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
CAPZA2_chr7_116857587_116927049	116890553	TATATATA others(39): Show TATATATATATATATACACATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0110 a0001c0001t0015g0110	1	354	0.0028	-46	c.103 others(63): Show c.103+2365_104-2394delTATATATATATATACACATATATATATA TATATATATATATATACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890555	TATATATA others(39): Show TATATATATATATACACATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0087 a0001c0002t0031g0087	1	354	0.0028	-46	c.103 others(63): Show c.103+2367_104-2392delTATATATATATACACATATATATATATA TATATATATATATACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890561	TATATATA others(39): Show TATATATACACATATATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	354	0.0028	-46	c.103 others(63): Show c.103+2373_104-2386delTATATACACATATATATATATATATATA TATATATACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116893290	CTGGCTAA others(39): Show CTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCTTATTG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	354	0.0028	-46	c.155 others(61): Show c.155+246_155+291delTGGCTAATTTTTGTATTTTTAGTAGAGATG GGGTTTTACCTTATTG	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	3/9			chr7	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02622.hp1 others(2): Show HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 others(2): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0006 a0001c0001t0026g0008	5	164	0.0305	-46	c.172 others(65): Show c.172+23373_172+23418delATATATATATATATATATATATATAT ATATATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASR_chr3_122178668_122296629	122201632	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp2 others(53): Show HG00099.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp2 HG02155.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19086.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0037 a0001c0001t0040 a0002c0002t0002 a0002c0002t0025 a0002c0002t0029 a0002c0008t0002 a0003c0005t0011 a0004c0003t0045	a0001c0001t0001g0008 a0001c0001t0001g0121 a0001c0001t0001g0134 others(51): Show a0001c0001t0001g0008 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0002g0112 a0001c0001t0003g0016 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0259 a0001c0001t0003g0265 a0001c0001t0005g0119 a0001c0001t0005g0130 a0001c0001t0005g0132 a0001c0001t0006g0104 a0001c0001t0006g0120 a0001c0001t0006g0122 a0001c0001t0007g0114 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0009g0108 a0001c0001t0009g0127 a0001c0001t0009g0133 a0001c0001t0009g0260 a0001c0001t0010g0128 a0001c0001t0010g0131 a0001c0001t0013g0005 a0001c0001t0013g0102 a0001c0001t0013g0103 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0269 a0001c0001t0023g0111 a0001c0001t0024g0125 a0001c0001t0037g0135 a0001c0001t0040g0264 a0002c0002t0002g0113 a0002c0002t0002g0262 a0002c0002t0002g0266 a0002c0002t0025g0129 a0002c0002t0029g0261 a0002c0008t0002g0267 a0002c0008t0002g0268 a0003c0005t0011g0116 a0004c0003t0045g0263	56	314	0.1783	-46	c.-24 others(67): Show c.-243+17853_-243+17898delCAGGCGGGGGCTGACCCCCACCTC CCTCCCGGACGGGGCGGCTGGC	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAV1_chr7_116520036_116566179	116555508	GAAAGAAA others(39): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03017.hp1 others(4): Show HG01256.hp2 HG01258.hp2 HG03017.hp1 HG03139.hp2 HG03453.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0007 a0001c0001t0004g0087 a0001c0001t0004g0311 others(2): Show a0001c0001t0004g0007 a0001c0001t0004g0087 a0001c0001t0004g0311 a0001c0001t0004g0317 a0001c0001t0005g0011	7	342	0.0205	-46	c.196 others(63): Show c.196-3436_196-3391delAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAAAGAAAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33536432	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG02109.