAAA	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	1/33			chr7	TogoVar
LAMC3_chr9_131004174_131099473	131063155	G G	GCAGCCAA GCAGCCAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp2 HG03130.hp1 HG02809.hp1 HG02965.hp2 HG03130.hp1	a0025 a0054 a0083 a0025 a0054 a0083	a0025c0222 a0054c0205 a0083c0212 a0025c0222 a0054c0205 a0083c0212	a0025c0222t0007 a0054c0205t0007 a0083c0212t0004 a0025c0222t0007 a0054c0205t0007 a0083c0212t0004	a0025c0222t0007g0041 a0054c0205t0007g0359 a0083c0212t0004g0037 a0025c0222t0007g0041 a0054c0205t0007g0359 a0083c0212t0004g0037	3	360	0.0083	7	c.234 others(26): Show c.2347+1943_2347+1949dupCCAACAG	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP1_chr13_113292239_113328672	113306834	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(147): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0007c0008 a0010c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0005t0001 a0001c0005t0021 a0001c0006t0001 a0007c0008t0006 a0010c0012t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(135): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0335 a0001c0001t0006g0007 a0001c0001t0006g0011 a0001c0001t0006g0096 a0001c0001t0006g0243 a0001c0001t0008g0152 a0001c0001t0008g0234 a0001c0001t0023g0099 a0001c0001t0024g0216 a0001c0001t0026g0145 a0001c0001t0029g0141 a0001c0001t0031g0290 a0001c0001t0033g0171 a0001c0001t0035g0266 a0001c0005t0001g0278 a0001c0005t0001g0302 a0001c0005t0021g0076 a0001c0006t0001g0001 a0001c0006t0001g0156 a0001c0006t0001g0158 a0007c0008t0006g0175 a0007c0008t0006g0176 a0010c0012t0008g0091	150	354	0.4237	7	c.183 others(22): Show c.183+245_183+251dupTTTTTTT	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP2_chrX_120421148_120474296	120438731	C C	CACACAAA CACACAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	297	0.0034	7	c.109 others(26): Show c.1093+2998_1093+2999insTTTGTGT	LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	8/8			chrX	TogoVar
LAMP2_chrX_120421148_120474296	120438731	C C	CACACACA CACACACA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	297	0.0034	7	c.109 others(26): Show c.1093+2998_1093+2999insTGTGTGT	LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	8/8			chrX	TogoVar
LAMP2_chrX_120421148_120474296	120438732	A A	ACACACAC ACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	297	0.0034	7	c.109 others(26): Show c.1093+2997_1093+2998insGTGTGTG	LAMP2	ENSG00000005893.17	transcript	ENST00000200639.9	protein_coding	8/8			chrX	TogoVar
LAMP3_chr3_183117215_183167734	183164314	G G	GTTTTTTT GTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01074.hp1 others(34): Show HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02165.hp2 HG02280.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG03041.hp2 HG03540.hp2 HG04184.hp1 HG04228.hp2 NA18906.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp2 NA18962.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp2 NA19012.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0013 a0001c0005t0002 a0002c0002t0002 a0002c0004t0002 a0005c0009t0002 a0005c0009t0015	a0001c0001t0001g0232 a0001c0003t0001g0281 a0001c0003t0002g0012 others(33): Show a0001c0001t0001g0232 a0001c0003t0001g0281 a0001c0003t0002g0012 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0036 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0042 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0064 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0075 a0001c0003t0013g0025 a0001c0005t0002g0011 a0001c0005t0002g0043 a0002c0002t0002g0038 a0002c0004t0002g0045 a0002c0004t0002g0063 a0005c0009t0002g0029 a0005c0009t0015g0030	37	372	0.0995	7	c.-16 others(18): Show c.-1660_-1659insAAAAAAA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding		1581		chr3	TogoVar
LAMP5_chr20_9509590_9535524	9509997	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02145.hp2 others(9): Show HG00639.hp1 HG01243.hp1 HG02145.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002	a0001c0001t0003g0038 a0001c0001t0003g0176 a0001c0001t0003g0177 others(8): Show a0001c0001t0003g0038 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0004g0262 a0002c0002t0002g0297 a0002c0002t0002g0298	12	448	0.0268	7	c.-48 others(18): Show c.-4856_-4855insAAAAAAA	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding		4592		chr20	TogoVar
