Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CDH23_chr10_71391920_71820947	71427195	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0021 a0021	a0021c0148 a0021c0148	a0021c0148t0003 a0021c0148t0003	a0021c0148t0003g0188 a0021c0148t0003g0188	1	196	0.0051	48	c.-5- others(65): Show c.-5-12629_-5-12582dupAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH2_chr18_27945966_28182130	28043469	T T	TATATATA others(41): Show TATATATATATATATATATATAAATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0002 a0001c0002t0019g0002	1	268	0.0037	48	c.173 others(67): Show c.173-29561_173-29560insTTATATATATATATATATATATATAT TTATATATATATATATATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(41): Show CGTGTGTGATGTGTGTGCGTTTGCACGCGTGTGCTGTGGCGTGTGTGAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0083 a0001c0001t0051g0083	1	106	0.0094	48	c.169 others(67): Show c.169+28403_169+28404insATGTGTGTGCGTTTGCACGCGTGTGC TGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61424818	A A	ATCCAGTG others(41): Show ATCCAGTGTCCCCCTCTGTGCTGTGGGCATTTGCCCCGCCTGTTTCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01123.hp2 others(7): Show HG01081.hp2 HG01106.hp1 HG01123.hp2 HG02055.hp1 HG02148.hp1 HG02451.hp2 HG02630.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0001t0051 a0001c0003t0001 others(7): Show a0001c0001t0002 a0001c0001t0051 a0001c0003t0001 a0001c0003t0052 a0001c0006t0021 a0001c0007t0046 a0002c0002t0039 a0002c0002t0041 a0002c0004t0002 a0002c0005t0015	a0001c0001t0002g0078 a0001c0001t0051g0083 a0001c0003t0001g0020 others(7): Show a0001c0001t0002g0078 a0001c0001t0051g0083 a0001c0003t0001g0020 a0001c0003t0052g0064 a0001c0006t0021g0004 a0001c0007t0046g0066 a0002c0002t0039g0058 a0002c0002t0041g0087 a0002c0004t0002g0080 a0002c0005t0015g0069	10	106	0.0943	48	c.169 others(69): Show c.169+169888_169+169889insTCCCCCTCTGTGCTGTGGGCATTT GCCCCGCCTGTTTCCCTTCCAGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61647530	T T	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0086 a0001c0003t0054g0086	1	106	0.0094	48	c.170 others(67): Show c.170-96030_170-96029insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0081 a0001c0003t0043g0081	1	106	0.0094	48	c.170 others(67): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61911593	G G	GAAGCATA others(41): Show GAAGCATAAGGAAAAGCAAGATGAGCTTAAAGCTGGATAGGATATGCCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0073 a0002c0002t0016g0073	1	106	0.0094	48	c.137 others(65): Show c.1374+990_1374+991insATAAGGAAAAGCAAGATGAGCTTAAAGC TGGATAGGATATGCCAAAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61911593	G G	GAAGCGTA others(41): Show GAAGCGTAAGGAAAAGCAAGATGAGCTTAAAGCTGGATAGGATATGCCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(64): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0010 others(13): Show a0001c0001 a0001c0003 a0001c0010 a0001c0011 a0001c0022 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0014 a0002c0015 a0002c0016 a0002c0024 a0002c0026 a0004c0019 a0005c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0038 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0003t0001 a0001c0003t0032 a0001c0003t0037 a0001c0010t0001 a0001c0011t0008 a0001c0022t0042 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0039 a0002c0002t0041 a0002c0004t0003 a0002c0004t0033 a0002c0005t0002 a0002c0005t0007 a0002c0005t0015 a0002c0005t0020 a0002c0005t0024 a0002c0005t0030 a0002c0008t0001 a0002c0008t0004 a0002c0008t0025 a0002c0014t0003 a0002c0015t0007 a0002c0016t0004 a0002c0024t0047 a0002c0026t0015 a0004c0019t0001 a0005c0025t0011	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030 others(64): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0011g0005 a0001c0001t0011g0033 a0001c0001t0014g0106 a0001c0001t0017g0065 a0001c0001t0018g0039 a0001c0001t0031g0089 a0001c0001t0038g0092 a0001c0001t0040g0055 a0001c0001t0048g0085 a0001c0001t0050g0063 a0001c0003t0001g0038 a0001c0003t0032g0040 a0001c0003t0037g0023 a0001c0010t0001g0027 a0001c0011t0008g0003 a0001c0011t0008g0101 a0001c0022t0042g0072 a0002c0002t0004g0068 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0005g0014 a0002c0002t0005g0022 a0002c0002t0005g0096 a0002c0002t0012g0082 a0002c0002t0012g0104 