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
CNIH4_chr1_224351879_224384452	224378516	ACTGAGGC others(42): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00738.hp1 others(41): Show HG00621.hp2 HG00639.hp1 HG00738.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01261.hp2 HG01981.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18944.hp1 NA19066.hp2 NA19078.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0029 a0001c0001t0037 a0001c0001t0047 a0004c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0017 others(24): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0007g0004 a0001c0001t0007g0138 a0001c0001t0013g0026 a0001c0001t0013g0043 a0001c0001t0029g0041 a0001c0001t0037g0017 a0001c0001t0047g0003 a0004c0005t0002g0017	44	324	0.1358	-49	c.30 others(60): Show c.3045_*3093delCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3045	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNNM4_chr2_96755902_96816874	96806105	GGGGGCGG others(42): Show GGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCGCCCTCCCGGAC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	270	0.0037	-49	c.194 others(68): Show c.1949-2427_1949-2379delCCCCCCACCGCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGAC	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT6_chr5_180489379_180583358	180534659	GCTGGGGT others(42): Show GCTGGGGTCCGAGAGGCCCTCGGAATCCACCATGGCATGGGCCGGAGTCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00733.hp2 others(50): Show HG00408.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02148.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18950.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18978.hp1 NA18990.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19054.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 others(11): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060	a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 others(50): Show a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0144 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0156 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0007g0125 a0001c0001t0007g0129 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0007g0155 a0001c0001t0007g0325 a0001c0001t0015g0012 a0001c0001t0015g0115 a0001c0001t0015g0119 a0001c0001t0015g0126 a0001c0001t0015g0127 a0001c0001t0016g0013 a0001c0001t0016g0116 a0001c0001t0016g0120 a0001c0001t0016g0121 a0001c0001t0016g0331 a0001c0001t0024g0118 a0001c0001t0024g0151 a0001c0001t0024g0157 a0001c0001t0030g0131 a0001c0001t0030g0152 a0001c0001t0031g0132 a0001c0001t0031g0133 a0001c0001t0032g0128 a0001c0001t0032g0154 a0001c0001t0040g0100 a0001c0001t0041g0101 a0001c0001t0053g0117 a0001c0001t0054g0145 a0001c0001t0055g0153 a0001c0001t0060g0002	53	334	0.1587	-49	c.112 others(66): Show c.112+5467_112+5515delCCTGGGGTCCGAGAGGCCCTCGGAATCC ACCATGGCATGGGCCGGAGTC	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180535022	CGGAATCC others(42): Show CGGAATCCACCATGGCATGGGCCGGAGTCCCTGGGGTCCGAGAGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00733.hp2 others(50): Show HG00408.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02148.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18950.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18978.hp1 NA18990.hp1 NA18995.hp2 NA19005.hp2 NA19012.hp1 NA19054.hp1 NA19064.hp2 NA19080.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 others(11): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0040 a0001c0001t0041 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060	a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 others(50): Show a0001c0001t0006g0008 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0130 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0144 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0156 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0007g0125 a0001c0001t0007g0129 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0001t0007g0142 a0001c0001t0007g0143 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0007g0155 a0001c0001t0007g0325 a0001c0001t0015g0012 a0001c0001t0015g0115 a0001c0001t0015g0119 a0001c0001t0015g0126 a0001c0001t0015g0127 a0001c0001t0016g0013 a0001c0001t0016g0116 a0001c0001t0016g0120 a0001c0001t0016g0121 a0001c0001t0016g0331 a0001c0001t0024g0118 a0001c0001t0024g0151 a0001c0001t0024g0157 a0001c0001t0030g0131 