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
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02040.hp2 HG03239.hp2 others(13): Show HG00738.hp2 HG02040.hp2 HG03239.hp2 HG03491.hp1 NA18941.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18965.hp2 NA19056.hp2 NA19070.hp2 NA19085.hp1 NA19088.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0004g0196	16	370	0.0432	15	c.182 others(34): Show c.1826+3237_1826+3251dupAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730790	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18967.hp2 NA19003.hp1 others(2): Show HG00438.hp2 NA18967.hp2 NA19003.hp1 NA19076.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151	5	370	0.0135	15	c.182 others(34): Show c.1826+3251_1826+3252insAAAAAGAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23449380	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03130.hp2 HG02559.hp2 HG02622.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0111 a0002c0002t0003g0007 a0002c0002t0003g0111	3	272	0.0110	15	c.169 others(32): Show c.169+3431_170-3420dupTTTTATTTTATTTTA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COG8_chr16_69321428_69344564	69344418	G G	GAAAACTT others(8): Show GAAAACTTCCATTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0118 a0001c0002t0036g0118	1	360	0.0028	15	c.-48 others(26): Show c.-4881_-4867dupGTAAATGGAAGTTTT	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding		4855		chr16	TogoVar
COL11A1_chr1_102871473_103113522	103065522	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02572.hp2 others(2): Show HG01884.hp1 HG02559.hp1 HG02572.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0155 a0001c0002t0003g0063 a0001c0002t0003g0064 others(2): Show a0001c0002t0002g0155 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0104	5	184	0.0272	15	c.651 others(32): Show c.651+9081_651+9095dupTTTTTTTTTTTTTTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75140655	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 HG02965.hp2 others(3): Show HG01109.hp2 HG02451.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0002c0017 a0005c0016	a0001c0001t0003 a0001c0005t0005 a0002c0002t0002 others(3): Show a0001c0001t0003 a0001c0005t0005 a0002c0002t0002 a0002c0002t0008 a0002c0017t0002 a0005c0016t0006	a0001c0001t0003g0155 a0001c0005t0005g0170 a0002c0002t0002g0163 others(3): Show a0001c0001t0003g0155 a0001c0005t0005g0170 a0002c0002t0002g0163 a0002c0002t0008g0169 a0002c0017t0002g0037 a0005c0016t0006g0028	6	206	0.0291	15	c.495 others(34): Show c.4957+1362_4957+1376dupTTTTTTTTTTTTTTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	27/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75181927	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0037 a0002c0017t0002g0037	1	206	0.0049	15	c.189 others(32): Show c.1892-717_1892-716insTTTTTTTTTTTTTTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208168	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	206	0.0049	15	c.-24 others(26): Show c.-2428_-2427insAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69855778	G G	GGGGAGGG others(8): Show GGGGAGGGATGCAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(180): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0032 a0002c0005 a0002c0008 a0002c0024 a0002c0028 a0003c0013 a0003c0015 a0004c0010 a0004c0026 a0005c0012 a0005c0020 a0006c0033 a0010c0018 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0011t0001 a0001c0011t0002 a0001c0032t0001 a0002c0005t0001 a0002c0005t0003 a0002c0008t0001 a0002c0024t0003 a0002c0028t0004 a0003c0013t0010 a0003c0015t0011 a0004c0010t0002 a0004c0026t0002 a0005c0012t0001 a0005c0020t0002 a0006c0033t0001 a0010c0018t0006 a0011c0022t0010	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(180): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0023 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0007g0006 a0001c0001t0007g0152 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0162 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0211 a0001c0002t0001g0216 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0271 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0288 a0001c0002t0001g0324 a0001c0002t0002g0154 a0001c0002t0002g0165 a0001c0002t0002g0231 