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
CDH11_chr16_64938753_65127063	65033736	C C	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02132.hp1 HG02486.hp2 others(6): Show HG00544.hp2 HG02132.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 NA18995.hp1 NA19065.hp2 NA19072.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0004c0004t0003 a0004c0004t0009	a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0001g0153 a0001c0001t0001g0238 a0001c0001t0004g0247 a0001c0001t0004g0248 a0004c0004t0003g0057 a0004c0004t0009g0281	9	308	0.0292	25	c.-17 others(46): Show c.-173+20043_-173+20067dupTTTTATTTTATTTTATTTTATTTT A	CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding	2/12			chr16	TogoVar
CDH12_chr5_21745673_22858344	22489056	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG02572.hp2 others(2): Show HG00639.hp2 HG01070.hp2 HG02572.hp2 HG03209.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0003 a0002c0004t0003 a0001c0001t0002 a0001c0002t0003 a0002c0004t0003	a0001c0001t0002g0021 a0001c0002t0003g0022 a0001c0002t0003g0052 others(2): Show a0001c0001t0002g0021 a0001c0002t0003g0022 a0001c0002t0003g0052 a0002c0004t0003g0016 a0002c0004t0003g0041	5	60	0.0833	25	c.-42 others(46): Show c.-428+16213_-428+16214insAAAAAAAAAAAAAAAAAAAAAAAA A	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH13_chr16_82621969_83805640	82896276	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	110	0.0091	25	c.157 others(44): Show c.157+37812_157+37836dupTTTTTTTTTTTTTTTTTTTTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83186080	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	110	0.0091	25	c.484 others(44): Show c.484-31216_484-31192dupTATTTTATTTTATTTTATTTTATTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83216427	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	110	0.0091	25	c.484 others(40): Show c.484-901_484-900insTATATATAATATATATATATATATA	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83301024	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0092 a0001c0002t0013g0092	1	110	0.0091	25	c.637 others(44): Show c.637-43838_637-43837insTTTTTTTTTTTTTTTTTTTTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	5/13			chr16	TogoVar
CDH13_chr16_82621969_83805640	83500314	C C	CTTCTTCT others(18): Show CTTCTTCTTCTTCTTCTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	110	0.0091	25	c.960 others(44): Show c.960+13659_960+13660insTTCTTCTTCTTCTTCTTCTTTTTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13			chr16	TogoVar
CDH13_chr16_82621969_83805640	83500360	C C	CTTTTCTT others(18): Show CTTTTCTTCTTCTTTTCTTCTTCTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	110	0.0091	25	c.960 others(44): Show c.960+13705_960+13706insTTTTCTTCTTCTTTTCTTCTTCTTT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13			chr16	TogoVar
CDH13_chr16_82621969_83805640	83570971	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0069 a0001c0006t0006g0069	1	110	0.0091	25	c.961 others(44): Show c.961-31483_961-31482insTATATATATATATATATATATATAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	7/13			chr16	TogoVar
CDH18_chr5_19466296_19993200	19748112	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02055.hp1 HG02027.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0004 a0001c0001t0032	a0001c0001t0004g0075 a0001c0001t0032g0138 a0001c0001t0004g0075 a0001c0001t0032g0138	2	138	0.0145	25	c.229 others(40): Show c.229-877_229-876insTTTTTTTTTTTTTTTTTTTTTTTTT	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	3/12			chr5	TogoVar
CDH18_chr5_19466296_19993200	19774426	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01433.hp2 others(5): Show HG00741.hp1 HG00741.hp2 HG01433.hp2 HG01515.hp1 HG02145.hp1 HG02451.hp1 HG03486.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0021 a0001c0002t0008 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0002t0008 a0001c0003t0001 a0001c0006t0027	a0001c0001t0001g0036 a0001c0001t0001g0079 a0001c0001t0001g0080 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0021g0117 a0001c0002t0008g0128 a0001c0003t0001g0107 a0001c0006t0027g0129	8	138	0.0580	25	c.229 others(44): Show c.229-27191_229-27190insTTTTATTTTATTTTATTTTATTTTA	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	3/12			chr5	TogoVar
