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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CCDC125_chr5_69275175_69337801	69320586	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	341	0.0029	0	c.-40 others(5): Show c.-40-6C>T		CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	1/11					chr5	TogoVar
CCDC126_chr7_23592382_23649708	23611537	T T	TTCTATGG others(14): Show TTCTATGGCAGGATATGGTAAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19087.hp1 NA19087.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0271 a0004c0005t0001g0271	1	380	0.0026	21	c.223 others(30): Show c.223_238+5dupTCTATGGCAGGATATGGTAAG		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC127_chr5_191868_223153	196870	T T	C C	splice_region_variant splice_region_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0163 a0001c0001t0163	a0001c0001t0163g0111 a0001c0001t0163g0111	1	406	0.0025	0	c.84 others(5): Show c.8427A>G		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3					chr5	TogoVar
CCDC127_chr5_191868_223153	216863	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp2 NA18957.hp1 NA18959.hp1 others(4): Show NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18992.hp1 NA18998.hp2 NA19062.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0141 a0001c0001t0186 a0001c0001t0001 a0001c0001t0141 a0001c0001t0186	a0001c0001t0001g0007 a0001c0001t0141g0060 a0001c0001t0186g0059 a0001c0001t0001g0007 a0001c0001t0141g0060 a0001c0001t0186g0059	7	406	0.0172	0	c.-10 others(5): Show c.-10-4C>A		CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	1/2					chr5	TogoVar
CCDC136_chr7_128786968_128827130	128804766	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02922.hp2 HG02965.hp2 HG02055.hp2 HG02922.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0026 a0001c0007t0002g0026	3	380	0.0079	0	c.782 others(5): Show c.782+5A>C		CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	5/17					chr7	TogoVar
CCDC136_chr7_128786968_128827130	128804766	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(73): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0013 a0010c0014 a0001c0001 a0009c0013 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0009c0013t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0009c0013t0002 a0010c0014t0002	a0001c0001t0001g0046 a0001c0001t0001g0198 a0001c0001t0002g0009 others(59): Show a0001c0001t0001g0046 a0001c0001t0001g0198 a0001c0001t0002g0009 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0009c0013t0002g0045 a0010c0014t0002g0204	76	380	0.2000	0	c.782 others(5): Show c.782+5A>G		CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	5/17					chr7	TogoVar
CCDC136_chr7_128786968_128827130	128806393	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0145 a0012c0019t0001g0145	1	380	0.0026	0	c.124 others(4): Show c.1246A>C	p.Lys others(6): Show p.Lys416Gln	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	8/18	1690/4246	1246/3465	416/1154		chr7	TogoVar
CCDC136_chr7_128786968_128827130	128807353	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0142 a0001c0005t0001g0142	1	380	0.0026	0	c.142 others(6): Show c.1420-7T>A		CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	9/17					chr7	TogoVar
CCDC136_chr7_128786968_128827130	128807354	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0142 a0001c0005t0001g0142	1	380	0.0026	0	c.142 others(6): Show c.1420-6G>T		CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	9/17					chr7	TogoVar
CCDC137_chr17_81661737_81678899	81667722	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0040 a0001c0001t0020g0040	1	412	0.0024	0	c.135 others(5): Show c.135-7C>A		CCDC137	ENSG00000185298.13	transcript	ENST00000329214.13	protein_coding	1/5					chr17	TogoVar
CCDC138_chr2_108781771_108881578	108786919	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG02145.hp1 HG02257.hp1 others(8): Show HG01175.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02647.hp1 HG02965.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 others(8): Show a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0002g0215	11	220	0.0500	0	c.93+ others(4): Show c.93+4A>C		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14					chr2	TogoVar
