Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGAGGCGGGGCGAGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCTCGCCCCGCCTCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGAGGCGGGGCGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0094 a0001c0001t0007g0094	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCCCGCCCCGCCTCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGGGGCGGGGCGGGGCGAGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18956.hp2 NA18948.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	2	442	0.0045	30	c.-37 others(39): Show c.-370_-369insCCGCCTCGCCCCGCCCCGCCCCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC122_chr13_43831352_43884740	43879800	A A	AGGCGGGG others(23): Show AGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	442	0.0023	30	c.-37 others(39): Show c.-370_-369insCCGCCCCGCCCCGCCCCGCCCCGCCCCGCC	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding		61		chr13	TogoVar
CCDC125_chr5_69275175_69337801	69334793	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0077 a0002c0002t0008g0077	1	341	0.0029	30	c.-21 others(41): Show c.-2186_-2185insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding		1993		chr5	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19005.hp2 NA19056.hp2 NA18945.hp1 NA19005.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0236 a0001c0001t0002g0006 a0001c0001t0002g0236	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATTTTTTTTTTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp2 NA18965.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0275 a0001c0001t0002g0250 a0001c0001t0002g0275	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATTTTTTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18999.hp2 HG02280.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0206 a0001c0001t0002g0037 a0001c0001t0002g0206	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19066.hp1 NA19085.hp1 HG04228.hp2 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0002g0190 a0001c0001t0002g0283 a0001c0001t0001g0077 a0001c0001t0002g0190 a0001c0001t0002g0283	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATTTTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18947.hp2 NA18977.hp1 HG02083.hp1 NA18947.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0103 a0001c0001t0002g0026 a0001c0001t0002g0188 a0001c0001t0001g0103 a0001c0001t0002g0026 a0001c0001t0002g0188	3	354	0.0085	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATTTTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19056.hp1 NA18949.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0164 a0001c0001t0002g0178	2	354	0.0057	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	354	0.0028	30	c.97- others(47): Show c.97-10734_97-10733insATATATATATATATATATATATATTTTT TT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC134_chr22_41795679_41837164	41833037	G G	GGGGGGCG others(23): Show GGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0108 a0001c0001t0031g0202 a0001c0001t0031g0108 a0001c0001t0031g0202	2	380	0.0053	30	c.72 others(41): Show c.7214_*7215insGGGGGCGCGCGGCCTGGAGGCGGGGCCGCA	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding		874		chr22	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(23): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18993.hp2 NA18998.hp1 others(1): Show NA18977.hp2 NA18993.hp2 NA18998.hp1 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0141 a0003c0003t0001g0158 a0003c0003t0001g0002 a0003c0003t0001g0141 a0003c0003t0001g0158	4	220	0.0182	30	c.856 others(47): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC13_chr3_42700756_42778253	42743587	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01978.hp1 HG01981.hp1 others(2): Show HG01358.hp1 HG01978.hp1 HG01981.hp1 HG02273.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0015 a0003c0003t0040 a0003c0003t0003 a0003c0003t0015 a0003c0003t0040	a0003c0003t0003g0040 a0003c0003t0003g0053 a0003c0003t0003g0057 others(2): Show a0003c0003t0003g0040 a0003c0003t0003g0053 a0003c0003t0003g0057 a0003c0003t0015g0290 a0003c0003t0040g0238	5	320	0.0156	30	c.826 others(45): Show c.826-531_826-530insTATATATATATATATATATATATATATATA	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(23): Show TATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp2 HG02897.hp1 others(1): Show HG02559.hp1 HG02896.hp2 HG02897.hp1 HG03209.