a0001c0002t0002g0285 a0001c0002t0002g0323 a0001c0002t0003g0233 a0001c0002t0003g0238 a0001c0002t0003g0241 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0265 a0001c0002t0003g0269 a0001c0002t0003g0314 a0001c0002t0004g0295 a0001c0002t0004g0299 a0001c0002t0004g0311 a0001c0002t0005g0240 a0001c0002t0005g0267 a0001c0002t0008g0318 a0001c0002t0015g0253 a0001c0002t0016g0242 a0001c0003t0001g0030 a0001c0003t0001g0042 a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0104 a0001c0003t0001g0116 a0001c0003t0001g0125 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0191 a0001c0003t0002g0050 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0105 a0001c0003t0002g0117 a0001c0003t0002g0119 a0001c0003t0002g0121 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0135 a0001c0003t0002g0145 a0001c0003t0002g0147 a0001c0003t0002g0186 a0001c0003t0002g0196 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0274 a0001c0004t0001g0280 a0001c0004t0001g0282 a0001c0004t0002g0155 a0001c0004t0002g0173 a0001c0004t0002g0220 a0001c0004t0002g0283 a0001c0004t0002g0284 a0001c0004t0002g0322 a0001c0004t0003g0237 a0001c0004t0003g0254 a0001c0004t0003g0258 a0001c0004t0005g0245 a0001c0004t0005g0270 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0012 a0001c0006t0002g0069 a0001c0007t0001g0180 a0001c0007t0001g0210 a0001c0007t0003g0182 a0001c0007t0003g0308 a0001c0009t0001g0179 a0001c0009t0001g0215 a0001c0011t0001g0001 a0001c0011t0002g0021 a0001c0032t0001g0170 a0002c0005t0001g0167 a0002c0005t0003g0266 a0002c0008t0001g0005 a0002c0008t0001g0110 a0002c0024t0003g0264 a0002c0028t0004g0294 a0003c0013t0010g0301 a0003c0015t0011g0114 a0004c0010t0002g0103 a0004c0010t0002g0107 a0004c0026t0002g0230 a0005c0012t0001g0026 a0005c0020t0002g0090 a0006c0033t0001g0225 a0010c0018t0006g0007 a0011c0022t0010g0232	183	324	0.5648	15	c.365 others(34): Show c.365-12005_365-11991dupAGGGAGGGATGCAAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120203021	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	218	0.0046	15	c.878 others(30): Show c.878-688_878-687insATATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47			chr8	TogoVar
COL14A1_chr8_120120102_120378573	120229089	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp1 HG01192.hp1 others(33): Show HG00544.hp2 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp2 HG02055.hp2 HG02056.hp1 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG03492.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18982.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0001c0015 a0001c0021 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0007t0002 a0001c0013t0004 a0001c0015t0003 a0001c0021t0002 a0002c0006t0002 a0004c0008t0001 a0004c0008t0008	a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0003g0093 others(33): Show a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0003g0093 a0001c0003t0001g0035 a0001c0003t0001g0050 a0001c0003t0001g0064 a0001c0003t0001g0090 a0001c0003t0001g0095 a0001c0003t0001g0125 a0001c0003t0001g0174 a0001c0003t0001g0182 a0001c0003t0001g0192 a0001c0003t0002g0056 a0001c0003t0002g0084 a0001c0003t0002g0092 a0001c0003t0002g0099 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0195 a0001c0003t0003g0172 a0001c0003t0013g0190 a0001c0003t0014g0106 a0001c0003t0015g0194 a0001c0003t0016g0138 a0001c0007t0002g0066 a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0015t0003g0094 a0001c0015t0003g0096 a0001c0021t0002g0191 a0002c0006t0002g0044 a0004c0008t0001g0101 a0004c0008t0001g0105 a0004c0008t0008g0217	36	218	0.1651	15	c.219 others(32): Show c.2197+334_2197+348dupTATTTTATTTTATTT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	18/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120334583	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19090.hp2 HG03490.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0155 a0002c0002t0003g0021 a0001c0001t0003g0155 a0002c0002t0003g0021	2	218	0.0092	15	c.478 others(34): Show c.4785+1848_4785+1849insCACACACACACACAC	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	42/47			chr8	TogoVar
