Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	294	0.0034	25	c.253 others(42): Show c.253+3142_253+3143insAAAAAAATATATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN1_chr1_9723926_9828965	9776862	T T	TTATCTAT others(18): Show TTATCTATCATCTATCAGCATTTATC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02622.hp2 others(5): Show HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0110 a0001c0003t0004g0113 a0001c0003t0004g0116 others(5): Show a0001c0003t0004g0110 a0001c0003t0004g0113 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0004g0119 a0001c0003t0004g0120 a0001c0003t0004g0121 a0001c0003t0004g0122	8	65	0.1231	25	c.92- others(40): Show c.92-3469_92-3468insGATAAATGCTGATAGATGATAGATA	CLSTN1	ENSG00000171603.18	transcript	ENST00000377298.9	protein_coding	1/18			chr1	TogoVar
CLSTN2_chr3_139930185_140582397	140171791	A A	AATATATA others(18): Show AATATATATAATATGTATTATATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG03688.hp2 HG02257.hp1 HG02615.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0043 a0002c0002t0011 a0002c0010t0023 a0001c0001t0043 a0002c0002t0011 a0002c0010t0023	a0001c0001t0043g0064 a0002c0002t0011g0103 a0002c0010t0023g0079 a0001c0001t0043g0064 a0002c0002t0011g0103 a0002c0010t0023g0079	3	69	0.0435	25	c.110 others(42): Show c.110-4153_110-4152insTAATATGTATTATATAATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140251584	G G	GTTCCTTT others(18): Show GTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp2 HG02572.hp1 others(9): Show HG01433.hp2 HG02145.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03516.hp1 HG06807.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0005 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0004 a0001c0008t0009 a0002c0002t0002 a0002c0002t0033 a0002c0002t0044 a0002c0005t0004 a0003c0011t0002	a0001c0001t0001g0056 a0001c0001t0002g0107 a0001c0001t0005g0026 others(9): Show a0001c0001t0001g0056 a0001c0001t0002g0107 a0001c0001t0005g0026 a0001c0006t0004g0098 a0001c0008t0009g0100 a0002c0002t0002g0054 a0002c0002t0002g0086 a0002c0002t0033g0008 a0002c0002t0044g0096 a0002c0005t0004g0038 a0002c0005t0004g0077 a0003c0011t0002g0087	12	28	0.4286	25	c.232 others(44): Show c.232+75542_232+75566dupTTCCTTTCCTTTCCTTTCCTTTCCT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140501400	C C	CTAGATGC others(18): Show CTAGATGCAGGAAGGAGGGGCACCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0023 a0001c0009 a0002c0023	a0001c0009t0018 a0002c0023t0010 a0001c0009t0018 a0002c0023t0010	a0001c0009t0018g0018 a0002c0023t0010g0104 a0001c0009t0018g0018 a0002c0023t0010g0104	2	110	0.0182	25	c.134 others(46): Show c.1345-30922_1345-30898dupAGATGCAGGAAGGAGGGGCACCCT T	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19212575	A A	AAGAAGAG others(18): Show AAGAAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01106.hp2 others(16): Show HG00733.hp2 HG00735.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02559.hp1 HG03471.hp1 NA18951.hp2 NA18955.hp1 NA18970.hp1 NA18985.hp2 NA18989.hp1 NA19056.hp1 NA19088.hp2 NA20752.hp1	a0004 a0008 a0020 a0004 a0008 a0020	a0004c0006 a0008c0010 a0020c0030 a0004c0006 a0008c0010 a0020c0030	a0004c0006t0003 a0008c0010t0003 a0020c0030t0003 a0004c0006t0003 a0008c0010t0003 a0020c0030t0003	a0004c0006t0003g0101 a0004c0006t0003g0102 a0004c0006t0003g0103 others(16): Show a0004c0006t0003g0101 a0004c0006t0003g0102 a0004c0006t0003g0103 a0004c0006t0003g0104 a0004c0006t0003g0105 a0004c0006t0003g0106 a0004c0006t0003g0107 a0004c0006t0003g0108 a0004c0006t0003g0109 a0004c0006t0003g0110 a0004c0006t0003g0111 a0004c0006t0003g0112 a0004c0006t0003g0113 a0004c0006t0003g0114 a0008c0010t0003g0097 a0008c0010t0003g0098 a0008c0010t0003g0099 a0008c0010t0003g0100 a0020c0030t0003g0087	19	329	0.0578	25	c.306 others(44): Show c.3066-2067_3066-2066insCTTTCTTTCTTTCTTTCTCTCTTCT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	19/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19266104	A A	AACTTCTG others(18): Show AACTTCTGGTCCCAAGTGATCCTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00597.hp2 others(33): Show HG00140.