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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⚠️ 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	distance	status	chr	external
CCDC192_chr5_127698391_127946507	127792525	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0089 a0003c0004t0001g0089	1	234	0.0043	18	c.223 others(35): Show c.223-4573_223-4556dupATATATATATATATATAT		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127800376	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02615.hp1 HG02071.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0207 a0001c0001t0001g0213	2	234	0.0086	18	c.411 others(35): Show c.411+2222_411+2239dupAAAAAAAAAAAAAAAAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127907517	T T	TAATATAA others(11): Show TAATATAAATAGATGTTAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	234	0.0043	18	c.535 others(37): Show c.535+31858_535+31875dupATATAAATAGATGTTAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127912419	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	234	0.0043	18	c.536 others(37): Show c.536-28759_536-28742dupAAAAAAAAAAAAAAAAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127918216	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0084 a0003c0004t0001g0093 a0001c0002t0001g0084 a0003c0004t0001g0093	2	234	0.0086	18	c.536 others(37): Show c.536-22964_536-22947dupAAAAAAAAAAAAAAAAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127944236	T T	TGGGTTCA others(11): Show TGGGTTCAGGCAATCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	234	0.0043	18	c.27 others(29): Show c.2768_*2769insGGGTTCAGGCAATCTTCC		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding					2730		chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02300.hp2 HG04184.hp1 others(3): Show HG01346.hp2 HG02300.hp2 HG04184.hp1 HG04228.hp2 NA18960.hp1 NA19059.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0002g0113 a0001c0001t0008g0103 others(3): Show a0001c0001t0001g0001 a0001c0001t0002g0113 a0001c0001t0008g0103 a0001c0001t0018g0024 a0002c0002t0002g0003 a0002c0002t0002g0005	6	414	0.0145	18	c.82 others(29): Show c.8232_*8233insCTTTCTTTCTTTCTTTCT		CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding					4919		chr19	TogoVar
CCDC194_chr19_17382196_17399196	17382280	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG04115.hp1 HG00438.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0054 a0001c0001t0008 a0001c0001t0054	a0001c0001t0008g0009 a0001c0001t0054g0102 a0001c0001t0008g0009 a0001c0001t0054g0102	2	414	0.0048	18	c.82 others(29): Show c.8228_*8229insCTTTCTTTCTTTCTTTCT		CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding					4915		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224706189	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0220 a0001c0001t0000g0220	1	412	0.0024	18	c.483 others(35): Show c.483-2320_483-2303dupAAAAAAAAAAAAAAAAAA		CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2						chr2	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AGTATATA others(11): Show AGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	334	0.0030	18	c.106 others(35): Show c.106-1129_106-1128insATATATATATATATATAC		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3						chr17	TogoVar
CCDC200_chr17_43216420_43233623	43230678	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01175.hp1 HG01175.hp2 others(4): Show HG01168.hp2 HG01175.hp1 HG01175.hp2 HG02083.hp1 HG02647.hp1 HG03831.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0034 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0034 a0001c0001t0002g0173 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0225	7	334	0.0210	18	c.-21 others(29): Show c.-2142_-2125dupTTTTTTTTTTTTTTTTTT		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					2056		chr17	TogoVar
CCDC25_chr8_27728316_27777640	27759779	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18947.hp2 NA19002.hp2 others(1): Show HG03669.hp1 NA18947.hp2 NA19002.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0041 a0001c0001t0001g0153 a0001c0001t0001g0155	4	368	0.0109	18	c.116 others(35): Show c.116+2622_116+2639dupTTTTTTTTTTTTTTTTTT		CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	3/8						chr8	TogoVar
