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
CHID1_chr11_862859_915810	896911	C C	CCCCAGAC others(34): Show CCCCAGACACAACGAGCCTGTCTCAGCACCCCCAGCCTCCAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	386	0.0026	41	c.608 others(58): Show c.608+2428_608+2429insATGGAGGCTGGGGGTGCTGAGACAGGCT CGTTGTGTCTGGG	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
CHKB_chr22_50573963_50587849	50575083	G G	GGCTCATT others(34): Show GGCTCATTTCAAGCTCCACCTCCCGGGTTCACGCCATTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	41	c.40 others(52): Show c.4057_*4097dupGGCAAATGGCGTGAACCCGGGAGGTGGAGCTTGA AATGAGC	CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding		3879		chr22	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	392	0.0026	41	c.18 others(52): Show c.1840_*1841insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		489		chr16	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393870	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	133	0.0075	41	c.-77 others(50): Show c.-776_-775insCACACATAGACACACACACACACACACACACACACA CACAC	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		331		chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32073976	T T	TTCCTTCT others(34): Show TTCCTTCTTCCTGTTCCCATTTTCTCCCTTCCTTCATTGTCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp2 NA19091.hp2 NA18981.hp1 NA18981.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0302 a0001c0002t0002g0300 a0001c0001t0001g0022 a0001c0001t0001g0302 a0001c0002t0002g0300	3	307	0.0098	41	c.196 others(60): Show c.196-27292_196-27252dupATTGTCCTCCTTCTTCCTGTTCCCAT TTTCTCCCTTCCTTC	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNE_chr17_4892771_4908098	4907704	T T	TCATGTAT others(34): Show TCATGTATAAACAATACATCACACACACACCCCATAACATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0076 a0001c0001t0052g0076	1	446	0.0022	41	c.-46 others(52): Show c.-4642_-4641insCTATGTTATGGGGTGTGTGTGTGATGTATTGTTT ATACATG	CHRNE	ENSG00000108556.10	transcript	ENST00000649488.2	protein_coding		4607		chr17	TogoVar
CHST15_chr10_124002668_124098598	124016147	C C	CAGGGCCG others(34): Show CAGGGCCGTCCTCTAGGTGTAGGGTAGGTGTCTAGGGTAGGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	392	0.0026	41	c.134 others(60): Show c.1348-3668_1348-3667insACCTACCCTAGACACCTACCCTACAC CTAGAGGACGGCCCT	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	6/7			chr10	TogoVar
CHSY3_chr5_129899465_130191634	130039454	G G	GCACTCTA others(34): Show GCACTCTAGCCTGGGTGACAGAGCAATAGCAAGACCCTGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp1 others(62): Show HG00099.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02965.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19079.hp1 NA19082.hp2 NA19089.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0008 others(7): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0002c0003 a0002c0005 a0003c0004 a0003c0006 a0005c0010 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0014 a0001c0008t0001 a0001c0015t0001 a0002c0003t0005 a0002c0005t0001 a0003c0004t0004 a0003c0006t0003 a0005c0010t0003 a0008c0013t0003	a0001c0001t0001g0231 a0001c0001t0002g0144 a0001c0001t0002g0145 others(62): Show a0001c0001t0001g0231 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0184 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0273 a0001c0002t0014g0021 a0001c0002t0014g0024 a0001c0008t0001g0033 a0001c0008t0001g0034 a0001c0008t0001g0048 a0001c0008t0001g0062 a0001c0015t0001g0054 a0002c0003t0005g0233 a0002c0005t0001g0027 a0002c0005t0001g0029 a0002c0005t0001g0039 a0002c0005t0001g0049 a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0055 a0002c0005t0001g0061 a0002c0005t0001g0069 a0003c0004t0004g0030 a0003c0004t0004g0173 a0003c0004t0004g0235 a0003c0004t0004g0237 a0003c0004t0004g0238 a0003c0004t0004g0239 a0003c0006t0003g0025 a0003c0006t0003g0026 a0003c0006t0003g0038 a0003c0006t0003g0040 a0003c0006t0003g0041 a0003c0006t0003g0042 a0003c0006t0003g0043 a0003c0006t0003g0059 a0003c0006t0003g0072 a0003c0006t0003g0112 a0005c0010t0003g0028 a0005c0010t0003g0065 a0005c0010t0003g0066 a0005c0010t0003g0067 a0005c0010t0003g0068 a0008c0013t0003g0035	65	276	0.2355	41	c.108 others(64): Show c.1086+131096_1086+131136dupACTCTAGCCTGGGTGACAGAGC AATAGCAAGACCCTGTATC	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLDN8_chr21_30209006_30221097	30210298	T T	TATATATA others(34): Show TATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01081.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	2	466	0.0043	41	c.49 others(52): Show c.4949_*4950insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3707		chr21	TogoVar
