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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDC42_chr1_22047709_22106360	22054903	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0283 a0001c0001t0094g0283	1	352	0.0028	-34	c.-51 others(51): Show c.-51+2163_-51+2196delATATATATATATATATATTTTTTTTTTT TTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC5L_chr6_44382706_44455425	44390929	CATATTTA others(27): Show CATATTTAATATGTTATATATTATATATTAAACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG01884.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0010 a0001c0001t0001 a0001c0003t0010	a0001c0001t0001g0079 a0001c0003t0010g0150 a0001c0001t0001g0079 a0001c0003t0010g0150	2	352	0.0057	-34	c.149 others(49): Show c.149+561_149+594delATTTAATATGTTATATATTATATATTAAAC ATAT		CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDCP1_chr3_45077277_45151378	45108795	ATATATAT others(27): Show ATATATATATATGCATGTATACATATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG02738.hp2 others(2): Show HG00280.hp1 HG01123.hp1 HG02738.hp2 HG02970.hp1 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0014 a0002c0002t0037	a0001c0001t0001g0283 a0001c0001t0003g0320 a0002c0002t0001g0354 others(2): Show a0001c0001t0001g0283 a0001c0001t0003g0320 a0002c0002t0001g0354 a0002c0002t0014g0035 a0002c0002t0037g0352	5	384	0.0130	-34	c.102 others(53): Show c.1024+1644_1024+1677delCATGCATATATATGTATACATGCATA TATATATA		CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8						chr3	TogoVar
CDCP1_chr3_45077277_45151378	45108854	TATATATG others(27): Show TATATATGCATGTATATATATATATGCATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0353 a0001c0001t0002g0353	1	384	0.0026	-34	c.102 others(53): Show c.1024+1585_1024+1618delGTATACATGCATATATATATATACAT GCATATAT		CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8						chr3	TogoVar
CDH10_chr5_24482100_24649978	24626856	ATATATAT others(27): Show ATATATATGTGTATATATAAGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18952.hp1 NA18984.hp2 others(1): Show NA18941.hp2 NA18952.hp1 NA18984.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207	4	290	0.0138	-34	c.-12 others(55): Show c.-124+17704_-124+17737delCACATATATATACACTTATATATA CACATATATA		CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding	1/11						chr5	TogoVar
CDH10_chr5_24482100_24649978	24649139	TACTTAGG others(27): Show TACTTAGGTTGTTAACCACACATCATTCAAAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03209.hp1 HG01891.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0060 a0001c0001t0002g0021 a0001c0001t0002g0060	2	290	0.0069	-34	c.-47 others(45): Show c.-4703_-4670delTAATTTTGAATGATGTGTGGTTAACAACCTAAGT		CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding					4162		chr5	TogoVar
CDH12_chr5_21745673_22858344	22283231	TATATATA others(27): Show TATATATATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	60	0.0167	-34	c.-33 others(55): Show c.-332-70622_-332-70589delGTGTGTGTGTGTGTATATATATAT ATATATATAT		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	3/14						chr5	TogoVar
CDH12_chr5_21745673_22858344	22698707	ATATATAT others(27): Show ATATATATATATATATATATATATATATAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0044 a0001c0001t0008g0044	1	60	0.0167	-34	c.-52 others(57): Show c.-523+154317_-523+154350delACACACTATATATATATATATA TATATATATATA		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14						chr5	TogoVar
CDH12_chr5_21745673_22858344	22698709	ATATATAT others(27): Show ATATATATATATATATATATATATATAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0024 a0001c0001t0009g0024	1	60	0.0167	-34	c.-52 others(57): Show c.-523+154315_-523+154348delACACACACTATATATATATATA TATATATATATA		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	1/14						chr5	TogoVar