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01952.hp2 HG02148.hp2 HG02165.hp1 HG02735.hp1 HG03491.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18943.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18968.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp2	a0001 a0009 a0012 others(1): Show a0001 a0009 a0012 a0022	a0001c0003 a0001c0026 a0009c0012 others(2): Show a0001c0003 a0001c0026 a0009c0012 a0012c0011 a0022c0024	a0001c0003t0001 a0001c0026t0001 a0009c0012t0001 others(2): Show a0001c0003t0001 a0001c0026t0001 a0009c0012t0001 a0012c0011t0001 a0022c0024t0001	a0001c0003t0001g0004 a0001c0003t0001g0089 a0001c0003t0001g0116 others(32): Show a0001c0003t0001g0004 a0001c0003t0001g0089 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0147 a0001c0003t0001g0312 a0001c0026t0001g0125 a0009c0012t0001g0146 a0012c0011t0001g0124 a0012c0011t0001g0138 a0022c0024t0001g0129	36	344	0.1047	25	c.250 others(42): Show c.250+9494_250+9518dupGACAGGATCACTTGGGACCAGAAGT	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	2/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19291846	G G	GCCCCCGC others(18): Show GCCCCCGCCCCTGCCCCCGCCGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG03195.hp1 HG02615.hp2 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0222 a0001c0003t0001g0163 a0001c0003t0001g0300 a0001c0002t0001g0222 a0001c0003t0001g0163 a0001c0003t0001g0300	3	309	0.0097	25	c.-20 others(34): Show c.-206_-205insGCAGCGGCGGGGGCAGGGGCGGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		128		chr22	TogoVar
CLUAP1_chr16_3496004_3544048	3529451	T T	TTATATAT others(18): Show TTATATATAATATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01167.hp1 others(7): Show HG00438.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02735.hp1 HG03654.hp2 HG03927.hp1 HG04228.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0002t0002 a0002c0010t0002	a0002c0002t0002g0013 a0002c0002t0002g0032 a0002c0002t0002g0270 others(5): Show a0002c0002t0002g0013 a0002c0002t0002g0032 a0002c0002t0002g0270 a0002c0002t0002g0284 a0002c0002t0002g0286 a0002c0002t0002g0292 a0002c0002t0002g0296 a0002c0010t0002g0282	10	374	0.0267	25	c.929 others(42): Show c.929-1114_929-1113insATATAATATATATTATATTATATAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAAAAG others(18): Show GAGAAAAGAAGAAAGAGAAACAAAGA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	133	0.0075	25	c.424 others(38): Show c.424-73_424-72insGAAAAGAAGAAAGAGAAACAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAAAAG others(18): Show GAGAAAAGAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02717.hp1 NA19070.hp1 others(1): Show HG01981.hp2 HG02717.hp1 NA19070.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0002g0137	4	136	0.0294	25	c.424 others(38): Show c.424-73_424-72insGAAAAGAAGAAAGAGAAAGAAAGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLU_chr8_27591917_27619700	27593372	A A	AGTTACGT others(18): Show AGTTACGTTACGTTACGTTACGTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18941.hp1 NA18970.hp2 HG02071.hp1 NA18941.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0036 a0001c0001t0002g0092 a0001c0001t0006g0011 a0001c0001t0002g0036 a0001c0001t0002g0092 a0001c0001t0006g0011	3	50	0.0600	25	c.48 others(36): Show c.4868_*4869insGTAACGTAACGTAACGTAACGTAAC	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3544		chr8	TogoVar
CLU_chr8_27591917_27619700	27593398	G G	GTTACGTT others(18): Show GTTACGTTACGTTACGTTACGTTACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	454	0.0022	25	c.48 others(36): Show c.4842_*4843insGGTAACGTAACGTAACGTAACGTAA	CLU	ENSG00000120885.22	transcript	ENST00000316403.15	protein_coding		3518		chr8	TogoVar