CCDC138_chr2_108781771_108881578	108788965	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03471.hp1 HG03486.hp2 HG03579.hp2 others(2): Show HG03471.hp1 HG03486.hp2 HG03579.hp2 NA19043.hp1 NA20129.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 others(2): Show a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0004c0007t0002g0126	5	220	0.0227	0	c.265 others(3): Show c.265T>C	p.Cys others(5): Show p.Cys89Arg	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	3/15	317/2375	265/1998	89/665		chr2	TogoVar
CCDC138_chr2_108781771_108881578	108794724	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02572.hp1 HG02886.hp2 others(4): Show HG01243.hp1 HG02572.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0012 a0001c0004 a0001c0012	a0001c0004t0001 a0001c0012t0001 a0001c0004t0001 a0001c0012t0001	a0001c0004t0001g0009 a0001c0004t0001g0011 a0001c0004t0001g0012 others(4): Show a0001c0004t0001g0009 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0012t0001g0010	7	220	0.0318	0	c.576 others(5): Show c.576+3A>G		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	5/14					chr2	TogoVar
CCDC138_chr2_108781771_108881578	108804878	TCTC TCTC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(33): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp1 HG01891.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG03098.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18945.hp1 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0008	a0002c0002 a0003c0003 a0007c0014 others(1): Show a0002c0002 a0003c0003 a0007c0014 a0008c0015	a0002c0002t0001 a0003c0003t0001 a0007c0014t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0007c0014t0001 a0008c0015t0001	a0002c0002t0001g0195 a0003c0003t0001g0002 a0003c0003t0001g0121 others(32): Show a0002c0002t0001g0195 a0003c0003t0001g0002 a0003c0003t0001g0121 a0003c0003t0001g0135 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0180 a0003c0003t0001g0184 a0007c0014t0001g0136 a0008c0015t0001g0194	36	220	0.1636	-3	c.736 others(14): Show c.736-5_736-3delCCT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	6/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC138_chr2_108781771_108881578	108812821	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0166 a0006c0008t0001g0166	1	220	0.0046	0	c.935 others(3): Show c.935G>C	p.Arg others(6): Show p.Arg312Thr	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	9/15	987/2375	935/1998	312/665		chr2	TogoVar
CCDC13_chr3_42700756_42778253	42735707	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0055 a0003c0018t0003g0055	1	320	0.0031	0	c.137 others(4): Show c.1371C>T	p.His others(6): Show p.His457His	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	10/16	1455/5456	1371/2148	457/715		chr3	TogoVar
CCDC13_chr3_42700756_42778253	42773176	A A	T T	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00733.hp1 HG01109.hp1 others(46): Show HG00099.hp2 HG00733.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01346.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp2 HG03688.hp1 HG03831.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0003c0018 others(1): Show a0001c0001 a0003c0003 a0003c0018 a0005c0007	a0001c0001t0020 a0001c0001t0021 a0003c0003t0003 others(6): Show a0001c0001t0020 a0001c0001t0021 a0003c0003t0003 a0003c0003t0006 a0003c0003t0022 a0003c0003t0024 a0003c0018t0003 a0005c0007t0003 a0005c0007t0023	a0001c0001t0020g0025 a0001c0001t0021g0021 a0003c0003t0003g0007 others(41): Show a0001c0001t0020g0025 a0001c0001t0021g0021 a0003c0003t0003g0007 a0003c0003t0003g0018 a0003c0003t0003g0020 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0006g0001 a0003c0003t0006g0019 a0003c0003t0006g0036 a0003c0003t0006g0043 a0003c0003t0022g0050 a0003c0003t0024g0031 a0003c0018t0003g0055 a0005c0007t0003g0006 a0005c0007t0003g0023 a0005c0007t0003g0024 a0005c0007t0003g0044 a0005c0007t0023g0022	49	320	0.1531	0	c.-7T others(2): Show c.-7T>A		CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	1/16					chr3	TogoVar