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0040 a0001c0001t0037 a0001c0001t0040	a0001c0001t0037g0296 a0001c0001t0040g0295 a0001c0001t0037g0296 a0001c0001t0040g0295	2	298	0.0067	-46	c.34+ others(63): Show c.34+46156_34+46201delCGGCTGGCCTGGCGGGGGCTGACCCCCA CCTCCCTCCCGGACGGGG	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88930694	TGGGGAGG others(39): Show TGGGGAGGGGGCAGACTGGGGGCTGGGGGTGGAGGAGCGAGGAGATG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02523.hp1 HG02602.hp1 HG00642.hp2 HG02523.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0183 a0001c0001t0001g0015 a0001c0001t0001g0060 a0001c0001t0001g0183	3	284	0.0106	-46	c.152 others(65): Show c.152-29084_152-29039delCATCTCCTCGCTCCTCCACCCCCAGC CCCCAGTCTGCCCCCTCCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC15_chr11_124949202_125046489	125043248	CGCTCTGT others(39): Show CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0222 a0001c0001t0006g0222	1	350	0.0029	-46	c.25 others(57): Show c.2538_*2583delGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACT	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding		1760		chr11	TogoVar
CCDC18_chr1_93175724_93283730	93275028	CTGTGGTA others(39): Show CTGTGGTAGTGACCACCTCATAGTCATTTATATGTATGTTGCATTAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0175	1	316	0.0032	-46	c.435 others(65): Show c.4354-3433_4354-3388delGTGGTAGTGACCACCTCATAGTCATT TATATGTATGTTGCATTAAT	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC66_chr3_56552175_56626837	56584012	GGGGGGCT others(39): Show GGGGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	372	0.0027	-46	c.937 others(63): Show c.937-8859_937-8814delTGCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGC	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC6_chr10_59783747_59911556	59882003	TGGGGAGA others(39): Show TGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02615.hp1 HG01261.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0003 a0002c0002t0001 a0001c0007t0003 a0002c0002t0001	a0001c0007t0003g0213 a0002c0002t0001g0215 a0001c0007t0003g0213 a0002c0002t0001g0215	2	288	0.0069	-46	c.303 others(65): Show c.303+24073_303+24118delCTGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCL17_chr16_57399767_57421063	57403552	TATATATA others(39): Show TATATATATATAATATATATTTATAATATATATAATATATATTTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	388	0.0026	-46	c.-13 others(57): Show c.-1343_-1298delATATATATATAATATATATTTATAATATATATAA TATATATTTATA	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1214		chr16	TogoVar
CD163L1_chr12_7349960_7449153	7421298	TATGTATA others(39): Show TATGTATATATACATTTGGAAGATATATATGTATATATATCTTCCAA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	384	0.0026	-46	c.766 others(65): Show c.766+11072_766+11117delTTGGAAGATATATATACATATATATC TTCCAAATGTATATATACAT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD3G_chr11_118339344_118360161	118355437	GTGTATAT others(39): Show GTGTATATATACACATATACGTATATGTATATATACATATATGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02273.hp2 HG01952.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	2	442	0.0045	-46	c.23 others(57): Show c.2338_*2383delTGTATATATACACATATACGTATATGTATATATA CATATATGTATA	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		277		chr11	TogoVar
CD5_chr11_61097489_61132852	61100556	ACACACAC others(39): Show ACACACACACATCAACATGGAGATCACACACACATCAACATGGAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0117 a0007c0007t0001g0117	1	244	0.0041	-46	c.-20 others(57): Show c.-2004_-1959delCACACACACATCAACATGGAGATCACACACACAT CAACATGGAGAT	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		1932		chr11	TogoVar
CDADC1_chr13_49242925_49298485	49275710	TATATATA others(39): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0046 a0001c0001t0007g0013 a0001c0001t0007g0046	2	368	0.0054	-46	c.105 others(65): Show c.1050+1372_1050+1417delTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDADC1_chr13_49242925_49298485	49275716	TATATATA others(39): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	368	0.0027	-46	c.105 others(65): Show c.1050+1378_1050+1423delTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC14C_chr7_48919547_48932454	48923234	TTTCTTAG others(39): Show TTTCTTAGCAAGAACCAGGTCTCTAGCAAAGAGCAAACATTCAGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0000 a0007c0018t0001g0000	1	462	0.0022	-46	c.-14 others(57): Show c.-1438_-1393delTTCTTAGCAAGAACCAGGTCTCTAGCAAAGAGCA AACATTCAGTAA	CDC14C	ENSG00000218305.5	transcript	ENST00000650262.2	protein_coding		1312		chr7	TogoVar