CDH13_chr16_82621969_83805640	82684950	CACCTATT others(27): Show CACCTATTTAATGTGTAGTATTCTTGGAGCTGGGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03669.hp2 NA20129.hp1 HG02055.hp2 HG03669.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0034 a0001c0002t0022 a0001c0001t0001 a0001c0001t0034 a0001c0002t0022	a0001c0001t0001g0104 a0001c0001t0034g0010 a0001c0002t0022g0031 a0001c0001t0001g0104 a0001c0001t0034g0010 a0001c0002t0022g0031	3	110	0.0273	-34	c.45+ others(51): Show c.45+57815_45+57848delCCTATTTAATGTGTAGTATTCTTGGAGC TGGGAA		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	82842107	TATATGTA others(27): Show TATATGTATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp1 HG02895.hp2 others(1): Show HG00738.hp2 HG01257.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0007t0004	a0001c0001t0001g0108 a0001c0001t0002g0045 a0001c0004t0003g0058 others(1): Show a0001c0001t0001g0108 a0001c0001t0002g0045 a0001c0004t0003g0058 a0001c0007t0004g0107	4	110	0.0364	-34	c.46- others(51): Show c.46-16250_46-16217delGTATATATATATATATATATATATATAC ACATAT		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83602082	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAGAACAACAACAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01255.hp2 others(9): Show HG01081.hp1 HG01168.hp2 HG01255.hp2 HG01433.hp2 HG01884.hp2 HG02258.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0002t0006 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0003t0004 a0001c0003t0011 a0001c0004t0042 a0001c0005t0047	a0001c0001t0002g0089 a0001c0001t0003g0085 a0001c0001t0026g0070 others(9): Show a0001c0001t0002g0089 a0001c0001t0003g0085 a0001c0001t0026g0070 a0001c0002t0006g0037 a0001c0002t0015g0039 a0001c0002t0017g0014 a0001c0002t0021g0008 a0001c0003t0004g0093 a0001c0003t0004g0110 a0001c0003t0011g0073 a0001c0004t0042g0061 a0001c0005t0047g0078	12	110	0.1091	-34	c.961 others(49): Show c.961-356_961-323delGAACAACAACAAAAAAAAAAAAAAAAAAAA AAAA		CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH17_chr8_94122162_94213555	94168097	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18952.hp2 NA18970.hp1 others(5): Show HG01516.hp2 NA18952.hp2 NA18970.hp1 NA18984.hp1 NA19007.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0010 a0002c0003 a0004c0002 a0001c0010 a0002c0003 a0004c0002	a0001c0010t0001 a0002c0003t0004 a0004c0002t0001 a0001c0010t0001 a0002c0003t0004 a0004c0002t0001	a0001c0010t0001g0325 a0002c0003t0004g0004 a0002c0003t0004g0008 others(5): Show a0001c0010t0001g0325 a0002c0003t0004g0004 a0002c0003t0004g0008 a0002c0003t0004g0009 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0018 a0004c0002t0001g0146	8	338	0.0237	-34	c.106 others(53): Show c.1067-2155_1067-2122delATATATATATATATATATATATATAT ATATATAT		CDH17	ENSG00000079112.10	transcript	ENST00000027335.8	protein_coding	9/17						chr8	TogoVar
CDH18_chr5_19466296_19993200	19469186	AAGAGAAA others(27): Show AAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02647.hp1 others(2): Show HG02145.hp1 HG02572.hp1 HG02647.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0014 a0001c0001t0020 a0001c0001t0031 others(1): Show a0001c0001t0014 a0001c0001t0020 a0001c0001t0031 a0001c0006t0027	a0001c0001t0014g0020 a0001c0001t0014g0120 a0001c0001t0020g0041 others(2): Show a0001c0001t0014g0020 a0001c0001t0014g0120 a0001c0001t0020g0041 a0001c0001t0031g0136 a0001c0006t0027g0129	5	138	0.0362	-34	c.40 others(45): Show c.4006_*4039delCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCT		CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding					2109		chr5	TogoVar
CDH18_chr5_19466296_19993200	19811128	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	138	0.0073	-34	c.228 others(53): Show c.228+27597_228+27630delCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	3/12						chr5	TogoVar
CDH20_chr18_61328430_61560779	61500102	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02451.hp1 HG02572.hp2 others(6): Show HG01123.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03486.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 others(3): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0008 a0001c0007t0009 a0001c0007t0021	a0001c0006t0001g0021 a0001c0006t0001g0082 a0001c0006t0001g0105 others(6): Show a0001c0006t0001g0021 a0001c0006t0001g0082 a0001c0006t0001g0105 a0001c0006t0002g0253 a0001c0006t0003g0200 a0001c0007t0008g0222 a0001c0007t0008g0224 a0001c0007t0009g0228 a0001c0007t0021g0043	9	280	0.0321	-34	c.542 others(49): Show c.542-267_542-234delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH26_chr20_59953423_60019529	59953922	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG02280.hp1 others(1): Show HG00280.hp1 HG01515.hp1 HG02280.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0132 a0001c0001t0002g0135 a0001c0001t0007g0033 others(1): Show a0001c0001t0001g0132 a0001c0001t0002g0135 a0001c0001t0007g0033 a0001c0001t0007g0037	4	288	0.0139	-34	c.