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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Select column to sort.

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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
COL5A1_chr9_134636803_134849843	134847584	GTATGGTA GTATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(129): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0003 others(39): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0001c0033 a0001c0044 a0001c0056 a0001c0061 a0002c0013 a0002c0017 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0004c0029 a0004c0067 a0005c0062 a0007c0066 a0008c0030 a0010c0037 a0012c0043 a0013c0055 a0014c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(79): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0059 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0016 a0001c0003t0021 a0001c0003t0028 a0001c0003t0044 a0001c0004t0001 a0001c0004t0004 a0001c0004t0011 a0001c0004t0033 a0001c0005t0001 a0001c0005t0006 a0001c0005t0045 a0001c0005t0050 a0001c0005t0053 a0001c0005t0054 a0001c0006t0001 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0004 a0001c0015t0001 a0001c0015t0052 a0001c0016t0001 a0001c0018t0008 a0001c0019t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0006 a0001c0027t0001 a0001c0028t0004 a0001c0028t0038 a0001c0031t0006 a0001c0033t0006 a0001c0044t0057 a0001c0056t0001 a0001c0061t0013 a0002c0013t0021 a0002c0017t0003 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0004c0029t0005 a0004c0067t0001 a0005c0062t0011 a0007c0066t0001 a0008c0030t0001 a0010c0037t0001 a0012c0043t0043 a0013c0055t0007 a0014c0053t0029	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(129): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0212 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0007g0248 a0001c0001t0011g0229 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0027g0210 a0001c0001t0031g0075 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0005g0070 a0001c0003t0007g0003 a0001c0003t0008g0078 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0028g0135 a0001c0003t0044g0186 a0001c0004t0001g0013 a0001c0004t0001g0170 a0001c0004t0001g0204 a0001c0004t0001g0225 a0001c0004t0004g0089 a0001c0004t0011g0080 a0001c0004t0033g0131 a0001c0005t0001g0107 a0001c0005t0006g0040 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0005t0053g0105 a0001c0005t0054g0167 a0001c0006t0001g0108 a0001c0007t0001g0195 a0001c0007t0006g0002 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0003g0143 a0001c0012t0004g0112 a0001c0015t0001g0268 a0001c0015t0052g0016 a0001c0016t0001g0022 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0022t0001g0181 a0001c0023t0001g0014 a0001c0024t0001g0207 a0001c0026t0006g0101 a0001c0027t0001g0130 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0033t0006g0190 a0001c0044t0057g0042 a0001c0056t0001g0084 a0001c0061t0013g0178 a0002c0013t0021g0071 a0002c0017t0003g0118 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0062t0011g0026 a0007c0066t0001g0235 a0008c0030t0001g0137 a0010c0037t0001g0057 a0012c0043t0043g0037 a0013c0055t0007g0257 a0014c0053t0029g0134	132	272	0.4853	-7	c.52 others(18): Show c.5282_*5288delTATGGTA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2742		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189050280	CTCCGGGA CTCCGGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(96): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19076.hp1 NA19084.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0014	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0019 a0001c0025 a0003c0014 a0004c0013 a0005c0011 a0006c0009 a0007c0015 a0014c0020	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0002t0002 a0001c0010t0001 a0001c0010t0007 a0001c0019t0001 a0001c0025t0001 a0003c0014t0001 a0004c0013t0001 a0005c0011t0001 a0006c0009t0001 a0007c0015t0001 a0014c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0007g0057 a0001c0001t0013g0013 a0001c0001t0013g0145 a0001c0001t0022g0086 a0001c0002t0002g0059 a0001c0010t0001g0101 a0001c0010t0007g0075 a0001c0019t0001g0072 a0001c0025t0001g0125 a0003c0014t0001g0039 a0003c0014t0001g0120 a0004c0013t0001g0113 a0004c0013t0001g0114 a0005c0011t0001g0077 a0005c0011t0001g0080 a0006c0009t0001g0019 a0006c0009t0001g0027 a0007c0015t0001g0108 a0014c0020t0001g0123	99	248	0.3992	-7	c.303 others(24): Show c.3039+282_3039+288delTCCCGGA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	43/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA TAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG02922.hp2 others(3): Show HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp1 HG03209.hp1 NA18522.hp2	a0006 a0026 a0033 a0006 a0026 a0033	a0006c0055 a0006c0082 a0026c0056 others(2): Show a0006c0055 a0006c0082 a0026c0056 a0026c0086 a0033c0042	a0006c0055t0001 a0006c0055t0002 a0006c0082t0007 others(3): Show a0006c0055t0001 a0006c0055t0002 a0006c0082t0007 a0026c0056t0002 a0026c0086t0002 a0033c0042t0001	a0006c0055t0001g0399 a0006c0055t0002g0305 a0006c0082t0007g0169 others(3): Show a0006c0055t0001g0399 a0006c0055t0002g0305 a0006c0082t0007g0169 a0026c0056t0002g0407 a0026c0086t0002g0165 a0033c0042t0001g0116	6	412	0.0146	-7	c.478 others(26): Show c.4782+1453_4782+1459delTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9965150	CTTTTTCT CTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00558.hp2 others(73): Show HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG06807.