CDC34_chr19_526760_547087	534458	CTGAGTGC others(39): Show CTGAGTGCCCTCCCTGTCCAGACCTCACCCACGATCCAAGACCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(142): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03041.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0002c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0006t0002 a0001c0007t0002 a0002c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 others(75): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0007g0001 a0001c0001t0007g0145 a0001c0001t0012g0177 a0001c0003t0001g0127 a0001c0003t0002g0126 a0001c0005t0002g0173 a0001c0006t0002g0021 a0001c0007t0002g0052 a0002c0004t0002g0160	145	328	0.4421	-46	c.178 others(63): Show c.178-1378_178-1333delTGAGTGCCCTCCCTGTCCAGACCTCACC CACGATCCAAGACCCCCT	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4			chr19	TogoVar
CDC42_chr1_22047709_22106360	22054903	ATATATAT others(39): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19088.hp1 NA18973.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0079 a0001c0001t0057 a0001c0001t0079	a0001c0001t0057g0269 a0001c0001t0079g0270 a0001c0001t0057g0269 a0001c0001t0079g0270	2	352	0.0057	-46	c.-51 others(63): Show c.-51+2163_-51+2208delATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054907	ATATATAT others(39): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18943.hp2 NA18945.hp2 others(3): Show HG00408.hp2 NA18943.hp2 NA18945.hp2 NA18991.hp1 NA19054.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0082 a0001c0001t0001g0228 a0001c0001t0001g0296 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0228 a0001c0001t0001g0296 a0001c0001t0002g0129 a0001c0001t0002g0229 a0001c0001t0012g0297	6	352	0.0171	-46	c.-51 others(63): Show c.-51+2167_-51+2212delATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054909	ATATATAT others(39): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	352	0.0028	-46	c.-51 others(63): Show c.-51+2169_-51+2214delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH12_chr5_21745673_22858344	22117478	TTATATAT others(39): Show TTATATATATATTATATATATATAATATATATATAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02647.hp1 others(3): Show HG02258.hp1 HG02572.hp2 HG02647.hp1 HG02809.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0002t0004 a0001c0002t0023 a0001c0002t0024	a0001c0001t0002g0021 a0001c0001t0016g0045 a0001c0001t0017g0025 others(3): Show a0001c0001t0002g0021 a0001c0001t0016g0045 a0001c0001t0017g0025 a0001c0002t0004g0008 a0001c0002t0023g0046 a0001c0002t0024g0007	6	60	0.1000	-46	c.-18 others(67): Show c.-186-38662_-186-38617delTTATATATATATTATATATATATT ATATATATATAATATATATATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	4/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82842093	TATATATA others(39): Show TATATATATATATATATATGTATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(13): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01168.hp1 HG01433.hp1 HG01884.hp2 HG02257.hp2 HG02622.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0026 a0001c0001t0036 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0004t0003 a0001c0004t0004 a0001c0005t0039 a0001c0006t0006 a0002c0012t0002	a0001c0001t0001g0104 a0001c0001t0002g0046 a0001c0001t0006g0033 others(13): Show a0001c0001t0001g0104 a0001c0001t0002g0046 a0001c0001t0006g0033 a0001c0001t0008g0067 a0001c0001t0013g0006 a0001c0001t0026g0070 a0001c0001t0036g0002 a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0005g0101 a0001c0002t0007g0100 a0001c0004t0003g0103 a0001c0004t0004g0083 a0001c0005t0039g0017 a0001c0006t0006g0069 a0002c0012t0002g0019	16	110	0.1455	-46	c.46- others(63): Show c.46-16267_46-16222delTATATATATATATATATGTATATATATA TATATATATATATATACA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	82842095	TATATATA others(39): Show TATATATATATATATATGTATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp2 HG01255.hp2 others(8): Show HG01099.