-48 others(45): Show c.-4804_-4771delTATATATATATATATATATATATATATATATATA		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4500		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953949	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03579.hp1 NA18906.hp1 HG03209.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0007 a0001c0003t0004 a0001c0004t0008 a0001c0001t0007 a0001c0003t0004 a0001c0004t0008	a0001c0001t0007g0031 a0001c0003t0004g0116 a0001c0004t0008g0155 a0001c0001t0007g0031 a0001c0003t0004g0116 a0001c0004t0008g0155	3	288	0.0104	-34	c.-47 others(45): Show c.-4777_-4744delATATATATATATATATATATATATATATATATAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4473		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953951	TATATATA others(27): Show TATATATATATATATATATATATATATATATAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03942.hp2 HG01884.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0274 a0001c0001t0007g0032 a0001c0001t0002g0274 a0001c0001t0007g0032	2	288	0.0069	-34	c.-47 others(45): Show c.-4775_-4742delATATATATATATATATATATATATATATATAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4471		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953955	TATATATA others(27): Show TATATATATATATATATATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19030.hp1 NA19030.hp2 HG02622.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0011 a0001c0001 a0002c0005 a0002c0011	a0001c0001t0007 a0002c0005t0006 a0002c0011t0031 a0001c0001t0007 a0002c0005t0006 a0002c0011t0031	a0001c0001t0007g0050 a0002c0005t0006g0048 a0002c0011t0031g0014 a0001c0001t0007g0050 a0002c0005t0006g0048 a0002c0011t0031g0014	3	288	0.0104	-34	c.-47 others(45): Show c.-4771_-4738delATATATATATATATATATATATATATAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4467		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953959	TATATATA others(27): Show TATATATATATATATATATATATAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA21309.hp1 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0156 a0001c0001t0020g0052 a0001c0001t0004g0156 a0001c0001t0020g0052	2	288	0.0069	-34	c.-47 others(45): Show c.-4767_-4734delATATATATATATATATATATATAGAGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4463		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953963	TATATATA others(27): Show TATATATATATATATATATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02602.hp1 HG02109.hp2 HG02602.hp1	a0006 a0007 a0006 a0007	a0006c0022 a0007c0008 a0006c0022 a0007c0008	a0006c0022t0009 a0007c0008t0017 a0006c0022t0009 a0007c0008t0017	a0006c0022t0009g0004 a0007c0008t0017g0013 a0006c0022t0009g0004 a0007c0008t0017g0013	2	288	0.0069	-34	c.-47 others(45): Show c.-4763_-4730delATATATATATATATATATAGAGAGAGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4459		chr20	TogoVar
CDH26_chr20_59953423_60019529	59953967	TATATATA others(27): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 NA19079.hp1 HG03490.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0093 a0001c0001t0001g0112 a0001c0001t0002g0093	2	288	0.0069	-34	c.-47 others(45): Show c.-4759_-4726delATATATATATATATAGAGAGAGAGAGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4455		chr20	TogoVar
CDH2_chr18_27945966_28182130	28043457	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0245 a0001c0001t0010g0245	1	268	0.0037	-34	c.173 others(53): Show c.173-29582_173-29549delATATATATATATATATATATATATAT ATATTTAT		CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15						chr18	TogoVar
CDH6_chr5_31188686_31334146	31292822	CATATATA others(27): Show CATATATATATATATATATATATATGTGTGCATAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18941.hp2 NA18949.hp1 others(1): Show HG03239.hp1 NA18941.hp2 NA18949.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0050 a0001c0002t0001 a0001c0002t0050	a0001c0002t0001g0041 a0001c0002t0001g0100 a0001c0002t0001g0254 others(1): Show a0001c0002t0001g0041 a0001c0002t0001g0100 a0001c0002t0001g0254 a0001c0002t0050g0070	4	338	0.0118	-34	c.229 others(51): Show c.229-1121_229-1088delATATATGTGTGCATATATATATATATAT ATATAT		CDH6	ENSG00000113361.13	transcript	ENST00000265071.3	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH9_chr5_26875597_27043586	26896506	GAATAGAA others(27): Show GAATAGAATGAAATGAAAATTTCATTTCATTATAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01257.hp1 HG01258.hp1 others(15): Show HG01123.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 NA18522.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp2 NA18971.hp1 NA18980.hp2 NA19001.hp1 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0038 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0137 a0002c0002t0001g0184 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220	18	240	0.0750	-34	c.125 others(53): Show c.1253+5936_1254-5943delGTATAATGAAATGAAATTTTCATTTC ATTCTATT		CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	7/11						chr5	TogoVar