CCDC30_chr1_42458286_42662190	42553384	T T	TGTTTTAT others(11): Show TGTTTTATATATAATGTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(54): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02300.hp1 HG02683.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG04199.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18954.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA19007.hp2 NA19055.hp1 NA19067.hp2 NA19084.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0013 a0003c0014 others(1): Show a0001c0001 a0001c0013 a0003c0014 a0010c0025	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0013t0031 a0003c0014t0028 a0010c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0070 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0197 a0001c0001t0007g0054 a0001c0001t0007g0087 a0001c0001t0007g0165 a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0023g0128 a0001c0001t0025g0130 a0001c0001t0030g0146 a0001c0013t0031g0129 a0003c0014t0028g0067 a0010c0025t0001g0120	57	324	0.1759	18	c.891 others(35): Show c.891-2771_891-2754dupGTTTTATATATAATGTTC		CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42575649	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(42): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01952.hp2 HG01981.hp2 HG02056.hp2 HG02083.hp1 HG02602.hp2 HG02735.hp1 HG03669.hp2 HG03927.hp2 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA19001.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19055.hp2 NA19063.hp2 NA19065.hp1 NA19081.hp2 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0004 a0009c0023 a0001c0002 a0001c0004 a0009c0023	a0001c0002t0002 a0001c0002t0021 a0001c0002t0032 others(5): Show a0001c0002t0002 a0001c0002t0021 a0001c0002t0032 a0001c0002t0033 a0001c0002t0043 a0001c0004t0005 a0001c0004t0015 a0009c0023t0002	a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 others(42): Show a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0224 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0295 a0001c0002t0021g0249 a0001c0002t0021g0256 a0001c0002t0032g0209 a0001c0002t0033g0266 a0001c0002t0043g0296 a0001c0004t0005g0227 a0001c0004t0005g0238 a0001c0004t0015g0210 a0009c0023t0002g0223	45	324	0.1389	18	c.132 others(37): Show c.1321-1362_1321-1361insAAAAAAAAAAAAAAAAAA		CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC33_chr15_74231326_74341141	74308354	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG03195.hp1 others(2): Show HG02895.hp2 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0031 a0001c0001 a0011c0031	a0001c0001t0001 a0011c0031t0002 a0001c0001t0001 a0011c0031t0002	a0001c0001t0001g0002 a0001c0001t0001g0255 a0011c0031t0002g0098 a0001c0001t0001g0002 a0001c0001t0001g0255 a0011c0031t0002g0098	5	288	0.0174	18	c.129 others(39): Show c.1290+12409_1290+12410insCACACACACACACACACA		CCDC33	ENSG00000140481.15	transcript	ENST00000398814.8	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
CCDC34_chr11_27333512_27368215	27362901	T T	TTCATCCA others(11): Show TTCATCCACGTCTTCCTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG06807.hp2 HG06807.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0258 a0007c0010t0001g0258	1	358	0.0028	18	c.276 others(25): Show c.276_293dupTGAGGAAGACGTGGATGA	p.Asp others(11): Show p.Asp92_Asp97dup	CCDC34	ENSG00000109881.17	transcript	ENST00000328697.11	protein_coding	1/6	314/1452	293/1122	98/373			chr11	TogoVar
CCDC38_chr12_95862048_95947614	95906870	G G	GAGGGGGA others(11): Show GAGGGGGATTTGGCAGGGT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0277 a0001c0005t0002g0277	1	350	0.0029	18	c.305 others(33): Show c.305-437_305-420dupACCCTGCCAAATCCCCCT		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CCDC38_chr12_95862048_95947614	95908443	A A	AAGAGGGA others(11): Show AAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG04115.hp1 others(2): Show HG01168.hp1 HG01169.hp2 HG04115.hp1 NA18943.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0005t0001 a0001c0007t0001 a0001c0001t0002 a0001c0005t0001 a0001c0007t0001	a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0005t0001g0065 others(2): Show a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0005t0001g0065 a0001c0005t0001g0215 a0001c0007t0001g0101	5	350	0.0143	18	c.305 others(35): Show c.305-2010_305-1993dupCCCTCTCCCTCTCCCTCT		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15						chr12	TogoVar