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0012 a0006c0009t0012	a0006c0009t0012g0009 a0006c0009t0012g0090 a0006c0009t0012g0091 a0006c0009t0012g0009 a0006c0009t0012g0090 a0006c0009t0012g0091	4	320	0.0125	30	c.826 others(45): Show c.826-544_826-543insGTATATATATATATATATATGTATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC144A_chr17_16685241_16782881	16729963	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0309 a0002c0002t0004g0309	1	318	0.0031	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATATATA TATA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02004.hp2 HG02818.hp1 others(1): Show HG01069.hp2 HG02004.hp2 HG02818.hp1 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0030 a0001c0004t0005 a0001c0004t0030	a0001c0004t0005g0284 a0001c0004t0005g0286 a0001c0004t0005g0300 others(1): Show a0001c0004t0005g0284 a0001c0004t0005g0286 a0001c0004t0005g0300 a0001c0004t0030g0287	4	318	0.0126	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATACACA CACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0230	1	318	0.0031	30	c.210 others(49): Show c.2106-1808_2106-1807insTATATATATATATATATATATATATA TACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158387288	T T	TTATCTAT others(23): Show TTATCTATATCTATATCTATATCTATATCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0264 a0002c0002t0002g0264	1	264	0.0038	30	c.26- others(47): Show c.26-28748_26-28719dupTAGATATAGATATAGATATAGATATAGA TA	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433089	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	264	0.0038	30	c.25+ others(47): Show c.25+23325_25+23326insATATATATATATATATATATATATATAT AT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	264	0.0038	30	c.25+ others(47): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT AT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTTATTTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp1 HG03710.hp1 others(14): Show HG02109.hp1 HG02698.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18964.hp2 NA18969.hp1 NA18983.hp1 NA18993.hp1 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19063.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0024 a0001c0001t0049	a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0001g0212 others(14): Show a0001c0001t0001g0141 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0009g0301 a0001c0001t0024g0215 a0001c0001t0049g0214	17	354	0.0480	30	c.48+ others(45): Show c.48+6452_48+6453insAAAATAAATAAAATAAAAATAAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00733.hp1 others(41): Show HG00597.hp2 HG00609.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18983.hp2 NA18993.hp2 NA19001.hp2 NA19056.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19086.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0012 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0045 a0001c0001t0053 a0001c0001t0059 a0001c0003t0017 a0001c0003t0019 a0001c0003t0044 a0001c0003t0047 a0001c0003t0048 a0001c0003t0061 a0001c0009t0011 a0001c0012t0073 a0006c0008t0002	a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 others(39): Show a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0002g0238 a0001c0001t0005g0004 a0001c0001t0005g0240 a0001c0001t0005g0250 a0001c0001t0008g0003 a0001c0001t0008g0245 a0001c0001t0008g0252 a0001c0001t0008g0258 a0001c0001t0008g0260 a0001c0001t0010g0242 a0001c0001t0011g0235 a0001c0001t0011g0244 a0001c0001t0011g0255 a0001c0001t0015g0312 a0001c0001t0015g0313 a0001c0001t0015g0314 a0001c0001t0015g0315 a0001c0001t0024g0254 a0001c0001t0037g0307 a0001c0001t0037g0308 a0001c0001t0041g0251 a0001c0001t0042g0243 a0001c0001t0045g0259 a0001c0001t0053g0248 a0001c0001t0059g0236 a0001c0003t0017g0256 a0001c0003t0019g0126 a0001c0003t0019g0128 a0001c0003t0019g0129 a0001c0003t0044g0131 a0001c0003t0047g0127 a0001c0003t0048g0130 a0001c0003t0061g0246 a0001c0009t0011g0241 a0001c0012t0073g0309 a0006c0008t0002g0239	44	354	0.1243	30	c.48+ others(45): Show c.48+6452_48+6453insAAATAAAATAAAATAAAAATAAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC149_chr4_24798514_24918042	24906400	A A	ATTTTATT others(23): Show ATTTTATTTTATTTTATTTTATTTTATTTTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0318 a0001c0001t0025g0318	1	354	0.0028	30	c.48+ others(45): Show c.48+6416_48+6417insCAAAATAAAATAAAATAAAATAAAATAAAA	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar
CCDC14_chr3_123908422_123966229	123934270	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02559.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	2	368	0.0054	30	c.134 others(47): Show c.1344-516_1344-515insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	9/12			chr3	TogoVar
CCDC152_chr5_42751818_42807439	42754945	A A	AATATATA others(23): Show AATATATACATATACATATATATGTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02809.hp2 others(5): Show HG01884.hp2 HG02451.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0006	a0001c0001t0003g0011 a0002c0002t0006g0021 a0002c0002t0006g0062 others(4): Show a0001c0001t0003g0011 a0002c0002t0006g0021 a0002c0002t0006g0062 a0002c0002t0006g0063 a0002c0002t0006g0064 a0002c0002t0006g0065 a0002c0002t0006g0066	8	348	0.0230	30	c.-19 others(41): Show c.-1943_-1942insATATATACATATACATATATATGTGTATAT	CCDC152	ENSG00000198865.10	transcript	ENST00000361970.10	protein_coding		1872		chr5	TogoVar
