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
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(38): Show CTTTTTCTTTTTCTCTTTTTTTTCTTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 HG03225.hp1 others(1): Show HG02145.hp2 HG02886.hp2 HG03225.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0019 a0002c0008t0001	a0001c0001t0001g0011 a0001c0002t0001g0063 a0001c0002t0019g0051 others(1): Show a0001c0001t0001g0011 a0001c0002t0001g0063 a0001c0002t0019g0051 a0002c0008t0001g0039	4	10	0.4000	45	c.175 others(64): Show c.1756+8209_1756+8210insCTTTTTCTCTTTTTTTTCTTTTTTCT TTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTROB_chr17_7927206_7954920	7943368	T T	TCCCCTTC others(38): Show TCCCCTTCCCCTTACCCTACCCCCACCCCCCCCCCCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	400	0.0025	45	c.131 others(60): Show c.1312-23_1312-22insCCCCTTCCCCTTACCCTACCCCCACCCCCC CCCCCCCACCCCCCC	CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	9/18			chr17	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01070.hp1 HG01070.hp2	a0001 a0012 a0001 a0012	a0001c0019 a0012c0036 a0001c0019 a0012c0036	a0001c0019t0001 a0012c0036t0003 a0001c0019t0001 a0012c0036t0003	a0001c0019t0001g0033 a0012c0036t0003g0091 a0001c0019t0001g0033 a0012c0036t0003g0091	2	85	0.0235	45	c.958 others(64): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG7_chr16_23383493_23458189	23408305	G G	GGGGGCGA others(38): Show GGGGGCGAGTGGGGCGGGAGGTAGGGGGCGAGTGGGGCGGGAGGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG02572.hp1 others(7): Show HG01099.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0022 others(6): Show a0001c0001t0002g0005 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029	10	268	0.0373	45	c.147 others(64): Show c.1475+1989_1475+1990insTACCTCCCGCCCCACTCGCCCCCTAC CTCCCGCCCCACTCGCCCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23408331	G G	GCGAGTGG others(38): Show GCGAGTGGGGCGGGAGGTAGGGGCGAGTGGGGCGGGAGGTAGGGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03195.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094	3	270	0.0111	45	c.147 others(64): Show c.1475+1963_1475+1964insTCCCCTACCTCCCGCCCCACTCGCCC CTACCTCCCGCCCCACTCG	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(38): Show GCTGCGGGGCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGGGTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0019 a0019	a0019c0067 a0019c0067	a0019c0067t0001 a0019c0067t0001	a0019c0067t0001g0012 a0019c0067t0001g0012	1	93	0.0108	45	c.11+ others(56): Show c.11+54_11+55insCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGG GTCCTGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(38): Show GCTGCGGGGCTGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	93	0.0108	45	c.11+ others(56): Show c.11+54_11+55insCTGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGG GTCCTGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921030	T T	TATATTCA others(38): Show TATATTCATATATATATTCATATATATATCATATATATTCATAGAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0010 a0002c0003t0012g0010	1	178	0.0056	45	c.267 others(62): Show c.267-6875_267-6874insTCATATATATATTCATATATATATCATA TATATTCATAGACATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921395	C C	CATATATA others(38): Show CATATATATCATATATCATATATATCATATATATTCATATATTCAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	146	0.0068	45	c.267 others(62): Show c.267-6508_267-6507insATCATATATCATATATATCATATATATT CATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636480	A A	AGAAAGGA others(38): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0095 a0002c0009t0002g0095	1	112	0.0089	45	c.355 others(62): Show c.3555+217_3555+261dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(38): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG03041.hp2 others(2): Show HG00735.hp1 HG02145.hp1 HG03041.hp2 NA19065.hp2 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0053 a0002c0003 others(2): Show a0001c0002 a0001c0053 a0002c0003 a0002c0011 a0004c0041	a0001c0002t0002 a0001c0053t0001 a0002c0003t0001 others(2): Show a0001c0002t0002 a0001c0053t0001 a0002c0003t0001 a0002c0011t0006 a0004c0041t0002	a0001c0002t0002g0027 a0001c0053t0001g0113 a0002c0003t0001g0098 others(2): Show a0001c0002t0002g0027 a0001c0053t0001g0113 a0002c0003t0001g0098 a0002c0011t0006g0121 a0004c0041t0002g0043	5	54	0.0926	45	c.355 others(62): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(38): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01167.hp2 others(10): Show HG00639.hp2 HG00735.hp2 HG01167.hp2 HG01943.hp1 HG03453.hp1 HG03492.hp1 HG03704.hp1 HG04228.hp2 