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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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
CHRDL1_chrX_110668856_110800817	110689624	ATATATCT others(28): Show ATATATCTATATATCTATATATATCTATATATCATC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp2 HG02895.hp1 others(3): Show HG01106.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007	a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 others(3): Show a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0078 a0001c0002t0004g0038 a0001c0002t0007g0165	6	172	0.0349	-35	c.779 others(50): Show c.779-856_779-822delGATGATATATAGATATATATAGATATATAG ATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRNA7_chr15_32025515_32178018	32170436	TTTTTTCT others(28): Show TTTTTTCTGTTACAGTGTCTTTAGAAACAAGTAGAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG03471.hp1 HG03486.hp1 others(2): Show HG01169.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0040 a0001c0006t0034 a0001c0011t0026 others(1): Show a0001c0001t0040 a0001c0006t0034 a0001c0011t0026 a0001c0011t0048	a0001c0001t0040g0084 a0001c0006t0034g0247 a0001c0011t0026g0209 others(2): Show a0001c0001t0040g0084 a0001c0006t0034g0247 a0001c0011t0026g0209 a0001c0011t0026g0211 a0001c0011t0048g0119	5	307	0.0163	-35	c.19 others(46): Show c.1979_*2013delTTTTTCTGTTACAGTGTCTTTAGAAACAAGTAGA A	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	10/10	1979		chr15	TogoVar
CHRND_chr2_232521160_232541664	232531264	GGGACCCT others(28): Show GGGACCCTCTAGGACCGGTGCCCCAAGGTCACAGCT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01106.hp1 others(59): Show HG00438.hp2 HG00639.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01358.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18947.hp2 NA18966.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19057.hp1 NA19063.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0002 a0007c0009 others(1): Show a0001c0001 a0001c0002 a0007c0009 a0010c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0002 a0007c0009t0001 a0010c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0004g0097 a0001c0001t0008g0069 a0001c0002t0002g0010 a0001c0002t0002g0122 a0001c0002t0002g0123 a0007c0009t0001g0060 a0010c0008t0001g0068	62	438	0.1416	-35	c.821 others(48): Show c.821-52_821-18delGGACCCTCTAGGACCGGTGCCCCAAGGTCACA GCT	CHRND	ENSG00000135902.10	transcript	ENST00000258385.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CHST12_chr7_2398611_2453484	2452532	GCCCTGCC others(28): Show GCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01361.hp2 others(2): Show HG00423.hp1 HG00673.hp1 HG01361.hp2 HG02071.hp1 HG04204.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0210 a0001c0001t0211 a0001c0001t0215 others(2): Show a0001c0001t0210 a0001c0001t0211 a0001c0001t0215 a0001c0001t0271 a0004c0004t0231	a0001c0001t0210g0248 a0001c0001t0211g0239 a0001c0001t0215g0258 others(2): Show a0001c0001t0210g0248 a0001c0001t0211g0239 a0001c0001t0215g0258 a0001c0001t0271g0086 a0004c0004t0231g0001	5	344	0.0145	-35	c.18 others(48): Show c.18649_*18683delCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCC CTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4049		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452537	GCCCTGCC others(28): Show GCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0293 a0001c0001t0293	a0001c0001t0293g0109 a0001c0001t0293g0109	1	344	0.0029	-35	c.18 others(48): Show c.18654_*18688delCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCC CTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4054		chr7	TogoVar
CHST5_chr16_75523530_75541108	75539664	TTGACCAG others(28): Show TTGACCAGAGATGGGACTCTTTCCAAGATGTCTGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-35	c.-52 others(46): Show c.-5290_-5256delTTCAGACATCTTGGAAAGAGTCCCATCTCTGGTC A	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		3557		chr16	TogoVar
