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 per page.

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
COL28A1_chr7_7352875_7540873	7442862	CCATCTCT others(10): Show CCATCTCTACTAAAAATA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02886.hp2 others(4): Show HG02486.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp2 NA18968.hp2	a0003 a0005 a0033 a0003 a0005 a0033	a0003c0047 a0005c0010 a0005c0044 others(1): Show a0003c0047 a0005c0010 a0005c0044 a0033c0050	a0003c0047t0003 a0005c0010t0001 a0005c0010t0002 others(2): Show a0003c0047t0003 a0005c0010t0001 a0005c0010t0002 a0005c0044t0003 a0033c0050t0002	a0003c0047t0003g0045 a0005c0010t0001g0043 a0005c0010t0001g0092 others(4): Show a0003c0047t0003g0045 a0005c0010t0001g0043 a0005c0010t0001g0092 a0005c0010t0001g0105 a0005c0010t0002g0044 a0005c0044t0003g0039 a0033c0050t0002g0190	7	196	0.0357	-17	c.165 others(34): Show c.1650+706_1650+722delTATTTTTAGTAGAGATG	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	20/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188997012	TATATATA others(10): Show TATATATATATATGAGAC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18954.hp2 NA19000.hp2 NA18747.hp1 NA18954.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0066 a0001c0001t0001g0183 a0001c0001t0001g0184	3	376	0.0080	-17	c.176 others(34): Show c.1762-142_1762-126delATGAGACATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110230320	ATGTGCAT others(10): Show ATGTGCATGCACGTGATG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp2 NA18953.hp1 NA18957.hp2	a0002 a0006 a0002 a0006	a0002c0024 a0006c0042 a0002c0024 a0006c0042	a0002c0024t0002 a0006c0042t0002 a0002c0024t0002 a0006c0042t0002	a0002c0024t0002g0276 a0006c0042t0002g0278 a0002c0024t0002g0276 a0006c0042t0002g0278	2	344	0.0058	-17	c.144 others(36): Show c.144+12338_144+12354delCATCACGTGCATGCACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253310	ATTACATA others(10): Show ATTACATATACATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02145.hp2 others(15): Show HG00280.hp2 HG00323.hp1 HG02145.hp2 HG02300.hp2 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp1 HG04204.hp2 NA18974.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0001c0010 a0001c0013 others(13): Show a0001c0007 a0001c0010 a0001c0013 a0001c0016 a0001c0020 a0001c0059 a0002c0015 a0002c0031 a0002c0039 a0002c0093 a0003c0012 a0003c0045 a0003c0081 a0004c0005 a0004c0017 a0004c0022	a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 others(13): Show a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0016t0003 a0001c0020t0001 a0001c0059t0001 a0002c0015t0001 a0002c0031t0001 a0002c0039t0002 a0002c0093t0003 a0003c0012t0001 a0003c0045t0002 a0003c0081t0009 a0004c0005t0001 a0004c0017t0001 a0004c0022t0001	a0001c0007t0001g0046 a0001c0010t0001g0150 a0001c0013t0001g0050 others(15): Show a0001c0007t0001g0046 a0001c0010t0001g0150 a0001c0013t0001g0050 a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0020t0001g0112 a0001c0059t0001g0091 a0002c0015t0001g0199 a0002c0031t0001g0254 a0002c0039t0002g0302 a0002c0093t0003g0217 a0003c0012t0001g0180 a0003c0045t0002g0305 a0003c0081t0009g0183 a0004c0005t0001g0115 a0004c0017t0001g0093 a0004c0022t0001g0012	18	344	0.0523	-17	c.85- others(34): Show c.85-10593_85-10577delATTATATGTATATGTAA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110442087	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00621.hp2 others(56): Show HG00408.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02523.hp1 HG02738.hp1 HG03486.hp2 HG03669.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA19002.hp2 NA19007.hp2 NA19065.hp2 NA19066.