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0001c0002 a0001c0028 others(4): Show a0001c0001 a0001c0002 a0001c0028 a0002c0003 a0003c0013 a0005c0061 a0012c0047	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0028t0003 a0002c0003t0001 a0003c0013t0003 a0005c0061t0001 a0012c0047t0001	a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0003g0002 others(10): Show a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0003g0002 a0001c0001t0006g0108 a0001c0002t0001g0075 a0001c0002t0001g0102 a0001c0002t0001g0125 a0001c0002t0005g0153 a0001c0028t0003g0005 a0002c0003t0001g0067 a0003c0013t0003g0006 a0005c0061t0001g0106 a0012c0047t0001g0099	13	62	0.2097	45	c.355 others(62): Show c.3555+209_3555+210insGCCTTGCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(38): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01981.hp1 others(1): Show HG01361.hp1 HG01361.hp2 HG01981.hp1 HG03831.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0007 a0005c0021 others(1): Show a0001c0002 a0002c0007 a0005c0021 a0005c0051	a0001c0002t0001 a0002c0007t0003 a0005c0021t0001 others(1): Show a0001c0002t0001 a0002c0007t0003 a0005c0021t0001 a0005c0051t0001	a0001c0002t0001g0050 a0002c0007t0003g0010 a0005c0021t0001g0071 others(1): Show a0001c0002t0001g0050 a0002c0007t0003g0010 a0005c0021t0001g0071 a0005c0051t0001g0055	4	53	0.0755	45	c.355 others(62): Show c.3555+209_3555+210insGCCTTGCCTTGCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178547928	C C	CACCCACA others(38): Show CACCCACACCCACCCCCCACACACACCCACACACCTACACCCACAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp1 HG01361.hp2 others(15): Show HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01884.hp1 HG02015.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18973.hp1 NA19000.hp1 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0002c0002t0010 a0002c0003t0002 a0002c0009t0008 a0003c0004t0002 a0003c0004t0003	a0001c0001t0002g0049 a0001c0001t0003g0006 a0001c0001t0003g0210 others(15): Show a0001c0001t0002g0049 a0001c0001t0003g0006 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0100 a0001c0001t0005g0161 a0001c0001t0006g0230 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0052 a0002c0002t0010g0228 a0002c0003t0002g0211 a0002c0009t0008g0235 a0003c0004t0002g0061 a0003c0004t0003g0010 a0003c0004t0003g0145 a0003c0004t0003g0217	18	93	0.1935	45	c.361 others(64): Show c.361+12709_361+12753dupATGTGGGTGTAGGTGTGTGGGTGTGT GTGGGGGGTGGGTGTGGGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547928	C C	CACCCACC others(38): Show CACCCACCCCCACCCCCCACACACACCCACACACCTACACCCACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01167.hp1 others(11): Show HG01070.hp1 HG01074.hp1 HG01167.hp1 HG01346.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02970.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0017 a0002c0003 others(3): Show a0001c0001 a0001c0017 a0002c0003 a0003c0004 a0003c0007 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0001c0017t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0017t0006 a0002c0003t0003 a0003c0004t0002 a0003c0007t0001 a0004c0006t0003	a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0003g0215 others(11): Show a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0003g0215 a0001c0001t0005g0113 a0001c0001t0005g0216 a0001c0017t0006g0234 a0002c0003t0003g0168 a0003c0004t0002g0005 a0003c0007t0001g0030 a0003c0007t0001g0097 a0003c0007t0001g0098 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143	14	89	0.1573	45	c.361 others(64): Show c.361+12753_361+12754insATGTGGGTGTAGGTGTGTGGGTGTGT GTGGGGGGTGGGGGTGGGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(38): Show CCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	42	0.0238	45	c.492 others(64): Show c.492+12754_492+12798dupAACAGAACAGAACAGAACAGAACAGA ACAGAACAGAACAGAACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL3A1_chr2_188969373_189017746	188993165	G G	GAAACTGA others(38): Show GAAACTGATAATGCAATCACACACACATAGTTACATTTTTCTCTGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	374	0.0027	45	c.105 others(62): Show c.1051-195_1051-151dupAAACTGATAATGCAATCACACACACATA GTTACATTTTTCTCTGC	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	15/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188997014	T T	TATATATA others(38): Show TATATATATATGAGACATATATATATGAGACATATATATATGAGAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01346.hp2 others(11): Show HG00609.hp1 HG00621.hp2 HG01346.hp2 HG01891.hp2 HG02647.hp1 HG02922.hp2 HG03195.hp2 HG03579.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18970.hp2 NA18982.