CLVS1_chr8_61282970_61506629	61357494	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	39	0.0256	25	c.456 others(44): Show c.456-19107_456-19083dupTTTTTTTTTTTTTTTTTTTTTTTTT	CLVS1	ENSG00000177182.11	transcript	ENST00000325897.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CLVS2_chr6_122991235_123077925	123002586	T T	TAATAAAA others(18): Show TAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01975.hp1 HG00741.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0194 a0001c0001t0002g0195	2	58	0.0345	25	c.389 others(42): Show c.389+4429_389+4453dupAAAATAAAATAAAATAAAATAAAAT	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18990.hp2 HG00741.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0195 a0001c0001t0012g0056 a0001c0001t0002g0195 a0001c0001t0012g0056	2	158	0.0127	25	c.565 others(42): Show c.565-7840_565-7816dupAAGAAAAGAAAAGAAAAGAAAAGAA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLVS2_chr6_122991235_123077925	123048026	T T	TCCTTAAG others(18): Show TCCTTAAGTTTCTTACAGTACAACTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	334	0.0030	25	c.565 others(40): Show c.565-595_565-571dupCCTTAAGTTTCTTACAGTACAACTC	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CLYBL_chr13_99601690_99897570	99797560	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	34	0.0294	25	c.249 others(44): Show c.249+24550_249+24551insGTGTGTGTGTGTGTGTGTGTGTGTG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99797591	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0082 a0004c0004t0001g0082	1	216	0.0046	25	c.249 others(44): Show c.249+24581_249+24582insGTGTGTGTGTGTGTGTGTGTGTGTG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833030	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	168	0.0060	25	c.250 others(44): Show c.250-25830_250-25829insATATATATATATATATATATATATT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC2_chr16_80961448_81011885	80965194	A A	ATATATAT others(18): Show ATATATATATGCATATATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01975.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG01975.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0183 a0001c0001t0002g0005 a0001c0001t0002g0183	4	375	0.0107	25	c.10 others(38): Show c.10898_*10899insACATATATATATATGCATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1253		chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GGGAGAGA others(18): Show GGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	81	0.0123	25	c.300 others(44): Show c.300+75029_300+75030insGAGAGAGAGAGAGAGAGAGAGAGAG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81598968	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	150	0.0067	25	c.301 others(42): Show c.301-8577_301-8576insAAAAAAAAAAAAAAAAAAAAAAAAA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81668855	G G	GCCTTCCA others(18): Show GCCTTCCACACCCACCTCACACTAGC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0157 a0001c0001t0021g0157	1	266	0.0038	25	c.826 others(42): Show c.826-1265_826-1264insAGCCCTTCCACACCCACCTCACACT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172823	C C	CGGGAGAG others(18): Show CGGGAGAGGGAGAGGGAGACGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0086 a0004c0005t0001g0086	1	241	0.0041	25	c.33 others(36): Show c.3356_*3357insTCTCCCGTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2492		chr2	TogoVar
CMSS1_chr3_99812862_100186732	100031994	C C	CTAATTTT others(18): Show CTAATTTTTAATTTTTTTTTTTAATT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19066.hp2 NA18959.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0085 a0001c0001t0004g0019 a0001c0001t0002g0085 a0001c0001t0004g0019	2	232	0.0086	25	c.65- others(44): Show c.65-114963_65-114962insTTTTTAATTTAATTTTTAATTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19002.hp2 HG02027.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	112	0.0179	25	c.17 others(36): Show c.1709_*1710insAAAAAAAAAAAAAAAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM8_chr3_32233680_32375321	32295455	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	196	0.0051	25	c.147 others(44): Show c.147+56359_147+56360insAAAAAAAAAAAAAAAAAAAAAAAAA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp2 HG01928.hp2 others(6): Show HG01074.hp1 HG01361.hp2 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02293.hp2 HG03239.hp1 NA18966.hp1 NA18998.