COL15A1_chr9_98938907_99075787	98988065	C C	CCCAGGGA others(8): Show CCCAGGGAGAAGGGGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0299 a0003c0004t0002g0299	1	310	0.0032	15	c.723 others(30): Show c.723+703_723+717dupGAGAAGGGGTCCAGG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0215 a0010c0012t0005g0215	1	310	0.0032	15	c.365 others(32): Show c.3652-272_3652-258dupTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31685226	A A	AACAGTGA others(8): Show AACAGTGATAATAACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(21): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0027	a0001c0005 a0001c0006 a0001c0016 others(7): Show a0001c0005 a0001c0006 a0001c0016 a0001c0017 a0001c0051 a0002c0009 a0005c0022 a0005c0041 a0005c0048 a0027c0050	a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 others(9): Show a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0016t0003 a0001c0017t0003 a0001c0051t0002 a0002c0009t0002 a0005c0022t0001 a0005c0022t0002 a0005c0041t0002 a0005c0048t0008 a0027c0050t0001	a0001c0005t0001g0008 a0001c0005t0001g0100 a0001c0005t0001g0128 others(20): Show a0001c0005t0001g0008 a0001c0005t0001g0100 a0001c0005t0001g0128 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0006t0001g0097 a0001c0006t0001g0099 a0001c0006t0002g0086 a0001c0006t0002g0096 a0001c0006t0002g0098 a0001c0016t0003g0030 a0001c0017t0003g0031 a0001c0051t0002g0095 a0002c0009t0002g0146 a0005c0022t0001g0085 a0005c0022t0002g0084 a0005c0041t0002g0212 a0005c0048t0008g0040 a0027c0050t0001g0129	24	342	0.0702	15	c.201 others(32): Show c.2017-385_2017-371dupGGTTATTATCACTGT	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	29/70			chr1	TogoVar
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00621.hp1 others(26): Show HG00280.hp1 HG00408.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01952.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02572.hp2 HG03239.hp1 HG03239.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18949.hp2 NA18962.hp1 NA18969.hp1 NA18995.hp1 NA19030.hp1 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0038 a0002c0002 a0002c0004 a0003c0036 a0008c0035	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0008t0002 a0001c0038t0002 a0002c0002t0002 a0002c0004t0001 a0003c0036t0001 a0008c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0262 a0001c0003t0001g0226 a0001c0003t0001g0265 a0001c0003t0001g0267 a0001c0003t0002g0003 a0001c0003t0002g0223 a0001c0003t0002g0236 a0001c0008t0001g0273 a0001c0008t0002g0021 a0001c0008t0002g0219 a0001c0038t0002g0231 a0002c0002t0002g0159 a0002c0004t0001g0150 a0002c0004t0001g0178 a0003c0036t0001g0289 a0008c0035t0001g0234	29	342	0.0848	15	c.-35 others(26): Show c.-3537_-3536insAAAAGAAAAGAAAAG	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3322		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45416839	C C	CCTCGTTC others(8): Show CCTCGTTCTGCATATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02895.hp1 HG02559.hp1 HG02630.hp1 HG02895.hp1	a0013 a0014 a0013 a0014	a0013c0102 a0014c0039 a0013c0102 a0014c0039	a0013c0102t0004 a0014c0039t0009 a0013c0102t0004 a0014c0039t0009	a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198	3	292	0.0103	15	c.106 others(34): Show c.106+11381_106+11395dupGCTCGTTCTGCATAT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45416854	G G	GCTCGTTC others(8): Show GCTCGTTCTGCATATC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	292	0.0034	15	c.106 others(34): Show c.106+11394_106+11408dupATCCTCGTTCTGCAT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45485149	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03579.hp2 HG01361.hp2 HG03579.hp2	a0001 a0016 a0001 a0016	a0001c0003 a0016c0042 a0001c0003 a0016c0042	a0001c0003t0001 a0016c0042t0001 a0001c0003t0001 a0016c0042t0001	a0001c0003t0001g0145 a0016c0042t0001g0118 a0001c0003t0001g0145 a0016c0042t0001g0118	2	292	0.0069	15	c.170 others(34): Show c.1702-1695_1702-1681dupTTTTTTTTTTTTTTT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489868	C C	CCCCCACT others(8): Show CCCCCACTTCCACCTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0089 a0001c0089	a0001c0089t0001 a0001c0089t0001	a0001c0089t0001g0119 a0001c0089t0001g0119	1	292	0.0034	15	c.195 others(32): Show c.1959+353_1959+354insTTCCACCTGCCCCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45495906	C C	CTGGCCCA others(8): Show CTGGCCCATTCCATGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0244 a0001c0053t0001g0244	1	292	0.0034	15	c.250 others(32): Show c.2508+478_2508+492dupCCCATTCCATGATGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	29/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	70215912	A A	ACACACAC others(8): Show ACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0002 a0002c0003t0008g0002	1	182	0.0055	15	c.86 others(26): Show c.8638_*8639insCACACACACACACAC	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding		3445		chr6	TogoVar
