Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NCBP2L_chrX_107772733_107800829	107781676	A A	ATCTATCT others(13): Show ATCTATCTATCTATCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18906.hp2 NA19030.hp2 HG02809.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0246	3	303	0.0099	20	c.-73 others(37): Show c.-73+3821_-73+3822insATCTATCTATCTCTCTCTCT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781676	A A	ATCTATCT others(13): Show ATCTATCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	303	0.0033	20	c.-73 others(37): Show c.-73+3821_-73+3822insATCTCTCTCTCTCTCTCTCT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	303	0.0033	20	c.-73 others(37): Show c.-73+3835_-73+3836insCTCTCTCTATATATATATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	303	0.0033	20	c.-73 others(37): Show c.-73+3835_-73+3836insCTCTCTCTCTATATATATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	303	0.0033	20	c.-73 others(37): Show c.-73+3835_-73+3836insCTCTCTCTCTCTCTATATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107781692	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	303	0.0033	20	c.-73 others(37): Show c.-73+3835_-73+3836insCTCTCTCTCTCTCTCTATAT	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP3_chr17_3797158_3851246	3826695	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp2 HG02004.hp2 others(5): Show HG00735.hp1 HG01934.hp2 HG02004.hp2 HG02145.hp2 HG02622.hp1 HG02818.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0045 a0001c0001t0047 a0001c0001t0120 others(5): Show a0001c0001t0045 a0001c0001t0047 a0001c0001t0120 a0001c0003t0015 a0001c0004t0115 a0001c0004t0116 a0001c0004t0117 a0001c0004t0118	a0001c0001t0045g0047 a0001c0001t0047g0228 a0001c0001t0120g0258 others(5): Show a0001c0001t0045g0047 a0001c0001t0047g0228 a0001c0001t0120g0258 a0001c0003t0015g0057 a0001c0004t0115g0222 a0001c0004t0116g0208 a0001c0004t0117g0209 a0001c0004t0118g0210	8	370	0.0216	20	c.482 others(35): Show c.482-500_482-481dupCTTCCTTCCTTCCTTCCTTC	NCBP3	ENSG00000074356.17	transcript	ENST00000389005.6	protein_coding	4/12			chr17	TogoVar
NCEH1_chr3_172625249_172716067	172653737	T T	TTTTGTTT others(13): Show TTTTGTTTTTTTTGTTGTTGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0114 a0001c0001t0009g0114	1	332	0.0030	20	c.139 others(37): Show c.139-5624_139-5623insGCAACAACAAAAAAAACAAA	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
NCEH1_chr3_172625249_172716067	172712727	C C	CCTGCCTC others(13): Show CCTGCCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	332	0.0030	20	c.-17 others(31): Show c.-1744_-1743insAGAGAGAGAGAGAGAGGCAG	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding		1661		chr3	TogoVar
NCF1_chr7_74769011_74794315	74770531	A A	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18995.hp1 NA18979.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0037 a0002c0002t0002g0019 a0002c0002t0002g0037	2	330	0.0061	20	c.-35 others(31): Show c.-3501_-3500insTTTATTTTATTTTATTTTAT	NCF1	ENSG00000158517.16	transcript	ENST00000289473.11	protein_coding		3479		chr7	TogoVar
NCF1_chr7_74769011_74794315	74777502	A A	ACAGGGTC others(13): Show ACAGGGTCTTGCTCTGTCACC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01433.hp2 HG01515.hp1 others(4): Show HG01169.hp1 HG01433.hp2 HG01515.hp1 HG02486.hp2 HG03579.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0005t0001g0126 others(2): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128	7	330	0.0212	20	c.153 others(35): Show c.153+156_153+175dupCAGGGTCTTGCTCTGTCACC	NCF1	ENSG00000158517.16	transcript	ENST00000289473.11	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NCF2_chr1_183550562_183595459	183594968	C C	CTGTCCTT others(13): Show CTGTCCTTCAGTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	406	0.0025	20	c.-46 others(31): Show c.-4659_-4640dupTGGCGAAAGACTGAAGGACA	NCF2	ENSG00000116701.16	transcript	ENST00000367535.8	protein_coding		4510		chr1	TogoVar