CLEC4C_chr12_7724383_7752375	7727903	C C	CAAAAGGG others(34): Show CAAAAGGGAAGGTAGAAAAGGCAAAACAAAGAAAGAAAAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	448	0.0022	41	c.16 others(52): Show c.1692_*1693insTGCTTTTCTTTCTTTGTTTTGCCTTTTCTACCTT CCCTTTT	CLEC4C	ENSG00000198178.11	transcript	ENST00000360345.8	protein_coding		1479		chr12	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0014 a0006c0007t0001g0014	1	432	0.0023	41	c.-80 others(50): Show c.-805_-804insATATATATATATATATATATATATATTTTTTTTTTT TTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03654.hp2 HG03017.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	432	0.0046	41	c.-80 others(50): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT TTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLN8_chr8_1758789_1791570	1763399	G G	GCCCCGCC others(34): Show GCCCCGCCCCCCGCCGCCCCCCGCCCCCCGCCGCCCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	413	0.0024	41	c.-61 others(50): Show c.-610_-609insCCCCGCCCCCCGCCGCCCCCCGCCCCCCGCCGCCCC CCGCC	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		389		chr8	TogoVar
CLNK_chr4_10481395_10689768	10533549	A A	AGCAACAG others(34): Show AGCAACAGGCAACTGTACCAAGGTTCCACGGTTTTAGCCTCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	320	0.0031	41	c.603 others(58): Show c.603-1307_603-1267dupAGAGGCTAAAACCGTGGAACCTTGGTAC AGTTGCCTGTTGC	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CGGATGAG others(34): Show CGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	370	0.0027	41	c.891 others(58): Show c.891+1165_891+1166insTCATCCCGTGTGTCTACAGTAGTCCCCC CTTATCCTCATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAAG others(34): Show AGATGAAGATAAGGGGGGACTACTGTAGATACACGGGATGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02055.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0266 a0001c0001t0002g0267	2	370	0.0054	41	c.891 others(58): Show c.891+1036_891+1037insCTCATCCCGTGTATCTACAGTAGTCCCC CCTTATCTTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	408	0.0025	41	c.253 others(58): Show c.253+3142_253+3143insAAATATATATATATATATATATATATAT ATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969314	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	408	0.0025	41	c.253 others(58): Show c.253+3141_253+3142insTATATATATATATATATATATATATATA TATATATATATAT	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140171663	A A	ATATAATA others(34): Show ATATAATATGTATTATATATAATATATAATATATTAATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0023 a0002c0010t0023	a0002c0010t0023g0081 a0002c0010t0023g0081	1	110	0.0091	41	c.110 others(58): Show c.110-4284_110-4283insATATGTATTATATATAATATATAATATA TTAATATATTATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140171663	A A	ATATAATA others(34): Show ATATAATATGTATTATATATAATATATAATGTATTAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0103 a0002c0002t0011g0103	1	110	0.0091	41	c.110 others(58): Show c.110-4284_110-4283insATATGTATTATATATAATATATAATGTA TTAATATATTATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529633	T T	TTATTATA others(34): Show TTATTATATATTATATATTATTATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp1 HG01891.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0238 a0001c0001t0001g0166 a0001c0001t0001g0238	2	382	0.0052	41	c.929 others(56): Show c.929-898_929-897insATAATATTATATATTATATATTATTATATA TTATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMC4_chrX_155056622_155076136	155075291	C C	CCCCTGAA others(34): Show CCCCTGAAACTCTAGTTCTGGTTTTGCCTTCTTTGTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	292	0.0034	41	c.-46 others(52): Show c.-4609_-4608insAGGAAGACAAAGAAGGCAAAACCAGAACTAGAGT TTCAGGG	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4156		chrX	TogoVar