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0013 a0015 a0023 a0026	a0001c0002 a0001c0003 a0001c0005 others(15): Show a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0016 a0001c0047 a0001c0100 a0001c0106 a0002c0038 a0002c0092 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0013c0042 a0015c0109 a0023c0099 a0026c0104	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(34): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0023 a0001c0003t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0011t0003 a0001c0011t0004 a0001c0011t0008 a0001c0016t0001 a0001c0016t0003 a0001c0016t0007 a0001c0047t0002 a0001c0100t0001 a0001c0106t0001 a0002c0038t0002 a0002c0092t0001 a0005c0020t0002 a0005c0020t0006 a0005c0021t0001 a0005c0021t0006 a0005c0021t0028 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0012 a0006c0027t0039 a0013c0042t0002 a0015c0109t0002 a0023c0099t0006 a0026c0104t0006	a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 others(56): Show a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0136 a0001c0002t0004g0275 a0001c0002t0005g0100 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0008g0012 a0001c0002t0023g0305 a0001c0003t0002g0293 a0001c0005t0001g0102 a0001c0005t0001g0184 a0001c0005t0001g0249 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0005t0002g0322 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0005t0003g0080 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0011t0004g0311 a0001c0011t0008g0176 a0001c0016t0001g0109 a0001c0016t0003g0094 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0047t0002g0310 a0001c0100t0001g0164 a0001c0106t0001g0217 a0002c0038t0002g0360 a0002c0092t0001g0230 a0005c0020t0002g0270 a0005c0020t0002g0271 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0006g0054 a0005c0021t0028g0239 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0012g0281 a0006c0027t0039g0096 a0013c0042t0002g0313 a0013c0042t0002g0314 a0015c0109t0002g0321 a0023c0099t0006g0058 a0026c0104t0006g0085	59	372	0.1586	-17	c.957 others(34): Show c.957+2266_957+2282delAAAAAAAAAAAAAAAAA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	16/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227291576	AAAACAAA others(10): Show AAAACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02040.hp1 HG02109.hp2 others(10): Show HG01884.hp1 HG02040.hp1 HG02109.hp2 HG02155.hp1 HG03041.hp1 HG04115.hp1 NA18953.hp2 NA18957.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18979.hp1 NA19079.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0010 a0015 a0025 a0032	a0002c0004 a0003c0002 a0004c0003 others(4): Show a0002c0004 a0003c0002 a0004c0003 a0010c0018 a0015c0025 a0025c0043 a0032c0032	a0002c0004t0003 a0003c0002t0003 a0004c0003t0003 others(4): Show a0002c0004t0003 a0003c0002t0003 a0004c0003t0003 a0010c0018t0002 a0015c0025t0003 a0025c0043t0012 a0032c0032t0012	a0002c0004t0003g0091 a0002c0004t0003g0259 a0003c0002t0003g0136 others(10): Show a0002c0004t0003g0091 a0002c0004t0003g0259 a0003c0002t0003g0136 a0003c0002t0003g0171 a0003c0002t0003g0207 a0003c0002t0003g0237 a0004c0003t0003g0031 a0004c0003t0003g0251 a0004c0003t0003g0288 a0010c0018t0002g0202 a0015c0025t0003g0206 a0025c0043t0012g0233 a0032c0032t0012g0062	13	344	0.0378	-17	c.321 others(34): Show c.3210+694_3210+710delCAAAAAAAAAAAACAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227009713	GGAAAAGA others(10): Show GGAAAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(142): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015 a0016 a0018 a0019 a0021 a0022 a0023 a0024 a0027 a0031 a0032 a0033 a0036 a0037 a0038 a0039 a0041 a0042 a0045	a0001c0010 a0002c0002 a0002c0019 others(41): Show a0001c0010 a0002c0002 a0002c0019 a0002c0021 a0002c0058 a0002c0060 a0003c0014 a0004c0004 a0004c0040 a0004c0051 a0005c0007 a0005c0045 a0005c0046 a0005c0071 a0006c0005 a0006c0035 a0007c0006 a0007c0031 a0008c0008 a0008c0028 a0010c0018 a0011c0012 a0013c0013 a0015c0024 a0015c0042 a0016c0064 a0016c0065 a0018c0023 a0019c0025 a0021c0016 a0022c0015 a0023c0039 a0024c0069 a0027c0047 a0031c0061 a0032c0057 a0033c0043 a0036c0055 a0037c0066 a0038c0038 a0039c0067 a0041c0029 a0042c0034 a0045c0030	a0001c0010t0005 a0002c0002t0002 a0002c0002t0005 others(55): Show a0001c0010t0005 