NCK1_chr3_136857208_136956606	136923559	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	232	0.0043	20	c.-18 others(37): Show c.-18-4408_-18-4389dupAAATAAATAAATAAATAAAT	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105750037	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00673.hp1 others(13): Show HG00408.hp2 HG00558.hp2 HG00673.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02148.hp1 NA18941.hp1 NA18946.hp1 NA18950.hp1 NA18961.hp1 NA18973.hp1 NA18978.hp2 NA18980.hp2 NA18990.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0158 others(13): Show a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0159 a0001c0001t0008g0154 a0001c0001t0008g0156 a0001c0001t0014g0160	16	334	0.0479	20	c.-20 others(39): Show c.-201+4911_-201+4930dupCACACACACACACACACACA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105830691	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	334	0.0030	20	c.-17 others(39): Show c.-17+14097_-17+14098insATGTGTGTGTGTGTGTGTGT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105830693	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	334	0.0030	20	c.-17 others(39): Show c.-17+14099_-17+14100insATGTGTGTGTGTGTGTGTGT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105861903	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	334	0.0030	20	c.226 others(37): Show c.226+6628_226+6647dupCTCCCTCCCTCCCTCCCTCC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCKAP1L_chr12_54492752_54553243	54498399	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0256 a0001c0001t0021g0257 a0001c0001t0006g0256 a0001c0001t0021g0257	2	350	0.0057	20	c.102 others(35): Show c.102+524_102+543dupGTGTGTGTGTGTGTGTGTGT	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54498913	A A	ATATTTAT others(13): Show ATATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG01981.hp1 others(13): Show HG01934.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp2 HG02280.hp2 HG02615.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03710.hp2 HG03927.hp2 NA18979.hp2 NA19030.hp1 NA19082.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0001t0031 a0001c0002t0004 a0001c0002t0015 a0001c0002t0022 a0001c0004t0002 a0001c0004t0003 a0001c0004t0011 a0002c0003t0001 a0009c0017t0014	a0001c0001t0001g0056 a0001c0001t0001g0283 a0001c0001t0004g0057 others(13): Show a0001c0001t0001g0056 a0001c0001t0001g0283 a0001c0001t0004g0057 a0001c0001t0004g0277 a0001c0001t0005g0286 a0001c0001t0021g0058 a0001c0001t0031g0055 a0001c0002t0004g0301 a0001c0002t0015g0303 a0001c0002t0022g0304 a0001c0004t0002g0285 a0001c0004t0002g0287 a0001c0004t0003g0281 a0001c0004t0011g0284 a0002c0003t0001g0059 a0009c0017t0014g0302	16	350	0.0457	20	c.103 others(35): Show c.103-428_103-409dupATTTATTTATTTATTTATTT	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0287 a0001c0004t0002g0287	1	350	0.0029	20	c.307 others(37): Show c.307-1056_307-1055insAAAAAAAAAATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	350	0.0029	20	c.307 others(37): Show c.307-1056_307-1055insAATATATATATATATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02809.hp1 NA18948.hp2 HG01358.hp1 HG02809.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0050 a0001c0002t0001 a0001c0001t0002 a0001c0001t0050 a0001c0002t0001	a0001c0001t0002g0122 a0001c0001t0050g0216 a0001c0002t0001g0337 a0001c0001t0002g0122 a0001c0001t0050g0216 a0001c0002t0001g0337	3	350	0.0086	20	c.307 others(37): Show c.307-1048_307-1029dupATATATATATATATATATAT	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCKAP1_chr2_182904115_183043457	182912849	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG02056.hp1 others(6): Show HG01109.hp2 HG01169.hp2 HG02056.hp1 HG02630.hp1 HG02698.hp1 HG03579.hp1 HG03831.hp2 NA18975.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0031 a0001c0001t0032 a0001c0001t0077 others(4): Show a0001c0001t0031 a0001c0001t0032 a0001c0001t0077 a0001c0001t0085 a0001c0001t0092 a0001c0001t0093 a0001c0005t0072	a0001c0001t0031g0093 a0001c0001t0031g0127 a0001c0001t0032g0088 others(6): Show a0001c0001t0031g0093 a0001c0001t0031g0127 a0001c0001t0032g0088 a0001c0001t0032g0131 a0001c0001t0077g0130 a0001c0001t0085g0083 a0001c0001t0092g0137 a0001c0001t0093g0064 a0001c0005t0072g0157	9	218	0.0413	20	c.12 others(33): Show c.12833_*12852dupCCTTCCTTCCTTCCTTCCTT	NCKAP1	ENSG00000061676.16	transcript	ENST00000361354.9	protein_coding	31/31	12852		chr2	TogoVar
NCKAP1_chr2_182904115_183043457	183009475	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0166 a0001c0003t0004g0166	1	218	0.0046	20	c.220 others(37): Show c.220-6151_220-6150insGCTTCCTTCCTTCCTTCCTT	NCKAP1	ENSG00000061676.16	transcript	ENST00000361354.9	protein_coding	2/30			chr2	TogoVar