CMC4_chrX_155056622_155076136	155075291	C C	CCCCTGAA others(34): Show CCCCTGAAACTCTTGTTCTGGTTTTGCCTTCTTTGTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	292	0.0034	41	c.-46 others(52): Show c.-4609_-4608insAGGAAGACAAAGAAGGCAAAACCAGAACAAGAGT TTCAGGG	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4156		chrX	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCCTCC others(34): Show CCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0073 a0001c0001t0009g0073	1	268	0.0037	41	c.209 others(58): Show c.2091+230_2091+270dupTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(34): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18967.hp1 NA19081.hp1 NA18953.hp2 NA18967.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044	a0001c0001t0038g0238 a0001c0001t0042g0233 a0001c0001t0044g0214 a0001c0001t0038g0238 a0001c0001t0042g0233 a0001c0001t0044g0214	3	268	0.0112	41	c.209 others(58): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81706604	C C	CCAGAGGT others(34): Show CCAGAGGTTGAGGCTTGCTTTCAAGAAGCAGCACCGAGTCAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0233 a0001c0001t0042g0233	1	268	0.0037	41	c.219 others(58): Show c.2198-409_2198-369dupCAGAGGTTGAGGCTTGCTTTCAAGAAGC AGCACCGAGTCAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(34): Show TTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0217 a0003c0009t0006g0217	1	360	0.0028	41	c.43 others(52): Show c.4376_*4377insGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAA AGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTTT others(34): Show TTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03704.hp2 HG00642.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0039 a0002c0006t0001g0071 a0001c0002t0001g0039 a0002c0006t0001g0071	2	360	0.0056	41	c.43 others(52): Show c.4376_*4377insGAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAG AAAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTCTTCTTTCTTTCCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	360	0.0028	41	c.43 others(52): Show c.4375_*4376insGGAAAGAAAGAAAGAAAGGAAAGAAAGAAGAAGA AAGAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTTTCTTTCTTTCCTTCCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	41	c.43 others(52): Show c.4375_*4376insGGAAAGAAAGAAAGGAAGGAAAGAAAGAAAAAGA AAGAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879788	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01358.hp1 HG02080.hp1 others(1): Show HG00609.hp2 HG01358.hp1 HG02080.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0018 a0002c0006 others(1): Show a0001c0002 a0001c0018 a0002c0006 a0002c0022	a0001c0002t0001 a0001c0018t0001 a0002c0006t0001 others(1): Show a0001c0002t0001 a0001c0018t0001 a0002c0006t0001 a0002c0022t0008	a0001c0002t0001g0040 a0001c0018t0001g0297 a0002c0006t0001g0100 others(1): Show a0001c0002t0001g0040 a0001c0018t0001g0297 a0002c0006t0001g0100 a0002c0022t0008g0011	4	360	0.0111	41	c.43 others(52): Show c.4375_*4376insGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAAGA AAGAAAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2551		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879802	T T	TCCCTCCC others(34): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0107 a0001c0004t0022g0107	1	360	0.0028	41	c.43 others(52): Show c.4361_*4362insGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2537		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57958325	G G	GGGTCCCT others(34): Show GGGTCCCTTCTTCCTACTGTGCCTTCACACCCCAGGGACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(112): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp2 NA18967.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18989.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(23): Show a0001 a0002 a0004 a0006 a0007 a0009 a0010 a0012 a0014 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0029 a0043 a0046 a0047 a0048 a0049 a0051 a0052	a0001c0002 a0001c0004 a0001c0007 others(54): Show a0001c0002 a0001c0004 a0001c0007 a0001c0015 a0001c0016 a0001c0027 a0001c0028 a0001c0041 a0001c0042 a0001c0053 a0002c0005 a0002c0006 a0002c0011 a0002c0022 a0002c0037 a0002c0038 a0002c0109 a0002c0113 a0002c0114 a0004c0014 a0004c0044 a0004c0045 a0004c0046 a0004c0048 a0004c0049 a0006c0081 a0006c0082 a0006c0083 a0006c0085 a0006c0086 a0006c0087 a0007c0020 a0007c0021 a0009c0026 a0009c0077 a0010c0010 a0012c0115 a0012c0119 a0014c0023 a0018c0055 a0019c0110 a0019c0112 a0020c0118 a0021c0039 a0022c0050 a0023c0043 a0024c0047 a0025c0051 a0028c0084 a0029c0088 a0043c0076 a0046c0107 a0047c0111 a0048c0117 a0049c0108 a0051c0123 a0052c0106	a0001c0002t0001 a0001c0004t0001 