a0001c0001t0030g0152 a0001c0001t0031g0132 a0001c0001t0031g0133 a0001c0001t0032g0128 a0001c0001t0032g0154 a0001c0001t0040g0100 a0001c0001t0041g0101 a0001c0001t0053g0117 a0001c0001t0054g0145 a0001c0001t0055g0153 a0001c0001t0060g0002	53	334	0.1587	-49	c.112 others(66): Show c.112+5668_112+5716delGGTCCGAGAGGCCCTTGGAATCCACCAT GGCATGGGCCGGAGTCCCTGG	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT7_chr8_17219966_17251857	17221918	AGAAGTCT others(42): Show AGAAGTCTTAAAAAAACCAACAGCAGCACAGGATGTATTAAGAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02922.hp1 NA19240.hp2 HG02257.hp2 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0052 a0001c0001t0010 a0001c0001t0052	a0001c0001t0010g0008 a0001c0001t0052g0187 a0001c0001t0010g0008 a0001c0001t0052g0187	3	408	0.0074	-49	c.87 others(60): Show c.8753_*8801delATATAATTCTTAATACATCCTGTGCTGCTGTTGG TTTTTTTAAGACTTC	CNOT7	ENSG00000198791.12	transcript	ENST00000361272.9	protein_coding		3047		chr8	TogoVar
CNTNAP2_chr7_146111801_148425998	146121069	TCTTCTAG others(42): Show TCTTCTAGACAAAAACTTACTCAAATGTCTTAAAGTTTACATAAAGCTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	-49	c.97+ others(64): Show c.97+4100_97+4148delCTAGACAAAAACTTACTCAAATGTCTTAAA GTTTACATAAAGCTTCCTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147575190	GTGTGTGT others(42): Show GTGTGTGTGTGTGTATTCCCTAGCTTTAGGAGTATGCATATGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02451.hp1 others(12): Show HG00735.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0015 a0001c0018 a0001c0019 a0002c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0003t0011 a0001c0003t0013 a0001c0004t0003 a0001c0013t0003 a0001c0015t0001 a0001c0018t0002 a0001c0019t0006 a0002c0016t0004	a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0018 others(12): Show a0001c0001t0001g0003 a0001c0001t0006g0009 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0003t0011g0023 a0001c0003t0013g0010 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0013t0003g0039 a0001c0015t0001g0011 a0001c0018t0002g0012 a0001c0019t0006g0015 a0002c0016t0004g0024	15	40	0.3750	-49	c.189 others(70): Show c.1897+12947_1897+12995delATTCCCTAGCTTTAGGAGTATGCA TATGTGTGTGTTTGTGTGTGTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(42): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03491.hp2 HG04228.hp2 HG03486.hp2 HG03491.hp2 HG04228.hp2	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0005 a0008c0017 a0009c0044 a0002c0005 a0008c0017 a0009c0044	a0002c0005t0002 a0008c0017t0002 a0009c0044t0006 a0002c0005t0002 a0008c0017t0002 a0009c0044t0006	a0002c0005t0002g0257 a0008c0017t0002g0068 a0009c0044t0006g0247 a0002c0005t0002g0257 a0008c0017t0002g0068 a0009c0044t0006g0247	3	274	0.0110	-49	c.275 others(66): Show c.2755+434_2755+482delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110253342	ATACATAT others(42): Show ATACATATAATTATATGTATTACATATACATATAATTATATGTATTACAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02451.hp2 others(3): Show HG01081.hp1 HG01884.hp2 HG02451.hp2 HG02723.hp2 HG03098.hp1 NA20129.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0015 a0002c0018 a0002c0043 others(3): Show a0002c0015 a0002c0018 a0002c0043 a0003c0045 a0003c0089 a0004c0035	a0002c0015t0001 a0002c0018t0001 a0002c0043t0001 others(3): Show a0002c0015t0001 a0002c0018t0001 a0002c0043t0001 a0003c0045t0001 a0003c0089t0003 a0004c0035t0001	a0002c0015t0001g0241 a0002c0018t0001g0224 a0002c0043t0001g0181 others(3): Show a0002c0015t0001g0241 a0002c0018t0001g0224 a0002c0043t0001g0181 a0003c0045t0001g0198 a0003c0089t0003g0253 a0004c0035t0001g0103	6	344	0.0174	-49	c.85- others(66): Show c.85-10657_85-10609delATGTAATACATATAATTATATGTATATG TAATACATATAATTATATGTA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45977795	GAGGGAGG others(42): Show GAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	128	0.0078	-49	c.-40 others(60): Show c.-4055_-4007delAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGG AGGGAGGGGGAGAGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3974		chr21	TogoVar