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0003 a0006 a0008 others(19): Show a0003 a0006 a0008 a0010 a0011 a0012 a0014 a0018 a0020 a0021 a0022 a0023 a0029 a0034 a0036 a0044 a0049 a0053 a0059 a0064 a0065 a0072	a0003c0009 a0003c0011 a0003c0125 others(28): Show a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0006c0022 a0008c0092 a0010c0015 a0010c0119 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0014c0064 a0018c0018 a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0023c0027 a0029c0088 a0034c0078 a0034c0131 a0036c0073 a0036c0102 a0044c0062 a0049c0079 a0053c0129 a0059c0090 a0064c0076 a0065c0103 a0072c0093	a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 others(39): Show a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0006c0022t0007 a0006c0022t0011 a0008c0092t0002 a0010c0015t0002 a0010c0119t0002 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0014c0064t0001 a0018c0018t0003 a0018c0018t0006 a0018c0018t0009 a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0023c0027t0002 a0029c0088t0002 a0034c0078t0001 a0034c0131t0001 a0036c0073t0006 a0036c0102t0003 a0044c0062t0003 a0049c0079t0003 a0053c0129t0006 a0059c0090t0003 a0064c0076t0007 a0065c0103t0003 a0072c0093t0001	a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 others(72): Show a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0357 a0003c0009t0003g0385 a0003c0009t0003g0395 a0003c0011t0003g0057 a0003c0011t0003g0138 a0003c0011t0003g0142 a0003c0011t0006g0212 a0003c0011t0006g0214 a0003c0011t0006g0341 a0003c0011t0009g0280 a0003c0011t0009g0281 a0003c0125t0003g0369 a0003c0136t0009g0066 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0008c0092t0002g0021 a0010c0015t0002g0247 a0010c0119t0002g0397 a0011c0006t0003g0132 a0011c0006t0003g0174 a0011c0006t0003g0175 a0011c0006t0003g0186 a0011c0006t0003g0188 a0011c0006t0006g0181 a0011c0006t0006g0189 a0011c0006t0006g0194 a0011c0006t0009g0130 a0011c0006t0016g0171 a0012c0017t0001g0120 a0012c0017t0001g0141 a0012c0017t0001g0143 a0012c0017t0001g0144 a0012c0017t0002g0270 a0012c0025t0001g0151 a0012c0025t0001g0347 a0012c0025t0002g0317 a0012c0025t0003g0394 a0012c0077t0001g0113 a0014c0064t0001g0180 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0006g0009 a0018c0018t0009g0019 a0018c0018t0009g0020 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0023c0027t0002g0178 a0023c0027t0002g0198 a0023c0027t0002g0199 a0029c0088t0002g0255 a0034c0078t0001g0389 a0034c0131t0001g0292 a0036c0073t0006g0164 a0036c0102t0003g0226 a0044c0062t0003g0191 a0049c0079t0003g0338 a0053c0129t0006g0058 a0059c0090t0003g0126 a0064c0076t0007g0042 a0065c0103t0003g0224 a0072c0093t0001g0282	76	412	0.1845	-7	c.478 others(26): Show c.4782+1157_4782+1163delAGAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10000452	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01070.hp1 others(21): Show HG00323.hp2 HG00733.hp2 HG01070.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03516.hp2 NA19063.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0006 a0009 others(6): Show a0001 a0006 a0009 a0013 a0022 a0032 a0034 a0066 a0070	a0001c0001 a0001c0024 a0006c0022 others(7): Show a0001c0001 a0001c0024 a0006c0022 a0009c0007 a0013c0008 a0022c0030 a0032c0122 a0034c0131 a0066c0106 a0070c0098	a0001c0001t0001 a0001c0024t0001 a0006c0022t0007 others(8): Show a0001c0001t0001 a0001c0024t0001 a0006c0022t0007 a0006c0022t0011 a0009c0007t0001 a0013c0008t0001 a0022c0030t0002 a0032c0122t0001 a0034c0131t0001 a0066c0106t0002 a0070c0098t0001	a0001c0001t0001g0329 a0001c0001t0001g0375 a0001c0024t0001g0343 others(21): Show a0001c0001t0001g0329 a0001c0001t0001g0375 a0001c0024t0001g0343 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0009c0007t0001g0231 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0022c0030t0002g0195 a0032c0122t0001g0170 a0034c0131t0001g0292 a0066c0106t0002g0043 a0070c0098t0001g0006	24	412	0.0583	-7	c.111 others(26): Show c.1110+1065_1110+1071delAAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL6A2_chr21_46093112_46134801	46101847	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01099.hp2 others(27): Show HG00140.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG02080.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA18986.hp2 NA18988.hp2 NA19000.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0014 a0001c0025 a0001c0027 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0005t0001 a0001c0011t0001 a0001c0014t0002 a0001c0025t0002 a0001c0027t0003 a0003c0004t0002	a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0274 others(24): Show a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0274 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0255 a0001c0002t0002g0280 a0001c0002t0002g0283 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0327 a0001c0002t0002g0333 a0001c0002t0009g0020 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0005t0001g0264 a0001c0005t0001g0330 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0014t0002g0321 a0001c0025t0002g0282 a0001c0027t0003g0252 a0003c0004t0002g0328	30	372	0.0807	-7	c.-28 others(24): Show c.-28+3696_-28+3702delTTTTTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134349	GGGGGTCA GGGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02451.hp1 others(9): Show HG01074.hp1 HG01109.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02886.hp1 HG03195.hp1 HG03225.hp2 HG03491.hp2 NA18522.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0003 a0003c0004t0004 a0002c0003t0003 a0003c0004t0004	a0002c0003t0003g0055 a0002c0003t0003g0083 a0003c0004t0004g0045 others(9): Show a0002c0003t0003g0055 a0002c0003t0003g0083 a0003c0004t0004g0045 a0003c0004t0004g0198 a0003c0004t0004g0207 a0003c0004t0004g0209 a0003c0004t0004g0215 a0003c0004t0004g0216 a0003c0004t0004g0217 a0003c0004t0004g0219 a0003c0004t0004g0220 a0003c0004t0004g0234	12	372	0.0323	-7	c.48 others(18): Show c.4859_*4865delGGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4549		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46101847	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01099.hp2 others(25): Show HG00140.hp2 HG00735.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG02080.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18986.hp2 NA18988.hp2 NA19000.hp2 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19088.