CCDC141_chr2_178824757_179055137	178850169	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02647.hp1 NA19240.hp2 HG02559.hp1 HG02647.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0033 a0002c0003 a0001c0001 a0001c0033 a0002c0003	a0001c0001t0047 a0001c0033t0052 a0002c0003t0048 a0001c0001t0047 a0001c0033t0052 a0002c0003t0048	a0001c0001t0047g0119 a0001c0033t0052g0081 a0002c0003t0048g0266 a0001c0001t0047g0119 a0001c0033t0052g0081 a0002c0003t0048g0266	3	274	0.0110	0	c.324 others(6): Show c.3245-8C>T		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	20/23					chr2	TogoVar
CCDC141_chr2_178824757_179055137	178944651	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0009 a0010c0019t0009	a0010c0019t0009g0006 a0010c0019t0009g0072 a0010c0019t0009g0006 a0010c0019t0009g0072	2	274	0.0073	0	c.781 others(3): Show c.781G>C	p.Val others(6): Show p.Val261Leu	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	6/24	977/9205	781/4593	261/1530		chr2	TogoVar
CCDC142_chr2_74467832_74487998	74481215	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	370	0.0027	0	c.125 others(6): Show c.1258+8G>A		CCDC142	ENSG00000135637.14	transcript	ENST00000393965.8	protein_coding	3/8					chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16707545	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0011 a0016c0026t0011	a0016c0026t0011g0317 a0016c0026t0011g0317	1	318	0.0031	0	c.738 others(5): Show c.738+3G>T		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	4/16					chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16709638	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0241 a0002c0002t0003g0241	1	318	0.0031	0	c.157 others(6): Show c.1578+3A>G		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16					chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16720183	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02258.hp1 HG02630.hp1 others(11): Show HG01884.hp2 HG02258.hp1 HG02630.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0016 a0002c0002t0004 a0002c0002t0016	a0002c0002t0004g0301 a0002c0002t0004g0302 a0002c0002t0004g0303 others(11): Show a0002c0002t0004g0301 a0002c0002t0004g0302 a0002c0002t0004g0303 a0002c0002t0004g0304 a0002c0002t0004g0305 a0002c0002t0004g0306 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0310 a0002c0002t0004g0311 a0002c0002t0004g0312 a0002c0002t0004g0313 a0002c0002t0016g0298	14	318	0.0440	-1	c.171 others(7): Show c.1716-4delT		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	6/16				INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16727745	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	318	0.0031	0	c.210 others(6): Show c.2105+5G>C		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16					chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16731983	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0231 a0002c0014t0002g0231	1	318	0.0031	0	c.228 others(4): Show c.2289G>A	p.Leu others(6): Show p.Leu763Leu	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	10/17	2449/8686	2289/4278	763/1425		chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16732666	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(34): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp2 HG01358.hp2 HG01952.hp2 HG01975.hp1 HG02273.hp1 HG03942.hp2 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18980.hp2 NA18986.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19076.