CCDC15_chr11_124949202_125046489	125025039	C C	CATATGAA others(23): Show CATATGAATATATATGAATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02717.hp1 others(1): Show HG02451.hp1 HG02615.hp1 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0004 a0001c0001t0004 a0001c0011t0004	a0001c0001t0004g0030 a0001c0001t0004g0254 a0001c0011t0004g0253 a0001c0001t0004g0030 a0001c0001t0004g0254 a0001c0011t0004g0253	4	350	0.0114	30	c.241 others(51): Show c.2412-13357_2412-13328dupGAATATATATGAATATATATATGA ATATAT	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC166_chr8_143701694_143713109	143711693	C C	CGGGCCAG others(23): Show CGGGCCAGCCTCCCTCCTCCCCACCACAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG02109.hp2 others(5): Show HG01175.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02559.hp1 HG03139.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	8	423	0.0189	30	c.-36 others(41): Show c.-3614_-3585dupAGCTGTGGTGGGGAGGAGGGAGGCTGGCCC	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3585		chr8	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCACGCGC others(23): Show GCACGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	266	0.0038	30	c.822 others(43): Show c.822+65_822+66insGCGCGCGCGCGCACACACACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18946.hp1 NA18522.hp2 NA18946.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0002 a0006c0006t0003 a0002c0002t0002 a0006c0006t0003	a0002c0002t0002g0135 a0006c0006t0003g0034 a0002c0002t0002g0135 a0006c0006t0003g0034	2	266	0.0075	30	c.822 others(43): Show c.822+63_822+64insGCGCGCGCGCGCGCACACACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	266	0.0038	30	c.822 others(43): Show c.822+63_822+64insGCGCGCGCGCGCGCGCACACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCGCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	266	0.0038	30	c.822 others(43): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCACACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15623475	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	266	0.0038	30	c.822 others(43): Show c.822+63_822+64insGCGCGCGCGCGCGCGCGCGCACACACACAC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15664567	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02922.hp1 others(1): Show HG02630.hp1 HG02723.hp1 HG02922.hp1 HG03471.hp2	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0003 a0005c0005 a0006c0006 a0003c0003 a0005c0005 a0006c0006	a0003c0003t0004 a0003c0003t0006 a0005c0005t0017 others(1): Show a0003c0003t0004 a0003c0003t0006 a0005c0005t0017 a0006c0006t0003	a0003c0003t0004g0146 a0003c0003t0006g0258 a0005c0005t0017g0001 others(1): Show a0003c0003t0004g0146 a0003c0003t0006g0258 a0005c0005t0017g0001 a0006c0006t0003g0028	4	266	0.0150	30	c.916 others(47): Show c.916-1574_916-1573insACACACACACACACACACACACACACAC AC	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15958515	G G	GGTATTAT others(23): Show GGTATTATATTATATTATATTATATTATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	266	0.0038	30	c.375 others(51): Show c.3754-13093_3754-13064dupGTATTATATTATATTATATTATAT TATATT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC175_chr14_59500067_59581812	59502754	T T	TTGTTTTG others(23): Show TTGTTTTGTTTTGTTTTGTTTTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01243.hp1 others(24): Show HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG04115.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0022 a0003c0003 others(1): Show a0001c0001 a0001c0022 a0003c0003 a0003c0005	a0001c0001t0001 a0001c0022t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0022t0001 a0003c0003t0001 a0003c0005t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0229 others(22): Show a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0229 a0001c0022t0001g0269 a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0157 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0230 a0003c0005t0001g0272 a0003c0005t0001g0273 a0003c0005t0001g0274 a0003c0005t0001g0276	27	294	0.0918	30	c.24 others(41): Show c.2484_*2485insCAAAACAAAAAAACAAAACAAAACAAAACA	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding		2312		chr14	TogoVar
CCDC175_chr14_59500067_59581812	59508399	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18982.hp2 NA19055.hp1 HG00741.hp2 NA18982.hp2 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0213 a0002c0002t0001g0237 a0002c0002t0001g0170 a0002c0002t0001g0213 a0002c0002t0001g0237	3	294	0.0102	30	c.230 others(49): Show c.2305+2217_2305+2246dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	CCDC175	ENSG00000151838.12	transcript	ENST00000537690.7	protein_coding	19/19			chr14	TogoVar
CCDC178_chr18_32932406_33445721	33218548	T T	TTGCCTAG others(23): Show TTGCCTAGGTTTTTTTCTAGGGTTTTTATGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	58	0.0172	30	c.193 others(49): Show c.1933-2883_1933-2854dupCCATAAAAACCCTAGAAAAAAACCTA GGCA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	18/22			chr18	TogoVar