COL1A1_chr17_50179101_50206631	50205272	T T	TTGTGTTG others(8): Show TTGTGTTGGAAGTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	448	0.0022	15	c.-37 others(26): Show c.-3760_-3759insCAGACTTCCAACACA	COL1A1	ENSG00000108821.14	transcript	ENST00000225964.10	protein_coding		3642		chr17	TogoVar
COL21A1_chr6_56051590_56252580	56147219	G G	GCTAACCT others(8): Show GCTAACCTCATTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	264	0.0038	15	c.143 others(34): Show c.1435-5251_1435-5237dupAGGAAATGAGGTTAG	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636480	A A	AGAAAGGA others(8): Show AGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02622.hp1 others(5): Show HG02258.hp2 HG02280.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0008 a0001c0010 others(3): Show a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0026 a0003c0020	a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 others(5): Show a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0010 a0001c0026t0001 a0003c0020t0003 a0003c0020t0007	a0001c0006t0002g0064 a0001c0008t0001g0041 a0001c0008t0002g0026 others(5): Show a0001c0006t0002g0064 a0001c0008t0001g0041 a0001c0008t0002g0026 a0001c0010t0001g0128 a0001c0012t0010g0012 a0001c0026t0001g0061 a0003c0020t0003g0014 a0003c0020t0007g0150	8	158	0.0506	15	c.355 others(32): Show c.3555+247_3555+261dupCTTTCCTTTCCTTTC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(8): Show AAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0014 a0001c0015 a0001c0014 a0001c0015	a0001c0014t0004 a0001c0015t0001 a0001c0014t0004 a0001c0015t0001	a0001c0014t0004g0018 a0001c0015t0001g0077 a0001c0014t0004g0018 a0001c0015t0001g0077	2	158	0.0127	15	c.355 others(32): Show c.3555+209_3555+210insGCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138726498	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01106.hp1 others(3): Show HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01884.hp2 HG02451.hp2 HG02965.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0053 a0002c0007 a0002c0022 others(2): Show a0001c0053 a0002c0007 a0002c0022 a0002c0052 a0014c0042	a0001c0053t0001 a0002c0007t0001 a0002c0022t0001 others(3): Show a0001c0053t0001 a0002c0007t0001 a0002c0022t0001 a0002c0022t0002 a0002c0052t0002 a0014c0042t0013	a0001c0053t0001g0118 a0002c0007t0001g0137 a0002c0022t0001g0040 others(3): Show a0001c0053t0001g0118 a0002c0007t0001g0137 a0002c0022t0001g0040 a0002c0022t0002g0028 a0002c0052t0002g0058 a0014c0042t0013g0140	6	158	0.0380	15	c.214 others(34): Show c.2140-1073_2140-1059dupTTTTTTTTTTTTTTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	23/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138742769	G G	GAGTTGAT others(8): Show GAGTTGATGATGGTAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp2 HG03041.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0037 a0001c0006 a0006c0037	a0001c0006t0001 a0006c0037t0008 a0001c0006t0001 a0006c0037t0008	a0001c0006t0001g0060 a0006c0037t0008g0067 a0001c0006t0001g0060 a0006c0037t0008g0067	2	158	0.0127	15	c.208 others(34): Show c.2086-5193_2086-5192insGTACCATCATCAACT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138879837	T T	TAAAACAA others(8): Show TAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG02630.hp2 others(7): Show HG00280.hp2 HG00735.