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0012 a0001c0003t0020 a0001c0003t0001 a0001c0003t0012 a0001c0003t0020	a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(34): Show a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0035 a0001c0003t0001g0037 a0001c0003t0001g0042 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0136 a0001c0003t0001g0173 a0001c0003t0001g0181 a0001c0003t0012g0135 a0001c0003t0012g0137 a0001c0003t0020g0062	37	318	0.1164	0	c.241 others(4): Show c.2418G>A	p.Glu others(6): Show p.Glu806Glu	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	11/17	2578/8686	2418/4278	806/1425		chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16733958	CGAAACCC others(1665): Show CGAAACCCCATCTCTACAAAAAGTACAAATACATTTAGCTGCGTGTGGGG GTGTGTGCCTCTAGTTCAGCTACCCAGGAGGCTGAAGTGGGAGGATCACC TGAGCCCGGGAGGCCAAGGCTACAGTGAGTCTTGATTGCGTCACTGCCCT CTAACCTGAGTGATGGAGTGGAGACCCTATCTCGAAAAAAAAAAAAAAAA AGCCTAATATAATGCTTAGATTTAGCATTTATGAATAAATGTAATTCTTA TATAACTGATGAGAAAAATGTTAGAAAAATAAATAGCTATAGAATATTCT CAGGAAAAAAAGAACTTAAAGAACGTTGGAACATTTCCTCTGTCCAGATA TATGCAAAGCTACAGCTTTTACTATAGGGTGGTGTATAGGTTAGATGTCA GAGTGTAAAGCCAATTTTTTAATGTAGTCAAATTTATTAATCTTTAATGC CTTTGAGTTTGTTGTAATTTGGAGACCGTCTTTTCCAATTCTGAGATGCT TAAAAATTCTCTAGTTATTTATGTTCTACATTCATGGATTCATTGTCTTC AAATAAACTTATGAAGTTTTGGGAATTTATGCTCTATGAGGTTTGAAGTT TCGATAGAATATTTTTTTCCAGTTGGATATCCACTTATGGCAATCTTTTC ATTGTATACATTATTTAATTTCAGAGAAAATCATAATCTGTCATTTTATT GAGTGCTACTGAATGTTTCCTTTCTTACTTAGATTTCTCATAGGCATCAG AAAGAAAAGGATCTCTTTCATGAAGATTGCATGTTGCAGGAAGAAATTGC CTTGCTGAGACTGGAAATAGATACAATAAAAAATCAGAACAAGCAAAAGG AAAAGAAATATTTTGAGGACATTGAGGCTGTGAAAGAAAAGAATGATAAC CTTCAAAAAATTATAAAACTAAATGAGGAAACATTAACAGAAACAATACT CCAGTACAGTGGACAGCTGAACAATCTGACAGCTGAGAACAAAATACTCA ATTCTGAACTGGAGAATGGGAAACAGAACCAAGAAAGACTAGAAATAGAA ATGGAATCATACCGTTGTAGACTAGCTGCTGCTGTACGTGACTGTGATCA AAGTCAGACAGCAAGAGACCTAAAACTTGATTTCCAGAGAACAAGACAAG AGTGGGTTCGTTTACATGACAAAATGAAGGTTGATATGTCTGGCCTACAA GCTAAGAATGAGATTCTTTCTGAAAAACTTTCTAATGCTGAAAGTAAAAT TAACAGCCTACAAATTCAGCTCCATAACACAAGAGATGCTCTTGGAAGAG AGAGTTTGATTTTGGAACGTGTGCAAAGAGACCTCAGCCAAACACAGTGT CAGAAGAAAGAAACTGAACAAATGTACCAAATTGAACAAAGCAAACTGAA GAAATACATTGCCAAGCAGGAATCTGTAGAGGAGAGATTATCTCAACTAC AAAGTGAAAATATGTTGCTTCGACAGCAACTGGATGATGCTCACAAGAAA GCTAACAGTCAAGAAAAGACAAGCAGTACTATCCAAGACCAGTTTCATTC TGCTGCCAAAAATCTTCAAGCTGAGAGTGAAAAGCAGATTCTTTCACTAC AAGAGAAGAACAAGGAGCTGATGGATGAATATAATCATTTAAAAGAAAGA ATGGATCAATGTGAGAAAGAGAA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0025 a0008c0020t0001g0025	1	318	0.0031	-1672	c.241 others(13): Show c.2419-731_3359del	p.Ile others(5): Show p.Ile807fs	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/17		2419/4278	807/1425		chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16735641	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0043 a0009c0018t0001g0043	1	318	0.0031	0	c.337 others(4): Show c.3370A>G	p.Lys others(7): Show p.Lys1124Glu	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/17	3530/8686	3370/4278	1124/1425		chr17	TogoVar
CCDC146_chr7_77117615_77300204	77254489	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(14): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03710.hp2 NA18985.hp1 NA19003.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0001c0033 a0003c0003 a0003c0010 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0007t0002 a0001c0033t0001 a0003c0003t0001 a0003c0003t0002 a0003c0010t0001 a0003c0011t0001	a0001c0001t0001g0069 a0001c0001t0002g0061 a0001c0001t0002g0065 others(14): Show a0001c0001t0001g0069 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0006t0001g0091 a0001c0007t0002g0078 a0001c0033t0001g0145 a0003c0003t0001g0233 a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0011 a0003c0010t0001g0044 a0003c0010t0001g0073 a0003c0010t0001g0234 a0003c0011t0001g0004	17	248	0.0686	1	c.450 others(6): Show c.450-5dupT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	4/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77254489	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG02818.hp2 HG02970.hp1 others(2): Show HG00609.hp1 HG02818.hp2 HG02970.hp1 HG03209.hp2 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0001 a0002c0002t0002 a0002c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0022t0002	a0002c0002t0001g0096 a0002c0002t0001g0133 a0002c0002t0001g0197 others(2): Show a0002c0002t0001g0096 a0002c0002t0001g0133 a0002c0002t0001g0197 a0002c0002t0002g0036 a0002c0022t0002g0035	5	248	0.0202	-1	c.450 others(6): Show c.450-5delT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	4/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77274467	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(60): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG01070.hp2 HG01099.hp2 HG01192.hp1 HG01361.hp1 HG01928.