CCDC38_chr12_95862048_95947614	95920900	G G	GGGTGGAT others(11): Show GGGTGGATAACCTGAGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(74): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01109.hp2 HG01496.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp1 HG02615.hp2 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18981.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0004 a0002c0012 a0002c0019 a0003c0006	a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 others(8): Show a0001c0001t0002 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0012t0002 a0002c0019t0002 a0003c0006t0002	a0001c0001t0002g0273 a0001c0001t0002g0305 a0001c0001t0002g0306 others(73): Show a0001c0001t0002g0273 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0329 a0001c0005t0001g0186 a0001c0005t0002g0276 a0001c0005t0002g0277 a0001c0005t0002g0278 a0001c0005t0002g0307 a0001c0005t0002g0308 a0001c0005t0002g0337 a0001c0007t0002g0332 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0002g0006 a0002c0003t0002g0271 a0002c0003t0002g0286 a0002c0003t0002g0287 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0298 a0002c0003t0002g0299 a0002c0003t0002g0300 a0002c0003t0002g0301 a0002c0003t0002g0302 a0002c0003t0002g0303 a0002c0003t0002g0304 a0002c0003t0002g0310 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0313 a0002c0003t0002g0314 a0002c0003t0002g0315 a0002c0003t0002g0316 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0002g0319 a0002c0003t0002g0320 a0002c0003t0002g0323 a0002c0003t0002g0324 a0002c0003t0002g0325 a0002c0003t0002g0326 a0002c0003t0002g0327 a0002c0003t0002g0328 a0002c0003t0002g0335 a0002c0003t0002g0336 a0002c0003t0002g0339 a0002c0003t0002g0340 a0002c0004t0002g0283 a0002c0004t0002g0290 a0002c0012t0002g0321 a0002c0012t0002g0322 a0002c0019t0002g0309 a0003c0006t0002g0285	77	350	0.2200	18	c.38- others(33): Show c.38-1942_38-1925dupGACCTCAGGTTATCCACC		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	2/15						chr12	TogoVar
CCDC38_chr12_95862048_95947614	95946576	G G	GCTCCCCC others(11): Show GCTCCCCCTCCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01361.hp2 HG01516.hp2 others(2): Show HG01081.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0198 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0005t0001g0203	5	350	0.0143	18	c.-41 others(29): Show c.-4178_-4161dupGGGGAGGGGGAGGGGGAG		CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding					3963		chr12	TogoVar
CCDC3_chr10_12891625_13006713	12951804	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	392	0.0026	18	c.549 others(37): Show c.549+46516_549+46533dupTTTTTTTTTTTTTTTTTT		CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2						chr10	TogoVar
CCDC3_chr10_12891625_13006713	12960168	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG06807.hp1 HG01243.hp2 HG01255.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0253 a0001c0001t0004g0021 a0001c0001t0006g0102 a0001c0001t0001g0253 a0001c0001t0004g0021 a0001c0001t0006g0102	3	392	0.0077	18	c.549 others(37): Show c.549+38152_549+38169dupGTGTGTGTGTGTGTGTGT		CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2						chr10	TogoVar
CCDC3_chr10_12891625_13006713	12968202	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 NA19067.hp1 HG00558.hp1 HG02071.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0356 a0001c0001t0004g0369 a0001c0001t0004g0043 a0001c0001t0004g0356 a0001c0001t0004g0369	3	392	0.0077	18	c.549 others(37): Show c.549+30118_549+30135dupGTGTGTGTGTGTGTGTGT		CCDC3	ENSG00000151468.11	transcript	ENST00000378825.5	protein_coding	2/2						chr10	TogoVar