CHST8_chr19_33616953_33778506	33650501	CTTTTTCT others(28): Show CTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02683.hp2 HG00323.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0253 a0001c0001t0002g0047 a0001c0001t0001g0253 a0001c0001t0002g0047	2	254	0.0079	-35	c.-16 others(56): Show c.-163-17260_-163-17226delCTTTTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757383	AAAAGAAG others(28): Show AAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03491.hp1 HG00639.hp2 HG03491.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0105 a0002c0007t0001g0227 a0001c0001t0001g0105 a0002c0007t0001g0227	2	254	0.0079	-35	c.131 others(54): Show c.131-14023_131-13989delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	27104203	TCCTTCCA others(28): Show TCCTTCCAAGCTTATCTTATAAATTGCAACAGATGG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02965.hp2 HG02622.hp1 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0029 a0001c0001t0076 a0001c0001t0003 a0001c0001t0029 a0001c0001t0076	a0001c0001t0003g0084 a0001c0001t0029g0021 a0001c0001t0076g0023 a0001c0001t0003g0084 a0001c0001t0029g0021 a0001c0001t0076g0023	3	262	0.0115	-35	c.121 others(54): Show c.121+38451_121+38485delCCATCTGTTGCAATTTATAAGATAAG CTTGGAAGG	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CILK1_chr6_52996303_53066824	53037260	AAGGGGCA others(28): Show AAGGGGCAGGGGGAAAGGAGGAGAATAATGAATCCC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	244	0.0041	-35	c.156 others(50): Show c.156+644_156+678delGGGATTCATTATTCTCCTCCTTTCCCCCTG CCCCT	CILK1	ENSG00000112144.16	transcript	ENST00000676107.1	protein_coding	3/13			chr6	TogoVar
CIR1_chr2_174343022_174400712	174354583	ATATATAT others(28): Show ATATATATCATATAATATATATTATATTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG03225.hp1 others(1): Show HG02630.hp1 HG02896.hp2 HG03225.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0017 a0002c0002t0003g0237 a0002c0002t0003g0238	4	348	0.0115	-35	c.485 others(52): Show c.485-2893_485-2859delAAATATATAATATAATATATATTATATG ATATATA	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33549040	AGCCACCA others(28): Show AGCCACCACACCCAGGTGTTGGGATTACAGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG03098.hp1 others(3): Show HG02451.hp2 HG02809.hp2 HG03098.hp1 HG03209.hp2 HG04204.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 a0001c0001 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0001t0001 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0008t0001g0002 a0001c0008t0001g0004 a0001c0010t0001g0003	6	278	0.0216	-35	c.315 others(54): Show c.3153+2177_3153+2211delACACACCTGTAATCCCAACACCTGGG TGTGGTGGC	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	30/38			chr3	TogoVar
CLCN7_chr16_1439935_1480028	1459510	TCAGGGAA others(28): Show TCAGGGAAGGGGAGCTCAGCACACACTTCGGGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(45): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03831.hp2 NA18522.hp1 NA18906.hp2 NA18954.hp1 NA18955.hp1 NA18991.hp2 NA19054.hp1 NA19056.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0007 a0001c0015 others(3): Show a0001c0005 a0001c0007 a0001c0015 a0002c0006 a0002c0026 a0003c0021	a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 others(13): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0011 a0001c0007t0003 a0001c0007t0040 a0001c0015t0028 a0001c0015t0046 a0002c0006t0010 a0002c0006t0024 a0002c0006t0025 a0002c0006t0026 a0002c0006t0051 a0002c0006t0052 a0002c0026t0024 a0003c0021t0013	a0001c0005t0001g0179 a0001c0005t0001g0183 a0001c0005t0001g0190 others(43): Show a0001c0005t0001g0179 a0001c0005t0001g0183 a0001c0005t0001g0190 a0001c0005t0004g0037 a0001c0005t0004g0153 a0001c0005t0004g0164 a0001c0005t0004g0165 a0001c0005t0004g0166 a0001c0005t0004g0167 a0001c0005t0004g0168 a0001c0005t0004g0180 a0001c0005t0004g0181 a0001c0005t0004g0182 a0001c0005t0004g0184 a0001c0005t0004g0185 a0001c0005t0004g0186 a0001c0005t0004g0193 a0001c0005t0004g0265 a0001c0005t0004g0267 a0001c0005t0004g0272 a0001c0005t0004g0273 a0001c0005t0004g0274 a0001c0005t0004g0280 a0001c0005t0005g0102 a0001c0005t0005g0187 a0001c0005t0005g0188 a0001c0005t0011g0008 a0001c0007t0003g0191 a0001c0007t0003g0192 a0001c0007t0040g0176 a0001c0015t0028g0021 a0001c0015t0046g0385 a0002c0006t0010g0010 a0002c0006t0010g0255 a0002c0006t0010g0256 a0002c0006t0010g0257 a0002c0006t0010g0258 a0002c0006t0024g0263 a0002c0006t0025g0260 a0002c0006t0025g0266 a0002c0006t0026g0261 a0002c0006t0026g0262 a0002c0006t0051g0259 a0002c0006t0052g0264 a0002c0026t0024g0309 a0003c0021t0013g0189	48	404	0.1188	-35	c.595 others(50): Show c.595-358_595-324delGGGCCCCGAAGTGTGTGCTGAGCTCCCCTT CCCTG	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	6/24			chr16	TogoVar