a0001c0007t0003 others(82): Show a0001c0002t0001 a0001c0004t0001 a0001c0007t0003 a0001c0007t0008 a0001c0015t0001 a0001c0015t0020 a0001c0016t0004 a0001c0016t0010 a0001c0016t0046 a0001c0027t0003 a0001c0028t0042 a0001c0041t0005 a0001c0042t0011 a0001c0053t0004 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0005 a0002c0005t0006 a0002c0005t0008 a0002c0005t0009 a0002c0005t0041 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0006 a0002c0006t0008 a0002c0006t0013 a0002c0006t0016 a0002c0006t0021 a0002c0011t0004 a0002c0011t0016 a0002c0022t0002 a0002c0022t0008 a0002c0022t0018 a0002c0037t0003 a0002c0038t0003 a0002c0038t0010 a0002c0109t0004 a0002c0113t0003 a0002c0114t0010 a0004c0014t0001 a0004c0014t0005 a0004c0014t0016 a0004c0044t0004 a0004c0045t0003 a0004c0046t0036 a0004c0048t0016 a0004c0049t0015 a0006c0081t0021 a0006c0082t0010 a0006c0083t0043 a0006c0085t0024 a0006c0086t0003 a0006c0087t0001 a0007c0020t0007 a0007c0020t0009 a0007c0021t0003 a0007c0021t0009 a0007c0021t0014 a0009c0026t0004 a0009c0077t0004 a0010c0010t0003 a0010c0010t0008 a0012c0115t0045 a0012c0119t0023 a0014c0023t0002 a0018c0055t0025 a0019c0110t0011 a0019c0112t0024 a0020c0118t0001 a0021c0039t0002 a0022c0050t0003 a0023c0043t0011 a0024c0047t0034 a0025c0051t0001 a0028c0084t0003 a0029c0088t0007 a0043c0076t0003 a0046c0107t0006 a0047c0111t0003 a0048c0117t0026 a0049c0108t0004 a0051c0123t0003 a0052c0106t0002	a0001c0002t0001g0056 a0001c0004t0001g0165 a0001c0007t0003g0189 others(112): Show a0001c0002t0001g0056 a0001c0004t0001g0165 a0001c0007t0003g0189 a0001c0007t0003g0340 a0001c0007t0008g0356 a0001c0015t0001g0335 a0001c0015t0020g0336 a0001c0016t0004g0313 a0001c0016t0010g0057 a0001c0016t0046g0054 a0001c0027t0003g0058 a0001c0028t0042g0069 a0001c0041t0005g0028 a0001c0042t0011g0029 a0001c0053t0004g0200 a0002c0005t0001g0013 a0002c0005t0001g0014 a0002c0005t0001g0015 a0002c0005t0001g0016 a0002c0005t0001g0021 a0002c0005t0001g0024 a0002c0005t0001g0026 a0002c0005t0001g0027 a0002c0005t0001g0087 a0002c0005t0001g0098 a0002c0005t0001g0101 a0002c0005t0001g0303 a0002c0005t0001g0319 a0002c0005t0002g0082 a0002c0005t0002g0320 a0002c0005t0003g0106 a0002c0005t0005g0322 a0002c0005t0006g0089 a0002c0005t0006g0097 a0002c0005t0008g0025 a0002c0005t0009g0104 a0002c0005t0041g0068 a0002c0006t0001g0017 a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0001g0095 a0002c0006t0001g0100 a0002c0006t0001g0304 a0002c0006t0002g0096 a0002c0006t0003g0012 a0002c0006t0003g0022 a0002c0006t0003g0076 a0002c0006t0006g0323 a0002c0006t0008g0084 a0002c0006t0013g0083 a0002c0006t0016g0110 a0002c0006t0021g0187 a0002c0011t0004g0066 a0002c0011t0016g0190 a0002c0022t0002g0074 a0002c0022t0008g0011 a0002c0022t0018g0112 a0002c0037t0003g0023 a0002c0037t0003g0092 a0002c0038t0003g0094 a0002c0038t0010g0103 a0002c0109t0004g0108 a0002c0113t0003g0318 a0002c0114t0010g0357 a0004c0014t0001g0345 a0004c0014t0005g0346 a0004c0014t0016g0326 a0004c0044t0004g0343 a0004c0045t0003g0342 a0004c0046t0036g0348 a0004c0048t0016g0354 a0004c0049t0015g0344 a0006c0081t0021g0331 a0006c0082t0010g0337 a0006c0083t0043g0063 a0006c0085t0024g0209 a0006c0086t0003g0067 a0006c0087t0001g0211 a0007c0020t0007g0007 a0007c0020t0009g0018 a0007c0020t0009g0081 a0007c0021t0003g0105 a0007c0021t0009g0093 a0007c0021t0014g0088 a0009c0026t0004g0059 a0009c0026t0004g0310 a0009c0077t0004g0060 a0010c0010t0003g0030 a0010c0010t0003g0325 a0010c0010t0003g0328 a0010c0010t0008g0090 a0010c0010t0008g0102 a0012c0115t0045g0111 a0012c0119t0023g0091 a0014c0023t0002g0347 a0014c0023t0002g0349 a0018c0055t0025g0042 a0019c0110t0011g0321 a0019c0112t0024g0010 a0020c0118t0001g0302 a0021c0039t0002g0086 a0021c0039t0002g0305 a0022c0050t0003g0352 a0023c0043t0011g0351 a0024c0047t0034g0350 a0025c0051t0001g0339 a0028c0084t0003g0330 a0029c0088t0007g0210 a0043c0076t0003g0055 a0046c0107t0006g0099 a0047c0111t0003g0327 a0048c0117t0026g0186 a0049c0108t0004g0061 a0051c0123t0003g0085 a0052c0106t0002g0075	115	360	0.3194	41	c.837 others(54): Show c.837+84_837+85insTGTGTCCCTGGGGTGTGAAGGCACAGTAGGAA GAAGGGACC	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	11/32			chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0107	1	342	0.0029	41	c.946 others(56): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	354	0.0028	41	c.159 others(60): Show c.1596-4968_1596-4967insATATATATATATATATATATATATAT ATATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54134028	A A	ACCTCCCC others(34): Show ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02615.hp1 others(8): Show HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG03041.