COLEC11_chr2_3590112_3649644	3590488	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	378	0.0027	-49	c.-47 others(60): Show c.-4706_-4658delCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4623		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590664	ACCCCCCC others(42): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	378	0.0027	-49	c.-45 others(60): Show c.-4530_-4482delCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCAGGTGGGGGGCTG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4447		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3591047	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	378	0.0027	-49	c.-41 others(60): Show c.-4147_-4099delCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4064		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3591095	TCCCTCCC others(42): Show TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp1 others(42): Show HG00323.hp1 HG00621.hp2 HG00733.hp1 HG01123.hp1 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG03669.hp2 HG04184.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0288 others(40): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0002c0002t0001g0011 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0324 a0002c0002t0001g0327 a0002c0002t0001g0341 a0002c0004t0001g0289 a0002c0004t0001g0322 a0002c0004t0001g0326 a0002c0005t0002g0348 a0002c0006t0001g0329 a0002c0006t0001g0333	45	378	0.1191	-49	c.-40 others(60): Show c.-4099_-4051delCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG CTGACCCCCCCTCCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4016		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116160570	AGATCTAA others(42): Show AGATCTAAAGATTTTATTTGAAGAAAAAGCCTAAGGAAGAACTGCTATCT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-49	c.510 others(68): Show c.510+26394_510+26442delATCTAAAGATTTTATTTGAAGAAAAA GCCTAAGGAAGAACTGCTATCTG	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD7_chr20_32697699_32748467	32730110	AGCCTGAG others(42): Show AGCCTGAGCTGACTGAGACACAGATCATTACTTTATCATGTCCCTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG03710.hp1 others(3): Show HG00733.hp2 HG01192.hp1 HG03710.hp1 NA18953.hp1 NA19066.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0132 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0132 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0353	6	400	0.0150	-49	c.85- others(64): Show c.85-2017_85-1969delCAGGGAGGGACATGATAAAGTAATGATCTG TGTCTCAGTCAGCTCAGGC	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COMMD7_chr20_32697699_32748467	32730144	ATCATGTC others(42): Show ATCATGTCCCTCCCTGGCCTGAGCTGACTGAGACACAGATCATTACTTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(20): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01993.hp2 HG02148.hp1 HG02300.hp1 HG02622.hp2 HG03017.hp1 HG03239.hp1 HG04228.hp1 NA18522.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0246 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0356 a0001c0001t0005g0359	23	400	0.0575	-49	c.85- others(64): Show c.85-2051_85-2003delGAAAGTAATGATCTGTGTCTCAGTCAGCTC AGGCCAGGGAGGGACATGA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	1/8			chr20	TogoVar
COPG2_chr7_130501238_130673748	130591730	GGGGGTCA others(42): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	326	0.0031	-49	c.737 others(68): Show c.737+19174_737+19222delTCCACTTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCC	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPLX3_chr15_74821627_74836802	74834452	TAGAAGCA others(42): Show TAGAAGCAAGCCCTGCCCCCCTCGCCCCAGCCTCCGGACTGCGCTGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	442	0.0023	-49	c.40 others(60): Show c.4099_*4147delAGAAGCAAGCCCTGCCCCCCTCGCCCCAGCCTCC GGACTGCGCTGCCTC	CPLX3	ENSG00000213578.6	transcript	ENST00000395018.6	protein_coding		2651		chr15	TogoVar
CPN2_chr3_194334768_194356328	194348162	GCCCAGTT others(42): Show GCCCAGTTCAGCCCACACCACCCGCTGCCCAGTTCAGCCCACCACCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp1 HG01891.hp1 others(22): Show HG01123.hp2 HG01358.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 NA20300.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0008 a0011 a0016 a0018	a0001c0001 a0003c0004 a0003c0005 others(6): Show a0001c0001 a0003c0004 a0003c0005 a0005c0006 a0006c0007 a0008c0010 a0011c0029 a0016c0019 a0018c0024	a0001c0001t0001 a0003c0004t0004 a0003c0005t0006 others(7): Show a0001c0001t0001 a0003c0004t0004 a0003c0005t0006 a0005c0006t0001 a0006c0007t0001 a0006c0007t0015 a0008c0010t0001 a0011c0029t0001 a0016c0019t0020 a0018c0024t0001	a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0004g0034 others(17): Show a0001c0001t0001g0103 a0001c0001t0001g0110 a0003c0004t0004g0034 a0003c0004t0004g0045 a0003c0004t0004g0072 a0003c0004t0004g0104 a0003c0005t0006g0109 a0005c0006t0001g0074 a0005c0006t0001g0108 a0005c0006t0001g0111 a0005c0006t0001g0112 a0006c0007t0001g0026 a0006c0007t0001g0064 a0006c0007t0001g0105 a0006c0007t0015g0062 a0006c0007t0015g0063 a0008c0010t0001g0043 a0011c0029t0001g0126 a0016c0019t0020g0102 a0018c0024t0001g0113	25	440	0.0568	-49	c.