CLHC1_chr2_55167547_55237293	55169024	CCTCTAAA others(28): Show CCTCTAAAACCCAGAAACTACCATAATTATATCAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0218 a0002c0001t0001g0218	1	404	0.0025	-35	c.67 others(46): Show c.6731_*6765delTTTGATATAATTATGGTAGTTTCTGGGTTTTAGA G	CLHC1	ENSG00000162994.16	transcript	ENST00000401408.6	protein_coding		3522		chr2	TogoVar
CLIP1_chr12_122266469_122427669	122387558	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0030 a0001c0001t0025g0030	1	234	0.0043	-35	c.-10 others(54): Show c.-106-7035_-106-7001delAAATATATATATATATATATATATAT ATATATATA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95245190	ATATAATA others(28): Show ATATAATATATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG06807.hp2 others(1): Show HG02630.hp2 HG02886.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0001g0168 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0005g0270	4	276	0.0145	-35	c.83- others(52): Show c.83-15092_83-15058delATATATATATATATATAATATATATATA TATTATA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMN_chr14_95176940_95324908	95245252	ATAATATA others(28): Show ATAATATATATATATATATTATATATATATAGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	276	0.0036	-35	c.83- others(52): Show c.83-15154_83-15120delAAAACTATATATATATAATATATATATA TATATTA	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLN8_chr8_1758789_1791570	1763609	CCCCCCGC others(28): Show CCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 NA18953.hp1 HG01081.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0114 a0001c0001t0001g0017 a0001c0001t0001g0114	2	413	0.0048	-35	c.-39 others(44): Show c.-399_-365delCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		179		chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1333662	GCTGAGGA others(28): Show GCTGAGGATAAGGGGGGACTACTGTAGACACACCGC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	370	0.0027	-35	c.891 others(50): Show c.891+592_891+626delGCGGTGTGTCTACAGTAGTCCCCCCTTATC CTCAG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLUH_chr17_2684387_2716764	2691924	CCCCCGTG others(28): Show CCCCCGTGCCCCCGCGGCCCCGCCCCCGCCCCGCCA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	420	0.0024	-35	c.365 others(50): Show c.3654+45_3655-30delTGGCGGGGCGGGGGCGGGGCCGCGGGGGCA CGGGG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLYBL_chr13_99601690_99897570	99873641	CCCAAACA others(28): Show CCCAAACATAAAGGTATAGCTGAAGTTCACAGTTAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01071.hp1 others(3): Show HG00280.hp1 HG01069.hp2 HG01071.hp1 HG02602.hp1 HG04204.hp1 NA20752.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0001 a0001c0001t0001 a0009c0012t0001	a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0173 a0001c0001t0001g0213 a0009c0012t0001g0144	6	218	0.0275	-35	c.927 others(52): Show c.927+2615_927+2649delCCAAACATAAAGGTATAGCTGAAGTTCA CAGTTAG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMKLR1_chr12_108283046_108344311	108335093	GGAAATGT others(28): Show GGAAATGTAGACTTAGAATCAAAGAATGGAAGCAAC	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0381 a0001c0001t0064g0381	1	400	0.0025	-35	c.-28 others(54): Show c.-287+3899_-287+3933delGTTGCTTCCATTCTTTGATTCTAAGT CTACATTTC	CMKLR1	ENSG00000174600.14	transcript	ENST00000550402.6	protein_coding	1/3			chr12	TogoVar
CNN2_chr19_1021608_1044065	1034443	ACGGGGAG others(28): Show ACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0065 a0003c0012t0005g0065	1	390	0.0026	-35	c.391 others(52): Show c.391-1683_391-1649delGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGG	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT4_chr7_135356795_135515102	135495687	AAAAAAAG others(28): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	362	0.0028	-35	c.-93 others(54): Show c.-93+14167_-93+14201delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT9_chr2_218563839_218602080	218563851	CGAGACCA others(28): Show CGAGACCAGCCTGGCCAATGTGGTCTCGAACACATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0164 a0001c0001t0009g0164	1	322	0.0031	-35	c.-51 others(46): Show c.-5103_-5069delGAGACCAGCCTGGCCAATGTGGTCTCGAACACAT T	CNOT9	ENSG00000144580.15	transcript	ENST00000273064.11	protein_coding		4987		chr2	TogoVar
