Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
C7orf50_chr7_992006_1143247	1116532	A A	AGGACCGG others(95): Show AGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAAGCTCTAGGA CCGGCTTCCATCACCGACGCCCACGCAGGATGATGACAGCACTACAGCTC TAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp1 others(4): Show HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02896.hp1 HG02897.hp1 NA18906.hp2 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 others(1): Show a0001c0001t0007 a0001c0001t0014 a0001c0001t0025 a0008c0007t0008	a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0160 others(4): Show a0001c0001t0007g0157 a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0162 a0001c0001t0014g0156 a0001c0001t0025g0163 a0008c0007t0008g0161	7	151	0.0464	102	c.129 others(121): Show c.129+10724_129+10725insGTAGAGCTGTAGTGCTGTCATCATCC TGCGTGGGCGTCGGTGATGGAAGCCGGTCCTAGAGCTTCATCATCCTGCG TGGGCGTCGGTGATGGAAGCCGGTCC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CABLES2_chr20_62383634_62412285	62397927	T T	TGGTGGTG others(95): Show TGGTGGTGGTGATGGCGGTGGTGGTGATGGTGGTGACGGTAGTGGTGGTG ATGGTGGTGACAGTGGTGATGGCGGTGGTGGTGATGGCGGTGGTGGTGAT GGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0142 a0001c0001t0019g0142	1	197	0.0051	102	c.363 others(119): Show c.363-1336_363-1335insGCCATCACCACCACCGCCATCACCACCA CCGCCATCACCACTGTCACCACCATCACCACCACTACCGTCACCACCATC ACCACCACCGCCATCACCACCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(95): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGC GGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGG CGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	334	0.0030	102	c.121 others(117): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG GGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGC GGGGGGGCGGCGGGGGCGGGGG		CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2520779	T T	TAGGAGGG others(95): Show TAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02922.hp2 others(2): Show HG01106.hp2 HG02257.hp2 HG02922.hp2 HG03041.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0033 a0002c0013	a0001c0001t0045 a0001c0004t0004 a0001c0007t0006 others(2): Show a0001c0001t0045 a0001c0004t0004 a0001c0007t0006 a0001c0033t0020 a0002c0013t0035	a0001c0001t0045g0052 a0001c0004t0004g0086 a0001c0007t0006g0055 others(2): Show a0001c0001t0045g0052 a0001c0004t0004g0086 a0001c0007t0006g0055 a0001c0033t0020g0075 a0002c0013t0035g0019	5	74	0.0676	102	c.139 others(121): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2520810	C C	CCCAATGG others(95): Show CCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATT GCCCAATGGCCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCAT TGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02523.hp2 HG02809.hp2 others(4): Show HG02451.hp1 HG02523.hp2 HG02809.hp2 HG02965.hp1 HG03490.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0026 a0001c0037	a0001c0001t0001 a0001c0003t0044 a0001c0005t0002 others(4): Show a0001c0001t0001 a0001c0003t0044 a0001c0005t0002 a0001c0005t0010 a0001c0005t0026 a0001c0026t0003 a0001c0037t0006	a0001c0001t0001g0034 a0001c0003t0044g0053 a0001c0005t0002g0098 others(4): Show a0001c0001t0001g0034 a0001c0003t0044g0053 a0001c0005t0002g0098 a0001c0005t0010g0089 a0001c0005t0026g0078 a0001c0026t0003g0071 a0001c0037t0006g0027	7	82	0.0854	102	c.139 others(121): Show c.1390+7876_1390+7877insCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(95): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCG TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0259 a0001c0001t0005g0259	1	103	0.0097	102	c.300 others(119): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(95): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0012 a0012	a0012c0062 a0012c0062	a0012c0062t0001 a0012c0062t0001	a0012c0062t0001g0108 a0012c0062t0001g0108	1	103	0.0097	102	c.300 others(119): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185820	C C	CATAGGGC others(95): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCA TGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0109 a0002c0109	a0002c0109t0001 a0002c0109t0001	a0002c0109t0001g0117 a0002c0109t0001g0117	1	293	0.0034	102	c.300 others(119): Show c.300-9152_300-9151insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGT		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34						chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596304	C C	CGGAGGGA others(95): Show CGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAGGGCGGAGG GAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAG GGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0195 a0001c0002t0045g0195	1	194	0.0052	102	c.237 others(119): Show c.237-1832_237-1831insAGCAGGACGGAGGGAGATGGGGGCAGGG CGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGG GAGCAGGGTGGAGGGAGATGGGGG		CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(95): Show GTGTATATATATATATATTGCTATATATATATATATATATATAGCTATAT ATATATATATATATATATATATATATATATTGCTATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0090 a0001c0009t0001g0013 a0001c0001t0001g0090 a0001c0009t0001g0013	2	38	0.0526	102	c.382 others(121): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATAGCTATATATATATATATATATATATATATATATAT ATTGCTATATATATATATATATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18499637	A A	AAGAAGAA others(95): Show AAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	109	0.0092	102	c.456 others(119): Show c.456+1161_456+1162insGAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTA		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18499637	A A	AAGAAGAA others(95): Show AAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACTAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAGC ACT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA20905.hp1 NA18981.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0300 a0001c0002t0002g0046 a0001c0001t0001g0300 a0001c0002t0002g0046	2	178	0.0112	102	c.294 others(119): Show c.294+1161_294+1162insGAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTAAGAACCTAGAAGCCTGGGTACTATGG CTCATGCCTGTAATCCAAGCACTA		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CADM2_chr3_84953989_86079429	85212844	T T	TTCTTTCT others(95): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0146 a0001c0001t0010g0146	1	135	0.0074	102	c.61+ others(121): Show c.61+253215_61+253216insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48858014	G G	GAATAGAG others(95): Show GAATAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTA GAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAATAGAATAGAATA GAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	326	0.0031	102	c.100 others(121): Show c.1008+1833_1008+1834insGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG TAGAATAGAATAGAATAGAAAATAGA		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(95): Show CACACACATATATGTATGTGTATACACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATATACACACACATATACACACACG TGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0169 a0002c0002t0004g0169	1	11	0.0909	102	c.218 others(117): Show c.218+721_218+722insACACACATATATGTATGTGTATACACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATATAC ACACACATATACACACACGTGT		CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14						chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(95): Show CACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATATACACACACATATACACACACG TGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01168.hp2 others(1): Show HG00741.hp1 HG01074.hp1 HG01168.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0221 a0002c0002t0007g0059 a0002c0002t0007g0074 others(1): Show a0002c0002t0003g0221 a0002c0002t0007g0059 a0002c0002t0007g0074 a0002c0002t0007g0094	4	14	0.2857	102	c.218 others(117): Show c.218+721_218+722insACACACATATATGTGTGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATATAC ACACACATATACACACACGTGT		CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14						chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12825144	G G	GTTGCAGT others(95): Show GTTGCAGTTTCTTCCATTAAAATTGCCATGAGATTTGAAAATAGTTTTTA TTTTCCTAGTATTGGTACTTTTGTCTGAAAGATTTAGGTTGGGGCAAAAG TAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0037 a0001c0001t0098g0037	1	182	0.0055	102	c.922 others(117): Show c.922-426_922-425insCAGTTTCTTCCATTAAAATTGCCATGAGAT TTGAAAATAGTTTTTATTTTCCTAGTATTGGTACTTTTGTCTGAAAGATT TAGGTTGGGGCAAAAGTAATTG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12825144	G G	GTTGCGGT others(95): Show GTTGCGGTTTCTTCCATTAAAATTGCCATGAGATTTGAAAATAGTTTTTA TTTTCCTAGTATTGGTACTTTTGTCTGAAAGATTTAGATTGGGGCAAAAG TAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00621.hp2 others(29): Show HG00099.hp1 HG00323.hp2 HG00621.hp2 HG01884.hp2 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG04204.hp1 NA18522.hp2 NA18959.hp2 NA18974.hp2 NA18978.hp2 NA18989.hp1 NA18999.hp1 NA18999.