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0019t0005 a0002c0021t0002 a0002c0058t0005 a0002c0060t0002 a0003c0014t0002 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020 a0004c0004t0037 a0004c0040t0002 a0004c0051t0005 a0005c0007t0002 a0005c0007t0005 a0005c0045t0003 a0005c0046t0005 a0005c0071t0005 a0006c0005t0004 a0006c0005t0009 a0006c0005t0013 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 a0008c0008t0004 a0008c0008t0009 a0008c0028t0034 a0010c0018t0004 a0011c0012t0006 a0013c0013t0006 a0015c0024t0002 a0015c0024t0012 a0015c0042t0013 a0016c0064t0005 a0016c0065t0005 a0018c0023t0002 a0019c0025t0002 a0021c0016t0014 a0022c0015t0004 a0023c0039t0007 a0024c0069t0002 a0027c0047t0015 a0031c0061t0002 a0032c0057t0002 a0033c0043t0011 a0036c0055t0029 a0037c0066t0012 a0038c0038t0005 a0039c0067t0028 a0041c0029t0004 a0042c0034t0004 a0045c0030t0033	a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 others(142): Show a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 a0001c0010t0005g0277 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0140 a0002c0002t0002g0151 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0248 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0011g0222 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0021t0002g0245 a0002c0021t0002g0246 a0002c0058t0005g0214 a0002c0060t0002g0252 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0004c0004t0002g0042 a0004c0004t0002g0075 a0004c0004t0002g0095 a0004c0004t0002g0147 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0202 a0004c0004t0002g0218 a0004c0004t0002g0260 a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0020g0217 a0004c0004t0037g0062 a0004c0040t0002g0035 a0004c0051t0005g0023 a0005c0007t0002g0053 a0005c0007t0002g0240 a0005c0007t0005g0067 a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0007t0005g0137 a0005c0045t0003g0061 a0005c0046t0005g0159 a0005c0071t0005g0237 a0006c0005t0004g0148 a0006c0005t0004g0156 a0006c0005t0004g0158 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0005t0009g0283 a0006c0005t0013g0154 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0175 a0007c0006t0004g0176 a0007c0006t0004g0181 a0007c0006t0035g0163 a0007c0031t0004g0170 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0165 a0008c0008t0009g0271 a0008c0028t0034g0160 a0010c0018t0004g0157 a0010c0018t0004g0162 a0011c0012t0006g0256 a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 a0015c0024t0002g0120 a0015c0024t0012g0221 a0015c0042t0013g0041 a0016c0064t0005g0178 a0016c0065t0005g0150 a0018c0023t0002g0052 a0018c0023t0002g0127 a0019c0025t0002g0261 a0021c0016t0014g0019 a0021c0016t0014g0278 a0022c0015t0004g0145 a0022c0015t0004g0146 a0023c0039t0007g0012 a0024c0069t0002g0015 a0027c0047t0015g0025 a0031c0061t0002g0021 a0032c0057t0002g0220 a0033c0043t0011g0279 a0036c0055t0029g0174 a0037c0066t0012g0059 a0038c0038t0005g0024 a0039c0067t0028g0235 a0041c0029t0004g0026 a0042c0034t0004g0274 a0045c0030t0033g0192	145	284	0.5106	-17	c.452 others(34): Show c.4522+583_4522+599delTCTTCTCTTCTCTTTTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	46/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473614	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	269	0.0037	-17	c.81+ others(34): Show c.81+33409_81+33425delATATATATATATATATA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134800749	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	272	0.0037	-17	c.295 others(36): Show c.2953-1197_2953-1181delAAAAAAAAAAAAAAAAA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	37/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp2 HG02630.hp2 others(8): Show HG01361.hp1 HG01934.hp2 HG02630.hp2 HG02723.hp1 HG03130.hp1 HG03209.hp2 NA18959.hp2 NA18980.hp2 NA18987.hp2 NA19070.hp1 NA19081.hp1	a0002 a0009 a0010 others(5): Show a0002 a0009 a0010 a0016 a0031 a0032 a0043 a0070	a0002c0002 a0002c0020 a0009c0007 others(7): Show a0002c0002 a0002c0020 a0009c0007 a0010c0015 a0016c0036 a0031c0043 