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0015 a0001c0019 a0001c0024 a0001c0046 a0003c0010	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0013 a0001c0004t0001 a0001c0009t0001 a0001c0015t0002 a0001c0019t0001 a0001c0024t0002 a0001c0046t0001 a0003c0010t0002	a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0002g0019 others(22): Show a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0252 a0001c0002t0002g0276 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0324 a0001c0002t0009g0330 a0001c0002t0013g0314 a0001c0004t0001g0261 a0001c0009t0001g0021 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0015t0002g0327 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0024t0002g0318 a0001c0046t0001g0249 a0003c0010t0002g0325	28	364	0.0769	-7	c.-28 others(24): Show c.-28+3696_-28+3702delTTTTTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134349	GGGGGTCA GGGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02451.hp1 others(9): Show HG01074.hp1 HG01109.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02886.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp2 NA18522.hp1 NA20805.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0004c0005t0004 a0002c0003t0001 a0004c0005t0004	a0002c0003t0001g0057 a0002c0003t0001g0085 a0004c0005t0004g0047 others(9): Show a0002c0003t0001g0057 a0002c0003t0001g0085 a0004c0005t0004g0047 a0004c0005t0004g0194 a0004c0005t0004g0203 a0004c0005t0004g0205 a0004c0005t0004g0211 a0004c0005t0004g0212 a0004c0005t0004g0213 a0004c0005t0004g0215 a0004c0005t0004g0216 a0004c0005t0004g0230	12	364	0.0330	-7	c.17 others(18): Show c.1798_*1804delGGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1502		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135895	GCATTCCC GCATTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02897.hp1 others(1): Show HG02559.hp2 HG02886.hp2 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 others(1): Show a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265	4	364	0.0110	-7	c.33 others(18): Show c.3344_*3350delCATTCCC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3048		chr21	TogoVar
COL6A5_chr3_130340672_130489846	130475007	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01361.hp2 others(11): Show HG00140.hp2 HG01169.hp2 HG01361.hp2 HG02738.hp1 HG03017.hp2 HG03831.hp2 HG03834.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp1 NA19005.hp1 NA19062.hp1 NA19080.hp1 NA19083.hp1	a0011 a0013 a0014 others(1): Show a0011 a0013 a0014 a0053	a0011c0012 a0013c0016 a0013c0075 others(2): Show a0011c0012 a0013c0016 a0013c0075 a0014c0013 a0053c0092	a0011c0012t0002 a0013c0016t0001 a0013c0016t0010 others(3): Show a0011c0012t0002 a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0053c0092t0002	a0011c0012t0002g0195 a0013c0016t0001g0144 a0013c0016t0010g0013 others(11): Show a0011c0012t0002g0195 a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0053c0092t0002g0192	14	292	0.0480	-7	c.781 others(26): Show c.7819+3098_7819+3104delAAAAAAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130527890	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00738.hp2 others(34): Show HG00597.hp2 HG00621.hp1 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01496.hp1 HG01891.hp1 HG02132.hp1 HG02145.hp1 HG02922.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp1 NA19077.hp1 NA19083.hp2 NA19087.hp2	a0003 a0004 a0008 others(5): Show a0003 a0004 a0008 a0013 a0022 a0031 a0034 a0037	a0003c0010 a0004c0004 a0004c0022 others(7): Show a0003c0010 a0004c0004 a0004c0022 a0008c0006 a0008c0034 a0013c0012 a0022c0024 a0031c0044 a0034c0078 a0037c0069	a0003c0010t0001 a0003c0010t0003 a0003c0010t0009 others(20): Show a0003c0010t0001 a0003c0010t0003 a0003c0010t0009 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0022t0010 a0008c0006t0003 a0008c0006t0004 a0008c0006t0007 a0008c0006t0027 a0008c0034t0001 a0008c0034t0004 a0013c0012t0001 a0013c0012t0006 a0022c0024t0005 a0022c0024t0018 a0031c0044t0002 a0034c0078t0004 a0037c0069t0002	a0003c0010t0001g0181 a0003c0010t0003g0006 a0003c0010t0003g0007 others(34): Show a0003c0010t0001g0181 a0003c0010t0003g0006 a0003c0010t0003g0007 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0004c0004t0001g0172 a0004c0004t0001g0206 a0004c0004t0002g0038 a0004c0004t0002g0039 a0004c0004t0002g0047 a0004c0004t0003g0119 a0004c0004t0005g0043 a0004c0004t0009g0247 a0004c0004t0009g0254 a0004c0004t0010g0248 a0004c0004t0010g0250 a0004c0022t0010g0249 a0008c0006t0003g0122 a0008c0006t0003g0180 a0008c0006t0004g0226 a0008c0006t0004g0230 a0008c0006t0004g0231 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0007g0227 a0008c0006t0027g0232 a0008c0034t0001g0102 a0008c0034t0004g0233 a0013c0012t0001g0115 a0013c0012t0006g0040 a0022c0024t0005g0037 a0022c0024t0018g0097 a0031c0044t0002g0096 a0034c0078t0004g0212 a0037c0069t0002g0046	37	264	0.1402	-7	c.-32 others(26): Show c.-32+10512_-32+10518delTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130542898	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01167.hp1 others(19): Show HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18982.hp1 NA18988.hp1 NA19005.hp2	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0010 a0025 a0034	a0001c0001 a0003c0010 a0008c0006 others(5): Show a0001c0001 a0003c0010 a0008c0006 a0008c0034 a0010c0014 a0025c0073 a0025c0074 a0034c0078	a0001c0001t0002 a0003c0010t0001 a0003c0010t0009 others(10): Show a0001c0001t0002 a0003c0010t0001 a0003c0010t0009 a0008c0006t0003 a0008c0006t0004 a0008c0006t0007 a0008c0006t0027 a0008c0034t0001 a0010c0014t0001 a0010c0014t0002 a0025c0073t0028 a0025c0074t0004 a0034c0078t0004	a0001c0001t0002g0111 a0003c0010t0001g0181 a0003c0010t0009g0251 others(19): Show a0001c0001t0002g0111 a0003c0010t0001g0181 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0008c0006t0003g0122 a0008c0006t0003g0180 a0008c0006t0004g0226 a0008c0006t0004g0230 a0008c0006t0004g0231 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0007g0227 a0008c0006t0027g0232 a0008c0034t0001g0102 a0010c0014t0001g0017 a0010c0014t0001g0132 a0010c0014t0002g0197 a0025c0073t0028g0218 a0025c0074t0004g0215 a0034c0078t0004g0212	22	264	0.0833	-7	c.-31 others(26): Show c.