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 others(16): Show a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0016 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0054 a0001c0002t0060 a0001c0002t0061 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0067 a0001c0002t0068 a0001c0002t0073 a0001c0002t0107	a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0170 others(29): Show a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0004g0170 a0001c0002t0004g0208 a0001c0002t0008g0108 a0001c0002t0008g0113 a0001c0002t0008g0153 a0001c0002t0008g0205 a0001c0002t0015g0050 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0016g0005 a0001c0002t0016g0166 a0001c0002t0016g0180 a0001c0002t0021g0023 a0001c0002t0021g0048 a0001c0002t0025g0029 a0001c0002t0025g0146 a0001c0002t0026g0165 a0001c0002t0027g0036 a0001c0002t0027g0116 a0001c0002t0032g0008 a0001c0002t0054g0019 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0063g0201 a0001c0002t0065g0140 a0001c0002t0066g0097 a0001c0002t0067g0053 a0001c0002t0068g0021 a0001c0002t0073g0058 a0001c0002t0107g0117	32	213	0.1502	102	c.922 others(117): Show c.922-426_922-425insCGGTTTCTTCCATTAAAATTGCCATGAGAT TTGAAAATAGTTTTTATTTTCCTAGTATTGGTACTTTTGTCTGAAAGATT TAGATTGGGGCAAAAGTAATTG		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(95): Show ATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGT GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18972.hp1 NA18940.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0346 a0001c0001t0001g0004 a0001c0001t0001g0346	2	235	0.0085	102	c.645 others(119): Show c.645+1167_645+1168insGTGTGTACACACACACGCGTGTGTATGT GTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTAT GTGTGTACACACACACGCGTGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(95): Show ATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGT GTATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGT GTG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0259 a0001c0001t0021g0259	1	234	0.0043	102	c.645 others(119): Show c.645+1167_645+1168insGTGTGTACACACACGCGCGTGTGTATGT GTGTACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGTGTAT GTGTGTACACACACGCGCGTGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(95): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACG CGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACA CGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18945.hp1 HG02273.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0338 a0001c0001t0007g0198 a0001c0001t0007g0338	2	314	0.0064	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTGTATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816963	T T	TGTGTATG others(95): Show TGTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACGCG CGTGTGTATGTGTGTACACACACGCGCGTGTGTATGTGTGTACACACACG CGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0343 a0001c0001t0007g0343	1	313	0.0032	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACGCGCGTGTGTATGTGTGTACACACACGCGCGTGTGTATGTGT GTACACACACGCGCGTGTATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGC others(95): Show GTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGCGT GTGTATGTGCGTACACACACACGCGTGTGTATGTGCGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	267	0.0037	102	c.645 others(119): Show c.645+1328_645+1329insCGTACACACACACGCGTGTGTATGTGCG TACACACACACGCGTGTGTATGTGCGTACACACACACGCGTGTGTATGTG CGTACACACACACGCGTATATGTG		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTATGTGT others(95): Show GTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGCGT GTGTATGTGTGTACACACACACGCGTGTGTATGTGTGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03486.hp1 HG04115.hp1 others(2): Show HG02809.hp2 HG03486.hp1 HG04115.hp1 NA18941.