CDH20_chr18_61328430_61560779	61417578	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0004 a0001c0005t0009g0004	1	280	0.0036	25	c.-15 others(46): Show c.-152-72821_-152-72797dupAAAAAAAAAAAAAAAAAAAAAAAA A	CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH23_chr10_71391920_71820947	71427195	G G	GAAGAAAG others(18): Show GAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0015 a0015	a0015c0042 a0015c0042	a0015c0042t0020 a0015c0042t0020	a0015c0042t0020g0001 a0015c0042t0020g0001	1	196	0.0051	25	c.-5- others(42): Show c.-5-12631_-5-12630insAGAAAGAAAGAAAGAAAGAAAGAAA	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71495835	A A	AGGAAGGA others(18): Show AGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02897.hp2 HG00735.hp1 HG02897.hp2	a0105 a0106 a0105 a0106	a0105c0133 a0106c0132 a0105c0133 a0106c0132	a0105c0133t0007 a0106c0132t0001 a0105c0133t0007 a0106c0132t0001	a0105c0133t0007g0189 a0106c0132t0001g0144 a0105c0133t0007g0189 a0106c0132t0001g0144	2	196	0.0102	25	c.146 others(44): Show c.146-14246_146-14245insGAAGGAAGGAAGGAAGGAAGGAAGG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	3/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH4_chr20_61247261_61945617	61714021	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0011 a0002c0004t0003g0011	1	106	0.0094	25	c.170 others(44): Show c.170-29523_170-29499dupTATTTTATTTTATTTTATTTTATTT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61714023	T T	TTTATGTT others(18): Show TTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02148.hp2 HG02809.hp1 others(3): Show HG01123.hp1 HG02148.hp2 HG02809.hp1 HG03130.hp2 NA18906.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0012 others(3): Show a0001c0001 a0001c0006 a0001c0012 a0001c0023 a0002c0004 a0004c0019	a0001c0001t0002 a0001c0006t0049 a0001c0012t0001 others(3): Show a0001c0001t0002 a0001c0006t0049 a0001c0012t0001 a0001c0023t0044 a0002c0004t0013 a0004c0019t0001	a0001c0001t0002g0088 a0001c0006t0049g0071 a0001c0012t0001g0008 others(3): Show a0001c0001t0002g0088 a0001c0006t0049g0071 a0001c0012t0001g0008 a0001c0023t0044g0084 a0002c0004t0013g0021 a0004c0019t0001g0015	6	106	0.0566	25	c.170 others(44): Show c.170-29536_170-29535insGTTATGTTATGTTATGTTATGTTAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782063	T T	TTCCCTTC others(18): Show TTCCCTTCCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	208	0.0048	25	c.210 others(44): Show c.210+19012_210+19013insCCCTTCCCTTCCTTCCTTCCTTCCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782115	T T	TTCCTTCC others(18): Show TTCCTTCCTCCTTCCTTCCTTCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0082 a0001c0024t0002g0082	1	208	0.0048	25	c.210 others(44): Show c.210+19064_210+19065insCCTTCCTCCTTCCTTCCTTCTTCCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH8_chr16_61642250_62041438	61768411	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0089 a0001c0001t0071g0089	1	168	0.0060	25	c.141 others(46): Show c.1414+20934_1414+20935insGAGAGAGAGAGAGAGAGAGAGAGA G	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	8/11			chr16	TogoVar