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0010 others(4): Show a0001c0001 a0001c0002 a0001c0010 a0001c0017 a0001c0024 a0003c0020 a0008c0055	a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 others(6): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0005 a0001c0010t0007 a0001c0017t0005 a0001c0017t0007 a0001c0024t0016 a0003c0020t0007 a0008c0055t0005	a0001c0001t0005g0142 a0001c0002t0003g0009 a0001c0002t0005g0153 others(7): Show a0001c0001t0005g0142 a0001c0002t0003g0009 a0001c0002t0005g0153 a0001c0010t0007g0155 a0001c0017t0005g0149 a0001c0017t0005g0152 a0001c0017t0007g0147 a0001c0024t0016g0158 a0003c0020t0007g0150 a0008c0055t0005g0148	10	158	0.0633	15	c.92- others(30): Show c.92-1536_92-1522dupGTTTTGTTTTGTTTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	2/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18971.hp2 NA18990.hp2 HG03654.hp2 NA18971.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0222 a0002c0002t0001g0019 a0002c0002t0001g0186 a0001c0001t0005g0222 a0002c0002t0001g0019 a0002c0002t0001g0186	3	236	0.0127	15	c.362 others(34): Show c.362-96190_362-96189insTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178556625	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01361.hp2 HG01934.hp1 others(6): Show HG00280.hp1 HG01361.hp2 HG01934.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 NA20300.hp2	a0003 a0004 a0011 a0003 a0004 a0011	a0003c0005 a0003c0007 a0004c0006 others(2): Show a0003c0005 a0003c0007 a0004c0006 a0004c0011 a0011c0013	a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 others(3): Show a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0011t0001 a0011c0013t0005	a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0145 others(6): Show a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0145 a0003c0005t0003g0217 a0003c0005t0003g0220 a0003c0007t0001g0012 a0004c0006t0003g0128 a0004c0011t0001g0093 a0011c0013t0005g0132	9	236	0.0381	15	c.361 others(32): Show c.361+4042_361+4056dupTTTTATTTTATTTTA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178556667	A A	AAAATAAA others(8): Show AAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG03471.hp1 others(1): Show HG02630.hp2 HG03139.hp2 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0003 a0002c0014t0003 a0001c0001t0003 a0002c0014t0003	a0001c0001t0003g0123 a0001c0001t0003g0166 a0001c0001t0003g0182 others(1): Show a0001c0001t0003g0123 a0001c0001t0003g0166 a0001c0001t0003g0182 a0002c0014t0003g0124	4	236	0.0170	15	c.361 others(32): Show c.361+4014_361+4015insAATTTTATTTTATTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(8): Show TGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0127 a0003c0005t0003g0127	1	236	0.0042	15	c.295 others(32): Show c.295-1989_295-1988insTCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(8): Show TGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03098.hp1 HG03540.hp1 others(1): Show HG02897.hp1 HG03098.hp1 HG03540.hp1 HG04228.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0003c0005 a0003c0007 others(1): Show a0001c0001 a0003c0005 a0003c0007 a0011c0013	a0001c0001t0005 a0003c0005t0002 a0003c0007t0001 others(1): Show a0001c0001t0005 a0003c0005t0002 a0003c0007t0001 a0011c0013t0005	a0001c0001t0005g0161 a0003c0005t0002g0171 a0003c0007t0001g0137 others(1): Show a0001c0001t0005g0161 a0003c0005t0002g0171 a0003c0007t0001g0137 a0011c0013t0005g0132	4	236	0.0170	15	c.295 others(32): Show c.295-1989_295-1988insCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562743	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0133	1	236	0.0042	15	c.295 others(32): Show c.295-1996_295-1995insACCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572067	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02615.hp2 others(3): Show HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02809.hp2 HG02965.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0002c0009 a0002c0022	a0001c0001t0003 a0001c0001t0006 a0001c0021t0006 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0021t0006 a0002c0002t0010 a0002c0009t0006 a0002c0022t0009	a0001c0001t0003g0119 a0001c0001t0006g0230 a0001c0021t0006g0234 others(3): Show a0001c0001t0003g0119 a0001c0001t0006g0230 a0001c0021t0006g0234 a0002c0002t0010g0228 a0002c0009t0006g0232 a0002c0022t0009g0233	6	236	0.0254	15	c.295 others(34): Show c.295-11320_295-11319insTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572072	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	236	0.0042	15	c.295 others(34): Show c.295-11325_295-11324insTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01099.hp1 others(51): Show HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp2 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18955.hp2 NA18970.hp1 NA18971.