CNTN1_chr12_40687439_41077415	40690769	ATTATTTT others(28): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01123.hp1 HG00735.hp2 HG01099.hp2 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0002t0001 a0001c0001t0001 a0001c0001t0024 a0001c0002t0001	a0001c0001t0001g0206 a0001c0001t0024g0167 a0001c0002t0001g0116 a0001c0001t0001g0206 a0001c0001t0024g0167 a0001c0002t0001g0116	3	230	0.0130	-35	c.-18 others(46): Show c.-1899_-1865delTTATTTTATTTTATTTTATTTTATTTTATTTTAT T	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding		1669		chr12	TogoVar
CNTN6_chr3_1088024_1409217	1245247	TATATATA others(28): Show TATATATATAACATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0219 a0001c0003t0001g0219	1	232	0.0043	-35	c.358 others(54): Show c.358+17264_358+17298delACATATATATATATATATACACACAC ATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146285720	CCTCCCTT others(28): Show CCTCCCTTCCCCTCCCCTCGCCTCCTCTCCGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03139.hp1 HG02896.hp2 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0003 a0001c0008t0001 a0001c0004t0003 a0001c0008t0001	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0008t0001g0025 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0008t0001g0025	3	40	0.0750	-35	c.97+ others(54): Show c.97+168748_97+168782delCTCCCTTCCCCTCCCCTCGCCTCCTC TCCGCTCCT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147083979	CATATATG others(28): Show CATATATGTATATATAATACATATATACATAATGCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0001t0001g0038 a0001c0001t0012g0034	2	40	0.0500	-35	c.551 others(54): Show c.551-24142_551-24108delACATAATGCTATATATGTATATATAA TACATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147084005	ACATAATG others(28): Show ACATAATGCTATATATGTATATATAATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	40	0.0250	-35	c.551 others(54): Show c.551-23870_551-23836delACATATATGCATAATGCTATATATGT ATATATAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147575247	GTGTGTGT others(28): Show GTGTGTGTGTATTCCCTAGCTTTAGGAGTACGCATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	-35	c.189 others(56): Show c.1897+13000_1897+13034delATTCCCTAGCTTTAGGAGTACGCA TATGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148182344	CATGTTTG others(28): Show CATGTTTGGCTGCCCTGCAAGCAGGTCCATTCACCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02630.hp1 others(8): Show HG01891.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03540.hp1 NA20129.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0004c0014 a0005c0020	a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0020 a0001c0004t0005 a0001c0005t0008 a0001c0006t0009 a0001c0012t0004 a0004c0014t0021 a0005c0020t0005	a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0002g0013 others(8): Show a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0002t0010g0002 a0001c0003t0020g0017 a0001c0004t0005g0004 a0001c0005t0008g0005 a0001c0006t0009g0028 a0001c0012t0004g0026 a0004c0014t0021g0022 a0005c0020t0005g0016	11	40	0.2750	-35	c.301 others(54): Show c.3010+9868_3010+9902delTGTTTGGCTGCCCTGCAAGCAGGTCC ATTCACCAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0005 a0018c0029t0005	a0018c0029t0005g0077 a0018c0029t0005g0077	1	274	0.0037	-35	c.275 others(52): Show c.2755+488_2755+522delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124465357	TTGACCAC others(28): Show TTGACCACTAAGATCAATGAAAGGCACACCATTCAA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18906.hp2 NA19043.hp2 HG03704.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0002c0004t0001 a0001c0001t0001 a0001c0001t0004 a0002c0004t0001	a0001c0001t0001g0026 a0001c0001t0004g0053 a0002c0004t0001g0001 a0001c0001t0001g0026 a0001c0001t0004g0053 a0002c0004t0001g0001	3	64	0.0469	-35	c.919 others(52): Show c.919-9355_919-9321delACCATTCAATGACCACTAAGATCAATGA AAGGCAC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45470926	CCTGCTGG others(28): Show CCTGCTGGGCGTGGGTGGCGTGCAGCAGGCCGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0099 a0004c0099	a0004c0099t0003 a0004c0099t0003	a0004c0099t0003g0030 a0004c0099t0003g0030	1	292	0.0034	-35	c.651 others(52): Show c.651+2160_651+2194delTGCAGCAGGCCGTGTGCTGCTGGGCGTG GGTGGCG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45471061	TTGTGCTG others(28): Show TTGTGCTGCTGGGCCTGGGTGGCGCGCTACGGGCCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00642.hp1 others(9): Show HG00099.hp1 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG01192.hp2 HG01978.hp2 HG02132.hp1 HG03927.hp2 NA18747.hp2 NA18964.hp1 NA18998.hp2 NA19060.