a0032c0085 a0032c0122 a0043c0061 a0070c0098	a0002c0002t0002 a0002c0020t0001 a0009c0007t0001 others(8): Show a0002c0002t0002 a0002c0020t0001 a0009c0007t0001 a0009c0007t0005 a0010c0015t0001 a0016c0036t0002 a0031c0043t0007 a0032c0085t0012 a0032c0122t0001 a0043c0061t0003 a0070c0098t0001	a0002c0002t0002g0342 a0002c0020t0001g0070 a0009c0007t0001g0240 others(8): Show a0002c0002t0002g0342 a0002c0020t0001g0070 a0009c0007t0001g0240 a0009c0007t0005g0230 a0010c0015t0001g0376 a0016c0036t0002g0148 a0031c0043t0007g0054 a0032c0085t0012g0146 a0032c0122t0001g0170 a0043c0061t0003g0260 a0070c0098t0001g0006	11	412	0.0267	-17	c.478 others(36): Show c.4782+1443_4782+1459delTTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970095	CTGAGTGG others(10): Show CTGAGTGGAGGCTGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG02071.hp2 HG02074.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0373 a0005c0005t0001g0071 a0001c0001t0001g0373 a0005c0005t0001g0071	2	412	0.0049	-17	c.393 others(34): Show c.3937-190_3937-174delCCCACAGCCTCCACTCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970447	AGTGGGGT others(10): Show AGTGGGGTCTGTGGGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(19): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02135.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19087.hp2	a0004 a0025 a0045 others(3): Show a0004 a0025 a0045 a0057 a0061 a0075	a0004c0010 a0004c0013 a0004c0108 others(5): Show a0004c0010 a0004c0013 a0004c0108 a0025c0031 a0045c0071 a0057c0141 a0061c0109 a0075c0091	a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 others(9): Show a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0025c0031t0001 a0025c0031t0004 a0045c0071t0004 a0057c0141t0002 a0061c0109t0004 a0075c0091t0004	a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 others(19): Show a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0045c0071t0004g0155 a0057c0141t0002g0067 a0061c0109t0004g0081 a0075c0091t0004g0014	22	412	0.0534	-17	c.393 others(34): Show c.3936+158_3936+174delACACCCACAGACCCCAC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981582	CCGCCCCG others(10): Show CCGCCCCGCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0031 a0001c0003t0006g0031	1	128	0.0078	-17	c.-26 others(26): Show c.-268_-252delCGCCCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		187		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981596	CCCTCCCG others(10): Show CCCTCCCGCCCCGCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	128	0.0078	-17	c.-25 others(26): Show c.-254_-238delCCTCCCGCCCCGCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		173		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46000641	AGGCCGGG others(10): Show AGGCCGGGGAAGGAGGGC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02922.hp1 others(3): Show HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp2 HG03471.hp2 NA19043.hp1	a0001 a0007 a0015 a0001 a0007 a0015	a0001c0010 a0001c0012 a0007c0036 others(1): Show a0001c0010 a0001c0012 a0007c0036 a0015c0027	a0001c0010t0005 a0001c0012t0005 a0007c0036t0005 others(1): Show a0001c0010t0005 a0001c0012t0005 a0007c0036t0005 a0015c0027t0005	a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 others(3): Show a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0007c0036t0005g0083 a0015c0027t0005g0076	6	128	0.0469	-17	c.181 others(33): Show c.1814-108_1814-92delAGGAGGGCGGCCGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	28/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46000651	AGGAGGGC others(10): Show AGGAGGGCGGCCGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0014 a0016 a0019 a0020	a0001c0001 a0001c0003 a0001c0007 others(23): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0018 a0001c0021 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0003c0028 a0004c0005 a0004c0030 a0005c0006 a0005c0023 a0005c0034 a0006c0011 a0008c0015 a0009c0014 a0010c0016 a0012c0033 a0013c0020 a0014c0025 