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02970.hp1 HG03209.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18981.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19068.hp1 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0022 a0002c0002 a0002c0009 a0002c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0009t0002 a0002c0022t0001 a0002c0022t0002	a0002c0002t0001g0001 a0002c0002t0001g0051 a0002c0002t0001g0075 others(59): Show a0002c0002t0001g0001 a0002c0002t0001g0051 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0123 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0176 a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0221 a0002c0002t0001g0236 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0002g0036 a0002c0002t0002g0064 a0002c0002t0002g0101 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0237 a0002c0002t0004g0243 a0002c0009t0002g0161 a0002c0009t0002g0227 a0002c0009t0002g0231 a0002c0009t0002g0232 a0002c0009t0002g0239 a0002c0009t0002g0246 a0002c0022t0001g0223 a0002c0022t0002g0035	63	248	0.2540	-1	c.127 others(7): Show c.1270-7delT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	10/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC149_chr4_24798514_24918042	24819861	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19000.hp2 NA19000.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0031 a0007c0013t0031	a0007c0013t0031g0269 a0007c0013t0031g0269	1	354	0.0028	0	c.117 others(4): Show c.1175A>G	p.Asp others(6): Show p.Asp392Gly	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	12/13	1353/6661	1175/1608	392/535		chr4	TogoVar
CCDC153_chr11_119185254_119200841	119190254	T T	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(162): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0003c0004 a0006c0010 others(1): Show a0001c0001 a0003c0004 a0006c0010 a0008c0013	a0001c0001t0002 a0003c0004t0002 a0006c0010t0002 others(1): Show a0001c0001t0002 a0003c0004t0002 a0006c0010t0002 a0008c0013t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0003c0004t0002g0017 a0003c0004t0002g0034 a0003c0004t0002g0050 a0003c0004t0002g0102 a0003c0004t0002g0103 a0006c0010t0002g0074 a0008c0013t0002g0077	165	428	0.3855	0	c.46 others(3): Show c.46A>G		CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding	7/7					chr11	TogoVar
CCDC153_chr11_119185254_119200841	119194999	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(313): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0009 a0002c0002 others(8): Show a0001c0001 a0001c0009 a0002c0002 a0002c0006 a0002c0011 a0003c0004 a0004c0005 a0005c0008 a0006c0010 a0007c0012 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0002t0001 a0002c0006t0001 a0002c0011t0001 a0003c0004t0002 a0004c0005t0001 a0005c0008t0001 a0006c0010t0002 a0007c0012t0001 a0008c0013t0002	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0029 others(71): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0009t0001g0072 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0006t0001g0046 a0002c0011t0001g0097 a0003c0004t0002g0017 a0003c0004t0002g0034 a0003c0004t0002g0050 a0003c0004t0002g0102 a0003c0004t0002g0103 a0004c0005t0001g0051 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0107 a0004c0005t0001g0108 a0004c0005t0001g0109 a0004c0005t0001g0110 a0005c0008t0001g0084 a0006c0010t0002g0074 a0007c0012t0001g0089 a0008c0013t0002g0077	316	428	0.7383	0	c.65- others(4): Show c.65-5C>G		CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding	2/6					chr11	TogoVar