a0002c0002t0013g0017 a0002c0002t0014g0062 a0002c0002t0016g0075 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0002t0039g0058 a0002c0002t0041g0087 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0003g0093 a0002c0004t0033g0095 a0002c0005t0002g0061 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0005t0020g0056 a0002c0005t0024g0048 a0002c0005t0030g0103 a0002c0008t0001g0028 a0002c0008t0004g0041 a0002c0008t0025g0024 a0002c0014t0003g0090 a0002c0015t0007g0025 a0002c0016t0004g0042 a0002c0024t0047g0051 a0002c0026t0015g0079 a0004c0019t0001g0015 a0005c0025t0011g0099	67	106	0.6321	48	c.137 others(66): Show c.1374+991_1374+1038dupGTAAGGAAAAGCAAGATGAGCTTAAAG CTGGATAGGATATGCCAAAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61911646	A A	ATAAGGAA others(41): Show ATAAGGAAAAGCAAGGTGAGCTTAAAGCTGGATAGGATATGCCGAAGCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02257.hp2 others(5): Show HG01081.hp1 HG01243.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp2 HG02895.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0014 a0001c0003 a0002c0004 a0002c0014	a0001c0003t0001 a0001c0003t0032 a0002c0004t0003 others(2): Show a0001c0003t0001 a0001c0003t0032 a0002c0004t0003 a0002c0004t0033 a0002c0014t0003	a0001c0003t0001g0038 a0001c0003t0032g0040 a0002c0004t0003g0010 others(5): Show a0001c0003t0001g0038 a0001c0003t0032g0040 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0003g0093 a0002c0004t0033g0095 a0002c0014t0003g0090	8	106	0.0755	48	c.137 others(67): Show c.1374+1053_1374+1054insGTGAGCTTAAAGCTGGATAGGATATG CCGAAGCGTAAGGAAAAGCAAG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61911694	A A	ATAAGGAA others(41): Show ATAAGGAAAAGCAAGGTGAGCTTAAAGCTGGATAGGATATGCCGAAGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0023 a0001c0003t0037g0023	1	106	0.0094	48	c.137 others(67): Show c.1374+1178_1374+1225dupGAAGCGTAAGGAAAAGCAAGGTGAGC TTAAAGCTGGATAGGATATGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61911742	G G	GTAAGGAA others(41): Show GTAAGGAAAAGCAAGGTGAGCTTAAAGCTGGATAGGATATGCCGAAGCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp1 HG02622.hp2 others(5): Show HG01255.hp2 HG02145.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 others(3): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0028 a0001c0001t0051 a0001c0007t0010 a0001c0007t0046	a0001c0001t0018g0031 a0001c0001t0019g0091 a0001c0001t0028g0016 others(5): Show a0001c0001t0018g0031 a0001c0001t0019g0091 a0001c0001t0028g0016 a0001c0001t0051g0083 a0001c0007t0010g0018 a0001c0007t0010g0037 a0001c0007t0010g0044 a0001c0007t0046g0066	8	106	0.0755	48	c.137 others(67): Show c.1374+1182_1374+1183insATAAGGAAAAGCAAGGTGAGCTTAAA GCTGGATAGGATATGCCGAAGC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65781760	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA20805.hp1 HG00642.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0034 a0001c0001t0002 a0001c0006t0034	a0001c0001t0002g0077 a0001c0006t0034g0075 a0001c0001t0002g0077 a0001c0006t0034g0075	2	208	0.0096	48	c.210 others(67): Show c.210+18718_210+18719insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTATCTTTCTTTC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782028	C C	CTCTCTCT others(41): Show CTCTCTCTCTTTTCTCTCTTTCTCTCTTCTTCCTTCCTTCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0019 a0002c0010t0019	a0002c0010t0019g0198 a0002c0010t0019g0198	1	208	0.0048	48	c.210 others(67): Show c.210+18976_210+18977insTCTCTCTCTTTTCTCTCTTTCTCTCT TCTTCCTTCCTTCTTCTTCCTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CDH7_chr18_65746012_65895337	65782063	T T	TTCCTTCC others(41): Show TTCCTTCCTTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0051 a0002c0015t0051	a0002c0015t0051g0081 a0002c0015t0051g0081	1	208	0.0048	48	c.210 others(67): Show c.210+19012_210+19013insCCTTCCTTTCCTTCCTTCCCTCCTTC CTTCCTTCCTTCCTTCCTTCCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65830721	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03942.hp2 HG01952.