-4+ others(64): Show c.-4+3031_-4+3079delTGGGGGTGGTGGGCTGAACTGGGCAGCGGG TGGTGTGGGCTGAACTGGG	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587875	CCCGTGTC others(42): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0308 a0002c0004t0002g0308	1	348	0.0029	-49	c.927 others(64): Show c.927+775_928-750delCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPXM2_chr10_123740639_123896807	123854367	TATATATA others(42): Show TATATATAATATATATATAATATATATATTATATATATATTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp2 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0002 a0001c0005t0001 a0001c0008t0002	a0001c0005t0001g0264 a0001c0008t0002g0233 a0001c0005t0001g0264 a0001c0008t0002g0233	2	288	0.0069	-49	c.513 others(66): Show c.513+8198_513+8246delTTTATATATAATATATATATAATATATA TATTATATATATATTATATAT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CSMD1_chr8_2930361_4999914	4920883	AAAGAAAA others(42): Show AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0086 a0001c0004t0020g0086	1	126	0.0079	-49	c.85+ others(66): Show c.85+73400_85+73448delCTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920897	AAAAGAAA others(42): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 NA18971.hp2 HG01243.hp1 HG02486.hp2 NA18971.hp2	a0002 a0005 a0023 a0002 a0005 a0023	a0002c0070 a0005c0064 a0023c0095 a0002c0070 a0005c0064 a0023c0095	a0002c0070t0046 a0005c0064t0051 a0023c0095t0002 a0002c0070t0046 a0005c0064t0051 a0023c0095t0002	a0002c0070t0046g0092 a0005c0064t0051g0078 a0023c0095t0002g0124 a0002c0070t0046g0092 a0005c0064t0051g0078 a0023c0095t0002g0124	3	126	0.0238	-49	c.85+ others(66): Show c.85+73386_85+73434delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34095513	CAAGACTA others(42): Show CAAGACTAATAAAGAAAAAAAGAGAGAAGAGTCAAATAGACGCAATAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0033 a0016c0033	a0016c0033t0012 a0016c0033t0012	a0016c0033t0012g0028 a0016c0033t0012g0028	1	66	0.0152	-49	c.188 others(66): Show c.188-6369_188-6321delTTTTATTGCGTCTATTTGACTCTTCTCT CTTTTTTTCTTTATTAGTCTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSNK1A1_chr5_149487982_149556439	149542637	TATGTATA others(42): Show TATGTATATATATATATATATATATATATATATATGTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	390	0.0026	-49	c.230 others(66): Show c.230+7389_230+7437delTATATATATATATACATATATATATATA TATATATATATATATATACAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542641	TATATATA others(42): Show TATATATATATATATATATATATATATATATGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	390	0.0026	-49	c.230 others(66): Show c.230+7385_230+7433delTATATATATATATATATACATATATATA TATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542643	TATATATA others(42): Show TATATATATATATATATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18989.hp2 NA18973.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0085 a0001c0001t0001g0045 a0001c0001t0001g0085	2	390	0.0051	-49	c.230 others(66): Show c.230+7383_230+7431delTATATATATATATATATATACATATATA TATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542644	ATATATAT others(42): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19000.hp1 NA19084.hp2 HG00621.hp1 NA19000.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0018g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0018g0062	3	390	0.0077	-49	c.230 others(66): Show c.230+7382_230+7430delATATATATATATATATATATACATATAT ATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277574	AAATATAT others(42): Show AAATATATTAATATTAATATATTTAATAATATATTAATATTGGTATATTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01934.hp1 others(2): Show HG00323.hp2 HG01261.hp1 HG01934.hp1 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 others(2): Show a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114	5	176	0.0284	-49	c.182 others(68): Show c.182-18382_182-18334delAAATATACCAATATTAATATATTATT AAATATATTAATATTAATATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64277608	TAATATTG others(42): Show TAATATTGGTATATTTAATATATTAATATTAATATATTTAATAATATAGC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp1 HG02559.hp2 others(5): Show HG00621.hp2 HG02129.