CDH9_chr5_26875597_27043586	26951945	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02809.hp1 HG00140.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0090 a0001c0001t0001g0043 a0001c0001t0001g0090	2	240	0.0083	25	c.229 others(44): Show c.229-36046_229-36022dupATAAAATAAAATAAAATAAAATAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03471.hp1 HG03516.hp2 others(2): Show HG01361.hp2 HG03471.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 others(2): Show a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0225 a0002c0002t0004g0227	5	240	0.0208	25	c.228 others(44): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDHR3_chr7_105958264_106041432	106034032	T T	TGAAACAC others(18): Show TGAAACACCATCAGCCTTACAACCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0031 a0010c0024t0031	a0010c0024t0031g0151 a0010c0024t0031g0151	1	358	0.0028	25	c.13 others(36): Show c.1336_*1360dupGAAACACCATCAGCCTTACAACCTA	CDHR3	ENSG00000128536.16	transcript	ENST00000317716.14	protein_coding	19/19	1361	INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK11A_chr1_1697379_1729357	1719638	C C	CGGAGTCT others(18): Show CGGAGTCTCGCTCTGTCACCCAGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp2 HG02630.hp2 others(3): Show HG01099.hp2 HG02257.hp2 HG02630.hp2 HG02895.hp2 NA19043.hp1 NA19240.hp2	a0005 a0023 a0005 a0023	a0005c0005 a0023c0019 a0005c0005 a0023c0019	a0005c0005t0001 a0023c0019t0001 a0005c0005t0001 a0023c0019t0001	a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 others(1): Show a0005c0005t0001g0020 a0005c0005t0001g0146 a0005c0005t0001g0147 a0023c0019t0001g0148	6	372	0.0161	25	c.228 others(40): Show c.228-208_228-184dupAGCCTGGGTGACAGAGCGAGACTCC	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	3/19			chr1	TogoVar
CDK11B_chr1_1630225_1664004	1647148	T T	TCTTGTTT others(18): Show TCTTGTTTTTTTCTCTCTGTTCTTCA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	446	0.0022	25	c.495 others(42): Show c.495-1911_495-1887dupTGAAGAACAGAGAGAAAAAAACAAG	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	5/19			chr1	TogoVar
CDK11B_chr1_1630225_1664004	1650268	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18959.hp2 NA18975.hp2 others(1): Show HG02735.hp2 NA18959.hp2 NA18975.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0003t0002 a0001c0009t0006 a0001c0001t0002 a0001c0003t0002 a0001c0009t0006	a0001c0001t0002g0267 a0001c0003t0002g0256 a0001c0009t0006g0397 others(1): Show a0001c0001t0002g0267 a0001c0003t0002g0256 a0001c0009t0006g0397 a0001c0009t0006g0398	4	446	0.0090	25	c.356 others(40): Show c.356-632_356-631insTTTTTTTTTTTTTTTTTTTTTTTTT	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	4/19			chr1	TogoVar
CDK12_chr17_39456486_39539544	39476711	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02895.hp1 HG03041.hp1 others(1): Show HG01943.hp1 HG02895.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0003g0069 a0001c0001t0004g0116 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0069 a0001c0001t0004g0116 a0001c0001t0005g0015	4	260	0.0154	25	c.193 others(44): Show c.1931+4953_1931+4977dupTTTTTTTTTTTTTTTTTTTTTTTTT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK13_chr7_39945256_40104580	39957302	T T	TTTTTTAT others(18): Show TTTTTTATCTAGATGATAAAAGTTAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00733.hp1 others(40): Show HG00140.hp1 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp2 HG02293.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0032	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 others(40): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0018 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0015 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0025 a0001c0001t0008g0028 a0001c0001t0016g0036 a0001c0001t0020g0017 a0001c0001t0025g0042 a0001c0001t0032g0026	43	322	0.1335	25	c.121 others(44): Show c.1211+5455_1211+5456insATCTAGATGATAAAAGTTAGTTTTT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	40003010	T T	TAGAGGCT others(18): Show TAGAGGCTTCAGTGAGCTGTGATTGC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp2 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0076 a0001c0001t0001g0101	2	322	0.0062	25	c.235 others(43): Show c.2353+981_2353+1005dupGAGGCTTCAGTGAGCTGTGATTGCA	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90773843	C C	CCTCCTCT others(18): Show CCTCCTCTCCTCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0079 a0001c0001t0027g0079	1	168	0.0060	25	c.465 others(44): Show c.465-16702_465-16678dupCCTCTCCTCTCCTCTCCTCTCCTCT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90775625	C C	CCCCCTCC others(18): Show CCCCCTCCCCCCTTCCCCTCCCCCTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	168	0.0060	25	c.465 others(44): Show c.465-14938_465-14937insCTTCCCCTCCCCCTTCCCCTCCCCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90775630	T T	TCCCCCTT others(18): Show TCCCCCTTCCCCTCCCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02602.hp2 HG01074.