a0016c0026 a0019c0032 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0015 a0001c0007t0001 a0001c0009t0002 a0001c0018t0001 a0001c0021t0002 a0001c0035t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0008t0001 a0002c0008t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0003c0028t0001 a0004c0005t0001 a0004c0030t0001 a0005c0006t0001 a0005c0023t0001 a0005c0034t0001 a0006c0011t0002 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0012c0033t0002 a0013c0020t0002 a0014c0025t0001 a0016c0026t0002 a0019c0032t0002 a0020c0013t0004	a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 others(95): Show a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0011g0125 a0001c0001t0016g0100 a0001c0003t0001g0115 a0001c0003t0002g0017 a0001c0003t0015g0105 a0001c0007t0001g0001 a0001c0007t0001g0063 a0001c0009t0002g0048 a0001c0009t0002g0086 a0001c0018t0001g0049 a0001c0021t0002g0093 a0001c0035t0002g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0051 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039 a0002c0002t0010g0123 a0002c0008t0001g0077 a0002c0008t0001g0112 a0002c0008t0004g0032 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0066 a0003c0004t0001g0070 a0003c0004t0001g0095 a0003c0004t0002g0091 a0003c0004t0002g0099 a0003c0004t0012g0064 a0003c0028t0001g0053 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 a0005c0034t0001g0068 a0006c0011t0002g0097 a0006c0011t0002g0110 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0012c0033t0002g0080 a0013c0020t0002g0002 a0014c0025t0001g0042 a0016c0026t0002g0116 a0019c0032t0002g0008 a0020c0013t0004g0018	99	128	0.7734	-17	c.181 others(33): Show c.1814-106_1814-90delGAGGGCGGCCGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	28/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237329053	CTTAATTT others(10): Show CTTAATTTATTTACTTAT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0032 a0032	a0032c0142 a0032c0142	a0032c0142t0002 a0032c0142t0002	a0032c0142t0002g0232 a0032c0142t0002g0232	1	322	0.0031	-17	c.932 others(36): Show c.9329-3346_9329-3330delATAAGTAAATAAATTAA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0011 a0011	a0011c0069 a0011c0069	a0011c0069t0002 a0011c0069t0002	a0011c0069t0002g0187 a0011c0069t0002g0187	1	322	0.0031	-17	c.766 others(34): Show c.7668+819_7668+835delTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362316	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 homoSapiens_chm13v2.hp1 NA18955.hp1 homoSapiens_chm13v2.hp1	a0004 a0083 a0004 a0083	a0004c0003 a0083c0046 a0004c0003 a0083c0046	a0004c0003t0002 a0083c0046t0007 a0004c0003t0002 a0083c0046t0007	a0004c0003t0002g0199 a0083c0046t0007g0033 a0004c0003t0002g0199 a0083c0046t0007g0033	2	292	0.0069	-17	c.-28 others(36): Show c.-28-11293_-28-11277delATATATATATTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03834.hp2 HG03688.hp1 HG03834.hp2	a0005 a0005	a0005c0003 a0005c0059 a0005c0003 a0005c0059	a0005c0003t0002 a0005c0059t0030 a0005c0003t0002 a0005c0059t0030	a0005c0003t0002g0098 a0005c0059t0030g0221 a0005c0003t0002g0098 a0005c0059t0030g0221	2	264	0.0076	-17	c.421 others(34): Show c.4219-746_4219-730delATATATTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590295	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 NA18946.hp2 HG02257.hp1 HG03453.hp1 NA18946.hp2	a0005 a0006 a0011 a0005 a0006 a0011	a0005c0003 a0006c0063 a0011c0008 a0005c0003 a0006c0063 a0011c0008	a0005c0003t0006 a0006c0063t0023 a0011c0008t0002 a0005c0003t0006 a0006c0063t0023 a0011c0008t0002	a0005c0003t0006g0088 a0006c0063t0023g0168 a0011c0008t0002g0034 a0005c0003t0006g0088 a0006c0063t0023g0168 a0011c0008t0002g0034	3	264	0.0114	-17	c.421 others(34): Show c.4219-744_4219-728delATATTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590297	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG03927.hp2 others(3): Show HG00558.hp2 HG01069.hp2 HG03927.hp2 NA18949.hp1 NA18951.hp2 NA19086.hp2	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0010 