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0029 a0033 a0034 a0035	a0001c0013 a0006c0072 a0007c0034 others(5): Show a0001c0013 a0006c0072 a0007c0034 a0007c0076 a0029c0071 a0033c0077 a0034c0075 a0035c0078	a0001c0013t0002 a0001c0013t0014 a0006c0072t0002 others(6): Show a0001c0013t0002 a0001c0013t0014 a0006c0072t0002 a0007c0034t0001 a0007c0076t0002 a0029c0071t0002 a0033c0077t0003 a0034c0075t0001 a0035c0078t0001	a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 others(9): Show a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 a0001c0013t0014g0210 a0006c0072t0002g0082 a0007c0034t0001g0141 a0007c0034t0001g0282 a0007c0076t0002g0281 a0029c0071t0002g0134 a0033c0077t0003g0098 a0034c0075t0001g0116 a0035c0078t0001g0115	12	292	0.0411	-35	c.651 others(52): Show c.651+2300_651+2334delGCTACGGGCCGTGTGCTGCTGGGCCTGG GTGGCGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101437412	GGGGCGGA others(28): Show GGGGCGGAGTTCTGAATGCTGGTGGAATTCTGAATC	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03130.hp1 HG02897.hp2 HG03130.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0019 a0001c0001 a0007c0019	a0001c0001t0011 a0007c0019t0028 a0001c0001t0011 a0007c0019t0028	a0001c0001t0011g0108 a0007c0019t0028g0162 a0001c0001t0011g0108 a0007c0019t0028g0162	2	174	0.0115	-35	c.282 others(54): Show c.282-10254_282-10220delCTGGTGGAATTCTGAATCGGGCGGAG TTCTGAATG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL2A1_chr12_47967967_48009476	47971707	TTTGTATA others(28): Show TTTGTATAATATATGTATATATTATTATATTGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0104 a0003c0009t0002g0104	1	414	0.0024	-35	c.16 others(46): Show c.1665_*1699delTATACAATATAATAATATATACATATATTATACA A	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1259		chr12	TogoVar
COL4A4_chr2_226997714_227169205	227041792	GAAAGAAA others(28): Show GAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0006 a0011c0012t0006	a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0012t0006g0256 a0011c0012t0006g0257	2	284	0.0070	-35	c.350 others(52): Show c.3505+321_3505+355delTTTCTTTCTTTCTTTCTTTCTTCCTTTC TTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134657465	GGTGTAGT others(28): Show GGTGTAGTTTATAGATAATATGGGGGTGGGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	272	0.0037	-35	c.109 others(54): Show c.109+15204_109+15238delAGTGTAGTTTATAGATAATATGGGGG TGGGGTGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669212	TTTCCCTT others(28): Show TTTCCCTTCCCTTCCCTTCCCTTTCCTTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02717.hp1 HG02965.hp2 others(4): Show HG00673.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0024 a0001c0039	a0001c0001t0007 a0001c0002t0005 a0001c0003t0004 others(4): Show a0001c0001t0007 a0001c0002t0005 a0001c0003t0004 a0001c0004t0004 a0001c0007t0014 a0001c0024t0001 a0001c0039t0004	a0001c0001t0007g0248 a0001c0002t0005g0025 a0001c0003t0004g0262 others(4): Show a0001c0001t0007g0248 a0001c0002t0005g0025 a0001c0003t0004g0262 a0001c0004t0004g0224 a0001c0007t0014g0044 a0001c0024t0001g0207 a0001c0039t0004g0197	7	272	0.0257	-35	c.110 others(54): Show c.110-21677_110-21643delTCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828896	CCACACAC others(28): Show CCACACACACAGCATACACAGATACACACCACTCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show HG02145.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0025	a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 others(1): Show a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 a0001c0025t0015	a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 others(1): Show a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 a0001c0025t0015g0007	4	272	0.0147	-35	c.506 others(54): Show c.5068-1068_5068-1034delCATACACAGATACACACCACTCATCA CACACACAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970406	GGGGTGAG others(28): Show GGGGTGAGTGGGGGCTGTAAGGTGAGTGGGGTCTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02004.hp1 HG02809.hp2 others(13): Show HG00642.hp1 HG02004.