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0056 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0006g0058	14	51	0.2745	45	c.176 others(61): Show c.1762-104_1762-60dupTATATATATGAGACATATATATATGAGAC ATATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0066 a0006c0010t0006g0066	1	56	0.0179	45	c.546 others(60): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01516.hp1 HG00673.hp2 HG01516.hp1	a0003 a0005 a0003 a0005	a0003c0002 a0005c0005 a0003c0002 a0005c0005	a0003c0002t0003 a0005c0005t0007 a0003c0002t0003 a0005c0005t0007	a0003c0002t0003g0192 a0005c0005t0007g0275 a0003c0002t0003g0192 a0005c0005t0007g0275	2	57	0.0351	45	c.546 others(60): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134712040	T T	TTCCCCCC others(38): Show TTCCCCCCTCCTTCCTTCCCCCCTTCTTCCTGCCCCCTTCTTCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0003t0003g0255 a0001c0003t0010g0259	2	267	0.0075	45	c.654 others(64): Show c.654+10707_654+10708insTCCCCCCTCCTTCCTTCCCCCCTTCT TCCTGCCCCCTTCTTCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65			chr9	TogoVar
COL6A1_chr21_45976770_46010048	45981694	G G	GCCCCTCC others(38): Show GCCCCTCCCCTCCCCTCCCCGCCCCCTCTCGCCCCGCCCCTCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0002 a0014c0020t0002	a0014c0020t0002g0002 a0014c0020t0002g0002	1	123	0.0081	45	c.-15 others(54): Show c.-157_-156insCCCCTCCCCTCCCCTCCCCGCCCCCTCTCGCCCCGC CCCTCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		75		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987976	G G	GGGGTCCA others(38): Show GGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0003 a0009c0029t0003	a0009c0029t0003g0028 a0009c0029t0003g0028	1	124	0.0081	45	c.804 others(60): Show c.804+325_804+326insTCCAGATGGAGGGGATGGCGGGGTCCAGAT GGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999971	G G	GATCATGG others(38): Show GATCATGGAGGGCATGTGAGGATCATGGGGGGGACATGTGAGGATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02970.hp2 others(1): Show HG02572.hp1 HG02630.hp1 HG02970.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0009 a0002c0002t0001 a0002c0002t0009	a0002c0002t0001g0042 a0002c0002t0009g0038 a0002c0002t0009g0084 others(1): Show a0002c0002t0001g0042 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122	4	25	0.1600	45	c.177 others(62): Show c.1776+290_1776+291insCATGTGAGGATCATGGGGGGGACATGTG AGGATCATCATGGAGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	129	0.0078	45	c.-11 others(56): Show c.-1118_-1117insAAAAATATATATATATATATATATATATATATAT ATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0016c0030 a0001c0002 a0016c0030	a0001c0002t0001 a0016c0030t0001 a0001c0002t0001 a0016c0030t0001	a0001c0002t0001g0020 a0016c0030t0001g0109 a0001c0002t0001g0020 a0016c0030t0001g0109	2	130	0.0154	45	c.-11 others(56): Show c.-1118_-1117insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(38): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0022	1	129	0.0078	45	c.-11 others(56): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COMMD1_chr2_61900674_62141058	62107993	G G	GCAAAATG others(38): Show GCAAAATGAGTCTGTTTATCCCCCAGCATGCCAGCCCATAATTCTA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	284	0.0035	45	c.463 others(64): Show c.463-27836_463-27792dupAAAATGAGTCTGTTTATCCCCCAGCA TGCCAGCCCATAATTCTAC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COPE_chr19_18894514_18924387	18902817	G G	GAAAGAAA others(38): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0264 a0003c0004t0001g0264	1	312	0.0032	45	c.735 others(60): Show c.735+450_735+451insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAAAGA others(38): Show GAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01346.hp2 HG02258.hp2 others(29): Show HG00609.hp1 HG01346.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG03098.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp2 HG06807.hp2 NA18941.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18969.hp2 NA18989.hp1 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19080.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0001 a0002c0003t0001 a0002c0007t0001	a0002c0003t0001g0016 a0002c0003t0001g0041 a0002c0003t0001g0042 others(28): Show a0002c0003t0001g0016 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0045 a0002c0003t0001g0060 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0094 a0002c0003t0001g0120 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0200 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0140	32	177	0.1808	45	c.735 others(60): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTCTTTCTTTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPS5_chr8_67038079_67067133	67057936	A A	AATATCAC others(38): Show AATATCACACGTGAGTGATCTCTCTCTTTTCCTCCTCCTCCGTTGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	290	0.0034	45	c.507 others(60): Show c.507+146_507+147insACAACGGAGGAGGAGGAAAAGAGAGAGATC ACTCACGTGTGATAT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	3/7			chr8	TogoVar