a0003c0013 a0005c0003 others(1): Show a0003c0010 a0003c0013 a0005c0003 a0011c0008	a0003c0010t0003 a0003c0013t0005 a0005c0003t0001 others(3): Show a0003c0010t0003 a0003c0013t0005 a0005c0003t0001 a0005c0003t0006 a0005c0003t0011 a0011c0008t0001	a0003c0010t0003g0261 a0003c0013t0005g0044 a0005c0003t0001g0005 others(3): Show a0003c0010t0003g0261 a0003c0013t0005g0044 a0005c0003t0001g0005 a0005c0003t0006g0174 a0005c0003t0011g0237 a0011c0008t0001g0173	6	264	0.0227	-17	c.421 others(34): Show c.4219-742_4219-726delATTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0007 a0006c0007t0007	a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0007t0007g0092 a0006c0007t0007g0093	2	264	0.0076	-17	c.421 others(34): Show c.4219-728_4219-712delTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40321119	AAAATTAT others(10): Show AAAATTATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18955.hp2 HG02109.hp2 NA18955.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0001 a0002c0002t0001 a0005c0004t0001	a0002c0002t0001g0002 a0005c0004t0001g0097 a0002c0002t0001g0002 a0005c0004t0001g0097	2	438	0.0046	-17	c.-39 others(28): Show c.-3939_-3923delATATATATATATAATTT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3834		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321124	TATATATA others(10): Show TATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03831.hp1 HG04115.hp1 HG02698.hp1 HG03831.hp1 HG04115.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0172 a0004c0003t0001g0192 a0001c0001t0001g0003 a0001c0001t0001g0172 a0004c0003t0001g0192	3	438	0.0069	-17	c.-39 others(28): Show c.-3944_-3928delTATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3839		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321126	TATATATA others(10): Show TATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	438	0.0023	-17	c.-39 others(28): Show c.-3946_-3930delTATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3841		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069624	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0074 a0001c0001t0008g0074	1	388	0.0026	-17	c.148 others(34): Show c.148+2197_148+2213delAAAAATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069626	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02615.hp2 others(5): Show HG01256.hp2 HG01258.hp1 HG02615.hp2 HG02698.hp1 HG03710.hp1 HG03927.hp1 NA19030.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0008 a0001c0001t0005g0193 a0001c0001t0005g0194 others(4): Show a0001c0001t0005g0008 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0199 a0001c0001t0019g0073	8	388	0.0206	-17	c.148 others(34): Show c.148+2199_148+2215delAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COMMD1_chr2_61900674_62141058	62002491	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	286	0.0035	-17	c.462 others(34): Show c.462+1526_462+1542delAAAAAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD6_chr13_75520214_75542841	75524456	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	396	0.0025	-17	c.21 others(28): Show c.2116_*2132delTTTTTTTTTTTTTTTTT	COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding		757		chr13	TogoVar
COMMD9_chr11_36267292_36294424	36286409	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp1 HG02717.hp2 others(6): Show HG00621.hp1 HG01928.hp1 HG02717.hp2 HG03130.hp2 HG03540.hp2 NA18972.hp1 NA19054.hp1 NA19091.