CCDC154_chr16_1429383_1449556	1434384	C C	A A	splice_region_variant splice_region_variant	LOW	HG00621.hp2 HG00639.hp2 HG01099.hp1 others(52): Show HG00621.hp2 HG00639.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18522.hp2 NA18953.hp1 NA18956.hp2 NA18966.hp2 NA18972.hp1 NA18981.hp1 NA18987.hp2 NA18997.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0019 a0026	a0001c0002 a0001c0027 a0002c0003 others(7): Show a0001c0002 a0001c0027 a0002c0003 a0002c0006 a0002c0038 a0002c0039 a0007c0014 a0011c0018 a0019c0028 a0026c0029	a0001c0002t0003 a0001c0002t0010 a0001c0027t0003 others(10): Show a0001c0002t0003 a0001c0002t0010 a0001c0027t0003 a0002c0003t0003 a0002c0003t0012 a0002c0006t0003 a0002c0006t0006 a0002c0038t0006 a0002c0039t0003 a0007c0014t0003 a0011c0018t0003 a0019c0028t0003 a0026c0029t0003	a0001c0002t0003g0036 a0001c0002t0003g0087 a0001c0002t0010g0030 others(25): Show a0001c0002t0003g0036 a0001c0002t0003g0087 a0001c0002t0010g0030 a0001c0027t0003g0067 a0002c0003t0003g0006 a0002c0003t0003g0008 a0002c0003t0003g0028 a0002c0003t0003g0054 a0002c0003t0003g0063 a0002c0003t0003g0066 a0002c0003t0003g0105 a0002c0003t0003g0107 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0118 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0012g0049 a0002c0006t0003g0034 a0002c0006t0003g0117 a0002c0006t0003g0167 a0002c0006t0006g0014 a0002c0038t0006g0186 a0002c0039t0003g0168 a0007c0014t0003g0043 a0011c0018t0003g0104 a0019c0028t0003g0108 a0026c0029t0003g0112	55	416	0.1322	0	c.24 others(3): Show c.24G>T		CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	17/17					chr16	TogoVar
CCDC154_chr16_1429383_1449556	1435970	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0003 a0019c0028t0003	a0019c0028t0003g0108 a0019c0028t0003g0108	1	416	0.0024	0	c.160 others(4): Show c.1604C>T	p.Thr others(6): Show p.Thr535Met	CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	14/17	1838/2263	1604/2004	535/667		chr16	TogoVar
CCDC154_chr16_1429383_1449556	1442873	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	416	0.0024	0	c.551 others(5): Show c.551+7G>A		CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	5/16					chr16	TogoVar
CCDC154_chr16_1429383_1449556	1442983	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	416	0.0024	0	c.456 others(5): Show c.456-8T>G		CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	4/16					chr16	TogoVar
CCDC154_chr16_1429383_1449556	1443789	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	416	0.0024	0	c.224 others(5): Show c.224+7C>A		CCDC154	ENSG00000197599.13	transcript	ENST00000389176.4	protein_coding	2/16					chr16	TogoVar
CCDC157_chr22_30352007_30383673	30362119	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 NA18942.hp2 NA18953.hp1 others(4): Show HG00423.hp2 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA19001.hp2 NA19009.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0090 others(1): Show a0001c0001t0002g0022 a0001c0001t0002g0037 a0001c0001t0002g0090 a0001c0001t0021g0102	7	440	0.0159	0	c.-12 others(5): Show c.-12+5G>A		CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	2/11					chr22	TogoVar
CCDC157_chr22_30352007_30383673	30373917	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(47): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02055.hp2 HG02083.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03831.hp1 HG04228.hp1 NA18747.hp1 NA18951.hp1 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18990.