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
CDH22_chr20_46168739_46313498	46181752	C C	CTTCCTTC others(28): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	318	0.0031	35	c.166 others(54): Show c.1664-3556_1664-3555insAGAAAGAAGAAAGAAAGAAAGAAAGA AAGAAGGAA	CDH22	ENSG00000149654.11	transcript	ENST00000537909.4	protein_coding	10/11			chr20	TogoVar
CDH2_chr18_27945966_28182130	28007165	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0071 a0004c0005t0012g0071	1	268	0.0037	35	c.703 others(52): Show c.703-1173_703-1172insATATATATATATATATATATATATATAT TTTTTTT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	5/15			chr18	TogoVar
CDH2_chr18_27945966_28182130	28103180	T T	TATATATA others(28): Show TATATATAAAAACTCCTTTATATAAATATAAAGTAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0196 a0001c0001t0017g0196	1	268	0.0037	35	c.172 others(54): Show c.172+44492_172+44493insGTACTTTATATTTATATAAAGGAGTT TTTATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH2_chr18_27945966_28182130	28103180	T T	TATATATA others(28): Show TATATATAAAAACTCCTTTATATATATATAAAGTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp1 others(89): Show HG00140.hp1 HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18980.hp2 NA18983.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19072.hp1 NA19079.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0028 a0001c0002t0033 a0001c0010t0005 a0002c0003t0001 a0002c0003t0003 a0002c0003t0010 a0002c0003t0011 a0003c0004t0007 a0003c0004t0039 a0004c0006t0012	a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 others(89): Show a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0003g0077 a0001c0001t0003g0109 a0001c0001t0003g0127 a0001c0001t0003g0187 a0001c0001t0004g0037 a0001c0001t0005g0129 a0001c0001t0005g0190 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0067 a0001c0001t0009g0261 a0001c0001t0010g0260 a0001c0001t0011g0052 a0001c0001t0011g0066 a0001c0001t0012g0053 a0001c0001t0012g0058 a0001c0001t0012g0068 a0001c0001t0013g0113 a0001c0001t0014g0262 a0001c0001t0023g0047 a0001c0001t0024g0044 a0001c0001t0024g0045 a0001c0001t0025g0051 a0001c0001t0025g0063 a0001c0001t0026g0064 a0001c0001t0026g0065 a0001c0001t0036g0194 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0199 a0001c0002t0002g0098 a0001c0002t0002g0104 a0001c0002t0002g0122 a0001c0002t0002g0235 a0001c0002t0028g0001 a0001c0002t0033g0069 a0001c0010t0005g0074 a0002c0003t0001g0091 a0002c0003t0001g0108 a0002c0003t0001g0139 a0002c0003t0003g0224 a0002c0003t0010g0238 a0002c0003t0011g0056 a0003c0004t0007g0084 a0003c0004t0039g0099 a0004c0006t0012g0070	92	268	0.3433	35	c.172 others(54): Show c.172+44458_172+44492dupGTACTTTATATATATATAAAGGAGTT TTTATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH2_chr18_27945966_28182130	28103215	C C	CATATATA others(28): Show CATATATAAAAACTCCTTTATATATATATAAAGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0057 a0001c0001t0011g0057	1	268	0.0037	35	c.172 others(54): Show c.172+44423_172+44457dupATACTTTATATATATATAAAGGAGTT TTTATATAT	CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	2/15			chr18	TogoVar
CDH4_chr20_61247261_61945617	61367471	C C	CCAGCTTG others(28): Show CCAGCTTGAAGGGGCTCCCACTGACCCAACCTTGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02451.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0019 a0002c0014t0003 a0001c0001t0019 a0002c0014t0003	a0001c0001t0019g0091 a0002c0014t0003g0090 a0001c0001t0019g0091 a0002c0014t0003g0090	2	106	0.0189	35	c.169 others(56): Show c.169+112585_169+112619dupCCCACTGACCCAACCTTGAGCAGC TTGAAGGGGCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61534665	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0017 a0002c0002t0013g0017	1	106	0.0094	35	c.170 others(56): Show c.170-208876_170-208875insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	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(28): Show TTTATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02451.hp2 HG02559.hp1 HG01099.hp1 HG02451.