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0119 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0004c0005t0001g0008	9	67	0.1343	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATATATTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18977.hp1 NA18977.hp2 HG01070.hp2 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0246 a0001c0001t0002g0201 a0001c0001t0002g0274 a0001c0001t0001g0246 a0001c0001t0002g0201 a0001c0001t0002g0274	3	61	0.0492	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATATTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	59	0.0169	25	c.148 others(44): Show c.148-38298_148-38297insATATATATATATATTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR1_chr6_37428221_37486508	37449271	T T	TTGTTATG others(18): Show TTGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp2 HG01071.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0207 a0001c0001t0001g0178 a0001c0001t0002g0207	2	7	0.2857	25	c.445 others(40): Show c.445-958_445-934dupGTTATGTTATGTTATGTTATGTTAT	CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0008 a0023c0022t0008	a0023c0022t0008g0016 a0023c0022t0008g0016	1	42	0.0238	25	c.-96 others(34): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	3	0.3333	25	c.432 others(44): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0324 a0001c0002t0010g0324	1	43	0.0233	25	c.-15 others(42): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA3_chr2_98341456_98403601	98367167	G G	GTTTATTT others(18): Show GTTTATTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	307	0.0033	25	c.-37 others(42): Show c.-37-2769_-37-2768insATTTTCTTTTTTTTTTTTTTTTTTT	CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02145.hp1 HG04204.hp1 others(1): Show HG01346.hp1 HG02145.hp1 HG04204.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	4	73	0.0548	25	c.26 others(36): Show c.2634_*2635insAAAAAAAAAAAAAAAAAAAAAAAAA	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		2565		chr11	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(18): Show TTCTTTCTTTCTTTTTCTTTCTTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01256.hp2 others(1): Show HG00280.hp1 HG00280.hp2 HG01256.hp2 HG03710.hp2	a0001 a0009 a0020 a0001 a0009 a0020	a0001c0003 a0009c0032 a0020c0095 a0001c0003 a0009c0032 a0020c0095	a0001c0003t0001 a0009c0032t0006 a0020c0095t0001 a0001c0003t0001 a0009c0032t0006 a0020c0095t0001	a0001c0003t0001g0214 a0001c0003t0001g0253 a0009c0032t0006g0220 others(1): Show a0001c0003t0001g0214 a0001c0003t0001g0253 a0009c0032t0006g0220 a0020c0095t0001g0193	4	171	0.0234	25	c.43 others(36): Show c.4376_*4377insGGAAAGAAAGAAAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(18): Show TTCTTTCTTTTTCTTTCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00735.hp2 others(2): Show HG00408.hp2 HG00423.hp2 HG00735.hp2 NA18960.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 others(1): Show a0001c0001 a0001c0003 a0002c0005 a0002c0006	a0001c0001t0001 a0001c0001t0037 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0001t0037 a0001c0003t0006 a0002c0005t0001 a0002c0006t0006	a0001c0001t0001g0236 a0001c0001t0037g0246 a0001c0003t0006g0284 others(2): Show a0001c0001t0001g0236 a0001c0001t0037g0246 a0001c0003t0006g0284 a0002c0005t0001g0014 a0002c0006t0006g0323	5	172	0.0291	25	c.43 others(36): Show c.4376_*4377insGAAAGGAAAGAAAGAAAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879827	T T	TCCTTCCT others(18): Show TCCTTCCTTCCTTCCTTCCTTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0007 a0001c0070t0007	a0001c0070t0007g0134 a0001c0070t0007g0134	1	253	0.0040	25	c.43 others(36): Show c.4336_*4337insGAAGGAAGGAAGGAAGGAAGGAAGG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2512		chr16	TogoVar