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0005 a0006 a0007 others(2): Show a0005 a0006 a0007 a0026 a0046	a0005c0029 a0006c0055 a0007c0021 others(4): Show a0005c0029 a0006c0055 a0007c0021 a0007c0032 a0026c0056 a0026c0086 a0046c0075	a0005c0029t0001 a0006c0055t0002 a0007c0021t0008 others(5): Show a0005c0029t0001 a0006c0055t0002 a0007c0021t0008 a0007c0032t0007 a0007c0032t0008 a0026c0056t0002 a0026c0086t0002 a0046c0075t0007	a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 others(12): Show a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 a0006c0055t0002g0305 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0007g0114 a0007c0032t0008g0037 a0007c0032t0008g0128 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0046c0075t0007g0053	16	412	0.0388	-35	c.393 others(52): Show c.3936+181_3936+215delACAGACCCCACTCACCTTACAGCCCCCA CTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977824	GAGAGGAG others(28): Show GAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00733.hp1 others(10): Show HG00544.hp1 HG00642.hp1 HG00733.hp1 HG01123.hp2 HG01192.hp1 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02602.hp1 HG03927.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0002c0008 others(1): Show a0001c0003 a0002c0002 a0002c0008 a0003c0028	a0001c0003t0001 a0002c0002t0001 a0002c0002t0008 others(2): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0008 a0002c0008t0001 a0003c0028t0001	a0001c0003t0001g0115 a0002c0002t0001g0011 a0002c0002t0001g0052 others(10): Show a0001c0003t0001g0115 a0002c0002t0001g0011 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0078 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0008g0051 a0002c0008t0001g0077 a0003c0028t0001g0053	13	128	0.1016	-35	c.-40 others(46): Show c.-4026_-3992delAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAG A	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3945		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45990025	CGGAGCCG others(28): Show CGGAGCCGGGGGTCCCCCGGGCGGTTACCCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0117 a0002c0002t0008g0117	1	128	0.0078	-35	c.931 others(50): Show c.931-231_931-197delGAGCCGGGGGTCCCCCGGGCGGTTACCCTC TGCGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	11/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp2 HG02486.hp2 HG00438.hp1 HG01074.hp2 HG02486.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0009 a0003c0105 a0001c0004 a0002c0009 a0003c0105	a0001c0004t0002 a0002c0009t0001 a0003c0105t0001 a0001c0004t0002 a0002c0009t0001 a0003c0105t0001	a0001c0004t0002g0229 a0002c0009t0001g0097 a0003c0105t0001g0073 a0001c0004t0002g0229 a0002c0009t0001g0097 a0003c0105t0001g0073	3	322	0.0093	-35	c.766 others(52): Show c.7668+801_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COTL1_chr16_84560596_84623078	84590677	CCAGCCAA others(28): Show CCAGCCAAAAAAAATTTAAAAATAAAAATTTAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	440	0.0023	-35	c.161 others(50): Show c.161-450_161-416delTTTTTAAATTTTTATTTTTAAATTTTTTTT GGCTG	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	2/3			chr16	TogoVar
CPED1_chr7_120983711_121302442	121047680	TTCTTCTT others(28): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	140	0.0071	-35	c.540 others(50): Show c.540+689_540+723delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89595979	GAGACGCA others(28): Show GAGACGCACAGCACACACGTGAGGTTCTACCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp1 HG03516.hp1 others(1): Show HG02055.hp1 HG03486.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185	4	348	0.0115	-35	c.153 others(52): Show c.1539+381_1539+415delGCACAGCACACACGTGAGGTTCTACCAG GCAAGAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38909502	ACCTTGGA others(28): Show ACCTTGGAAGGAGCCTGACCCTGGAACACCTTGATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	342	0.0029	-35	c.-40 others(46): Show c.-4003_-3969delAATCAAGGTGTTCCAGGGTCAGGCTCCTTCCAAG G	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding		3912		chr12	TogoVar

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