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0002 a0001c0003t0001 a0001c0010t0009 a0001c0001t0002 a0001c0003t0001 a0001c0010t0009	a0001c0001t0002g0057 a0001c0003t0001g0020 a0001c0010t0009g0045 a0001c0001t0002g0057 a0001c0003t0001g0020 a0001c0010t0009g0045	3	106	0.0283	35	c.170 others(54): Show c.170-29536_170-29535insGTTATGTTATGTTATGTTATGTTATG TTATGTTAT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65844174	G G	GATTATAT others(28): Show GATTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0103 a0002c0002t0073g0103	1	208	0.0048	35	c.123 others(52): Show c.1235+111_1235+112insTATATATATATATATATATATATATATA TATATAT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH9_chr5_26875597_27043586	26924549	A A	ATTATATA others(28): Show ATTATATATATATATTATATATATAAAATAAGTATT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18952.hp2 NA18961.hp2 others(2): Show NA18949.hp2 NA18952.hp2 NA18961.hp2 NA18962.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0068 a0002c0002t0001g0207 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0068 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0216	5	240	0.0208	35	c.229 others(52): Show c.229-8626_229-8625insAATACTTATTTTATATATATAATATATA TATATAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDH9_chr5_26875597_27043586	26954388	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 NA20300.hp2 HG02145.hp2 HG02895.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0001 a0001c0007t0001 a0002c0002t0001	a0001c0007t0001g0028 a0002c0002t0001g0149 a0002c0002t0001g0152 a0001c0007t0001g0028 a0002c0002t0001g0149 a0002c0002t0001g0152	3	240	0.0125	35	c.228 others(54): Show c.228+33717_228+33718insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CDH9	ENSG00000113100.10	transcript	ENST00000231021.9	protein_coding	2/11			chr5	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(28): Show AATATATATATATATATATATATCAGATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	238	0.0042	35	c.544 others(52): Show c.544+5843_544+5844insATATATATCAGATATATATATATATATA TATATAT	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK14_chr7_90591321_91215590	90895374	C C	CCCTCCCC others(28): Show CCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	168	0.0060	35	c.640 others(52): Show c.640-3913_640-3912insCCCTCCCCTCCCCTCTCCTCTCCTCTCC TCTCCTC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04115.hp1 NA18956.hp1 others(3): Show HG00438.hp2 HG04115.hp1 NA18956.hp1 NA19057.hp2 NA19060.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0036	a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0005g0316 others(3): Show a0001c0001t0001g0155 a0001c0001t0001g0184 a0001c0001t0005g0316 a0001c0001t0007g0079 a0001c0001t0013g0031 a0001c0001t0036g0168	6	322	0.0186	35	c.100 others(54): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK17_chr12_96273261_96405439	96364163	T T	TTAACAAA others(28): Show TTAACAAACATTGGGTTGTTTTCAGTTTTTCAATAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	346	0.0029	35	c.-29 others(54): Show c.-29-29333_-29-29299dupGTATTGAAAAACTGAAAACAACCCAA TGTTTGTTA	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding	1/16			chr12	TogoVar
CDK19_chr6_110604978_110820469	110712425	G G	GATAAAGA others(28): Show GATAAAGATACTGAATCAGCATTAAATAATGTTTGA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	300	0.0033	35	c.204 others(54): Show c.204+33666_204+33700dupTCAAACATTATTTAATGCTGATTCAG TATCTTTAT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK5RAP2_chr9_120383875_120585167	120413807	C C	CGAGGAGG others(28): Show CGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	232	0.0043	35	c.429 others(54): Show c.4297+1198_4297+1232dupCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTC	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	28/37			chr9	TogoVar
CDK5RAP2_chr9_120383875_120585167	120520719	T T	TGAGATAT others(28): Show TGAGATATATCACATGATACATCTCATATATCATGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18950.hp2 NA18969.hp2 others(4): Show HG02132.hp2 NA18950.hp2 NA18969.hp2 NA18975.hp1 NA18985.hp1 NA19070.hp1 NA19078.hp2	a0001 a0003 a0001 a0003	a0001c0019 a0003c0007 a0001c0019 a0003c0007	a0001c0019t0001 a0003c0007t0001 a0001c0019t0001 a0003c0007t0001	a0001c0019t0001g0105 a0003c0007t0001g0080 a0003c0007t0001g0088 others(4): Show a0001c0019t0001g0105 a0003c0007t0001g0080 a0003c0007t0001g0088 a0003c0007t0001g0116 a0003c0007t0001g0119 a0003c0007t0001g0144 a0003c0007t0001g0173	7	232	0.0302	35	c.109 others(54): Show c.1093-2075_1093-2074insTCATGATATATGAGATGTATCATGTG ATATATCTC	CDK5RAP2	ENSG00000136861.19	transcript	ENST00000349780.9	protein_coding	11/37			chr9	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(28): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	196	0.0051	35	c.638 others(54): Show c.638+16529_638+16563dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL1_chr14_50321265_50401881	50366771	G G	GTGTCAAA others(28): Show GTGTCAAAAATGACACAAAGGTTTACACACTGGAAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG01261.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0110 a0001c0001t0068 a0001c0001t0110	a0001c0001t0068g0152 a0001c0001t0110g0003 a0001c0001t0068g0152 a0001c0001t0110g0003	2	306	0.0065	35	c.169 others(52): Show c.169-7657_169-7623dupGTTCCAGTGTGTAAACCTTTGTGTCATT TTTGACA	CDKL1	ENSG00000100490.10	transcript	ENST00000395834.6	protein_coding	2/9			chr14	TogoVar