CCDC186_chr10_114115862_114179203	114149559	A A	AAAGGAAA others(23): Show AAAGGAAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	278	0.0036	30	c.888 others(47): Show c.888+1503_888+1532dupCCCTTCCCTTCCCTTCCCTTCCCTTTCC TT	CCDC186	ENSG00000165813.20	transcript	ENST00000369287.8	protein_coding	4/15			chr10	TogoVar
CCDC18_chr1_93175724_93283730	93282462	C C	CATATATG others(23): Show CATATATGTATATATAAAATACATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG01891.hp2 others(30): Show HG01109.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 NA18906.hp2 NA18952.hp2 NA18967.hp1 NA18968.hp2 NA18977.hp2 NA18998.hp2 NA19054.hp2 NA19063.hp2 NA19089.hp2 NA19240.hp1	a0004 a0014 a0004 a0014	a0004c0004 a0004c0005 a0004c0007 others(2): Show a0004c0004 a0004c0005 a0004c0007 a0004c0012 a0014c0011	a0004c0004t0001 a0004c0005t0001 a0004c0005t0005 others(3): Show a0004c0004t0001 a0004c0005t0001 a0004c0005t0005 a0004c0007t0001 a0004c0012t0001 a0014c0011t0001	a0004c0004t0001g0265 a0004c0004t0001g0271 a0004c0004t0001g0272 others(30): Show a0004c0004t0001g0265 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0273 a0004c0004t0001g0275 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0278 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0291 a0004c0004t0001g0292 a0004c0004t0001g0293 a0004c0004t0001g0294 a0004c0004t0001g0296 a0004c0005t0001g0267 a0004c0005t0001g0268 a0004c0005t0001g0269 a0004c0005t0001g0270 a0004c0005t0001g0274 a0004c0005t0005g0213 a0004c0007t0001g0266 a0004c0007t0001g0283 a0004c0007t0001g0295 a0004c0012t0001g0297 a0014c0011t0001g0279	33	316	0.1044	30	c.39 others(41): Show c.3985_*3986insATATATGTATATATAAAATACATATATATA	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding		3733		chr1	TogoVar
CCDC191_chr3_113959137_114061526	114006587	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0338 a0001c0003t0001g0338	1	380	0.0026	30	c.141 others(47): Show c.1414-655_1414-626dupATATATATATATATATATATATATATAT AT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	9/16			chr3	TogoVar
CCDC192_chr5_127698391_127946507	127763069	C C	CGTAGTGA others(23): Show CGTAGTGAGGACTTAAGGCTTTTCAGCAGAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03516.hp1 HG02922.hp2 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092	3	234	0.0128	30	c.222 others(47): Show c.222+8694_222+8695insGTAGTGAGGACTTAAGGCTTTTCAGCAG AT	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	3/6			chr5	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19009.hp1 HG02148.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0190 a0001c0001t0001g0067 a0001c0001t0001g0190	2	234	0.0086	30	c.535 others(47): Show c.535+8708_535+8709insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127921087	A A	AGAAAGGA others(23): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	234	0.0043	30	c.536 others(49): Show c.536-20068_536-20067insAAGGAAAGGAAAGGAAAGGAAAGGAA AGGA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC192_chr5_127698391_127946507	127921100	A A	AAGGAAAG others(23): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	234	0.0043	30	c.536 others(49): Show c.536-20068_536-20067insAAGGAAAGGAAAGGAGAGGAAAGGAA AGGA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01258.hp2 HG01346.hp1 others(5): Show HG01109.hp2 HG01258.hp2 HG01346.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02602.hp2 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0058 a0002c0002t0009 others(1): Show a0001c0001t0001 a0001c0001t0058 a0002c0002t0009 a0002c0002t0014	a0001c0001t0001g0001 a0001c0001t0058g0115 a0002c0002t0009g0072 others(1): Show a0001c0001t0001g0001 a0001c0001t0058g0115 a0002c0002t0009g0072 a0002c0002t0014g0059	8	414	0.0193	30	c.82 others(41): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding		4919		chr19	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	30	c.-23 others(41): Show c.-2327_-2326insAAAAAAATATATATATATATATATATATAT	CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding		2194		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43223459	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01433.hp2 HG02027.hp2 others(6): Show HG00544.hp1 HG01433.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG03139.hp1 NA18983.hp2 NA19005.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0018 a0001c0002t0001g0080 a0001c0002t0001g0100 others(5): Show a0001c0002t0001g0018 a0001c0002t0001g0080 a0001c0002t0001g0100 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0156 a0003c0005t0001g0166	9	334	0.0270	30	c.480 others(43): Show c.480+96_480+97insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	3/3			chr17	TogoVar
CCDC200_chr17_43216420_43233623	43225693	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	334	0.0030	30	c.106 others(47): Show c.106-1145_106-1144insTTTTATATATATATATATATATATATAT AT	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3			chr17	TogoVar

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