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0035 a0002c0002t0003g0042 a0002c0002t0003g0035 a0002c0002t0003g0042	2	208	0.0096	48	c.981 others(65): Show c.981+5893_981+5894insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0188	1	238	0.0042	48	c.544 others(65): Show c.544+5843_544+5844insATATATATATATATATATATATATATAT ATATATATATATATATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK13_chr7_39945256_40104580	40039434	A A	ATTTTTTT others(41): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0305 a0001c0003t0009g0305	1	322	0.0031	48	c.235 others(67): Show c.2354-6379_2354-6378insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK2AP1_chr12_123255976_123276856	123275157	A A	AGGTGCTG others(41): Show AGGTGCTGAGGGGCTGGGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	328	0.0031	48	c.-35 others(59): Show c.-3540_-3539insCCAGCCCCTCAGCACCTCAGCCCCTCAGCACCCC AGCCCCTCAGCACC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3302		chr12	TogoVar
CDK2AP1_chr12_123255976_123276856	123275184	G G	GGCTGGGG others(41): Show GGCTGGGGTGCTGAGGGGCTGAGGGGCTGAGGGGCTGAGGTGCTGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	48	c.-35 others(59): Show c.-3567_-3566insACCTCAGCACCTCAGCCCCTCAGCCCCTCAGCCC CTCAGCACCCCAGC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3329		chr12	TogoVar
CDKAL1_chr6_20529457_21237404	20992208	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG03486.hp2 others(1): Show HG02630.hp1 HG03195.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0004t0001	a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0001t0015g0186 others(1): Show a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0001t0015g0186 a0001c0004t0001g0127	4	196	0.0204	48	c.910 others(65): Show c.910-8016_910-8015insATATATATATATATATATATATATATAT ATATATATATATGTATGTAT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(41): Show GCACGCGCGCGCGCGCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0180 a0001c0001t0011g0180	1	192	0.0052	48	c.65- others(63): Show c.65-1620_65-1619insGCGCGCGCGCGCACACACACACACACACAC ACACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(41): Show GCACGCGCGCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0006 a0001c0001t0063g0006	1	192	0.0052	48	c.65- others(63): Show c.65-1620_65-1619insGCGCGCGCGCGCGCACACACACACACACAC ACACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDON_chr11_125951821_126067866	125974402	G G	GAGGGAGG others(41): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02056.hp2 HG02132.hp1 others(9): Show HG00735.hp2 HG02056.hp2 HG02132.hp1 HG02559.hp2 HG03098.hp2 HG03654.hp2 NA18954.hp1 NA18957.hp2 NA18969.hp1 NA18998.hp1 NA19086.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0001c0020 a0002c0003 others(2): Show a0001c0001 a0001c0020 a0002c0003 a0003c0017 a0012c0062	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0020t0005 a0002c0003t0078 a0003c0017t0046 a0012c0062t0097	a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0122 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0004g0171 a0001c0001t0011g0301 a0001c0020t0005g0241 a0002c0003t0078g0287 a0003c0017t0046g0034 a0012c0062t0097g0307	12	334	0.0359	48	c.335 others(67): Show c.3356+3901_3356+3902insTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(41): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG01243.hp1 HG02040.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0005 a0005c0010t0016 a0001c0001t0005 a0005c0010t0016	a0001c0001t0005g0237 a0005c0010t0016g0033 a0001c0001t0005g0237 a0005c0010t0016g0033	2	334	0.0060	48	c.-25 others(59): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDS1_chr4_84578127_84656334	84635625	G G	GCCTGCCT others(41): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18952.hp1 NA18959.hp1 others(1): Show HG02132.hp2 NA18952.hp1 NA18959.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146	4	384	0.0104	48	c.810 others(63): Show c.810+277_810+278insGCCTGCCTGCCTGCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CDYL_chr6_4771404_4960544	4894856	T T	TGTGTGTG others(41): Show TGTGTGTGTGTATGTGTATATACACACGTGTATGTGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03209.hp1 others(1): Show HG01891.hp1 HG02559.