CDKL2_chr4_75571496_75635528	75586227	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	306	0.0033	35	c.164 others(54): Show c.1648-4330_1648-4329insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	12/13			chr4	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02165.hp2 NA19000.hp1 HG00597.hp2 HG02165.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0142 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0142	3	416	0.0072	35	c.151 others(50): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02165.hp2 NA19000.hp1 HG00597.hp2 HG02165.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0185 a0001c0001t0001g0242 a0001c0001t0001g0244	3	404	0.0074	35	c.194 others(50): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990651	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	404	0.0025	35	c.193 others(52): Show c.193+3487_193+3488insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	386	0.0026	35	c.317 others(52): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEACAM19_chr19_44666482_44689355	44668531	A A	AATATATG others(28): Show AATATATGTATATAATTATATAATTATATACATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	390	0.0026	35	c.-34 others(46): Show c.-3401_-3400insATATATGTATATAATTATATAATTATATACATAT T	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2950		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668591	A A	ATATACAC others(28): Show ATATACACATATTATATATGTATATAATTATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	390	0.0026	35	c.-33 others(46): Show c.-3341_-3340insTATACACATATTATATATGTATATAATTATATAA T	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2890		chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	340	0.0029	35	c.72- others(48): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11034991	C C	CCTCACAC others(28): Show CCTCACACTTCCTCACTCTCCTAGCCTCTTCTACCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0181 a0001c0003t0002g0181	1	194	0.0052	35	c.74+ others(52): Show c.74+16829_74+16830insTCACACTTCCTCACTCTCCTAGCCTCTT CTACCTC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(28): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03017.hp1 HG04199.hp2 HG01978.hp1 HG03017.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0002t0033 a0001c0001t0011 a0001c0002t0001 a0001c0002t0033	a0001c0001t0011g0080 a0001c0002t0001g0014 a0001c0002t0033g0001 a0001c0001t0011g0080 a0001c0002t0001g0014 a0001c0002t0033g0001	3	194	0.0155	35	c.272 others(54): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF4_chr18_37238040_37570798	37491173	T T	TGCCGTGC others(28): Show TGCCGTGCCCACCTCCTCTCCTCACCTGAGAGGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0027 a0001c0001t0025 a0001c0001t0027	a0001c0001t0025g0129 a0001c0001t0027g0048 a0001c0001t0025g0129 a0001c0001t0027g0048	2	184	0.0109	35	c.287 others(52): Show c.287-5601_287-5567dupGTCCCTCTCAGGTGAGGAGAGGAGGTGG GCACGGC	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	1/12			chr18	TogoVar
CELF5_chr19_3219661_3302076	3299553	C C	CTTCTTCT others(28): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02523.hp2 HG02683.hp2 others(4): Show HG02145.hp2 HG02523.hp2 HG02683.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0002t0004 a0001c0001t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0109 others(4): Show a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0109 a0001c0001t0004g0189 a0001c0001t0004g0207 a0001c0001t0006g0015 a0001c0002t0004g0047	7	262	0.0267	35	c.28 others(46): Show c.2836_*2837insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT T	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2478		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46364504	C C	CCAGGCAC others(28): Show CCAGGCACCTTTCCTCTGCTCTGGGGGCTGGCTGCT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0027 a0027	a0027c0052 a0027c0052	a0027c0052t0001 a0027c0052t0001	a0027c0052t0001g0031 a0027c0052t0001g0031	1	104	0.0096	35	c.875 others(46): Show c.8752_8779+7dupAGCAGCCAGCCCCCAGAGCAGAGGAAAGGTGCCT G	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	33/34			chr22	TogoVar