CDHR5_chr11_611583_629955	628921	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02055.hp1 HG02523.hp2 others(4): Show HG00738.hp1 HG02055.hp1 HG02523.hp2 HG04115.hp2 HG04199.hp2 NA18944.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0054 a0001c0001 a0001c0054	a0001c0001t0001 a0001c0054t0001 a0001c0001t0001 a0001c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0054t0001g0133 a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0054t0001g0133	7	409	0.0171	-34	c.-40 others(45): Show c.-4053_-4020delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding					3967		chr11	TogoVar
CDHR5_chr11_611583_629955	628949	CTTTCTTT others(27): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18946.hp2 NA19002.hp2 others(1): Show NA18943.hp2 NA18946.hp2 NA19002.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	4	409	0.0098	-34	c.-40 others(45): Show c.-4081_-4048delAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAA		CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding					3995		chr11	TogoVar
CDK10_chr16_89681689_89701354	89694806	ACCCGCAG others(27): Show ACCCGCAGCCCCCGCCCGTGCCCACGCCCTCTGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(70): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18971.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0002g0012 a0001c0001t0002g0096 a0001c0001t0008g0111 a0001c0001t0008g0113 a0001c0001t0009g0061 a0001c0001t0009g0112 a0001c0001t0016g0004 a0001c0001t0017g0004 a0001c0002t0001g0018 a0003c0004t0001g0004	73	422	0.1730	-34	c.793 others(47): Show c.793-54_793-21delCGCAGCCCCCGCCCGTGCCCACGCCCTCTGCG CC		CDK10	ENSG00000185324.22	transcript	ENST00000353379.12	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDK12_chr17_39456486_39539544	39481621	GCTCGCTC others(27): Show GCTCGCTCGCGCGCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	260	0.0039	-34	c.193 others(53): Show c.1932-8932_1932-8899delGCTCGCGCGCTCTCTCTCTCTCTCTC TCTCTCTC		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK12_chr17_39456486_39539544	39481678	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02922.hp1 others(5): Show HG02145.hp2 HG02809.hp2 HG02922.hp1 HG03195.hp2 NA18975.hp2 NA18984.hp1 NA19007.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 others(5): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0002t0041	a0001c0001t0009g0088 a0001c0001t0010g0091 a0001c0001t0013g0110 others(5): Show a0001c0001t0009g0088 a0001c0001t0010g0091 a0001c0001t0013g0110 a0001c0001t0015g0101 a0001c0001t0032g0113 a0001c0001t0033g0096 a0001c0001t0036g0092 a0001c0002t0041g0010	8	260	0.0308	-34	c.193 others(53): Show c.1932-8873_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT CTTTCTCT		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK14_chr7_90591321_91215590	91185316	GTCGATAG others(27): Show GTCGATAGCCCCTATGCATCTCCTTTTCCAAAACT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00642.hp2 others(34): Show HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01891.hp1 HG02135.hp2 HG02451.hp2 HG02602.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18979.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0039 a0001c0001t0043	a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0074 others(34): Show a0001c0001t0001g0009 a0001c0001t0001g0053 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0002g0054 a0001c0001t0002g0132 a0001c0001t0003g0070 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0004g0036 a0001c0001t0005g0039 a0001c0001t0005g0055 a0001c0001t0005g0061 a0001c0001t0005g0166 a0001c0001t0007g0129 a0001c0001t0008g0078 a0001c0001t0010g0049 a0001c0001t0011g0043 a0001c0001t0013g0073 a0001c0001t0014g0066 a0001c0001t0015g0099 a0001c0001t0019g0067 a0001c0001t0029g0095 a0001c0001t0030g0038 a0001c0001t0032g0052 a0001c0001t0034g0157 a0001c0001t0039g0062 a0001c0001t0043g0031	37	168	0.2202	-34	c.29 others(53): Show c.29-21846_*29-21813delGATAGCCCCTATGCATCTCCTTTTCC AAAACTTC		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201882647	GTGTGTGT others(27): Show GTGTGTGTGTGCTCGTGCACATGAGTGCACGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02004.hp2 HG01255.