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(8): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0004t0001g0081	11	223	0.0493	41	c.-40 others(52): Show c.-4016_-4015insCCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTC CCTCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3733		chr19	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0085 a0001c0001t0042g0085	1	426	0.0024	41	c.100 others(60): Show c.100-17958_100-17957insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNST_chr1_246561456_246673595	246605802	C C	CGGGGTAG others(34): Show CGGGGTAGGTGTCTTCCGGCCGGGGTGCGTGTCTTCCGGCCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	320	0.0031	41	c.379 others(60): Show c.379+13866_379+13867insAGGTGTCTTCCGGCCGGGGTGCGTGT CTTCCGGCCGGGGGT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0155 a0001c0003t0005g0155	1	230	0.0044	41	c.-76 others(60): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN6_chr3_1088024_1409217	1245223	T T	TATAACAT others(34): Show TATAACATATATATATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	232	0.0043	41	c.358 others(60): Show c.358+17233_358+17234insACATATATATATATATATATAACATA TATATATATAACATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0019 a0002c0002t0005g0019	1	274	0.0037	41	c.133 others(60): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAGAG others(34): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19005.hp2 NA18939.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0112 a0001c0001t0001g0115	2	342	0.0059	41	c.844 others(56): Show c.844-157_844-156insGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COL18A1_chr21_45400165_45518720	45440469	C C	CAAGCAGT others(34): Show CAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(65): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18906.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0008 a0010 a0013 a0014 a0028 a0031 a0036 a0037	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0022 a0001c0035 a0001c0038 a0001c0041 a0001c0063 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0001c0098 a0004c0023 a0004c0091 a0004c0099 a0004c0100 a0005c0036 a0008c0101 a0010c0014 a0013c0102 a0014c0039 a0028c0097 a0031c0092 a0036c0048 a0037c0049	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(27): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0022t0001 a0001c0035t0001 a0001c0038t0004 a0001c0041t0001 a0001c0063t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0001c0098t0001 a0004c0023t0002 a0004c0091t0001 a0004c0099t0003 a0004c0100t0001 a0005c0036t0001 a0008c0101t0005 a0010c0014t0001 a0013c0102t0004 a0014c0039t0009 a0028c0097t0001 a0031c0092t0011 a0036c0048t0004 a0037c0049t0004	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(65): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0038t0004g0028 a0001c0038t0004g0029 a0001c0041t0001g0155 a0001c0063t0001g0144 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0001c0098t0001g0007 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0091t0001g0056 a0004c0099t0003g0030 a0004c0100t0001g0039 a0005c0036t0001g0245 a0005c0036t0001g0292 a0008c0101t0005g0027 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0013c0102t0004g0196 a0014c0039t0009g0197 a0014c0039t0009g0198 a0028c0097t0001g0036 a0031c0092t0011g0190 a0036c0048t0004g0184 a0037c0049t0004g0183	68	292	0.2329	41	c.107 others(60): Show c.107-27643_107-27603dupTCGGGGCCTGCTGGGGTTTGAGCCAC GTTCCCCGGAAGCAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45440561	G G	GGGCCTGC others(34): Show GGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0217 a0001c0005t0002g0217	1	292	0.0034	41	c.107 others(60): Show c.107-27641_107-27640insTGGCCTGCTGGGGTTTGAGCCACGTT CCCCGGAAGCAGTCG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489956	G G	GCCCCACA others(34): Show GCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0211 a0001c0005t0003g0211	1	292	0.0034	41	c.196 others(58): Show c.1960-257_1960-217dupACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCTCCCCCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098350	T T	TAAATATA