CENPM_chr22_41933737_41952152	41934626	A A	AATTTGAG others(28): Show AATTTGAGACCAGCCTGGGCAGCATAGCAAGACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	258	0.0039	35	c.44 others(46): Show c.4429_*4430insGGGGTCTTGCTATGCTGCCCAGGCTGGTCTCAAA T	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding		4110		chr22	TogoVar
CENPO_chr2_24788425_24827376	24824618	G G	GCGGTTCA others(28): Show GCGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	382	0.0026	35	c.53 others(46): Show c.5300_*5301insCGGTTCATGCCTGTAATCCCAGCACTTTGGGAGG C	CENPO	ENSG00000138092.11	transcript	ENST00000380834.7	protein_coding		2243		chr2	TogoVar
CEP126_chr11_101910010_102006062	101990039	A A	AGGGAAAT others(28): Show AGGGAAATGTCAGGTTCCATACAAGCTGATATTAAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp1 HG02723.hp2 others(4): Show HG01346.hp1 HG02109.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp2 HG03579.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0016 a0005c0006t0040 others(1): Show a0005c0006t0013 a0005c0006t0016 a0005c0006t0040 a0005c0006t0058	a0005c0006t0013g0305 a0005c0006t0013g0306 a0005c0006t0013g0312 others(4): Show a0005c0006t0013g0305 a0005c0006t0013g0306 a0005c0006t0013g0312 a0005c0006t0016g0316 a0005c0006t0016g0318 a0005c0006t0040g0317 a0005c0006t0058g0132	7	336	0.0208	35	c.324 others(54): Show c.3245-2706_3245-2705insAGGGGAAATGTCAGGTTCCATACAAG CTGATATTA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP128_chr14_80491479_80946738	80729058	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	164	0.0061	35	c.280 others(56): Show c.2806+14016_2806+14017insACACACACACACACACACACACAC ACACACACACA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729128	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0075 a0002c0002t0015g0075	1	164	0.0061	35	c.280 others(56): Show c.2806+13946_2806+13947insCACACACACACACACACACACACA CACACACACAC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP131_chr17_81184596_81227965	81209563	A A	AAGGATCA others(28): Show AAGGATCAGAGCGCTCGGAGAAGCGGACGCTAAGCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02129.hp2 HG02280.hp2 others(22): Show HG01358.hp2 HG02129.hp2 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG03139.hp2 HG03471.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18977.hp1 NA18991.hp1 NA18993.hp2 NA18999.hp1 NA19005.hp1 NA19056.hp2 NA19081.hp1 NA19084.hp1 NA20300.hp2	a0003 a0005 a0012 others(7): Show a0003 a0005 a0012 a0014 a0020 a0022 a0024 a0028 a0030 a0045	a0003c0014 a0005c0006 a0012c0016 others(8): Show a0003c0014 a0005c0006 a0012c0016 a0014c0024 a0014c0037 a0020c0056 a0022c0030 a0024c0033 a0028c0036 a0030c0039 a0045c0070	a0003c0014t0003 a0005c0006t0001 a0012c0016t0001 others(8): Show a0003c0014t0003 a0005c0006t0001 a0012c0016t0001 a0014c0024t0001 a0014c0037t0001 a0020c0056t0001 a0022c0030t0003 a0024c0033t0003 a0028c0036t0001 a0030c0039t0001 a0045c0070t0001	a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 others(18): Show a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0257 a0005c0006t0001g0258 a0005c0006t0001g0260 a0012c0016t0001g0253 a0012c0016t0001g0255 a0012c0016t0001g0256 a0012c0016t0001g0302 a0014c0024t0001g0249 a0014c0024t0001g0254 a0014c0037t0001g0259 a0020c0056t0001g0149 a0022c0030t0003g0315 a0024c0033t0003g0313 a0028c0036t0001g0252 a0030c0039t0001g0251 a0045c0070t0001g0128	25	384	0.0651	35	c.178 others(50): Show c.178-576_178-542dupCGCTTAGCGTCCGCTTCTCCGAGCGCTCTG ATCCT	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209888	C C	CCGCTCGG others(28): Show CCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02129.hp2 NA18940.hp1 others(16): Show HG01358.hp2 HG02129.