CNKSR2_chrX_21369418_21659689	21495783	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	37	0.0270	25	c.682 others(42): Show c.682-1989_682-1965dupAAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	6/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG03017.hp2 others(4): Show HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 NA18951.hp2 NA18970.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 others(4): Show a0001c0001t0004 a0001c0001t0024 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0061 a0001c0010t0003	a0001c0001t0004g0219 a0001c0001t0024g0013 a0001c0001t0027g0185 others(4): Show a0001c0001t0004g0219 a0001c0001t0024g0013 a0001c0001t0027g0185 a0001c0002t0001g0100 a0001c0002t0002g0174 a0001c0002t0061g0035 a0001c0010t0003g0317	7	75	0.0933	25	c.946 others(40): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNN2_chr19_1021608_1044065	1025180	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19065.hp1 NA18969.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0008 a0001c0001t0001 a0001c0005t0008	a0001c0001t0001g0051 a0001c0005t0008g0012 a0001c0001t0001g0051 a0001c0005t0008g0012	2	101	0.0198	25	c.-14 others(36): Show c.-1482_-1481insAAAATAAAATAAAATAAAATAAAAT	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding		1427		chr19	TogoVar
CNNM1_chr10_99324356_99399330	99347599	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18995.hp2 NA19070.hp1 HG02698.hp2 NA18995.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0098 a0001c0001t0005g0198 a0001c0001t0009g0099 a0001c0001t0003g0098 a0001c0001t0005g0198 a0001c0001t0009g0099	3	316	0.0095	25	c.157 others(44): Show c.1574-9913_1574-9912insCACACACACACACACACACACACAC	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10			chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	73	0.0137	25	c.159 others(44): Show c.1596-4968_1596-4967insAAAAAAATATATATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58516124	T T	TGGGGCGG others(18): Show TGGGGCGGGGCGGGGCGGGGCGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	167	0.0060	25	c.48 others(36): Show c.4809_*4833dupGCCCCGCCCCGCCCCGCCCCGCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding		3826		chr16	TogoVar
CNOT1_chr16_58514951_58634826	58516148	G G	GCGGGGCG others(18): Show GCGGGGCGGGGCGGGGCGGGGCGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG03704.hp1 HG01168.hp2 HG03704.hp1	a0001 a0006 a0001 a0006	a0001c0007 a0006c0009 a0001c0007 a0006c0009	a0001c0007t0001 a0006c0009t0001 a0001c0007t0001 a0006c0009t0001	a0001c0007t0001g0103 a0006c0009t0001g0127 a0001c0007t0001g0103 a0006c0009t0001g0127	2	219	0.0091	25	c.48 others(36): Show c.4809_*4810insAACCGCCCCGCCCCGCCCCGCCCCG	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding		3802		chr16	TogoVar
CNOT2_chr12_70238433_70359993	70265271	G G	GTCTCTTC others(18): Show GTCTCTTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	274	0.0036	25	c.-95 others(44): Show c.-95-12860_-95-12859insCTCTTCTCTTCTCTTCTCTTCTCTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70265273	T T	TTCTTCTC others(18): Show TTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	84	0.0119	25	c.-95 others(44): Show c.-95-12829_-95-12805dupCTCTTCTCTTCTCTTCTCTTCTCTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70281816	T T	TTAAATTT others(18): Show TTAAATTTAAACTCATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01070.hp1 others(19): Show HG00621.hp2 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01257.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp2 NA18522.hp1 NA18941.hp2 NA18945.hp1 NA18977.hp2 NA18988.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0206 others(18): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0008g0005 a0001c0001t0008g0234 a0001c0001t0010g0231 a0001c0001t0010g0232 a0001c0001t0011g0229 a0001c0001t0016g0198	22	266	0.0827	25	c.48+ others(40): Show c.48+3575_48+3599dupAAACTCATTTAAATTAAATAAATTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar

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