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0043 a0001c0001t0022g0069 a0001c0001t0011g0043 a0001c0001t0022g0069	2	168	0.0119	25	c.465 others(44): Show c.465-14938_465-14914dupCTTCCCCTCCCCCTTCCCCTCCCCC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90775642	T T	TCCCCCTT others(18): Show TCCCCCTTCCCCTCCCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	168	0.0060	25	c.465 others(44): Show c.465-14912_465-14911insCCCCTCCCCCCTTCCCCTCCCCCTT	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90895374	C C	CCCTCCCC others(18): Show CCCTCCCCTCCCCTCCCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02145.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0089 a0001c0001t0006g0107 a0001c0001t0005g0089 a0001c0001t0006g0107	2	168	0.0119	25	c.640 others(42): Show c.640-3913_640-3912insCCCTCCCCTCCCCTCTCCTCTCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90895374	C C	CCCTCCCC others(18): Show CCCTCCCCTCCCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04204.hp2 NA19068.hp1 HG00621.hp1 HG04204.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0038 a0001c0001t0003 a0001c0001t0011 a0001c0001t0038	a0001c0001t0003g0088 a0001c0001t0011g0068 a0001c0001t0038g0058 a0001c0001t0003g0088 a0001c0001t0011g0068 a0001c0001t0038g0058	3	168	0.0179	25	c.640 others(42): Show c.640-3913_640-3912insCCCTCCCCTCTCCTCTCCTCTCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90981803	G G	GAAACAAA others(18): Show GAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00738.hp2 others(12): Show HG00621.hp1 HG00642.hp1 HG00738.hp2 HG02145.hp1 HG02155.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02976.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp2 HG04204.hp2 NA18979.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0001c0001t0033 a0001c0001t0038	a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0003g0088 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0003g0088 a0001c0001t0003g0109 a0001c0001t0005g0039 a0001c0001t0005g0055 a0001c0001t0005g0089 a0001c0001t0006g0013 a0001c0001t0007g0129 a0001c0001t0009g0056 a0001c0001t0011g0068 a0001c0001t0022g0069 a0001c0001t0027g0079 a0001c0001t0033g0008 a0001c0001t0038g0058	15	168	0.0893	25	c.948 others(42): Show c.948-2339_948-2315dupAAACAAAACAAAACAAAACAAAACA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91027850	T T	TCTCCTCT others(18): Show TCTCCTCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0067	1	168	0.0060	25	c.104 others(46): Show c.1042-18043_1042-18042insTCTCCCCTCCCCTCCCCTCCCCTC C	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91211567	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	168	0.0060	25	c.44 others(36): Show c.4431_*4432insAAAAAAAAAAAAAAAAAAAAAAAAA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding		978		chr7	TogoVar
CDK17_chr12_96273261_96405439	96368806	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	346	0.0029	25	c.-30 others(44): Show c.-30+31179_-30+31180insCCCCCCCCCCCCCCCCCCCCCCCCC	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	1/16			chr12	TogoVar
CDK19_chr6_110604978_110820469	110759424	A A	ATATAAAT others(18): Show ATATAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03139.hp2 HG02615.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0128 a0001c0001t0011g0127 a0001c0001t0004g0128 a0001c0001t0011g0127	2	300	0.0067	25	c.129 others(44): Show c.129-13224_129-13223insATATATATATATATATATATTTATA	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CDK2AP1_chr12_123255976_123276856	123274793	G G	GAAAGAAA others(18): Show GAAAGAAAGAAACAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	328	0.0031	25	c.-31 others(36): Show c.-3176_-3175insTCTTTCTTTCTTTGTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		2938		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123274888	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	328	0.0031	25	c.-32 others(36): Show c.-3271_-3270insTTTTTCTTTCTTTCTTTCTTTCTTT	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3033		chr12	TogoVar