LAP3_chr4_17572198_17612970	17572246	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(48): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03654.hp2 HG03831.hp1 NA18522.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18984.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19030.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(48): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0002t0001g0070 a0001c0003t0001g0059 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0006t0001g0124	51	300	0.1700	7	c.-52 others(18): Show c.-5220_-5219insTTTTTTT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		4951		chr4	TogoVar
LAP3_chr4_17572198_17612970	17593609	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0006 a0001c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(117): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0002t0002g0013 a0001c0002t0010g0185 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0005t0006g0215 a0001c0005t0006g0216 a0001c0006t0001g0047 a0001c0006t0001g0084 a0001c0006t0001g0096 a0001c0006t0001g0124	132	300	0.4400	7	c.864 others(24): Show c.864-1787_864-1781dupTTTTTTT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97781278	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00639.hp1 others(74): Show HG00140.hp2 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG02040.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03491.hp2 HG03688.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18988.hp1 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0032 a0001c0002t0009 a0001c0002t0015 a0001c0002t0019 a0001c0002t0021 a0002c0003t0005	a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 others(74): Show a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0002g0082 a0001c0001t0002g0152 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0003g0001 a0001c0001t0003g0085 a0001c0001t0003g0138 a0001c0001t0003g0262 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0331 a0001c0001t0003g0354 a0001c0001t0005g0002 a0001c0001t0005g0026 a0001c0001t0005g0045 a0001c0001t0005g0081 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0153 a0001c0001t0005g0321 a0001c0001t0006g0009 a0001c0001t0006g0083 a0001c0001t0011g0280 a0001c0001t0011g0282 a0001c0001t0016g0276 a0001c0001t0032g0318 a0001c0002t0009g0169 a0001c0002t0009g0252 a0001c0002t0009g0380 a0001c0002t0015g0168 a0001c0002t0015g0246 a0001c0002t0015g0248 a0001c0002t0019g0247 a0001c0002t0021g0242 a0002c0003t0005g0084 a0002c0003t0005g0127 a0002c0003t0005g0351	77	380	0.2026	7	c.99+ others(22): Show c.99+5185_99+5191dupTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33339399	C C	CCTCTCAG CCTCTCAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03453.hp2 HG02717.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0009 a0001c0001t0001g0053	2	110	0.0182	7	c.113 others(26): Show c.1132-1599_1132-1598insCTGAGAG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	9/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33387102	T T	TCAAAAAA TCAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 NA18522.hp2 HG01243.hp2 HG02258.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0006t0029 a0002c0005t0008 a0001c0001t0001 a0001c0006t0029 a0002c0005t0008	a0001c0001t0001g0044 a0001c0006t0029g0108 a0002c0005t0008g0014 a0001c0001t0001g0044 a0001c0006t0029g0108 a0002c0005t0008g0014	3	110	0.0273	7	c.893 others(24): Show c.893-2805_893-2799dupTTTTTTG	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33395226	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00735.hp1 others(16): Show HG00280.hp1 HG00621.hp2 HG00735.hp1 HG01070.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01496.hp2 HG01517.hp2 HG02148.hp1 HG02148.hp2 HG02647.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp2 HG03491.hp1 HG03540.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0009 a0001c0012t0019 a0001c0016t0020	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 others(16): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0002g0085 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0003g0050 a0001c0001t0004g0017 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0002g0089 a0001c0002t0002g0097 a0001c0003t0009g0001 a0001c0003t0009g0016 a0001c0012t0019g0029 a0001c0016t0020g0002	19	110	0.1727	7	c.893 others(26): Show c.893-10929_893-10923dupTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar

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