CCDC40_chr17_80031642_80105613	80037686	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18982.hp2 HG01175.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0217 a0001c0002t0003g0218 a0001c0001t0001g0217 a0001c0002t0003g0218	2	378	0.0053	18	c.30- others(31): Show c.30-436_30-435insTATATATATATATATATA		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80037690	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG01258.hp1 others(13): Show HG01109.hp2 HG01256.hp1 HG01258.hp1 HG01978.hp1 HG01978.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02809.hp1 HG03490.hp1 HG03654.hp1 NA18941.hp1 NA18962.hp1 NA18971.hp2 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0015 a0019	a0001c0001 a0001c0004 a0002c0020 others(5): Show a0001c0001 a0001c0004 a0002c0020 a0003c0015 a0004c0010 a0005c0012 a0015c0030 a0019c0052	a0001c0001t0001 a0001c0004t0002 a0002c0020t0002 others(5): Show a0001c0001t0001 a0001c0004t0002 a0002c0020t0002 a0003c0015t0002 a0004c0010t0001 a0005c0012t0007 a0015c0030t0001 a0019c0052t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0004t0002g0345 a0002c0020t0002g0296 a0003c0015t0002g0295 a0004c0010t0001g0036 a0005c0012t0007g0028 a0015c0030t0001g0190 a0019c0052t0001g0035	16	378	0.0423	18	c.30- others(31): Show c.30-428_30-427insTATATATATATATATATA		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80046532	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02615.hp2 HG02922.hp2 others(3): Show HG01255.hp1 HG02615.hp2 HG02922.hp2 HG03195.hp1 HG03195.hp2 NA19240.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0021 a0002c0044 a0012c0028 a0001c0021 a0002c0044 a0012c0028	a0001c0021t0006 a0002c0044t0002 a0012c0028t0001 a0001c0021t0006 a0002c0044t0002 a0012c0028t0001	a0001c0021t0006g0289 a0001c0021t0006g0292 a0001c0021t0006g0303 others(3): Show a0001c0021t0006g0289 a0001c0021t0006g0292 a0001c0021t0006g0303 a0002c0044t0002g0297 a0012c0028t0001g0313 a0012c0028t0001g0314	6	378	0.0159	18	c.553 others(33): Show c.553-738_553-721dupTAATAATAATAATAATAA		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18992.hp2 HG03225.hp1 NA18992.hp2	a0001 a0034 a0001 a0034	a0001c0073 a0034c0070 a0001c0073 a0034c0070	a0001c0073t0002 a0034c0070t0001 a0001c0073t0002 a0034c0070t0001	a0001c0073t0002g0344 a0034c0070t0001g0209 a0001c0073t0002g0344 a0034c0070t0001g0209	2	378	0.0053	18	c.116 others(37): Show c.1160-2477_1160-2476insATATATATTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19058.hp2 HG02056.hp1 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0268 a0001c0002t0003g0271 a0001c0002t0003g0268 a0001c0002t0003g0271	2	378	0.0053	18	c.116 others(37): Show c.1160-2477_1160-2476insATATATTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0055 a0001c0002t0005g0055	1	378	0.0027	18	c.116 others(37): Show c.1160-2477_1160-2476insATATTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18999.hp1 HG00597.hp2 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0252 a0001c0002t0005g0064 a0001c0002t0003g0252 a0001c0002t0005g0064	2	378	0.0053	18	c.116 others(37): Show c.1160-2477_1160-2476insATTTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02165.hp2 HG00544.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0014 a0001c0002t0005g0066 a0001c0001t0001g0014 a0001c0002t0005g0066	2	378	0.0053	18	c.116 others(37): Show c.1160-2463_1160-2462insTTTTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80061856	T T	TCCCTAAC others(11): Show TCCCTAACCCTAACCCTAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02976.hp1 others(2): Show HG01891.hp1 HG02622.hp2 HG02976.hp1 HG03225.hp2 NA20300.hp1	a0001 a0016 a0030 others(1): Show a0001 a0016 a0030 a0033	a0001c0011 a0016c0036 a0030c0068 others(1): Show a0001c0011 a0016c0036 a0030c0068 a0033c0069	a0001c0011t0001 a0016c0036t0002 a0030c0068t0001 others(1): Show a0001c0011t0001 a0016c0036t0002 a0030c0068t0001 a0033c0069t0002	a0001c0011t0001g0213 a0016c0036t0002g0222 a0016c0036t0002g0231 others(2): Show a0001c0011t0001g0213 a0016c0036t0002g0222 a0016c0036t0002g0231 a0030c0068t0001g0214 a0033c0069t0002g0232	5	378	0.0132	18	c.144 others(37): Show c.1440+2880_1440+2897dupTAACCCTAACCCTAACCC		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	352	0.0028	18	c.137 others(35): Show c.1371+557_1371+574dupTTTTTTTTTTTTTTTTTT		CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82119088	A A	AGGTGGGG others(11): Show AGGTGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0001 a0021c0026t0001	a0021c0026t0001g0028 a0021c0026t0001g0028	1	252	0.0040	18	c.289 others(37): Show c.2899+8603_2899+8604insCCCACCCCCACCCCCACC		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	18/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82150229	A A	ACACTCAG others(11): Show ACACTCAGAACCTGACCCG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	252	0.0040	18	c.245 others(37): Show c.2455+1330_2455+1331insCGGGTCAGGTTCTGAGTG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82150928	C C	CGCACACC others(11): Show CGCACACCCAGAACCTGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00642.hp2 others(66): Show HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18943.hp1 NA18962.hp2 NA18975.hp1 NA18982.hp1 NA18990.hp1 NA19004.