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG02258.hp2 HG02698.hp2 HG03491.hp1 HG03491.hp2 HG03942.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0043 a0001c0004t0003 a0001c0004t0042 a0001c0010t0003	a0001c0001t0001g0024 a0001c0001t0002g0028 a0001c0001t0007g0041 others(8): Show a0001c0001t0001g0024 a0001c0001t0002g0028 a0001c0001t0007g0041 a0001c0001t0018g0072 a0001c0002t0001g0097 a0001c0002t0005g0082 a0001c0002t0006g0037 a0001c0003t0043g0094 a0001c0004t0003g0096 a0001c0004t0042g0061 a0001c0010t0003g0062	11	110	0.1000	-46	c.46- others(63): Show c.46-16250_46-16205delGTATATATATATATATATATATATATAC ACATATATATATATATAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89176679	TGAAGGAG others(39): Show TGAAGGAGCTCAGGAGCAGGCCGCGAAGACGGTGATGTGGAGATGGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02647.hp1 others(3): Show HG02109.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	6	406	0.0148	-46	c.43- others(61): Show c.43-2708_43-2663delCGGTGATGTGGAGATGGGGAAGGAGCTCAG GAGCAGGCCGCGAAGA	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89182095	TCCCCTCC others(39): Show TCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTC	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	406	0.0025	-46	c.358 others(63): Show c.358-1449_358-1404delCTCCCCCAGCCTGCCCTCCCCCAGCCTG CCCTCCCCCAGCCTCCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89188357	GATGCCGG others(39): Show GATGCCGGCACACACAGATGCCCACACACAGATGCCGGCACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	406	0.0025	-46	c.978 others(61): Show c.978+164_978+209delCATGCCGGCACACACAGATGCCCACACACA GATGCCGGCACACACA	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH15_chr16_89166748_89200492	89188666	CCACACAC others(39): Show CCACACACAGATGCCGGCACACACAGATGCCCACGCACAGATGGCGG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0156 a0002c0004t0001g0156	1	406	0.0025	-46	c.978 others(61): Show c.978+412_978+457delCACGCACAGATGGCGGCACACACAGATGCC GGCACACACAGATGCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61565344	TCCTCTTG others(39): Show TCCTCTTGGTGATGGGGTGATGGTGGTGGTGGTCCTCTTGGTGATGG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG01358.hp1 others(4): Show HG00639.hp1 HG01106.hp1 HG01358.hp1 HG01978.hp2 HG02451.hp2 HG03209.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0002c0002t0005 a0002c0004t0002 a0002c0015t0007	a0001c0001t0001g0046 a0001c0001t0002g0059 a0001c0001t0009g0019 others(4): Show a0001c0001t0001g0046 a0001c0001t0002g0059 a0001c0001t0009g0019 a0001c0003t0001g0020 a0002c0002t0005g0014 a0002c0004t0002g0080 a0002c0015t0007g0025	7	106	0.0660	-46	c.170 others(67): Show c.170-178218_170-178173delCCTCTTGGTGATGGGGTGATGGTG GTGGTGGTCCTCTTGGTGATGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDHR5_chr11_611583_629955	628909	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	409	0.0024	-46	c.-40 others(57): Show c.-4053_-4008delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding		3955		chr11	TogoVar
CDK12_chr17_39456486_39539544	39481666	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0100 a0001c0001t0015g0100	1	260	0.0039	-46	c.193 others(65): Show c.1932-8885_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK5RAP1_chr20_33353839_33406519	33389467	GCAGCCGC others(39): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCCGGC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	358	0.0028	-46	c.545 others(63): Show c.545-1980_545-1935delGCCGGGCGGGGGCTGACCCCCACCTCCC TCCCGGACGGGGCGGCTG	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	5/13			chr20	TogoVar
CDYL_chr6_4771404_4960544	4895358	TGTGCATA others(39): Show TGTGCATATATGCATGTATGTATATATGTGCATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	250	0.0040	-46	c.691 others(63): Show c.691+2980_691+3025delGTGCATATATGCATGTATGTATATATGT GCATATATGCATGTATAC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CECR2_chr22_17364460_17563151	17561754	CATGTGCT others(39): Show CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0048 a0002c0002t0021 a0001c0009t0048 a0002c0002t0021	a0001c0009t0048g0273 a0002c0002t0021g0323 a0001c0009t0048g0273 a0002c0002t0021g0323	2	324	0.0062	-46	c.89 others(57): Show c.8915_*8960delATGTGCTGTGTCCACTCAGGGTTAAATGGATTAA GGGCGGTGCAAG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding		3604		chr22	TogoVar