CDK5R2_chr2_218954666_218967155	218966479	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	388	0.0026	25	c.55 others(36): Show c.5555_*5556insAAAAAAAAAAAAAATATATATGTAT	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4325		chr2	TogoVar
CDK5RAP2_chr9_120383875_120585167	120413830	A A	AGGAGGGA others(18): Show AGGAGGGAGGAGGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0001 a0005c0031t0001	a0005c0031t0001g0223 a0005c0031t0001g0223	1	232	0.0043	25	c.429 others(44): Show c.4297+1209_4297+1210insCTCCTCCCTCCTCCCTCCTCCCTCC	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	28/37			chr9	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	124	0.0081	25	c.234 others(42): Show c.234-4116_234-4115insTATATATATATATATATATATATAT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20748775	G G	GGAAAACT others(18): Show GGAAAACTGGAGAGCCACATGCAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01255.hp2 others(14): Show HG00140.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02965.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0004c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 others(12): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 a0001c0002t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0037 a0001c0005t0014 a0001c0005t0016 a0001c0005t0050 a0001c0006t0006 a0001c0006t0039 a0001c0011t0004 a0001c0012t0022 a0004c0016t0001	a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 others(14): Show a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0018g0005 a0001c0002t0003g0150 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0004t0004g0133 a0001c0004t0037g0098 a0001c0005t0014g0093 a0001c0005t0016g0086 a0001c0005t0050g0088 a0001c0006t0006g0092 a0001c0006t0039g0091 a0001c0011t0004g0100 a0001c0012t0022g0135 a0004c0016t0001g0185	17	196	0.0867	25	c.468 others(42): Show c.468+9163_468+9164insAACTGGAGAGCCACATGCAAAAGAA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18948.hp2 NA19091.hp2 HG01891.hp2 NA18948.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0007 a0001c0004 a0002c0003 a0002c0007	a0001c0004t0007 a0002c0003t0005 a0002c0007t0005 a0001c0004t0007 a0002c0003t0005 a0002c0007t0005	a0001c0004t0007g0022 a0002c0003t0005g0036 a0002c0007t0005g0062 a0001c0004t0007g0022 a0002c0003t0005g0036 a0002c0007t0005g0062	3	196	0.0153	25	c.638 others(44): Show c.638+16539_638+16563dupATTTTATTTTATTTTATTTTATTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20799040	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0074 a0001c0002t0003g0074	1	196	0.0051	25	c.638 others(44): Show c.638+17780_638+17804dupTTTTTTTTTTTTTTTTTTTTTTTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21080009	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	196	0.0051	25	c.123 others(46): Show c.1236+14781_1236+14782insGTGTGTGTGTGTGTGTGTGTGTGT G	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	12/15			chr6	TogoVar
CDKN1A_chr6_36673714_36692332	36681334	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	454	0.0022	25	c.-6+ others(40): Show c.-6+2537_-6+2538insCTTTCTTTCTTTCTTTCTTCTTTCT	CDKN1A	ENSG00000124762.14	transcript	ENST00000244741.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02647.hp2 others(4): Show HG01884.hp2 HG02630.hp2 HG02647.hp2 HG02970.hp1 HG03139.hp1 NA18906.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0002g0101	7	416	0.0168	25	c.151 others(40): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar

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