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19076.hp1 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0019 a0022 a0024 a0030 a0035 a0037	a0001c0001 a0002c0003 a0003c0031 others(17): Show a0001c0001 a0002c0003 a0003c0031 a0004c0002 a0005c0004 a0006c0028 a0006c0062 a0007c0014 a0008c0006 a0009c0008 a0010c0009 a0011c0015 a0012c0012 a0016c0021 a0019c0051 a0022c0030 a0024c0026 a0030c0078 a0035c0054 a0037c0046	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 others(30): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0008 a0002c0003t0016 a0003c0031t0004 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0004 a0005c0004t0001 a0005c0004t0002 a0006c0028t0003 a0006c0062t0001 a0007c0014t0001 a0007c0014t0003 a0007c0014t0017 a0008c0006t0001 a0009c0008t0001 a0009c0008t0002 a0009c0008t0014 a0010c0009t0001 a0010c0009t0003 a0011c0015t0002 a0012c0012t0001 a0016c0021t0001 a0019c0051t0002 a0022c0030t0006 a0024c0026t0001 a0030c0078t0002 a0035c0054t0004 a0037c0046t0006	a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0219 others(51): Show a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0219 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0002g0143 a0002c0003t0002g0146 a0002c0003t0004g0131 a0002c0003t0008g0150 a0002c0003t0016g0227 a0003c0031t0004g0065 a0003c0031t0004g0066 a0004c0002t0001g0130 a0004c0002t0002g0129 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0004g0206 a0004c0002t0004g0215 a0005c0004t0001g0194 a0005c0004t0002g0120 a0005c0004t0002g0187 a0005c0004t0002g0189 a0006c0028t0003g0072 a0006c0062t0001g0094 a0007c0014t0001g0203 a0007c0014t0001g0221 a0007c0014t0003g0235 a0007c0014t0017g0238 a0008c0006t0001g0034 a0008c0006t0001g0049 a0008c0006t0001g0059 a0009c0008t0001g0101 a0009c0008t0002g0102 a0009c0008t0002g0106 a0009c0008t0002g0109 a0009c0008t0014g0103 a0010c0009t0001g0036 a0010c0009t0003g0058 a0011c0015t0002g0027 a0012c0012t0001g0128 a0016c0021t0001g0021 a0016c0021t0001g0022 a0019c0051t0002g0096 a0022c0030t0006g0003 a0024c0026t0001g0037 a0024c0026t0001g0046 a0030c0078t0002g0237 a0035c0054t0004g0097 a0037c0046t0006g0007	54	238	0.2269	15	c.277 others(32): Show c.2778+929_2778+930insAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85923954	T T	TCAAACAG others(8): Show TCAAACAGACGCAATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0138 a0005c0013t0002g0138	1	238	0.0042	15	c.256 others(36): Show c.2563-12536_2563-12522dupTATTGCGTCTGTTTG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	24/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108807839	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01258.hp1 others(7): Show HG01071.hp2 HG01167.hp2 HG01258.hp1 HG01884.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02165.hp2 HG02922.hp1 NA18998.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0027 a0003c0008t0003	a0001c0001t0002g0075 a0001c0001t0002g0105 a0001c0001t0002g0117 others(7): Show a0001c0001t0002g0075 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0020g0035 a0001c0001t0027g0086 a0003c0008t0003g0034	10	130	0.0769	15	c.60 others(26): Show c.6087_*6088insTATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		885		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108822043	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01258.hp2 HG02071.hp2 others(5): Show HG00741.hp1 HG01258.hp2 HG02071.hp2 HG02145.hp2 HG02602.hp2 HG03927.hp1 NA18998.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0028 a0001c0005t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0116 others(5): Show a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0003g0025 a0001c0001t0019g0023 a0001c0001t0028g0084 a0001c0005t0002g0123	8	130	0.0615	15	c.184 others(34): Show c.1845+2116_1845+2130dupAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	35/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108873522	C C	CTAGTAGT others(8): Show CTAGTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01981.hp1 HG02293.hp2 others(4): Show HG01346.hp1 HG01981.hp1 HG02293.hp2 HG02523.hp1 HG02976.hp1 NA18941.