NCKAP1_chr2_182904115_183043457	183009475	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGTAGCAAGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0012 a0001c0002t0041g0012	1	218	0.0046	20	c.220 others(37): Show c.220-6151_220-6150insGCTTGCTACCTTCCTTCCTT	NCKAP1	ENSG00000061676.16	transcript	ENST00000361354.9	protein_coding	2/30			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132692154	A A	ATTTTATT others(13): Show ATTTTATTTTATTTTATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0008 a0011 a0008 a0011	a0008c0008 a0011c0013 a0008c0008 a0011c0013	a0008c0008t0001 a0011c0013t0001 a0008c0008t0001 a0011c0013t0001	a0008c0008t0001g0019 a0011c0013t0001g0043 a0008c0008t0001g0019 a0011c0013t0001g0043	2	70	0.0286	20	c.571 others(41): Show c.5714-18850_5714-18849insAAAAATAAAATAAAATAAAA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	19/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132920771	G G	GTATGTAT others(13): Show GTATGTATGTATGTGTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0001	a0009c0023t0001g0032 a0009c0023t0001g0032	1	70	0.0143	20	c.580 others(39): Show c.580-41856_580-41855insTATATACACATACATACATA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	8/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132920771	G G	GTATGTAT others(13): Show GTATGTATGTATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0005 a0008c0008t0005	a0008c0008t0005g0068 a0008c0008t0005g0068	1	70	0.0143	20	c.580 others(39): Show c.580-41856_580-41855insTATACACACATACATACATA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	8/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	132949003	T T	TTAAAAGA others(13): Show TTAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	70	0.0143	20	c.579 others(39): Show c.579+14716_579+14717insTTTTCTTTTCTTTTCTTTTA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	8/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133181603	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0018 a0018	a0018c0012 a0018c0012	a0018c0012t0001 a0018c0012t0001	a0018c0012t0001g0031 a0018c0012t0001g0031	1	70	0.0143	20	c.207 others(39): Show c.207+32093_207+32112dupTTTTTTTTTTTTTTTTTTTT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	5/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133205291	T T	TTAGATAG others(13): Show TTAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp2 HG03130.hp2 others(1): Show HG01081.hp1 HG02630.hp2 HG03130.hp2 NA18906.hp2	a0001 a0007 a0014 others(1): Show a0001 a0007 a0014 a0016	a0001c0009 a0007c0005 a0014c0027 others(1): Show a0001c0009 a0007c0005 a0014c0027 a0016c0017	a0001c0009t0001 a0007c0005t0001 a0014c0027t0001 others(1): Show a0001c0009t0001 a0007c0005t0001 a0014c0027t0001 a0016c0017t0003	a0001c0009t0001g0042 a0007c0005t0001g0009 a0014c0027t0001g0044 others(1): Show a0001c0009t0001g0042 a0007c0005t0001g0009 a0014c0027t0001g0044 a0016c0017t0003g0033	4	70	0.0571	20	c.207 others(37): Show c.207+8405_207+8424dupTCTATCTATCTATCTATCTA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	5/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133210173	A A	AATAATAT others(13): Show AATAATATAATATAATATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01081.hp2 others(23): Show HG00673.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG02083.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19004.hp1 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0024 a0001c0029 others(10): Show a0001c0001 a0001c0024 a0001c0029 a0002c0002 a0003c0004 a0003c0025 a0004c0003 a0005c0007 a0005c0018 a0005c0021 a0006c0014 a0007c0005 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0024t0001 a0001c0029t0001 a0002c0002t0001 a0002c0002t0004 a0003c0004t0001 a0003c0025t0003 a0004c0003t0001 a0004c0003t0008 a0005c0007t0001 a0005c0018t0002 a0005c0021t0001 a0006c0014t0002 a0007c0005t0001 a0008c0008t0005	a0001c0001t0001g0053 a0001c0001t0002g0034 a0001c0001t0002g0067 others(23): Show a0001c0001t0001g0053 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0004g0002 a0001c0024t0001g0013 a0001c0029t0001g0046 a0002c0002t0001g0040 a0002c0002t0004g0001 a0003c0004t0001g0058 a0003c0025t0003g0021 a0004c0003t0001g0014 a0004c0003t0001g0016 a0004c0003t0001g0035 a0004c0003t0001g0064 a0004c0003t0008g0070 a0005c0007t0001g0012 a0005c0007t0001g0048 a0005c0007t0001g0050 a0005c0018t0002g0063 a0005c0021t0001g0055 a0006c0014t0002g0045 a0007c0005t0001g0009 a0007c0005t0001g0029 a0007c0005t0001g0049 a0007c0005t0001g0059 a0008c0008t0005g0068	26	70	0.3714	20	c.207 others(37): Show c.207+3523_207+3542dupATTATATTATATTATATTAT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	5/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133308689	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0019 a0008c0008t0001g0019	1	70	0.0143	20	c.70- others(35): Show c.70-5599_70-5580dupAAAAAAAAAAAAAAAAAAAA	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133498433	C C	CGGAAGGA others(13): Show CGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0003 a0003c0025t0003	a0003c0025t0003g0021 a0003c0025t0003g0021	1	70	0.0143	20	c.69+ others(37): Show c.69+19005_69+19024dupTTCCTTCCTTCCTTCCTTCC	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133498480	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0025 a0008c0008t0002g0025	1	70	0.0143	20	c.69+ others(37): Show c.69+18977_69+18978insGCCTGCCTTCCTTCCTTCCT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133498480	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp2 HG03579.