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(6): Show a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0276 a0001c0001t0001g0286 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198	9	448	0.0201	-17	c.51+ others(32): Show c.51+2936_51+2952delCTTTCTTTCTTTCTTTT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMT_chr22_19936772_19974975	19952985	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(98): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0002c0001 a0002c0007 a0002c0012 a0004c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0025 a0001c0005t0004 a0001c0009t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0002c0001t0010 a0002c0001t0013 a0002c0001t0019 a0002c0001t0026 a0002c0007t0002 a0002c0012t0001 a0004c0010t0001	a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0070 others(90): Show a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0070 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0002g0090 a0001c0002t0003g0053 a0001c0002t0003g0112 a0001c0003t0001g0146 a0001c0003t0002g0065 a0001c0003t0002g0113 a0001c0003t0003g0211 a0001c0003t0004g0072 a0001c0003t0005g0089 a0001c0003t0025g0212 a0001c0005t0004g0111 a0001c0005t0004g0135 a0001c0009t0006g0213 a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0026 a0002c0001t0001g0046 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0054 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0085 a0002c0001t0001g0091 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0118 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0152 a0002c0001t0001g0216 a0002c0001t0001g0273 a0002c0001t0001g0282 a0002c0001t0001g0287 a0002c0001t0001g0300 a0002c0001t0001g0324 a0002c0001t0001g0352 a0002c0001t0001g0377 a0002c0001t0002g0098 a0002c0001t0002g0141 a0002c0001t0002g0218 a0002c0001t0003g0008 a0002c0001t0004g0283 a0002c0001t0006g0007 a0002c0001t0006g0130 a0002c0001t0010g0133 a0002c0001t0013g0223 a0002c0001t0019g0116 a0002c0001t0026g0144 a0002c0007t0002g0117 a0002c0012t0001g0127 a0004c0010t0001g0071 a0004c0010t0001g0077 a0004c0010t0001g0078	101	426	0.2371	-17	c.-91 others(34): Show c.-91-8211_-91-8195delATAAATAAATAAATAAA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	176109009	GGCTGAGG others(10): Show GGCTGAGGCTGGAGAATC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	300	0.0033	-17	c.102 others(36): Show c.1026+7598_1026+7614delGATTCTCCAGCCTCAGC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	9/19			chr1	TogoVar
COPA_chr1_160283594_160348250	160318475	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02109.hp1 HG02257.hp2 others(22): Show HG00438.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG03130.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18951.hp2 NA18991.hp2 NA19043.hp2 NA19057.hp1 NA19068.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0002c0003t0006 a0001c0001t0003 a0001c0001t0007 a0002c0003t0006	a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 others(18): Show a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0007g0184 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192 a0002c0003t0006g0193 a0002c0003t0006g0195 a0002c0003t0006g0196 a0002c0003t0006g0197 a0002c0003t0006g0199	25	366	0.0683	-17	c.707 others(34): Show c.707-4367_707-4351delGTTTTTTTTTTTTTTTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	8/32			chr1	TogoVar
COPE_chr19_18894514_18924387	18900164	ATGGTGGG others(10): Show ATGGTGGGGGATGTATTG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0194	1	330	0.0030	-17	c.804 others(32): Show c.804+200_804+216delCAATACATCCCCCACCA	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	8/9			chr19	TogoVar
COPS4_chr4_83030183_83080818	83064869	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0331	1	372	0.0027	-17	c.887 others(34): Show c.887-1554_887-1538delTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS5_chr8_67038079_67067133	67056649	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18962.hp1 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0135 a0001c0001t0001g0142	2	292	0.0069	-17	c.574 others(30): Show c.574-62_574-46delATATATATATATATTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056651	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03927.hp2 HG02135.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0053 a0001c0001t0001g0136	2	292	0.0069	-17	c.574 others(30): Show c.574-64_574-48delATATATATATATATATT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19000.hp1 NA19000.hp2 others(1): Show HG01261.hp2 NA19000.hp1 NA19000.