-31-17416_-31-17410delTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130561634	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02622.hp2 others(4): Show HG01255.hp2 HG02055.hp1 HG02622.hp2 HG02630.hp2 HG02897.hp2 HG04115.hp1 NA19043.hp2	a0006 a0014 a0027 others(1): Show a0006 a0014 a0027 a0028	a0006c0015 a0014c0011 a0027c0041 others(1): Show a0006c0015 a0014c0011 a0027c0041 a0028c0042	a0006c0015t0001 a0014c0011t0001 a0014c0011t0003 others(3): Show a0006c0015t0001 a0014c0011t0001 a0014c0011t0003 a0014c0011t0004 a0027c0041t0001 a0028c0042t0003	a0006c0015t0001g0205 a0014c0011t0001g0177 a0014c0011t0003g0178 others(4): Show a0006c0015t0001g0205 a0014c0011t0001g0177 a0014c0011t0003g0178 a0014c0011t0003g0179 a0014c0011t0004g0217 a0027c0041t0001g0021 a0028c0042t0003g0118	7	264	0.0265	-7	c.64+ others(22): Show c.64+1229_64+1235delTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590292	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp1 HG00738.hp2 HG01167.hp1 HG01169.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0004 a0008c0006t0004	a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243	3	264	0.0114	-7	c.421 others(24): Show c.4219-748_4219-742delATATATA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36			chr3	TogoVar
COL8A2_chr1_36090239_36130222	36090679	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00735.hp1 others(55): Show HG00408.hp1 HG00408.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01123.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02922.hp1 HG03098.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18950.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0012	a0001c0002 a0001c0006 a0003c0008 others(2): Show a0001c0002 a0001c0006 a0003c0008 a0004c0009 a0012c0011	a0001c0002t0002 a0001c0002t0006 a0001c0006t0002 others(4): Show a0001c0002t0002 a0001c0002t0006 a0001c0006t0002 a0001c0006t0006 a0003c0008t0002 a0004c0009t0002 a0012c0011t0006	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0025 others(44): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0025 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0209 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0316 a0001c0002t0002g0337 a0001c0002t0006g0248 a0001c0006t0002g0024 a0001c0006t0002g0081 a0001c0006t0002g0241 a0001c0006t0002g0328 a0001c0006t0006g0332 a0003c0008t0002g0225 a0003c0008t0002g0254 a0004c0009t0002g0205 a0004c0009t0002g0233 a0012c0011t0006g0216	58	390	0.1487	-7	c.68 others(18): Show c.6883_*6889delTTTTTTT	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding		4559		chr1	TogoVar
COL8A2_chr1_36090239_36130222	36121388	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(70): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp1 HG01261.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02056.hp1 HG02083.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03688.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18950.hp1 NA18952.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19056.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0005 a0003c0008 a0004c0009 a0012c0011	a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 a0001c0002t0006 a0001c0006t0002 a0002c0003t0002 a0002c0003t0010 a0003c0005t0001 a0003c0008t0002 a0004c0009t0002 a0012c0011t0006	a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 others(55): Show a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0257 a0001c0001t0020g0208 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0258 a0001c0002t0002g0316 a0001c0002t0002g0337 a0001c0002t0006g0248 a0001c0006t0002g0024 a0001c0006t0002g0224 a0001c0006t0002g0241 a0002c0003t0002g0220 a0002c0003t0010g0221 a0003c0005t0001g0218 a0003c0008t0002g0225 a0004c0009t0002g0205 a0004c0009t0002g0233 a0012c0011t0006g0216	73	390	0.1872	-7	c.-62 others(24): Show c.-62+3662_-62+3668delTTTTTTT	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	1/3			chr1	TogoVar
COL9A1_chr6_70211126_70308084	70302155	CCTAATTA CCTAATTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00738.hp2 others(25): Show HG00323.hp2 HG00438.hp1 HG00738.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG02055.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03225.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18940.hp2 NA18949.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA19066.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0001 a0002c0004 a0003c0006 others(4): Show a0001c0001 a0002c0004 a0003c0006 a0004c0007 a0005c0005 a0006c0011 a0008c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0004t0002 a0003c0006t0003 a0004c0007t0001 a0004c0007t0006 a0004c0007t0007 a0005c0005t0001 a0005c0005t0002 a0006c0011t0004 a0008c0015t0003	a0001c0001t0002g0019 a0001c0001t0003g0012 a0001c0001t0004g0257 others(23): Show a0001c0001t0002g0019 a0001c0001t0003g0012 a0001c0001t0004g0257 a0002c0004t0002g0020 a0003c0006t0003g0026 a0003c0006t0003g0027 a0004c0007t0001g0014 a0004c0007t0001g0017 a0004c0007t0001g0018 a0004c0007t0001g0021 a0004c0007t0001g0023 a0004c0007t0001g0028 a0004c0007t0001g0256 a0004c0007t0006g0346 a0004c0007t0006g0347 a0004c0007t0007g0331 a0004c0007t0007g0348 a0005c0005t0001g0016 a0005c0005t0001g0022 a0005c0005t0001g0024 a0005c0005t0001g0255 a0005c0005t0001g0258 a0005c0005t0001g0260 a0005c0005t0002g0015 a0006c0011t0004g0259 a0008c0015t0003g0002	28	362	0.0774	-7	c.15- others(18): Show c.15-88_15-82delTAATTAG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	1/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321124	TATATATA TATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG03516.hp2 HG02717.hp2 HG02818.hp1 HG03516.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0039 a0005c0004t0002g0069 a0005c0004t0002g0039 a0005c0004t0002g0069	3	438	0.0069	-7	c.-39 others(18): Show c.-3934_-3928delTATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3839		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069628	AAATATAT AAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG02602.hp2 others(7): Show HG00140.hp2 HG00558.hp1 HG02602.hp2 HG02723.hp1 HG02965.hp1 HG04115.hp1 NA18964.hp1 NA18984.hp1 NA20129.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0005t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0242 others(7): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0242 a0001c0001t0002g0185 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0003c0005t0001g0188	10	388	0.0258	-7	c.148 others(24): Show c.148+2201_148+2207delATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069630	ATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG02109.hp1 others(2): Show HG01123.hp2 HG01433.hp1 HG02109.hp1 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0005g0203 others(2): Show a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0219	5	388	0.0129	-7	c.148 others(24): Show c.148+2202_148+2208delTATATAT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5			chr8	TogoVar