CEP128_chr14_80491479_80946738	80946308	TTGATGCC others(39): Show TTGATGCCTCATGATGCATCATGATGATGCCTCATGATGCATCATGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02109.hp2 HG02647.hp2 others(7): Show HG02083.hp1 HG02109.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03139.hp2 HG03516.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0012	a0001c0001 a0001c0009 a0001c0022 others(3): Show a0001c0001 a0001c0009 a0001c0022 a0002c0002 a0010c0017 a0012c0020	a0001c0001t0004 a0001c0009t0006 a0001c0022t0005 others(3): Show a0001c0001t0004 a0001c0009t0006 a0001c0022t0005 a0002c0002t0003 a0010c0017t0001 a0012c0020t0004	a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(7): Show a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0009t0006g0153 a0001c0009t0006g0154 a0001c0022t0005g0015 a0002c0002t0003g0085 a0010c0017t0001g0007 a0012c0020t0004g0163	10	164	0.0610	-46	c.-49 others(57): Show c.-4945_-4900delTCATGATGCATCATGAGGCATCATCATGATGCAT CATGAGGCATCA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding		4571		chr14	TogoVar
CEP162_chr6_84119250_84232643	84225692	CATACAAG others(39): Show CATACAAGAAAAATAATTAATGTGCTAAGTGCTATAAAAAGAATTAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02257.hp1 others(5): Show HG01109.hp1 HG02109.hp1 HG02257.hp1 HG02717.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0008 others(2): Show a0001c0004 a0001c0005 a0001c0008 a0002c0002 a0002c0012	a0001c0004t0007 a0001c0005t0005 a0001c0008t0005 others(2): Show a0001c0004t0007 a0001c0005t0005 a0001c0008t0005 a0002c0002t0007 a0002c0012t0002	a0001c0004t0007g0207 a0001c0005t0005g0208 a0001c0008t0005g0203 others(5): Show a0001c0004t0007g0207 a0001c0005t0005g0208 a0001c0008t0005g0203 a0001c0008t0005g0204 a0001c0008t0005g0205 a0001c0008t0005g0206 a0002c0002t0007g0202 a0002c0012t0002g0193	8	214	0.0374	-46	c.57+ others(59): Show c.57+599_57+644delTTAATTCTTTTTATAGCACTTAGCACATTAAT TATTTTTCTTGTAT	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	2/26			chr6	TogoVar
CEP76_chr18_12667625_12707723	12693746	GCACTCCA others(39): Show GCACTCCAACCTGGCGACAGAGCGAGACTCTGTCTGAAAAAAACAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	380	0.0026	-46	c.804 others(63): Show c.804+1462_804+1507delTTTGTTTTTTTCAGACAGAGTCTCGCTC TGTCGCCAGGTTGGAGTG	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	6/11			chr18	TogoVar
CERCAM_chr9_128415857_128442347	128437940	CACACACG others(39): Show CACACACGTATATACACGTATATACACACACGTATATACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	400	0.0025	-46	c.10 others(57): Show c.1093_*1138delACACACGTATATACACGTATATACACACACGTAT ATACACGTATAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		594		chr9	TogoVar
CFAP54_chr12_96484577_96880555	96664731	ATATATAT others(39): Show ATATATATCTATATATATATATATCTATATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0028 a0028	a0028c0079 a0028c0079	a0028c0079t0001 a0028c0079t0001	a0028c0079t0001g0184 a0028c0079t0001g0184	1	268	0.0037	-46	c.556 others(63): Show c.5563+807_5563+852delCTATATATATATATATCTATATATATCT ATATCTATATCTATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(39): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02630.hp2 others(6): Show HG01884.hp2 HG02622.hp2 HG02630.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0218 a0001c0011t0001g0262	9	308	0.0292	-46	c.167 others(65): Show c.1674+2919_1675-2921delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104396394	GAGAGAGA others(39): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 NA20300.hp2 HG02976.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061	3	308	0.0097	-46	c.167 others(65): Show c.1674+2933_1675-2907delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(39): Show CACATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(56): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG01081.hp2 HG01256.hp1 HG01261.