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0043 a0001c0001t0008 a0001c0001t0043	a0001c0001t0008g0209 a0001c0001t0043g0256 a0001c0001t0008g0209 a0001c0001t0043g0256	2	322	0.0062	-34	c.119 others(53): Show c.1198+2493_1198+2526delCGTGCACATGAGTGCACGAGCATGTG TGTGTGCT		CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK2AP1_chr12_123255976_123276856	123274870	GAAAAAGA others(27): Show GAAAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0133 a0001c0001t0008g0133	1	328	0.0031	-34	c.-32 others(45): Show c.-3286_-3253delTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTTT		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding					3015		chr12	TogoVar
CDKL3_chr5_134293424_134372171	134326815	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0196 a0001c0001t0001g0198	2	210	0.0095	-34	c.540 others(51): Show c.540-4946_540-4913delTATATATATATATATATATATATATATA TATACA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDS1_chr4_84578127_84656334	84599395	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG02735.hp2 others(4): Show HG01261.hp2 HG01346.hp2 HG02735.hp2 HG03017.hp1 HG04228.hp1 NA18981.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0001 a0001c0001t0003 a0001c0001t0025	a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0220 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0091 a0001c0001t0001g0220 a0001c0001t0003g0014 a0001c0001t0003g0196 a0001c0001t0003g0212 a0001c0001t0025g0213	7	384	0.0182	-34	c.118 others(51): Show c.118-4846_118-4813delCACACACACATATATATATATATATATA TATATA		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDYL_chr6_4771404_4960544	4895421	GCATGTAT others(27): Show GCATGTATACATGTATACGTATATATGCATATATA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19009.hp2 NA19012.hp1 HG04184.hp2 NA19009.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0234 a0001c0001t0002g0090 a0001c0001t0002g0132 a0001c0001t0001g0234 a0001c0001t0002g0090 a0001c0001t0002g0132	3	250	0.0120	-34	c.691 others(51): Show c.691+3054_691+3087delGTATACGTATATATGCATATATACATGT ATACAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM18_chr19_51473539_51496301	51495244	GATGGACG others(27): Show GATGGACGGGTGGGTGGGTGGATGGATGGATGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0004 a0014c0019t0004	a0014c0019t0004g0082 a0014c0019t0004g0082	1	420	0.0024	-34	c.45 others(45): Show c.4593_*4626delATGGACGGGTGGGTGGGTGGATGGATGGATGGAT		CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding					3944		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44510589	AAAGAAAG others(27): Show AAAGAAAGAAAGAAAGAAAGAAAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG03471.hp2 others(6): Show HG02723.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA18948.hp2 NA19002.hp2 NA20300.hp2 NA20905.hp1	a0004 a0009 a0010 others(4): Show a0004 a0009 a0010 a0014 a0022 a0024 a0033	a0004c0003 a0009c0007 a0010c0017 others(4): Show a0004c0003 a0009c0007 a0010c0017 a0014c0020 a0022c0028 a0024c0039 a0033c0037	a0004c0003t0001 a0009c0007t0001 a0010c0017t0001 others(4): Show a0004c0003t0001 a0009c0007t0001 a0010c0017t0001 a0014c0020t0001 a0022c0028t0001 a0024c0039t0001 a0033c0037t0001	a0004c0003t0001g0361 a0004c0003t0001g0364 a0004c0003t0001g0394 others(6): Show a0004c0003t0001g0361 a0004c0003t0001g0364 a0004c0003t0001g0394 a0009c0007t0001g0042 a0010c0017t0001g0399 a0014c0020t0001g0084 a0022c0028t0001g0069 a0024c0039t0001g0271 a0033c0037t0001g0076	9	438	0.0206	-34	c.173 others(51): Show c.1737+407_1737+440delCCTTCCTTCCTTTTTCTTTCTTTCTTTC TTTCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11						chr19	TogoVar
CELF4_chr18_37238040_37570798	37505082	GTTAGGAG others(27): Show GTTAGGAGAAGCAGGGGCAGGGGGCAACTGTCCTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0049 a0001c0001t0024g0049	1	184	0.0054	-34	c.287 others(53): Show c.287-19509_287-19476delTAGGACAGTTGCCCCCTGCCCCTGCT TCTCCTAA		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12						chr18	TogoVar