COLEC10_chr8_119062247_119113455	119085599	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01099.hp2 others(29): Show HG00099.hp1 HG00140.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01891.hp2 HG02109.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0003t0004 a0001c0007t0003	a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0180 others(26): Show a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0180 a0001c0001t0004g0205 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0216 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0012g0221 a0001c0003t0004g0159 a0001c0003t0004g0206 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0220 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0007t0003g0200	32	388	0.0825	-7	c.149 others(24): Show c.149-4064_149-4058delTTTTTTT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	319321	TAAAAAAA TAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG02922.hp2 HG02970.hp2 others(5): Show HG01099.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03927.hp2 NA18964.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0003c0002	a0001c0003t0016 a0001c0003t0042 a0001c0004t0155 others(3): Show a0001c0003t0016 a0001c0003t0042 a0001c0004t0155 a0001c0005t0016 a0003c0002t0188 a0003c0002t0200	a0001c0003t0016g0047 a0001c0003t0016g0328 a0001c0003t0042g0130 others(5): Show a0001c0003t0016g0047 a0001c0003t0016g0328 a0001c0003t0042g0130 a0001c0003t0042g0343 a0001c0004t0155g0135 a0001c0005t0016g0141 a0003c0002t0188g0218 a0003c0002t0200g0332	8	366	0.0219	-7	c.71 others(16): Show c.717_*723delTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	717		chr18	TogoVar
COLEC12_chr18_311737_505701	319336	AAAAAAAT AAAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02897.hp1 HG02965.hp2 HG03041.hp1 others(5): Show HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp2 NA18522.hp2 NA18983.hp1 NA19068.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0004 a0002c0001 a0003c0002 others(2): Show a0001c0004 a0002c0001 a0003c0002 a0006c0009 a0007c0011	a0001c0004t0043 a0001c0004t0191 a0001c0004t0192 others(4): Show a0001c0004t0043 a0001c0004t0191 a0001c0004t0192 a0002c0001t0095 a0003c0002t0043 a0006c0009t0094 a0007c0011t0040	a0001c0004t0043g0116 a0001c0004t0191g0118 a0001c0004t0192g0119 others(5): Show a0001c0004t0043g0116 a0001c0004t0191g0118 a0001c0004t0192g0119 a0002c0001t0095g0204 a0003c0002t0043g0334 a0006c0009t0094g0139 a0007c0011t0040g0097 a0007c0011t0040g0228	8	366	0.0219	-7	c.70 others(16): Show c.702_*708delATTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	702		chr18	TogoVar
COLEC12_chr18_311737_505701	359018	TCTCTGTA TCTCTGTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp2 HG01258.hp1 others(17): Show HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG02683.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG04228.hp1 HG06807.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002 a0005c0014	a0001c0003t0003 a0001c0003t0013 a0001c0003t0019 others(16): Show a0001c0003t0003 a0001c0003t0013 a0001c0003t0019 a0001c0003t0041 a0001c0003t0042 a0001c0004t0005 a0001c0004t0039 a0001c0004t0243 a0001c0005t0079 a0002c0001t0015 a0002c0001t0019 a0002c0001t0073 a0002c0001t0141 a0002c0001t0232 a0003c0002t0054 a0003c0002t0126 a0003c0002t0211 a0003c0002t0252 a0005c0014t0034	a0001c0003t0003g0352 a0001c0003t0013g0002 a0001c0003t0019g0042 others(16): Show a0001c0003t0003g0352 a0001c0003t0013g0002 a0001c0003t0019g0042 a0001c0003t0041g0050 a0001c0003t0042g0343 a0001c0004t0005g0112 a0001c0004t0039g0322 a0001c0004t0243g0275 a0001c0005t0079g0034 a0002c0001t0015g0242 a0002c0001t0019g0008 a0002c0001t0073g0117 a0002c0001t0141g0178 a0002c0001t0232g0321 a0003c0002t0054g0239 a0003c0002t0126g0217 a0003c0002t0211g0113 a0003c0002t0252g0360 a0005c0014t0034g0025	20	366	0.0546	-7	c.59- others(22): Show c.59-1503_59-1497delTACAGAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	385316	ATTTTTTT ATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp2 HG01109.hp2 others(51): Show HG00408.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp1 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18949.hp2 NA18957.hp2 NA18962.hp2 NA18968.hp1 NA18986.hp1 NA18990.hp2 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(6): Show a0001c0003 a0001c0004 a0001c0005 a0001c0023 a0002c0001 a0002c0007 a0003c0002 a0003c0017 a0004c0006	a0001c0003t0009 a0001c0003t0025 a0001c0003t0027 others(49): Show a0001c0003t0009 a0001c0003t0025 a0001c0003t0027 a0001c0003t0041 a0001c0003t0093 a0001c0003t0098 a0001c0004t0005 a0001c0004t0038 a0001c0004t0148 a0001c0004t0191 a0001c0004t0192 a0001c0004t0245 a0001c0005t0007 a0001c0005t0062 a0001c0005t0077 a0001c0005t0089 a0001c0005t0220 a0001c0023t0172 a0002c0001t0001 a0002c0001t0008 a0002c0001t0019 a0002c0001t0073 a0002c0001t0095 a0002c0001t0101 a0002c0001t0103 a0002c0001t0136 a0002c0001t0137 a0002c0001t0180 a0002c0001t0183 a0002c0001t0184 a0002c0001t0201 a0002c0001t0203 a0002c0001t0222 a0002c0001t0240 a0002c0001t0241 a0002c0001t0244 a0002c0007t0132 a0002c0007t0223 a0003c0002t0010 a0003c0002t0012 a0003c0002t0018 a0003c0002t0022 a0003c0002t0054 a0003c0002t0075 a0003c0002t0099 a0003c0002t0116 