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0001 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0243 a0001c0001t0001g0270 a0001c0001t0001g0333 others(2): Show a0001c0001t0001g0243 a0001c0001t0001g0270 a0001c0001t0001g0333 a0001c0001t0006g0212 a0001c0001t0009g0220	5	271	0.0185	102	c.645 others(119): Show c.645+1329_645+1330insGTACACACACACGCGTGTGTATGTGTGT ACACACACACGCGTGTGTATGTGTGTACACACACACGCGTGTGTATGTGT GTACACACACACGCGTATATGTGT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816966	G G	GTGTGTGT others(95): Show GTGTGTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGCGT GTGTGTGTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGC GTA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	267	0.0037	102	c.645 others(119): Show c.645+1323_645+1324insGTGTGTGTACACACACACGCGTGTGTGT GTGTGTACACACACACGCGTGTGTGTGTGTGTACACACACACGCGTGTGT GTGTGTGTACACACACACGCGTAT		CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79005131	G G	GGGAGCTA others(95): Show GGGAGCTAGGGAGAGGGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGGGGA GTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGGGAGTTAGGG AGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0198 a0001c0002t0009g0198	1	392	0.0026	102	c.-14 others(121): Show c.-147+4532_-147+4533insTCTCCCTAACTCCCCCCTCCCTAAAT CCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCCCCT CCCTAACCCCCCCTCTCCCTAGCTCC		CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4						chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(95): Show CCACACTCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	265	0.0038	102	c.193 others(119): Show c.1938+509_1938+510insTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(95): Show AAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	253	0.0040	102	c.305 others(119): Show c.305-2094_305-1993dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCT		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55384591	A A	ATATATAC others(95): Show ATATATACGTATATATGCGTATATATACGCATATATACGTATATATGCGT ATATATACGCATATATATATACGCATATATACGTATATATGCGTATATAT ACG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0099 a0001c0001t0011g0099	1	298	0.0034	102	c.273 others(119): Show c.273+4186_273+4187insCGTATATATACGCATATATACGTATATA TGCGTATATATATATGCGTATATATACGCATATATACGTATATATGCGTA TATATACGCATATATACGTATATA		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32						chr2	TogoVar
CDAN1_chr15_42718544_42742128	42739770	C C	CTCCCTAT others(95): Show CTCCCTATAAGTCAAATTCAAGTTCTTATCTGGTTTGAAGAGGTGCGCCC TCATGGACTAATTTCTTAACAAGTCAAAATTATATATTATTCCTAATAAA AAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	102	c.-26 others(113): Show c.-2669_-2668insTTTTTTATTAGGAATAATATATAATTTTGACTTG TTAAGAAATTAGTCCATGAGGGCGCACCTCTTCAAACCAGATAAGAACTT GAATTTGACTTATAGGGA		CDAN1	ENSG00000140326.13	transcript	ENST00000356231.4	protein_coding					2643		chr15	TogoVar
CDC42BPB_chr14_102927380_103062549	102985245	G G	GTGGAGGT others(95): Show GTGGAGGTGAGGAGGGTAACCCATGTTCTGGTTATACCATGACGGGGTGG TATGGAGGTGAGGAGGGTAACCCATGTTCTGGTTATACCATGACGGGGTG GTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp1 HG02630.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0060 a0001c0003t0006g0191 a0001c0003t0006g0060 a0001c0003t0006g0191	2	302	0.0066	102	c.690 others(119): Show c.690+1241_690+1242insTACCACCCCGTCATGGTATAACCAGAAC ATGGGTTACCCTCCTCACCTCCATACCACCCCGTCATGGTATAACCAGAA CATGGGTTACCCTCCTCACCTCCA		CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	6/36						chr14	TogoVar
CDC73_chr1_193117031_193259815	193162154	C C	CTATTATA others(95): Show CTATTATATTGTATATAATATATATTATATATTATCTATTATATTGTATA TAATATATATTATATATTATCTATTATATTGTATATAATATATATTATAT ATT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	241	0.0041	102	c.972 others(119): Show c.972+9803_972+9804insTTATATATTTATTATATTGTATATAATA TATATTATATATTATCTATTATATTGTATATAATATATATTATATATTAT CTATTATATTGTATATAATATATA		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH15_chr16_89166748_89200492	89189047	G G	GTGCCCAC others(95): Show GTGCCCACACACAGATGCCGGCACACACAGATGCCCACACACAGATGCCC ACACACAGATGCCCACGCACAGGTGCCCACACAAAGATGCCGGCACACAC AGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	404	0.0025	102	c.978 others(117): Show c.978+781_978+882dupGGCACACACAGATGCCCACACACAGATGCC CACACACAGATGCCCACGCACAGGTGCCCACACAAAGATGCCGGCACACA CAGATGCCCACACACAGATGCC		CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CELF2_chr10_11012872_11341675	11284292	T T	TGTGGTGG others(95): Show TGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAG TGTGTGGTGAGGGATGAGGGATGGGTGTGTGGTGGGTGGATGAGGGATGA GTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	114	0.0088	102	c.842 others(119): Show c.842-4126_842-4125insGTGGTGGGTGGATGAGGGATGAGTGCGT GGTGGGTGGATGAGGGATGAGTGTGTGGTGAGGGATGAGGGATGGGTGTG TGGTGGGTGGATGAGGGATGAGTG		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12						chr10	TogoVar