CELF5_chr19_3219661_3302076	3267065	CTGTGTGT others(27): Show CTGTGTGTGCGTGTGCGTGTGTGCATGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0234 a0001c0001t0005g0214 a0001c0001t0004g0234 a0001c0001t0005g0214	2	262	0.0076	-34	c.343 others(51): Show c.343-6784_343-6751delCATGTGTGTGTGTGTGTGTGCGTGTGCG TGTGTG		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3301091	CAAGCTCC others(27): Show CAAGCTCCGTTTCCCAGGTTCACGCCATTCTCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	262	0.0038	-34	c.43 others(45): Show c.4375_*4408delAAGCTCCGTTTCCCAGGTTCACGCCATTCTCCTG		CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding					4016		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46469899	CTGCATCC others(27): Show CTGCATCCGTCACATCTAGAACAGCTCCTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0060 a0001c0001t0014g0060	1	104	0.0096	-34	c.354 others(53): Show c.3545-5588_3545-5555delAGTGCCAGGAGCTGTTCTAGATGTGA CGGATGCA		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEL_chr9_133056981_133076861	133071435	GCCCCCCC others(27): Show GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGC	G G	frameshift_variant frameshift_variant	HIGH	HG01123.hp1 HG01123.hp1	a0039 a0039	a0039c0176 a0039c0176	a0039c0176t0001 a0039c0176t0001	a0039c0176t0001g0001 a0039c0176t0001g0001	1	416	0.0024	-34	c.194 others(43): Show c.1941_1974delCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1963/2381	1941/2262	647/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0005 a0001c0024t0005	a0001c0024t0005g0120 a0001c0024t0005g0120	1	254	0.0039	-34	c.-17 others(55): Show c.-175-24566_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900616	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	254	0.0039	-34	c.141 others(53): Show c.1411+4568_1411+4601delGTGTGTGTGTGTGTGTGTGTGTCTGT GTGTGTGT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPJ_chr13_24877279_24927861	24882128	ATATAGAT others(27): Show ATATAGATAGATACATCTATATAGATAGATACATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02523.hp1 others(20): Show HG01943.hp1 HG01993.hp2 HG02523.hp1 HG04184.hp1 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18957.hp2 NA18964.hp1 NA18970.hp1 NA18972.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA19010.hp1 NA19054.hp2 NA19058.hp2 NA19065.hp2 NA19085.hp2 NA19088.hp2	a0003 a0005 a0014 others(1): Show a0003 a0005 a0014 a0015	a0003c0005 a0005c0007 a0014c0028 others(1): Show a0003c0005 a0005c0007 a0014c0028 a0015c0030	a0003c0005t0005 a0003c0005t0018 a0005c0007t0005 others(2): Show a0003c0005t0005 a0003c0005t0018 a0005c0007t0005 a0014c0028t0005 a0015c0030t0005	a0003c0005t0005g0001 a0003c0005t0005g0193 a0003c0005t0005g0194 others(10): Show a0003c0005t0005g0001 a0003c0005t0005g0193 a0003c0005t0005g0194 a0003c0005t0005g0195 a0003c0005t0005g0196 a0003c0005t0005g0198 a0003c0005t0018g0284 a0005c0007t0005g0021 a0005c0007t0005g0022 a0005c0007t0005g0190 a0005c0007t0005g0192 a0014c0028t0005g0187 a0015c0030t0005g0199	23	440	0.0523	-34	c.10 others(45): Show c.1015_*1048delGATGTATCTATCTATATAGATGTATCTATCTATA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					150		chr13	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(60): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02083.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18992.hp1 NA18999.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(57): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0003c0004t0002g0067	63	374	0.1685	-34	c.597 others(49): Show c.597+920_597+953delATATATATATATATATATATATATATATAT ATAT		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10						chr5	TogoVar
CENPT_chr16_67823157_67852693	67851759	TAATCCCA others(27): Show TAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	266	0.0038	-34	c.-48 others(45): Show c.-4884_-4851delTCCACCCACCTCAGCCTCCCAAAGTGCTGGGATT		CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding					4067		chr16	TogoVar
CEP112_chr17_65630537_66197133	65920362	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0048 a0003c0005t0001g0048	1	112	0.0089	-34	c.198 others(53): Show c.1980+7186_1980+7219delATATATATATATATATATATATATAT ATATATAT		CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	19/26						chr17	TogoVar

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