a0003c0002t0143 a0003c0002t0187 a0003c0002t0188 a0003c0002t0252 a0003c0017t0090 a0004c0006t0215	a0001c0003t0009g0344 a0001c0003t0025g0203 a0001c0003t0027g0104 others(51): Show a0001c0003t0009g0344 a0001c0003t0025g0203 a0001c0003t0027g0104 a0001c0003t0041g0050 a0001c0003t0093g0306 a0001c0003t0098g0160 a0001c0004t0005g0137 a0001c0004t0038g0324 a0001c0004t0148g0096 a0001c0004t0191g0118 a0001c0004t0192g0119 a0001c0004t0245g0167 a0001c0005t0007g0225 a0001c0005t0062g0201 a0001c0005t0077g0304 a0001c0005t0089g0134 a0001c0005t0220g0340 a0001c0023t0172g0107 a0002c0001t0001g0099 a0002c0001t0001g0280 a0002c0001t0008g0183 a0002c0001t0008g0298 a0002c0001t0019g0008 a0002c0001t0073g0117 a0002c0001t0095g0204 a0002c0001t0101g0079 a0002c0001t0103g0200 a0002c0001t0136g0305 a0002c0001t0137g0310 a0002c0001t0180g0070 a0002c0001t0183g0216 a0002c0001t0184g0276 a0002c0001t0201g0243 a0002c0001t0203g0179 a0002c0001t0222g0346 a0002c0001t0240g0058 a0002c0001t0241g0188 a0002c0001t0244g0069 a0002c0007t0132g0041 a0002c0007t0223g0040 a0003c0002t0010g0282 a0003c0002t0012g0264 a0003c0002t0018g0127 a0003c0002t0022g0210 a0003c0002t0054g0239 a0003c0002t0075g0031 a0003c0002t0099g0233 a0003c0002t0116g0020 a0003c0002t0143g0076 a0003c0002t0187g0229 a0003c0002t0188g0218 a0003c0002t0252g0360 a0003c0017t0090g0219 a0004c0006t0215g0341	54	366	0.1475	-7	c.59- others(24): Show c.59-27801_59-27795delAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	406515	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01261.hp2 others(4): Show HG01081.hp1 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01993.hp2 HG02273.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 others(1): Show a0001c0003 a0001c0004 a0002c0001 a0002c0007	a0001c0003t0060 a0001c0004t0005 a0002c0001t0046 others(4): Show a0001c0003t0060 a0001c0004t0005 a0002c0001t0046 a0002c0001t0104 a0002c0001t0161 a0002c0001t0182 a0002c0007t0223	a0001c0003t0060g0162 a0001c0004t0005g0137 a0002c0001t0046g0033 others(4): Show a0001c0003t0060g0162 a0001c0004t0005g0137 a0002c0001t0046g0033 a0002c0001t0104g0220 a0002c0001t0161g0286 a0002c0001t0182g0318 a0002c0007t0223g0040	7	366	0.0191	-7	c.59- others(24): Show c.59-49000_59-48994delTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17583576	CAAAAAAA CAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01109.hp2 others(23): Show HG00140.hp1 HG01070.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG02257.hp1 HG02723.hp1 HG02965.hp2 HG03130.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04228.hp2 NA18951.hp2 NA18952.hp1 NA18963.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA19009.hp1 NA19030.hp1 NA19054.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0052	a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0006g0006 others(14): Show a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0006g0006 a0001c0001t0006g0011 a0001c0001t0006g0032 a0001c0001t0006g0096 a0001c0001t0006g0100 a0001c0001t0006g0126 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0018g0044 a0001c0001t0018g0095 a0001c0001t0018g0099 a0001c0001t0018g0101 a0001c0001t0023g0014 a0001c0001t0041g0006 a0001c0001t0052g0265	26	396	0.0657	-7	c.21 others(18): Show c.2133_*2139delAAAAAAA	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		420		chr19	TogoVar
COLGALT2_chr1_183930834_184042728	184035145	ACCAGTGT ACCAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(90): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18985.hp2 NA18987.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0003c0005 a0008c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0002 a0001c0002t0006 a0001c0002t0026 a0001c0004t0004 a0001c0004t0011 a0001c0008t0018 a0002c0003t0011 a0002c0003t0014 a0003c0005t0005 a0003c0005t0010 a0003c0005t0038 a0008c0013t0013	a0001c0001t0001g0112 a0001c0001t0004g0011 a0001c0001t0004g0012 others(90): Show a0001c0001t0001g0112 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0096 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0109 a0001c0001t0008g0037 a0001c0001t0008g0041 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0063 a0001c0001t0008g0070 a0001c0001t0008g0073 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0091 a0001c0001t0011g0026 a0001c0001t0011g0030 a0001c0001t0011g0031 a0001c0001t0011g0051 a0001c0001t0011g0058 a0001c0001t0011g0092 a0001c0001t0014g0024 a0001c0001t0014g0033 a0001c0001t0014g0059 a0001c0001t0014g0072 a0001c0001t0017g0032 a0001c0001t0017g0067 a0001c0001t0025g0023 a0001c0001t0027g0028 a0001c0001t0028g0075 a0001c0001t0029g0055 a0001c0001t0030g0052 a0001c0001t0031g0068 a0001c0001t0032g0085 a0001c0002t0002g0110 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0006g0027 a0001c0002t0006g0029 a0001c0002t0006g0038 a0001c0002t0006g0042 a0001c0002t0006g0045 a0001c0002t0006g0050 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0094 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0026g0060 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0004t0011g0089 a0001c0008t0018g0111 a0002c0003t0011g0025 a0002c0003t0011g0074 a0002c0003t0014g0034 a0003c0005t0005g0104 a0003c0005t0010g0103 a0003c0005t0038g0102 a0008c0013t0013g0113	93	340	0.2735	-7	c.263 others(24): Show c.263+1943_263+1949delACACTGG	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLQ_chr3_15445133_15526706	15454651	GTTTTTTT GTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(116): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 others(101): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0091 a0001c0001t0002g0107 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0343 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0011g0068 a0001c0001t0014g0291 a0001c0001t0015g0116	119	382	0.3115	-7	c.119 others(24): Show c.1196-727_1196-721delAAAAAAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	15/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15463339	GTTGTTTT GTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02615.hp2 others(14): Show HG02055.hp1 HG02280.