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0165 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0165 a0001c0001t0001g0224	4	292	0.0137	-17	c.574 others(30): Show c.574-66_574-50delATATATATATATATATA	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPZ1_chr12_54320131_54356846	54326961	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp2 HG02965.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0072 a0001c0001t0002g0205 a0001c0001t0001g0072 a0001c0001t0002g0205	2	368	0.0054	-17	c.18+ others(32): Show c.18+1801_18+1817delTTTTTTTTTTTTTTTTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COQ3_chr6_99364401_99399195	99385989	AAAAAGAA others(10): Show AAAAAGAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04199.hp2 HG01109.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0129 a0001c0001t0001g0093 a0001c0001t0001g0129	2	434	0.0046	-17	c.107 others(34): Show c.107-2182_107-2166delCTTTTTTCTTTTCTTTT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	1/6			chr6	TogoVar
COQ3_chr6_99364401_99399195	99396144	CTTGGGAG others(10): Show CTTGGGAGGCTGAGGTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	434	0.0023	-17	c.-19 others(28): Show c.-1982_-1966delCCACCTCAGCCTCCCAA	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding		1950		chr6	TogoVar
COQ5_chr12_120498279_120534158	120526698	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	388	0.0026	-17	c.202 others(34): Show c.202+2225_202+2241delAAAAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG01169.hp1 others(10): Show HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01891.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG03098.hp1 HG03139.hp1 NA18967.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0131 others(9): Show a0001c0001t0001g0022 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0334	13	388	0.0335	-17	c.202 others(32): Show c.202+935_202+951delTTTTTTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ6_chr14_73945302_73968670	73968291	CTTCAGAA others(10): Show CTTCAGAATTTTAGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0116	1	456	0.0022	-17	c.52 others(28): Show c.5293_*5309delTTCAGAATTTTAGGGGT	COQ6	ENSG00000119723.17	transcript	ENST00000334571.7	protein_coding		4622		chr14	TogoVar
COQ8A_chr1_226935294_226992544	226983950	CAGAGGGC others(10): Show CAGAGGGCTGGGGTTGCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0254 a0001c0010t0010g0254	1	412	0.0024	-17	c.125 others(33): Show c.1256+97_1256+113delAGAGGGCTGGGGTTGCA	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	10/14			chr1	TogoVar
COQ8A_chr1_226935294_226992544	226989397	GCCACCAG others(10): Show GCCACCAGTTCAGGAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	1	412	0.0024	-17	c.26 others(28): Show c.2661_*2677delCCACCAGTTCAGGAGTT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding		1854		chr1	TogoVar
COQ9_chr16_57442479_57466270	57453210	CTAAGATG others(10): Show CTAAGATGCCATTGGTTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	404	0.0025	-17	c.378 others(32): Show c.378+280_378+296delTGCCATTGGTTGTAAGA	COQ9	ENSG00000088682.14	transcript	ENST00000262507.11	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORO2A_chr9_98115975_98197637	98154339	ATATATAT others(10): Show ATATATATATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0177	1	342	0.0029	-17	c.201 others(34): Show c.201+3104_201+3120delGTGTATATATATATATA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CPA6_chr8_67417038_67751360	67733208	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18952.hp2 NA18981.hp2 HG00423.hp2 NA18952.hp2 NA18981.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0004c0005t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0004c0005t0001g0117	3	144	0.0208	-17	c.116 others(36): Show c.116+12789_116+12805delATTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar

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