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0020 a0001c0002t0002g0001 a0001c0002t0002g0247 others(1): Show a0001c0001t0002g0020 a0001c0002t0002g0001 a0001c0002t0002g0247 a0001c0002t0006g0246	4	250	0.0160	48	c.691 others(65): Show c.691+2477_691+2478insGTGTGTGTGTATGTGTATATACACACGT GTATGTGTGTATATATACAC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CDYL_chr6_4771404_4960544	4895385	G G	GCGCATAT others(41): Show GCGCATATATGCATGTATGTATATATGCATATATGCATGTATGTATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19007.hp1 HG04184.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0201 a0001c0001t0001g0136 a0001c0001t0001g0201	2	250	0.0080	48	c.691 others(65): Show c.691+3006_691+3007insCGCATATATGCATGTATGTATATATGCA TATATGCATGTATGTATATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6			chr6	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	290	0.0035	48	c.124 others(67): Show c.1247-1437_1247-1436insTTATTTATATATATATATATATATAT ATATATATATATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(41): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	340	0.0029	48	c.72- others(61): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	194	0.0052	48	c.272 others(67): Show c.272-20365_272-20364insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11284011	T T	TGTGGTAG others(41): Show TGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0003t0004 a0001c0004t0047 a0001c0002t0002 a0001c0003t0004 a0001c0004t0047	a0001c0002t0002g0011 a0001c0003t0004g0024 a0001c0004t0047g0156 a0001c0002t0002g0011 a0001c0003t0004g0024 a0001c0004t0047g0156	3	194	0.0155	48	c.842 others(65): Show c.842-4402_842-4401insAGGTGGATGATGGATGAGTGTGTGGTGG GTGGATGAGGGATGAGTGGT	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3235654	A A	ATGGATGG others(41): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGTGTGGATGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02895.hp1 others(7): Show HG02486.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0004	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 others(7): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0002g0122 a0001c0002t0001g0034 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0006t0004g0137	10	262	0.0382	48	c.259 others(67): Show c.259+10682_259+10683insGATGGATGGATGTGTGGATGGGTGGA TGGATGGATGGATGGATGGATG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEMIP2_chr9_71678366_71773513	71728269	A A	ATATATAC others(41): Show ATATATACGTATATATATATATACGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18990.hp2 NA19003.hp2 NA18962.hp2 NA18990.hp2 NA19003.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0006c0006t0004 a0001c0001t0001 a0001c0001t0002 a0006c0006t0004	a0001c0001t0001g0196 a0001c0001t0002g0146 a0006c0006t0004g0147 a0001c0001t0001g0196 a0001c0001t0002g0146 a0006c0006t0004g0147	3	320	0.0094	48	c.204 others(67): Show c.2049+1575_2049+1576insCGTATATATATATATATATATATACG TATATATATATATACGTATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728285	A A	ATACACGT others(41): Show ATACACGTATATATATATATATATGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0262 a0001c0001t0012g0263 a0001c0001t0003g0262 a0001c0001t0012g0263	2	320	0.0063	48	c.204 others(67): Show c.2049+1559_2049+1560insCGTATATATATATATATATATATACA TATATATATATATATACGTGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728287	A A	ACACGTAT others(41): Show ACACGTATATATATATATATATGTATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	320	0.0031	48	c.204 others(67): Show c.2049+1557_2049+1558insCGTATATATATATATATATATATATA CATATATATATATATATACGTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728289	A A	ACGTATAT others(41): Show ACGTATATATATATATATATGTATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	320	0.0031	48	c.204 others(67): Show c.2049+1555_2049+1556insCGTATATATATATATATATATATATA TACATATATATATATATATACG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728291	A A	ATATATAT others(41): Show ATATATATATATATATATACGTATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0136 a0001c0001t0019g0215 a0001c0001t0019g0136 a0001c0001t0019g0215	2	320	0.0063	48	c.204 others(67): Show c.2049+1553_2049+1554insCGTATATATATATATATATATATATA TACGTATATATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728293	A A	ATATATAT others(41): Show ATATATATATATATACGTATATATATATATATATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0216	1	320	0.0031	48	c.204 others(67): Show c.2049+1551_2049+1552insCACGTATATATATATATATATATATA TATATACGTATATATATATATA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71756191	C C	CTAGATAG others(41): Show CTAGATAGATAGATGGATAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp2 HG03669.hp1 HG04204.