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0030 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0030 a0001c0001t0032	a0001c0001t0004g0125 a0001c0001t0008g0137 a0001c0001t0008g0138 others(5): Show a0001c0001t0004g0125 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0030g0130 a0001c0001t0032g0140	8	176	0.0455	-49	c.182 others(68): Show c.182-18416_182-18368delGCTATATTATTAAATATATTAATATT AATATATTAAATATACCAATATT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	490145	CCTCAGCC others(42): Show CCTCAGCCTCCTGACTAGCTGGGACTACAGGCGCGTGCCACCATGCCTGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp1 HG03516.hp2 others(1): Show HG02922.hp1 HG03041.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0071 a0001c0001t0002 a0001c0001t0071	a0001c0001t0002g0220 a0001c0001t0002g0275 a0001c0001t0002g0276 others(1): Show a0001c0001t0002g0220 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0071g0050	4	316	0.0127	-49	c.622 others(64): Show c.622-313_622-265delCCAGGCATGGTGGCACGCGCCTGTAGTCCC AGCTAGTCAGGAGGCTGAG	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	9/13			chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47097071	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	224	0.0045	-49	c.281 others(68): Show c.281-40545_281-40497delAGGGGGGTCAGCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGGAGGT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47097248	GGCCAGCC others(42): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG01981.hp1 others(2): Show HG01074.hp2 HG01261.hp2 HG01981.hp1 HG03688.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0064	5	224	0.0223	-49	c.281 others(68): Show c.281-40355_281-40307delCCCGCCCAGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCC	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTDP1_chr18_79674803_79759503	79742143	AGGTGGAG others(42): Show AGGTGGAGGCCTGGGGGCAGCAGAGGAAGCATGAAGCATGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp1 HG02615.hp1 others(6): Show HG01106.hp1 HG02145.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG03225.hp1 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0014 others(2): Show a0001c0001 a0001c0007 a0001c0014 a0001c0021 a0001c0037	a0001c0001t0006 a0001c0001t0007 a0001c0007t0003 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0007t0003 a0001c0014t0001 a0001c0021t0007 a0001c0037t0001	a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 others(6): Show a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0007g0342 a0001c0001t0007g0343 a0001c0007t0003g0360 a0001c0014t0001g0078 a0001c0021t0007g0341 a0001c0037t0001g0079	9	378	0.0238	-49	c.274 others(68): Show c.2747+5623_2747+5671delGGTGGAGGCCTGGGGGCAGCAGAGGA AGCATGAAGCATGAGAGAGAGAG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12			chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138776875	GCGGGGCG others(42): Show GCGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	180	0.0056	-49	c.-2- others(64): Show c.-2-5029_-2-4981delAGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138776905	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG03453.hp2 HG02647.hp1 HG02895.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0026 a0001c0002t0005g0050 a0001c0002t0005g0068 a0001c0002t0005g0026 a0001c0002t0005g0050 a0001c0002t0005g0068	3	180	0.0167	-49	c.-2- others(64): Show c.-2-4984_-2-4936delGGGCGGGGGGCTGACTCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCC	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA3_chr10_65907523_67701195	67692035	TGCCCGGC others(42): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	46	0.0217	-49	c.-6+ others(64): Show c.-6+3916_-6+3964delGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	1/17			chr10	TogoVar
CTNNBL1_chr20_37689030_37877118	37718385	GGGACGGG others(42): Show GGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	266	0.0038	-49	c.31- others(66): Show c.31-14485_31-14437delCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGG	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37718394	CGGCTGGC others(42): Show CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	266	0.0038	-49	c.31- others(66): Show c.31-14444_31-14396delGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSS_chr1_150725188_150770778	150728583	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	344	0.0029	-49	c.44 others(60): Show c.4414_*4462delTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGG	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		1604		chr1	TogoVar