others(34): Show TAAATATATATATAAATATATAAACACATATGTAAATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	264	0.0038	41	c.181 others(60): Show c.1812+3121_1812+3122insTATATATTTACATATGTGTTTATATA TTTATATATATATTT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(34): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGACAAGGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	158	0.0063	41	c.355 others(58): Show c.3555+209_3555+210insGCCTTGTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178593415	G G	GAGGGGGG others(34): Show GAGGGGGGGAGGGTATGGGGTTTAGAGGGAGGGGGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0059 a0001c0004t0005g0059	1	236	0.0042	41	c.-32 others(52): Show c.-3219_-3218insTCCTTCCCCCCCTCCCTCTAAACCCCATACCCTC CCCCCCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding		3023		chr5	TogoVar
COL4A1_chr13_110143963_110312157	110252655	A A	ATATATGT others(34): Show ATATATGTATATATACATATAATATGTATATATACATATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0179 a0003c0012t0001g0179	1	344	0.0029	41	c.85- others(56): Show c.85-9962_85-9922dupATTATATGTATATATACATATTATATGTAT ATATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110456926	C C	CCGTGGGG others(34): Show CCGTGGGGCTGATGCCGTGCGTCTGCGTGGGACCCCAGGCGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00621.hp2 others(80): 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 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02738.hp1 HG03017.hp1 HG03098.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA19002.hp2 NA19009.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0013 a0015 a0023 a0025 a0026	a0001c0002 a0001c0003 a0001c0004 others(23): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0016 a0001c0022 a0001c0037 a0001c0046 a0001c0047 a0001c0052 a0001c0100 a0001c0101 a0001c0102 a0001c0106 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0006c0033 a0013c0042 a0015c0109 a0023c0099 a0025c0103 a0026c0104	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(47): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0023 a0001c0003t0003 a0001c0003t0017 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0002 a0001c0008t0004 a0001c0011t0003 a0001c0011t0004 a0001c0011t0008 a0001c0011t0013 a0001c0016t0001 a0001c0016t0003 a0001c0016t0007 a0001c0022t0019 a0001c0037t0020 a0001c0046t0009 a0001c0047t0002 a0001c0052t0003 a0001c0100t0001 a0001c0101t0019 a0001c0102t0011 a0001c0106t0001 a0005c0020t0002 a0005c0020t0006 a0005c0021t0001 a0005c0021t0006 a0005c0021t0028 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0012 a0006c0027t0039 a0006c0033t0012 a0013c0042t0002 a0015c0109t0002 a0023c0099t0006 a0025c0103t0004 a0026c0104t0006	a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 others(80): Show a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0002g0349 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0004g0275 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0002t0023g0305 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0004t0005g0163 a0001c0005t0001g0102 a0001c0005t0001g0249 a0001c0005t0001g0257 a0001c0005t0002g0297 a0001c0005t0002g0322 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0005t0003g0052 a0001c0005t0003g0071 a0001c0005t0003g0080 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0008t0002g0276 a0001c0008t0004g0282 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0011t0004g0311 a0001c0011t0008g0176 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0016t0001g0109 a0001c0016t0003g0094 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0022t0019g0130 a0001c0037t0020g0069 a0001c0046t0009g0171 a0001c0047t0002g0310 a0001c0052t0003g0141 a0001c0100t0001g0164 a0001c0101t0019g0129 a0001c0102t0011g0172 a0001c0106t0001g0217 a0005c0020t0002g0270 a0005c0020t0002g0271 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0006g0054 a0005c0021t0028g0239 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0012g0281 a0006c0027t0039g0096 a0006c0033t0012g0335 a0013c0042t0002g0313 a0013c0042t0002g0314 a0015c0109t0002g0321 a0023c0099t0006g0058 a0025c0103t0004g0301 a0026c0104t0006g0085	83	372	0.2231	41	c.134 others(58): Show c.1340-402_1340-401insGTGCGTCTGCGTGGGACCCCAGGCGTCG TGGGGCTGATGCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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