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03471.hp2 NA18972.hp1 NA18999.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0004c0006 a0001c0003 a0002c0002 a0004c0006	a0001c0003t0004 a0002c0002t0005 a0004c0006t0004 a0001c0003t0004 a0002c0002t0005 a0004c0006t0004	a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0272 others(13): Show a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0272 a0001c0003t0004g0311 a0001c0003t0004g0331 a0001c0003t0004g0332 a0001c0003t0004g0335 a0001c0003t0004g0337 a0001c0003t0004g0339 a0001c0003t0004g0340 a0001c0003t0004g0341 a0002c0002t0005g0333 a0002c0002t0005g0334 a0002c0002t0005g0336 a0004c0006t0004g0244 a0004c0006t0004g0246	17	382	0.0445	-7	c.814 others(24): Show c.814+2995_814+3001delAAAACAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COLQ_chr3_15445133_15526706	15497036	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02280.hp1 others(11): Show HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03471.hp1 NA18522.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0005 a0003c0004t0002 a0001c0001t0001 a0002c0002t0005 a0003c0004t0002	a0001c0001t0001g0248 a0001c0001t0001g0260 a0002c0002t0005g0020 others(9): Show a0001c0001t0001g0248 a0001c0001t0001g0260 a0002c0002t0005g0020 a0002c0002t0005g0021 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0005g0251 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0254 a0003c0004t0002g0247 a0003c0004t0002g0258	14	382	0.0367	-7	c.107 others(24): Show c.107-7406_107-7400delAAAAAAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	1/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116154160	CATTATCA CATTATCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02886.hp2 others(4): Show HG02280.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0181	7	350	0.0200	-7	c.510 others(26): Show c.510+19983_510+19989delATTATCA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116247957	CTTAAAAG CTTAAAAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02145.hp2 others(4): Show HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02809.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0331 others(4): Show a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0331 a0001c0002t0001g0107 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0005t0001g0105	7	350	0.0200	-7	c.511 others(26): Show c.511-43553_511-43547delGTTAAAA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62014542	CTTTTTTT CTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(77): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03139.hp1 HG03579.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19012.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 others(77): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0275 a0001c0001t0003g0278	80	286	0.2797	-7	c.462 others(26): Show c.462+13591_462+13597delTTTTTTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62080528	AGAAACAG AGAAACAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02922.hp1 others(6): Show HG01261.hp1 HG02451.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 others(6): Show a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229	9	286	0.0315	-7	c.463 others(26): Show c.463-55300_463-55294delAACAGGA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62115853	TTTCTTTC TTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(117): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00673.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0237 a0001c0001t0002g0252 a0001c0001t0003g0039 a0001c0001t0003g0087 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0002c0004t0001g0021 a0002c0004t0001g0081	120	286	0.4196	-7	c.463 others(26): Show c.463-19975_463-19969delCTTTCTT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD2_chr3_149733472_149757489	149742975	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00738.hp1 others(37): Show HG00558.hp2 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02523.hp2 HG02809.hp1 HG02976.hp1 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18964.hp2 NA18966.hp2 NA18980.hp1 NA18985.hp1 NA18994.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19067.hp2 NA19079.hp1 NA19082.hp1 NA19087.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0003g0034 a0001c0001t0019g0123	40	424	0.0943	-7	c.403 others(24): Show c.403-1264_403-1258delCTTTTTT	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	4/4			chr3	TogoVar
COMMD3_chr10_22311388_22325306	22316220	AGCTGGAC AGCTGGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02896.hp1 HG03139.hp1 others(1): Show HG01975.hp2 HG02896.hp1 HG03139.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0003g0014 a0002c0002t0001g0004 a0002c0002t0003g0014	4	308	0.0130	-7	c.-19 others(16): Show c.-197_-191delGCTGGAC	COMMD3	ENSG00000148444.16	transcript	ENST00000376836.8	protein_coding		167		chr10	TogoVar
COMMD7_chr20_32697699_32748467	32705369	TATATATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02970.hp1 others(4): Show HG02630.hp1 HG02886.hp1 HG02970.hp1 HG03041.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0369 others(4): Show a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0369 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294	7	400	0.0175	-7	c.337 others(22): Show c.337-472_337-466delTATATAT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32712269	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00741.hp2 others(72): Show HG00280.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18906.hp2 NA18946.hp1 NA18950.hp2 NA18953.hp2 NA18959.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19082.