CELF4_chr18_37238040_37570798	37491204	G G	GGACGCCG others(95): Show GGACGCCGTGCCCACCTCCTCTCCTCACCCGAGAGGACGCCGTGCCCACC TCCTCTCCTCACCTGAGAGGGACGCCGTGCCCACCTCCTCTCCTCACCCG AGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0057 a0001c0001t0020g0057	1	181	0.0055	102	c.287 others(119): Show c.287-5598_287-5597insTCTCGGGTGAGGAGAGGAGGTGGGCACG GCGTCCCTCTCAGGTGAGGAGAGGAGGTGGGCACGGCGTCCTCTCGGGTG AGGAGAGGAGGTGGGCACGGCGTC		CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12						chr18	TogoVar
CELSR1_chr22_46356174_46542620	46502382	A A	AGGGAAGG others(95): Show AGGGAAGGGTAAAGTGGAAAGAAGAGGGAAGGGGAAAGGGGAGGGAAGGG GTGGGAAGGGTAAAGTGGAAAGAAGAGGGAAGGGGAAAGGGGAGGGAAGG GGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp2 HG02145.hp1 HG02818.hp2	a0017 a0025 a0017 a0025	a0017c0045 a0025c0020 a0017c0045 a0025c0020	a0017c0045t0001 a0025c0020t0002 a0017c0045t0001 a0025c0020t0002	a0017c0045t0001g0030 a0025c0020t0002g0020 a0017c0045t0001g0030 a0025c0020t0002g0020	2	74	0.0270	102	c.354 others(123): Show c.3544+31244_3544+31245insACCCCTTCCCTCCCCTTTCCCCTT CCCTCTTCTTTCCACTTTACCCTTCCCACCCCTTCCCTCCCCTTTCCCCT TCCCTCTTCTTTCCACTTTACCCTTCCC		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GCCCCCCC others(95): Show GCCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCCGTGCC GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCG GGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	229	0.0044	102	c.204 others(111): Show c.2040_2041insCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCCG TGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC GCCGGGCCCCCCCCCC	p.Pro others(115): Show p.Pro680_Val681insArgAlaAlaHisGlyTerLeuArgGlyProPr oProCysArgProArgValThrProAlaProProProCysArgProArgV alThrProGlyProProPro	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071567	G G	GCCCCCCC others(95): Show GCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGC CCACGGGTGACGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGACTCCGG CGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	322	0.0031	102	c.207 others(111): Show c.2073_2074insCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGT GCCGCCCACGGGTGACGCCGGGCCCCCCCCCCGTGCCGCCCACGGGTGAC TCCGGCGCCCCCCCCC	p.Pro others(115): Show p.Pro691_Val692insArgAlaAlaHisGlyTerLeuArgArgProPr oArgAlaAlaHisGlyTerArgArgAlaProProProCysArgProArgV alThrProAlaProProPro	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2096/2381	2074/2262	692/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728231	C C	CTCTCTCT others(95): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATAT ACGTATATATATATATACGTATATATATATACACGTATATATATATATAC ACG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0037 a0007c0018t0037	a0007c0018t0037g0280 a0007c0018t0037g0280	1	93	0.0108	102	c.204 others(121): Show c.2049+1613_2049+1614insCGTGTATATATATATATACGTGTATA TATATATACGTATATATATATATACGTATATATATATATATATATATATA TATATATATATAGAGAGAGAGAGAGA		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23						chr9	TogoVar
CENPJ_chr13_24877279_24927861	24881850	A A	ATCTATAT others(95): Show ATCTATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACCTCTATATAGATATATAGAT ACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0037 a0002c0003t0003g0037	1	436	0.0023	102	c.13 others(113): Show c.1326_*1327insGGTATCTATATATCTATATAGAGGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATAGA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					428		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882089	T T	TATAGATA others(95): Show TATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGATA CATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTATA TAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	190	0.0053	102	c.10 others(113): Show c.1087_*1088insCTATATAGATGTATCTATATAGATGTATCTATAT AGATGTATCTATATAGATGTATCTATATAGATGTATCTATATAGATGTAT CTATATAGATGTATCTAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					189		chr13	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAG others(95): Show AAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATACG GGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTAT AAT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0072 a0003c0003t0003g0072	1	8	0.1250	102	c.478 others(119): Show c.478-1174_478-1173insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATACGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAAAA		CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAG others(95): Show AAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATATGTATATG GGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAATTTACTAT AAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 NA18906.hp1 others(4): Show HG02145.hp2 HG02809.hp2 NA18906.hp1 NA18987.hp2 NA19012.hp1 NA19081.