CTSS_chr1_150725188_150770778	150744092	TACATAAT others(42): Show TACATAATATATTATATATTATATGTATATTATGTATACATAATATGTAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	2	344	0.0058	-49	c.896 others(66): Show c.896+3636_896+3684delGTACATATTATGTATACATAATATACAT ATAATATATAATATATTATGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112423597	GTGTCTCA others(42): Show GTGTCTCATTTCATTCTCTTAACTGTATCTTAAGAAAAGATACTTAACCT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG02040.hp2 others(5): Show HG00597.hp2 HG00621.hp2 HG02040.hp2 HG02523.hp2 NA18966.hp2 NA18973.hp1 NA18981.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 others(5): Show a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0020g0085	8	324	0.0247	-49	c.99+ others(64): Show c.99+7364_99+7412delAAGAAAAGATACTTAACCTTGTCTCATTTC ATTCTCTTAACTGTATCTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYFIP1_chr15_22862052_22985368	22949227	CCGGGGAC others(42): Show CCGGGGACCAGGCAGGCCGGAGGGCGGGCACAATGTGCCTAAGCCTAAAG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp1 NA18939.hp1 others(1): Show HG02015.hp1 HG02083.hp1 NA18939.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0002t0001g0171 others(1): Show a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0002t0001g0171 a0001c0002t0003g0243	4	342	0.0117	-49	c.-6- others(64): Show c.-6-1985_-6-1937delCTTTAGGCTTAGGCACATTGTGCCCGCCCT CCGGCCTGCCTGGTCCCCG	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22949262	TGCCTAAG others(42): Show TGCCTAAGCCTAAAGCGGGGACCAGGCGGGCCGGAAGGCGGGCACAATGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(134): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0013 others(11): Show a0001c0001 a0001c0002 a0001c0013 a0001c0015 a0001c0032 a0001c0034 a0002c0003 a0002c0004 a0002c0008 a0003c0027 a0004c0036 a0005c0016 a0006c0033 a0009c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0042 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0016 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0032 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0013t0004 a0001c0013t0033 a0001c0015t0001 a0001c0032t0003 a0001c0034t0006 a0002c0003t0001 a0002c0003t0007 a0002c0003t0008 a0002c0003t0009 a0002c0003t0024 a0002c0004t0001 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0013 a0002c0004t0031 a0002c0004t0044 a0002c0008t0001 a0003c0027t0013 a0004c0036t0024 a0005c0016t0002 a0006c0033t0005 a0009c0031t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0032 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0259 a0001c0001t0001g0307 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0002g0019 a0001c0001t0002g0067 a0001c0001t0002g0132 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0176 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0236 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0330 a0001c0001t0003g0015 a0001c0001t0003g0036 a0001c0001t0003g0131 a0001c0001t0003g0153 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0331 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0341 a0001c0001t0004g0008 a0001c0001t0004g0035 a0001c0001t0004g0071 a0001c0001t0004g0087 a0001c0001t0004g0136 a0001c0001t0004g0191 a0001c0001t0004g0212 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0242 a0001c0001t0004g0247 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0319 a0001c0001t0006g0013 a0001c0001t0006g0017 a0001c0001t0006g0038 a0001c0001t0006g0163 a0001c0001t0017g0292 a0001c0001t0017g0295 a0001c0001t0018g0230 a0001c0001t0025g0262 a0001c0001t0026g0166 a0001c0001t0026g0167 a0001c0001t0038g0135 a0001c0001t0042g0084 a0001c0001t0046g0244 a0001c0002t0001g0127 a0001c0002t0001g0138 a0001c0002t0001g0198 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0281 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0333 a0001c0002t0001g0340 a0001c0002t0002g0039 a0001c0002t0002g0105 a0001c0002t0002g0119 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0003g0047 a0001c0002t0003g0200 a0001c0002t0003g0210 a0001c0002t0003g0284 a0001c0002t0004g0004 a0001c0002t0005g0108 a0001c0002t0005g0189 a0001c0002t0007g0021 a0001c0002t0008g0311 a0001c0002t0012g0150 