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0011 others(4): Show a0002 a0003 a0011 a0017 a0019 a0020 a0024	a0002c0002 a0003c0004 a0011c0015 others(4): Show a0002c0002 a0003c0004 a0011c0015 a0017c0025 a0019c0022 a0020c0028 a0024c0018	a0002c0002t0001 a0002c0002t0006 a0003c0004t0003 others(5): Show a0002c0002t0001 a0002c0002t0006 a0003c0004t0003 a0011c0015t0001 a0017c0025t0001 a0019c0022t0001 a0020c0028t0003 a0024c0018t0003	a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0205 others(66): Show a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0006g0244 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0199 a0011c0015t0001g0218 a0011c0015t0001g0223 a0017c0025t0001g0226 a0019c0022t0001g0243 a0020c0028t0003g0098 a0024c0018t0003g0009	69	252	0.2738	18	c.245 others(35): Show c.2455+631_2455+632insACCAGGTTCTGGGTGTGC		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82151235	A A	ACACACCC others(11): Show ACACACCCAGAACCTGACC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00642.hp2 others(70): Show HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18941.hp1 NA18943.hp1 NA18962.hp2 NA18975.hp1 NA18982.hp1 NA18990.hp1 NA19004.hp1 NA19011.hp2 NA19056.hp1 NA19064.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0011 others(5): Show a0002 a0003 a0011 a0013 a0017 a0019 a0020 a0024	a0002c0002 a0003c0004 a0011c0015 others(5): Show a0002c0002 a0003c0004 a0011c0015 a0013c0014 a0017c0025 a0019c0022 a0020c0028 a0024c0018	a0002c0002t0001 a0002c0002t0006 a0003c0004t0003 others(6): Show a0002c0002t0001 a0002c0002t0006 a0003c0004t0003 a0011c0015t0001 a0013c0014t0001 a0017c0025t0001 a0019c0022t0001 a0020c0028t0003 a0024c0018t0003	a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0205 others(70): Show a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0006g0244 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0199 a0011c0015t0001g0218 a0011c0015t0001g0223 a0013c0014t0001g0019 a0013c0014t0001g0020 a0017c0025t0001g0226 a0019c0022t0001g0243 a0020c0028t0003g0098 a0024c0018t0003g0009	73	252	0.2897	18	c.245 others(35): Show c.2455+324_2455+325insGGTCAGGTTCTGGGTGTG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	15/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184027	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	252	0.0040	18	c.105 others(33): Show c.1053-96_1053-95insTGTGTGTGTGTGTGTGTG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184029	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	252	0.0040	18	c.105 others(33): Show c.1053-98_1053-97insTGTGTGTGTGTGTGTGTG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0106 a0010c0016t0001g0106	1	252	0.0040	18	c.105 others(34): Show c.1053-100_1053-99insTGTGTGTGTGTGTGTGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp1 HG00621.hp1 NA18941.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0015 a0002c0002 a0011c0015	a0002c0002t0001 a0011c0015t0001 a0002c0002t0001 a0011c0015t0001	a0002c0002t0001g0210 a0011c0015t0001g0223 a0002c0002t0001g0210 a0011c0015t0001g0223	2	252	0.0079	18	c.105 others(34): Show c.1053-100_1053-99insTGTGTGTGTGTGTGCGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19011.hp2 NA18975.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0241 a0002c0002t0001g0220 a0002c0002t0001g0241	2	252	0.0079	18	c.105 others(34): Show c.1053-100_1053-99insTGTGTGTGTGTGCGCGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	252	0.0040	18	c.105 others(34): Show c.1053-100_1053-99insTGTGTGTGTGCGCGCGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82199477	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0177 a0004c0007t0002g0177	1	252	0.0040	18	c.408 others(35): Show c.408-1056_408-1055insTTTTTTTTTTTTTTTTTT		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	2/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82212741	C C	CCCCACGC others(11): Show CCCCACGCCTCCCACGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp2 others(96): Show HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02004.