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0231 a0005c0004t0001g0233 a0005c0004t0001g0231 a0005c0004t0001g0233	2	320	0.0063	48	c.-12 others(65): Show c.-12-5807_-12-5806insTCTATCTATCTATCTATCTATCTATCTA TCTATCCATCTATCTATCTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80836623	A A	ATTTTCTG others(41): Show ATTTTCTGCCTCCTTACCTCCTGGGTTTTCTGCCTCCTTACCTCCTGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	254	0.0039	48	c.-17 others(69): Show c.-175-36905_-175-36858dupTCCTTACCTCCTGGGTTTTCTGCC TCCTTACCTCCTGGGTTTTCTGCC	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPE_chr4_103100811_103203343	103132960	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0145 a0008c0009t0001g0145	1	320	0.0031	48	c.672 others(63): Show c.6721-65_6721-64insTATATATATATATATATATATATATATATA TATATATATATATATATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	41/48			chr4	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(41): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01099.hp2 others(9): Show HG00544.hp1 HG00609.hp2 HG01099.hp2 HG01515.hp1 HG01934.hp1 HG02027.hp2 HG02293.hp2 HG03831.hp2 NA18953.hp1 NA18955.hp1 NA18974.hp1 NA18988.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0017 a0002c0003t0003g0037 a0002c0003t0003g0104 others(7): Show a0002c0003t0003g0017 a0002c0003t0003g0037 a0002c0003t0003g0104 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0113 a0002c0003t0003g0115 a0002c0003t0003g0126 a0002c0003t0003g0131 a0002c0003t0003g0179	12	440	0.0273	48	c.11 others(59): Show c.1196_*1197insTATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882050	A A	ATACATCT others(41): Show ATACATCTATATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	440	0.0023	48	c.11 others(59): Show c.1126_*1127insGATGTATCTATATAGATGTATCTATATAGATGTA TCTATATAGATGTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		228		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882169	G G	GATATATA others(41): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	48	c.10 others(59): Show c.1007_*1008insATATCTATATAGATGTATCTATATATCTATATAG ATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		109		chr13	TogoVar
CENPP_chr9_92320953_92625529	92352505	G G	GTGTGTGT others(41): Show GTGTGTGTGTGTGTATACATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	260	0.0039	48	c.467 others(65): Show c.467+6719_467+6720insGTGTGTGTGTGTATACATATATATATAT ATATATATATATATATATAT	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP104_chr1_3807086_3862211	3832372	A A	AACCAGGA others(41): Show AACCAGGAGTGTAGCGTAGGTCGTGACCAGGAGTGTAGCGTAGGTCGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp2 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0013g0031 a0001c0001t0013g0032	2	382	0.0052	48	c.166 others(67): Show c.1660-1151_1660-1150insCACGACCTACGCTACACTCCTGGTCA CGACCTACGCTACACTCCTGGT	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	12/21			chr1	TogoVar
CEP128_chr14_80491479_80946738	80610104	A A	AACTTTCA others(41): Show AACTTTCATCTGAAATTTATTCTGCTGAAAGCAGCGCAGTATGAATCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	164	0.0061	48	c.280 others(69): Show c.2807-29729_2807-29682dupATGATTCATACTGCGCTGCTTTCA GCAGAATAAATTTCAGATGAAAGT	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP72_chr5_607340_658553	649690	G G	GACTGTGA others(41): Show GACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	91	0.0110	48	c.177 others(67): Show c.1778+1774_1778+1775insACTGTGAGGCATGGACTGTGAGGTGT GACTGAGGTGTGACTGAGGTGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(41): Show GGGGGGGGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	302	0.0033	48	c.232 others(67): Show c.232+32152_232+32153insACACACACACACACACACACACACCC CCCCCCCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(41): Show GGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	302	0.0033	48	c.232 others(67): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACCCCCCCCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar

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