a0001c0002t0012g0267 a0001c0002t0012g0300 a0001c0002t0016g0110 a0001c0002t0016g0133 a0001c0002t0025g0118 a0001c0002t0027g0001 a0001c0002t0029g0146 a0001c0002t0032g0190 a0001c0002t0034g0332 a0001c0002t0035g0221 a0001c0002t0043g0128 a0001c0013t0004g0154 a0001c0013t0033g0245 a0001c0015t0001g0048 a0001c0015t0001g0063 a0001c0032t0003g0273 a0001c0034t0006g0261 a0002c0003t0001g0123 a0002c0003t0007g0264 a0002c0003t0008g0018 a0002c0003t0008g0288 a0002c0003t0009g0074 a0002c0003t0009g0095 a0002c0003t0024g0040 a0002c0004t0001g0182 a0002c0004t0005g0238 a0002c0004t0005g0265 a0002c0004t0005g0302 a0002c0004t0006g0260 a0002c0004t0009g0098 a0002c0004t0013g0094 a0002c0004t0013g0308 a0002c0004t0031g0052 a0002c0004t0044g0072 a0002c0008t0001g0082 a0002c0008t0001g0083 a0003c0027t0013g0078 a0004c0036t0024g0269 a0005c0016t0002g0197 a0005c0016t0002g0211 a0006c0033t0005g0194 a0009c0031t0001g0278	137	342	0.4006	-49	c.-6- others(64): Show c.-6-2020_-6-1972delGCATTGTGCCCGCCTTCCGGCCCGCCTGGT CCCCGCTTTAGGCTTAGGC	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74729118	AGGCCAGC others(42): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG03195.hp1 HG03453.hp2 others(1): Show HG01074.hp2 HG03195.hp1 HG03453.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	4	434	0.0092	-49	c.-37 others(60): Show c.-3756_-3708delGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCC	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		3591		chr15	TogoVar
CYP1A1_chr15_74714542_74730528	74729131	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01258.hp2 others(7): Show HG00642.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG02896.hp2 HG03041.hp2 HG03710.hp1 NA18970.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	434	0.0230	-49	c.-37 others(60): Show c.-3769_-3721delAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGAC	CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding		3604		chr15	TogoVar
CYP7B1_chr8_64585851_64803737	64685837	TCCCCCGC others(42): Show TCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	258	0.0039	-49	c.123 others(68): Show c.123-61347_123-61299delGCTGACCCCCCCACCTCCCTCCCGGA TGGCACGGCTGGCCGGGCGGGGG	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64685846	CGGCCAGC others(42): Show CGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01106.hp2 others(42): Show HG00639.hp1 HG00741.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0046 a0001c0001t0058 a0001c0001t0061	a0001c0001t0001g0194 a0001c0001t0004g0067 a0001c0001t0004g0070 others(42): Show a0001c0001t0001g0194 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0005g0066 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0007g0077 a0001c0001t0007g0079 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0008g0069 a0001c0001t0008g0071 a0001c0001t0014g0068 a0001c0001t0014g0072 a0001c0001t0014g0074 a0001c0001t0014g0075 a0001c0001t0014g0076 a0001c0001t0014g0169 a0001c0001t0017g0087 a0001c0001t0017g0177 a0001c0001t0017g0178 a0001c0001t0017g0179 a0001c0001t0020g0170 a0001c0001t0020g0172 a0001c0001t0020g0173 a0001c0001t0022g0065 a0001c0001t0022g0078 a0001c0001t0025g0100 a0001c0001t0025g0195 a0001c0001t0035g0081 a0001c0001t0036g0101 a0001c0001t0038g0083 a0001c0001t0042g0094 a0001c0001t0046g0019 a0001c0001t0058g0099 a0001c0001t0061g0073	45	258	0.1744	-49	c.123 others(68): Show c.123-61356_123-61308delAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGCACGGCTGGCC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64685860	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01069.hp1 others(8): Show HG00140.hp1 HG00323.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01934.hp2 HG02698.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0012 a0001c0001t0019 a0001c0001t0028 others(2): Show a0001c0001t0012 a0001c0001t0019 a0001c0001t0028 a0001c0001t0041 a0004c0004t0004	a0001c0001t0012g0105 a0001c0001t0012g0107 a0001c0001t0012g0108 others(8): Show a0001c0001t0012g0105 a0001c0001t0012g0107 a0001c0001t0012g0108 a0001c0001t0012g0112 a0001c0001t0019g0109 a0001c0001t0019g0110 a0001c0001t0019g0111 a0001c0001t0028g0103 a0001c0001t0028g0104 a0001c0001t0041g0106 a0004c0004t0004g0188	11	258	0.0426	-49	c.123 others(68): Show c.123-61370_123-61322delCGGCACGGCTGGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar

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Search Results (Total: 1443 hits)