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp1 HG03098.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19078.hp1 NA19083.hp2 NA19085.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0014 a0002c0002 a0011c0014	a0002c0002t0001 a0011c0014t0001 a0002c0002t0001 a0011c0014t0001	a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(56): Show a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0011c0014t0001g0054	59	220	0.2682	-46	c.244 others(65): Show c.2449+6443_2450-6401delATATATATATATATATATATATATAT ATATATATATATATATATGT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFTR_chr7_117475025_117673665	117612008	TATATATA others(39): Show TATATATATATATATGTATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG01070.hp1 others(36): Show HG00323.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01943.hp2 HG02040.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18966.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0020 a0009c0015 a0013c0013	a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 others(6): Show a0001c0001t0002 a0001c0003t0003 a0001c0004t0002 a0001c0005t0006 a0001c0008t0003 a0001c0008t0010 a0002c0020t0002 a0009c0015t0003 a0013c0013t0003	a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 others(35): Show a0001c0001t0002g0195 a0001c0003t0003g0001 a0001c0003t0003g0021 a0001c0003t0003g0026 a0001c0003t0003g0040 a0001c0003t0003g0048 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0116 a0001c0003t0003g0134 a0001c0003t0003g0141 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0155 a0001c0003t0003g0178 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0187 a0001c0003t0003g0190 a0001c0004t0002g0115 a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0128 a0001c0004t0002g0129 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0004t0002g0132 a0001c0004t0002g0137 a0001c0004t0002g0186 a0001c0005t0006g0038 a0001c0008t0003g0139 a0001c0008t0010g0133 a0002c0020t0002g0079 a0009c0015t0003g0074 a0013c0013t0003g0136	39	202	0.1931	-46	c.336 others(63): Show c.3367+214_3367+259delTGTATATATATATATATATATATATATA TATACATATATATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHD7_chr8_60673740_60873028	60678649	GGCGCGGG others(39): Show GGCGCGGGCGCGGGCGCGGCGCGGCCCGGAGGGAGCTGGCGGCGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0032 a0001c0001t0013g0032	1	236	0.0042	-46	c.-60 others(55): Show c.-607_-562delGCGCGGGCGCGGGCGCGGCGCGGCCCGGAGGGAGCT GGCGGCGGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding		90		chr8	TogoVar
CHP2_chr16_23750026_23763935	23763086	TGTTGTTA others(39): Show TGTTGTTACTACCCAAAATCATCTTGTGTATGTGAGTGGTGTGTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-46	c.55 others(57): Show c.5504_*5549delGTTGTTACTACCCAAAATCATCTTGTGTATGTGA GTGGTGTGTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		4152		chr16	TogoVar
CHRNA4_chr20_63338223_63366349	63366105	AACTCCCT others(39): Show AACTCCCTGCCCTCGGCTGCGCTCCCAGCTCCCTGCCCTCTCCTGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	168	0.0060	-46	c.-49 others(57): Show c.-4986_-4941delACCAGGAGAGGGCAGGGAGCTGGGAGCGCAGCCG AGGGCAGGGAGT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		4757		chr20	TogoVar
CHRNB4_chr15_78619111_78646210	78632207	TTCTTTCT others(39): Show TTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp2 HG01192.hp2 others(6): Show HG01069.hp2 HG01106.hp2 HG01192.hp2 HG02559.hp2 HG03130.hp1 HG03225.hp2 HG03579.hp2 NA18974.hp2 NA19062.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 a0002c0002t0001 a0004c0007t0004	a0001c0001t0001g0160 a0001c0001t0002g0019 a0001c0001t0003g0109 others(4): Show a0001c0001t0001g0160 a0001c0001t0002g0019 a0001c0001t0003g0109 a0001c0006t0002g0057 a0002c0002t0001g0220 a0004c0007t0004g0117 a0004c0007t0004g0118	9	416	0.0216	-46	c.205 others(61): Show c.205-921_205-876delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar

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Search Results (Total: 1419 hits)