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18977.hp1 NA18991.hp1 NA18993.hp2 NA18999.hp1 NA19005.hp1 NA19056.hp2 NA19081.hp1 NA19084.hp1	a0005 a0012 a0014 others(3): Show a0005 a0012 a0014 a0020 a0028 a0030	a0005c0006 a0012c0016 a0014c0024 others(4): Show a0005c0006 a0012c0016 a0014c0024 a0014c0037 a0020c0056 a0028c0036 a0030c0039	a0005c0006t0001 a0012c0016t0001 a0014c0024t0001 others(4): Show a0005c0006t0001 a0012c0016t0001 a0014c0024t0001 a0014c0037t0001 a0020c0056t0001 a0028c0036t0001 a0030c0039t0001	a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0257 others(12): Show a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0257 a0005c0006t0001g0258 a0005c0006t0001g0260 a0012c0016t0001g0253 a0012c0016t0001g0255 a0012c0016t0001g0256 a0012c0016t0001g0302 a0014c0024t0001g0249 a0014c0024t0001g0254 a0014c0037t0001g0259 a0020c0056t0001g0149 a0028c0036t0001g0252 a0030c0039t0001g0251	19	384	0.0495	35	c.178 others(50): Show c.178-867_178-866insCTCTGATCCTCGCTTAGCGTCCGCTTCTCC GAGCG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81209958	G G	GCGCTCGG others(28): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02615.hp2 others(3): Show HG02280.hp2 HG02615.hp1 HG02615.hp2 HG03139.hp2 HG03471.hp1 NA20300.hp2	a0003 a0022 a0024 others(1): Show a0003 a0022 a0024 a0045	a0003c0014 a0022c0030 a0024c0033 others(1): Show a0003c0014 a0022c0030 a0024c0033 a0045c0070	a0003c0014t0003 a0022c0030t0003 a0024c0033t0003 others(1): Show a0003c0014t0003 a0022c0030t0003 a0024c0033t0003 a0045c0070t0001	a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 others(3): Show a0003c0014t0003g0316 a0003c0014t0003g0324 a0003c0014t0003g0326 a0022c0030t0003g0315 a0024c0033t0003g0313 a0045c0070t0001g0128	6	384	0.0156	35	c.178 others(50): Show c.178-971_178-937dupGTCTGATCCTCGCTTAGCGTCCGCTTCTCC GAGCG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP131_chr17_81184596_81227965	81210063	G G	GCGCTCGG others(28): Show GCGCTCGGAGAAGCGGACGCTAAGCGAGGATCAGAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	384	0.0026	35	c.178 others(52): Show c.178-1042_178-1041insGTCTGATCCTCGCTTAGCGTCCGCTTCT CCGAGCG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	2/25			chr17	TogoVar
CEP350_chr1_179949810_180119875	179970565	G G	GATCTGAT others(28): Show GATCTGATATAGATCTATATATCTATATAGATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0006 a0007c0031t0006	a0007c0031t0006g0017 a0007c0031t0006g0017	1	248	0.0040	35	c.-14 others(54): Show c.-14+15437_-14+15438insTATATATCTATATAGATATATATCTG ATATAGATC	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP72_chr5_607340_658553	650412	G G	GGCGTGGA others(28): Show GGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02738.hp2 others(1): Show HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03688.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0080 others(1): Show a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0080 a0005c0007t0001g0076	4	91	0.0440	35	c.177 others(54): Show c.1778+2496_1778+2497insGCGTGGACTGTGAGGCGTGGACTGTG AGGGGTGAC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11			chr5	TogoVar
CEP72_chr5_607340_658553	651087	G G	GGACTGTG others(28): Show GGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	91	0.0110	35	c.177 others(54): Show c.1779-1891_1779-1890insTGTGACTGAGGTGTGACTGAGGTGTG ACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118496356	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	302	0.0033	35	c.125 others(54): Show c.1258-4526_1258-4492dupTAAAATAAAATAAAATAAAATAAAAT AAAATAAAA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	5/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118542900	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	302	0.0033	35	c.102 others(56): Show c.1021-18981_1021-18980insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	3/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(28): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	302	0.0033	35	c.232 others(54): Show c.232+32152_232+32153insACACACCCCCCCCCCCCCCCCCCCCC CCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(28): Show GGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	302	0.0033	35	c.232 others(54): Show c.232+32152_232+32153insACACACACACACACACACCCCCCCCC CCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CERKL_chr2_181531672_181662105	181606418	G G	GGGGGAGG others(28): Show GGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03098.hp1 HG03195.hp2 HG01361.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0287 a0001c0001t0002g0154 a0001c0001t0007g0143 a0001c0001t0001g0287 a0001c0001t0002g0154 a0001c0001t0007g0143	3	298	0.0101	35	c.239 others(52): Show c.239-2340_239-2339insTCCTCTCCCCTCCCCTCCTCTCCCCTCC CCTCCCC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar

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Search Results (Total: 4618 hits)