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 others(69): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0243 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0312 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0001g0371	75	400	0.1875	-7	c.242 others(24): Show c.242-5516_242-5510delTTTTTTT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32728679	ACCTCAGC ACCTCAGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(106): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(99): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0372 a0001c0001t0002g0078 a0001c0001t0002g0269 a0001c0001t0002g0361 a0002c0002t0001g0077	109	400	0.2725	-7	c.85- others(20): Show c.85-544_85-538delGCTGAGG	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMT_chr22_19936772_19974975	19948954	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01256.hp2 others(14): Show HG01081.hp1 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG04184.hp2 HG04204.hp2 NA18952.hp2 NA18980.hp1 NA19057.hp2 NA19085.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0005 a0001c0003t0007 others(2): Show a0001c0002t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0014 a0002c0001t0001	a0001c0002t0001g0037 a0001c0002t0001g0189 a0001c0003t0005g0005 others(12): Show a0001c0002t0001g0037 a0001c0002t0001g0189 a0001c0003t0005g0005 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0003t0005g0031 a0001c0003t0005g0032 a0001c0003t0005g0033 a0001c0003t0005g0034 a0001c0003t0005g0035 a0001c0003t0005g0200 a0001c0003t0005g0202 a0001c0003t0007g0036 a0001c0003t0014g0030 a0002c0001t0001g0004	17	426	0.0399	-7	c.-92 others(24): Show c.-92+7076_-92+7082delAAAAAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175949168	CAAAAAAA CAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01169.hp1 others(11): Show HG00099.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0287 a0001c0001t0003g0299 a0001c0001t0003g0300 others(11): Show a0001c0001t0003g0287 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	14	300	0.0467	-7	c.213 others(26): Show c.2134-1936_2134-1930delTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175998084	AAAAAAAG AAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01496.hp2 others(10): Show HG01109.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02818.hp1 HG04184.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0287 others(10): Show a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300	13	300	0.0433	-7	c.173 others(26): Show c.1730-8612_1730-8606delCTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COPA_chr1_160283594_160348250	160301339	ATTTTTGG ATTTTTGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp1 HG03471.hp2 others(12): Show HG00438.hp1 HG01891.hp1 HG03471.hp2 HG03579.hp1 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18978.hp2 NA18979.hp1 NA18991.hp2 NA18992.hp1 NA19057.hp1 NA19068.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 others(1): Show a0001c0001 a0002c0003 a0002c0006 a0002c0013	a0001c0001t0006 a0002c0003t0006 a0002c0006t0006 others(1): Show a0001c0001t0006 a0002c0003t0006 a0002c0006t0006 a0002c0013t0006	a0001c0001t0006g0287 a0002c0003t0006g0190 a0002c0003t0006g0191 others(12): Show a0001c0001t0006g0287 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192 a0002c0003t0006g0193 a0002c0003t0006g0194 a0002c0003t0006g0195 a0002c0003t0006g0196 a0002c0003t0006g0197 a0002c0003t0006g0198 a0002c0003t0006g0199 a0002c0006t0006g0180 a0002c0006t0006g0181 a0002c0006t0006g0182 a0002c0013t0006g0077	15	366	0.0410	-7	c.166 others(26): Show c.1668-2082_1668-2076delCCAAAAA	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	17/32			chr1	TogoVar
COPB1_chr11_14452512_14504811	14462174	CAGTAGAG CAGTAGAG	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0217	3	386	0.0078	-7	c.241 others(24): Show c.2411-850_2411-844delCTCTACT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	18/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18902778	AAGGAAGG AAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03239.hp2 HG03486.hp1 others(1): Show HG02615.hp2 HG03239.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0002t0001g0104 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0002t0001g0104 a0001c0002t0001g0108	4	330	0.0121	-7	c.735 others(22): Show c.735+483_735+489delCCTTCCT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129263740	CCTTCAAG CCTTCAAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00639.hp2 others(62): Show HG00408.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18950.hp2 NA18955.hp2 NA18966.hp1 NA18972.hp2 NA18990.hp2 NA19001.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0004t0002 a0001c0004t0003 a0001c0007t0002 a0001c0009t0002 a0001c0010t0005 a0001c0011t0002 a0001c0012t0002 a0001c0013t0002	a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0080 others(38): Show a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0080 a0001c0002t0002g0005 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0005g0078 a0001c0003t0003g0009 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0004t0002g0084 a0001c0004t0003g0003 a0001c0004t0003g0081 a0001c0004t0003g0086 a0001c0004t0003g0087 a0001c0004t0003g0089 a0001c0004t0003g0090 a0001c0007t0002g0060 a0001c0007t0002g0064 a0001c0007t0002g0066 a0001c0007t0002g0069 a0001c0009t0002g0072 a0001c0009t0002g0073 a0001c0010t0005g0079 a0001c0011t0002g0088 a0001c0012t0002g0092 a0001c0013t0002g0091	65	326	0.1994	-7	c.112 others(24): Show c.1129-155_1129-149delTTCAAGC	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
COPG2_chr7_130501238_130673748	130506318	TCCCCCCC TCCCCCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01261.hp2 others(17): Show HG00323.hp1 HG00544.hp1 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02148.hp1 HG02300.hp2 HG02523.hp1 HG03490.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp1 NA19010.hp1 NA19054.hp2 NA19066.hp1 NA19070.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0068 a0001c0002t0003g0080 a0001c0002t0003g0087 others(17): Show a0001c0002t0003g0068 a0001c0002t0003g0080 a0001c0002t0003g0087 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0117 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0261	20	326	0.0614	-7	c.35 others(16): Show c.351_*357delGGGGGGG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	24/24	351		chr7	TogoVar

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