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003	a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 others(3): Show a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0224 a0003c0003t0002g0052 a0003c0003t0003g0021	7	14	0.5000	102	c.478 others(119): Show c.478-1174_478-1173insGATGGTCCTGAGTTGATAATTGAAACTG GCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTG TTTGAAATTTACTATAATAAAAAA		CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP170B_chr14_104860268_104901747	104884792	C C	CCGGGGGT others(95): Show CCGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0002 a0002c0012t0002g0002	2	292	0.0068	102	c.177 others(119): Show c.1770+243_1770+244insCGGGGGTGGAGGTGATGCCGGGGGTGGC GAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTG GCGAGTGAGAGCCCTCGTGGGGAA		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18						chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884845	G G	GGGGGGGT others(95): Show GGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGA ACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGG AAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0190 a0001c0003t0002g0190	1	324	0.0031	102	c.177 others(119): Show c.1770+308_1770+309insCGATGCCGGGGGTGGCGAGTGAGAGCCC TCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCC CTCGTGGGGAACGGGGGGTGGAGG		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP72_chr5_607340_658553	649690	G G	GACTGTGA others(95): Show GACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA20752.hp2 NA20905.hp1 HG02738.hp2 NA20752.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0084 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0084	3	81	0.0370	102	c.177 others(121): Show c.1778+1774_1778+1775insACTGTGAGGCATGGACTGTGAGGTGT GACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGT		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11						chr5	TogoVar
CFAP276_chr1_109100951_109117747	109113390	C C	CAGAGAGA others(95): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	393	0.0025	102	c.-71 others(111): Show c.-712_-711insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTGACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT		CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding					644		chr1	TogoVar
CFAP46_chr10_132803392_132947570	132851922	A A	AATTCTCA others(95): Show AATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTTAG GAATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTACTTA GAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0002 a0033c0074t0002	a0033c0074t0002g0006 a0033c0074t0002g0006	1	243	0.0041	102	c.557 others(119): Show c.5575-719_5575-618dupGTCTAAGTAAATGGAGGAACATACCAGG TCTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCAC GTCTGTGGATCAGGATCTGAGAAT		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57						chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371765	T T	TATATACG others(95): Show TATATACGTGTGCATATACACACATGTGTGTATATACGTGTGCATATACA CACATGTGTGTATATACGTGTGCATATACACACATGTGTGTATATACGTG TGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0023 a0023	a0023c0055 a0023c0055	a0023c0055t0001 a0023c0055t0001	a0023c0055t0001g0207 a0023c0055t0001g0207	1	187	0.0053	102	c.918 others(121): Show c.9185+4644_9185+4645insGTGTGCATATACACACATGTGTGTAT ATACGTGTGCATATACACACATGTGTGTATATACGTGTGCATATACACAC ATGTGTGTATATACGTGTGCATATAC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96827763	T T	TTATATTA others(95): Show TTATATTATATATAGTTATATATAATATATAATTATATATAATACATAGT AATATATTATATATAGTTATATATAATATATAATTATATATAATACATAG TAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0001 a0014c0046t0001	a0014c0046t0001g0062 a0014c0046t0001g0062	1	265	0.0038	102	c.909 others(121): Show c.9097-1189_9097-1088dupATAGTTATATATAATATATAATTATA TATAATACATAGTAATATATTATATATAGTTATATATAATATATAATTAT ATATAATACATAGTAATATATTATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results