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19081.hp1 NA19088.hp2	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0003 a0007c0010 a0009c0012 a0002c0003 a0007c0010 a0009c0012	a0002c0003t0004 a0002c0003t0011 a0002c0003t0012 others(6): Show a0002c0003t0004 a0002c0003t0011 a0002c0003t0012 a0002c0003t0013 a0002c0003t0016 a0002c0003t0017 a0002c0003t0024 a0007c0010t0004 a0009c0012t0004	a0002c0003t0004g0003 a0002c0003t0004g0030 a0002c0003t0004g0031 others(30): Show a0002c0003t0004g0003 a0002c0003t0004g0030 a0002c0003t0004g0031 a0002c0003t0004g0052 a0002c0003t0004g0053 a0002c0003t0004g0054 a0002c0003t0004g0182 a0002c0003t0004g0225 a0002c0003t0004g0227 a0002c0003t0004g0228 a0002c0003t0004g0230 a0002c0003t0004g0231 a0002c0003t0004g0233 a0002c0003t0004g0234 a0002c0003t0004g0235 a0002c0003t0004g0236 a0002c0003t0004g0237 a0002c0003t0004g0238 a0002c0003t0004g0239 a0002c0003t0004g0240 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0011g0032 a0002c0003t0012g0003 a0002c0003t0012g0226 a0002c0003t0013g0003 a0002c0003t0013g0030 a0002c0003t0016g0232 a0002c0003t0017g0003 a0002c0003t0024g0245 a0007c0010t0004g0003 a0009c0012t0004g0056 a0009c0012t0004g0229	50	440	0.1136	0	c.150 others(6): Show c.1504-6T>C		CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	8/11					chr22	TogoVar
CCDC157_chr22_30352007_30383673	30375481	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01943.hp1 HG01943.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0002 a0020c0020t0002	a0020c0020t0002g0011 a0020c0020t0002g0011	1	440	0.0023	0	c.167 others(4): Show c.1675G>A	p.Gly others(6): Show p.Gly559Ser	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	10/12	1966/4478	1675/2259	559/752		chr22	TogoVar
CCDC157_chr22_30352007_30383673	30376239	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00408.hp2 HG01106.hp1 others(37): Show HG00099.hp1 HG00408.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01981.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02145.hp2 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp2 HG03041.hp2 HG03942.hp2 HG04184.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18984.hp2 NA18989.hp1 NA19000.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp2 NA19077.hp2 NA19083.hp2 NA19240.hp1	a0001 a0005 a0019 others(1): Show a0001 a0005 a0019 a0025	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0024 a0005c0009 a0019c0023 a0025c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0014 a0001c0004t0001 a0001c0004t0009 a0001c0024t0025 a0005c0009t0001 a0019c0023t0003 a0025c0034t0001	a0001c0001t0001g0044 a0001c0001t0001g0141 a0001c0001t0001g0148 others(27): Show a0001c0001t0001g0044 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0218 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0173 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0008g0091 a0001c0002t0002g0036 a0001c0002t0002g0089 a0001c0002t0002g0114 a0001c0002t0002g0187 a0001c0002t0014g0190 a0001c0004t0001g0018 a0001c0004t0001g0074 a0001c0004t0001g0132 a0001c0004t0001g0160 a0001c0004t0001g0165 a0001c0004t0009g0020 a0001c0024t0025g0183 a0005c0009t0001g0051 a0019c0023t0003g0209 a0025c0034t0001g0133	40	440	0.0909	1	c.185 others(7): Show c.1858-5dupT		CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC157_chr22_30352007_30383673	30376239	C C	CTT CTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(46): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG02015.hp1 HG02055.hp2 HG02083.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 NA18747.hp1 NA18951.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18978.hp1 NA18988.hp2 NA18990.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19081.hp1 NA19088.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0004 a0002c0003 a0007c0010 others(1): Show a0001c0004 a0002c0003 a0007c0010 a0009c0012	a0001c0004t0001 a0002c0003t0004 a0002c0003t0011 others(7): Show a0001c0004t0001 a0002c0003t0004 a0002c0003t0011 a0002c0003t0012 a0002c0003t0013 a0002c0003t0016 a0002c0003t0017 a0002c0003t0024 a0007c0010t0004 a0009c0012t0004	a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0161 others(29): Show a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0161 a0002c0003t0004g0003 a0002c0003t0004g0030 a0002c0003t0004g0031 a0002c0003t0004g0052 a0002c0003t0004g0053 a0002c0003t0004g0054 a0002c0003t0004g0182 a0002c0003t0004g0228 a0002c0003t0004g0230 a0002c0003t0004g0231 a0002c0003t0004g0233 a0002c0003t0004g0234 a0002c0003t0004g0235 a0002c0003t0004g0236 