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18959.hp1 NA18964.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19070.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0015 a0016 a0020 a0021 a0024 a0025	a0001c0001 a0001c0027 a0002c0003 others(18): Show a0001c0001 a0001c0027 a0002c0003 a0002c0006 a0002c0009 a0003c0004 a0004c0007 a0005c0008 a0006c0010 a0007c0011 a0008c0013 a0009c0012 a0012c0017 a0013c0014 a0014c0020 a0015c0030 a0016c0032 a0020c0028 a0021c0026 a0024c0018 a0025c0019	a0001c0001t0001 a0001c0027t0001 a0002c0003t0001 others(20): Show a0001c0001t0001 a0001c0027t0001 a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0009t0002 a0002c0009t0005 a0003c0004t0003 a0004c0007t0002 a0005c0008t0001 a0006c0010t0001 a0007c0011t0002 a0008c0013t0002 a0009c0012t0001 a0012c0017t0001 a0013c0014t0001 a0014c0020t0002 a0015c0030t0001 a0016c0032t0002 a0020c0028t0003 a0021c0026t0001 a0024c0018t0003 a0025c0019t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(95): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0027t0001g0072 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0002g0001 a0002c0003t0002g0033 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0050 a0002c0003t0002g0052 a0002c0003t0002g0055 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0006t0002g0032 a0002c0006t0002g0041 a0002c0006t0002g0047 a0002c0006t0002g0048 a0002c0006t0002g0049 a0002c0006t0002g0051 a0002c0006t0002g0053 a0002c0006t0002g0060 a0002c0009t0002g0023 a0002c0009t0002g0025 a0002c0009t0002g0026 a0002c0009t0002g0027 a0002c0009t0005g0024 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0082 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0089 a0003c0004t0003g0090 a0003c0004t0003g0091 a0003c0004t0003g0092 a0003c0004t0003g0093 a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0004c0007t0002g0069 a0005c0008t0001g0064 a0005c0008t0001g0065 a0005c0008t0001g0066 a0005c0008t0001g0067 a0005c0008t0001g0068 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014 a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018 a0008c0013t0002g0056 a0008c0013t0002g0057 a0008c0013t0002g0058 a0009c0012t0001g0029 a0009c0012t0001g0030 a0009c0012t0001g0031 a0012c0017t0001g0021 a0012c0017t0001g0022 a0013c0014t0001g0019 a0013c0014t0001g0020 a0014c0020t0002g0063 a0015c0030t0001g0002 a0016c0032t0002g0054 a0020c0028t0003g0098 a0021c0026t0001g0028 a0024c0018t0003g0009 a0025c0019t0001g0008	99	252	0.3929	18	c.-9+ others(29): Show c.-9+26_-9+43dupAGGCGTGGGAGGCGTGGG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	1/18						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82212762	C C	CACGCCTC others(11): Show CACGCCTCCCACGCCTCCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0199 a0003c0004t0003g0199	1	252	0.0040	18	c.-9+ others(29): Show c.-9+22_-9+23insTGGAGGCGTGGGAGGCGT		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	1/18						chr17	TogoVar
CCDC60_chr12_119329729_119546040	119331595	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	256	0.0039	18	c.-35 others(29): Show c.-3582_-3581insGTGTGTGTGTGTGTGAGA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding					3133		chr12	TogoVar
CCDC60_chr12_119329729_119546040	119363423	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02145.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0249 a0001c0001t0001g0174 a0001c0001t0001g0249	2	256	0.0078	18	c.90+ others(35): Show c.90+28163_90+28180dupGTGTGTGTGTGTGTGTGT		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119387034	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	256	0.0039	18	c.91- others(35): Show c.91-41648_91-41647insTCACACACACACACACAC		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119456001	G G	GAAAGAGA others(11): Show GAAAGAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	256	0.0039	18	c.171 others(37): Show c.171-15992_171-15991insAAGAGAAAGAAAAAGAAA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar

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