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0102 a0001c0001t0002g0120 a0001c0001t0003g0016 others(4): Show a0001c0001t0002g0102 a0001c0001t0002g0120 a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0004g0004 a0001c0002t0004g0028 a0001c0002t0005g0065	7	130	0.0539	15	c.102 others(34): Show c.1021-4387_1021-4373dupCTACTACTACTACTA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	19/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108913261	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02896.hp1 HG03927.hp2 others(1): Show HG02071.hp1 HG02896.hp1 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0121 a0001c0001t0002g0111 a0001c0001t0007g0090 others(1): Show a0001c0001t0001g0121 a0001c0001t0002g0111 a0001c0001t0007g0090 a0001c0002t0003g0010	4	130	0.0308	15	c.780 others(32): Show c.780+4896_780+4910dupAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	13/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(8): Show CCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp1 HG01243.hp1 others(15): Show HG00558.hp2 HG01167.hp1 HG01243.hp1 HG01346.hp2 HG01981.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG03209.hp1 HG03492.hp2 HG03710.hp2 HG06807.hp1 NA18941.hp2 NA19043.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0003t0008 a0001c0005t0002	a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0114 others(15): Show a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0002g0085 a0001c0001t0002g0094 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0004g0004 a0001c0001t0017g0003 a0001c0002t0001g0052 a0001c0002t0001g0101 a0001c0002t0004g0011 a0001c0002t0004g0028 a0001c0002t0005g0112 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0003t0008g0036 a0001c0005t0002g0124	18	130	0.1385	15	c.492 others(34): Show c.492+12784_492+12798dupAACAGAACAGAACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108990239	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0057	1	130	0.0077	15	c.439 others(34): Show c.439-15681_439-15680insATATATATATATATT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109047728	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	130	0.0077	15	c.420 others(30): Show c.420+425_420+439dupAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109057421	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	130	0.0077	15	c.368 others(32): Show c.368-7257_368-7243dupAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254469	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02165.hp1 HG02165.hp2 HG01071.hp2 HG02165.hp1 HG02165.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0003 a0001c0002t0004 a0003c0008t0003 a0001c0001t0003 a0001c0002t0004 a0003c0008t0003	a0001c0001t0003g0020 a0001c0002t0004g0011 a0003c0008t0003g0034 a0001c0001t0003g0020 a0001c0002t0004g0011 a0003c0008t0003g0034	3	130	0.0231	15	c.367 others(34): Show c.367+46113_367+46114insTATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101391854	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(10): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00673.hp2 HG00741.hp2 HG01081.hp2 HG01167.hp1 HG02486.hp1 HG02647.hp2 HG02965.hp1 HG03486.hp1 HG03486.hp2 NA18955.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0001c0014 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0005t0002 a0001c0005t0012 others(4): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0012 a0001c0008t0007 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001	a0001c0001t0002g0081 a0001c0005t0002g0149 a0001c0005t0012g0082 others(10): Show a0001c0001t0002g0081 a0001c0005t0002g0149 a0001c0005t0012g0082 a0001c0005t0012g0089 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0014t0009g0117 a0002c0003t0001g0088 a0002c0003t0001g0100 a0002c0003t0001g0102 a0002c0003t0001g0161 a0002c0004t0001g0148	13	174	0.0747	15	c.159 others(34): Show c.159-28099_159-28085dupCTTTTCTTTTCTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101439553	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 homoSapiens_chm13v2.hp1 HG00140.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0077 a0001c0008t0007g0078	2	174	0.0115	15	c.282 others(32): Show c.282-8117_282-8116insAAAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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