a0002c0003t0004g0237 a0002c0003t0004g0238 a0002c0003t0004g0239 a0002c0003t0004g0242 a0002c0003t0004g0243 a0002c0003t0011g0032 a0002c0003t0012g0003 a0002c0003t0013g0003 a0002c0003t0013g0030 a0002c0003t0016g0232 a0002c0003t0017g0003 a0002c0003t0024g0245 a0007c0010t0004g0003 a0009c0012t0004g0056 a0009c0012t0004g0229	49	440	0.1114	2	c.185 others(15): Show c.1858-6_1858-5dupTT		CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC158_chr4_76308039_76426141	76357374	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0220 a0016c0019t0001g0220	1	348	0.0029	0	c.217 others(4): Show c.2173G>T	p.Ala others(6): Show p.Ala725Ser	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	14/25	2466/3778	2173/3354	725/1117		chr4	TogoVar
CCDC158_chr4_76308039_76426141	76357525	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0007 a0001c0007t0001g0267 a0001c0007t0001g0007 a0001c0007t0001g0267	3	348	0.0086	0	c.202 others(4): Show c.2022G>A	p.Glu others(6): Show p.Glu674Glu	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	14/25	2315/3778	2022/3354	674/1117		chr4	TogoVar
CCDC158_chr4_76308039_76426141	76369426	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp2 HG02809.hp1 HG02809.hp2 others(7): Show HG01109.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG06807.hp1	a0003 a0006 a0007 a0003 a0006 a0007	a0003c0005 a0003c0008 a0006c0010 others(1): Show a0003c0005 a0003c0008 a0006c0010 a0007c0024	a0003c0005t0004 a0003c0008t0005 a0006c0010t0006 others(1): Show a0003c0005t0004 a0003c0008t0005 a0006c0010t0006 a0007c0024t0004	a0003c0005t0004g0328 a0003c0005t0004g0329 a0003c0005t0004g0331 others(7): Show a0003c0005t0004g0328 a0003c0005t0004g0329 a0003c0005t0004g0331 a0003c0005t0004g0332 a0003c0008t0005g0325 a0003c0008t0005g0326 a0003c0008t0005g0327 a0006c0010t0006g0010 a0006c0010t0006g0011 a0007c0024t0004g0330	10	348	0.0287	0	c.134 others(4): Show c.1347G>A	p.Gln others(6): Show p.Gln449Gln	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	11/25	1640/3778	1347/3354	449/1117		chr4	TogoVar
CCDC158_chr4_76308039_76426141	76384413	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0310 a0009c0012t0002g0310	1	348	0.0029	0	c.401 others(3): Show c.401G>A	p.Arg others(6): Show p.Arg134Gln	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	6/25	694/3778	401/3354	134/1117		chr4	TogoVar
CCDC159_chr19_11341519_11359944	11350810	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp1 HG01109.hp1 HG01358.hp2 others(25): Show HG00738.hp1 HG01109.hp1 HG01358.hp2 HG01934.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0019 others(7): Show a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0053 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059	28	358	0.0782	0	c.229 others(3): Show c.229G>T	p.Val others(5): Show p.Val77Leu	CCDC159	ENSG00000183401.12	transcript	ENST00000458408.6	protein_coding	5/11	317/1049	229/894	77/297		chr19	TogoVar
CCDC15_chr11_124949202_125046489	125003859	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(79): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18979.hp1 NA18986.hp2 NA18990.hp1 NA18999.hp2 NA19003.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp2 NA19077.hp2 NA19082.hp1 NA19086.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0002 a0002c0004 a0002c0018 others(2): Show a0002c0002 a0002c0004 a0002c0018 a0008c0013 a0009c0017	a0002c0002t0001 a0002c0002t0013 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0013 a0002c0004t0001 a0002c0018t0001 a0008c0013t0001 a0009c0017t0001	a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0034 others(77): Show a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0013g0083 a0002c0004t0001g0088 a0002c0004t0001g0089 a0002c0004t0001g0090 a0002c0004t0001g0091 a0002c0018t0001g0077 a0008c0013t0001g0082 a0009c0017t0001g0039	82	350	0.2343	-1	c.221 others(7): Show c.2215-6delT		CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	11/15				INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)