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0003 a0001c0001t0001 a0002c0010t0003	a0001c0001t0001g0011 a0002c0010t0003g0018 a0001c0001t0001g0011 a0002c0010t0003g0018	2	70	0.0286	20	c.69+ others(37): Show c.69+18977_69+18978insGCCTGCCTGCCTTCCTTCCT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133498480	A A	AAGGAAGG others(13): Show AAGGAAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	70	0.0143	20	c.69+ others(37): Show c.69+18977_69+18978insGCCTGCCTGCCTGCCTTCCT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133558704	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0057 a0006c0006t0001g0057	1	70	0.0143	20	c.-62 others(35): Show c.-62+326_-62+345dupTTTTTTTTTTTTTTTTTTTT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	2/19			chr2	TogoVar
NCKIPSD_chr3_48668844_48690915	48687070	C C	CCTTTTTT others(13): Show CCTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	310	0.0032	20	c.-12 others(31): Show c.-1264_-1263insAAAAAAAAAAAAAAAAAAAG	NCKIPSD	ENSG00000213672.8	transcript	ENST00000294129.7	protein_coding		1156		chr3	TogoVar
NCMAP_chr1_24551087_24614328	24573971	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	402	0.0025	20	c.-8+ others(37): Show c.-8+17802_-8+17803insAAAAAAAAAAAAAAAAAAAC	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	1/3			chr1	TogoVar
NCMAP_chr1_24551087_24614328	24597617	G G	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	402	0.0025	20	c.82+ others(35): Show c.82+2108_82+2109insGAGAAAGAAAGAAAGAAAGA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCOA1_chr2_24486254_24775702	24516986	A A	ATATATAC others(13): Show ATATATACGTGTATATATACG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18975.hp1 NA18982.hp2 others(1): Show NA18959.hp2 NA18975.hp1 NA18982.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0005g0148 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0005g0148 a0001c0001t0005g0152	4	314	0.0127	20	c.-39 others(41): Show c.-396+25390_-396+25391insCGTGTATATATACGTATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24523605	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	314	0.0032	20	c.-39 others(41): Show c.-396+32009_-396+32028dupAAAAAAAAAAAAAAAAAAAA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24576149	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	314	0.0032	20	c.-25 others(39): Show c.-259-8314_-259-8313insTTTTTTTTTTTTTTTTTTTT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24614199	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03453.hp1 NA19058.hp1 HG01069.hp1 HG03453.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0311 a0001c0002t0003g0037 a0001c0002t0003g0042 a0001c0001t0001g0311 a0001c0002t0003g0037 a0001c0002t0003g0042	3	314	0.0096	20	c.-17 others(41): Show c.-175+29652_-175+29671dupTTTTTTTTTTTTTTTTTTTT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24621432	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19088.hp2 NA19002.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0041 a0001c0002t0003g0032 a0001c0002t0003g0041	2	314	0.0064	20	c.-17 others(41): Show c.-174-22520_-174-22501dupTTTTTTTTTTTTTTTTTTTT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24629813	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0081 a0001c0005t0012g0082 a0001c0005t0012g0081 a0001c0005t0012g0082	2	314	0.0064	20	c.-17 others(41): Show c.-174-14150_-174-14149insTATATATATATATATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24629817	C C	CATATACA others(13): Show CATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0077 a0001c0004t0002g0077	1	314	0.0032	20	c.-17 others(41): Show c.-174-14144_-174-14143insCATATATATATATATATATA	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24642037	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01884.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0010 a0001c0002t0006 a0001c0002t0010	a0001c0002t0006g0118 a0001c0002t0010g0214 a0001c0002t0006g0118 a0001c0002t0010g0214	2	314	0.0064	20	c.-17 others(39): Show c.-174-1928_-174-1927insTGTGTGTGTGTGTGCGCGCG	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24642037	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	314	0.0032	20	c.-17 others(39): Show c.-174-1928_-174-1927insTGTGTGTGTGTGTGTGCGCG	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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