COX14_chr12_50107236_50125453	50118815	T T	TGAGGTAG others(38): Show TGAGGTAGTCTTCCTGACTTTTAAGAAACCTATCTCGCTAATTTCA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	416	0.0024	45	c.-8- others(60): Show c.-8-1219_-8-1175dupAGGTAGTCTTCCTGACTTTTAAGAAACCTA TCTCGCTAATTTCAG	COX14	ENSG00000178449.9	transcript	ENST00000550487.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01258.hp1 others(8): Show HG00639.hp1 HG00639.hp2 HG01258.hp1 HG02056.hp2 HG02922.hp1 HG03688.hp2 HG03704.hp1 NA18747.hp2 NA18962.hp1 NA19055.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0113 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0274 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308	11	159	0.0692	45	c.308 others(62): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPNE8_chr12_38647203_38910591	38902381	A A	AAAAGAAA others(38): Show AAAAGAAAGAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0313 a0001c0001t0022g0313	1	247	0.0040	45	c.98+ others(60): Show c.98+3055_98+3056insCTTTCTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTCTTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96926570	C C	CTCTTCTT others(38): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0038 a0001c0007t0001g0038	1	109	0.0092	45	c.850 others(64): Show c.850-39360_850-39359insTTCTTCTTCTTCTTCTTCTTCTTATT CTTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(38): Show CTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0003	2	19	0.1053	45	c.850 others(64): Show c.850-39354_850-39353insCTCTTCCTCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	161	0.0062	45	c.103 others(62): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT ATATATGTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69236456	T T	TATTAAAA others(38): Show TATTAAAATATATATAGCATATATATATTAAAATATATATAGCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	371	0.0027	45	c.-31 others(56): Show c.-3191_-3190insATTAAAATATATATAGCATATATATATTAAAATA TATATAGCATA	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3112		chr12	TogoVar
CPT1C_chr19_49686116_49718731	49701126	G G	GGTCTCTG others(38): Show GGTCTCTGTCCCCCTCTCTCTGGGTCTCTGCCCCCTCTCTCTCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG00741.hp2 others(18): Show HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01993.hp2 HG02109.hp2 HG02738.hp2 HG02965.hp2 HG02976.hp2 HG03492.hp2 HG03831.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0004 a0002c0005 others(1): Show a0001c0002 a0001c0004 a0002c0005 a0004c0007	a0001c0002t0002 a0001c0004t0002 a0002c0005t0002 others(1): Show a0001c0002t0002 a0001c0004t0002 a0002c0005t0002 a0004c0007t0002	a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0190 others(17): Show a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0190 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0004t0002g0189 a0001c0004t0002g0193 a0001c0004t0002g0202 a0001c0004t0002g0203 a0002c0005t0002g0014 a0002c0005t0002g0195 a0002c0005t0002g0200 a0004c0007t0002g0207	21	348	0.0603	45	c.454 others(60): Show c.454-162_454-161insCCCCCTCTCTCTCTGCGTCTCTGTCCCCCT CTCTCTGGGTCTCTG	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT2_chr1_53191824_53219197	53217742	A A	AGGGGGGG others(38): Show AGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0077 a0010c0014t0001g0077	1	384	0.0026	45	c.41 others(56): Show c.4147_*4148insGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGG GGGGGGGGGGG	CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding		3546		chr1	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(38): Show ACCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00639.hp2 others(22): Show HG00099.hp2 HG00597.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01516.hp1 HG01934.hp2 HG02080.hp1 HG02109.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG04184.hp2 NA18943.hp2 NA18946.hp1 NA18967.hp1 NA18967.hp2 NA19066.hp2 NA19085.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0032 a0005c0012 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0009 a0001c0011t0002 a0001c0032t0001 a0005c0012t0001 a0006c0016t0013	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 others(22): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0002t0002g0077 a0001c0002t0003g0221 a0001c0003t0001g0061 a0001c0003t0001g0098 a0001c0003t0001g0220 a0001c0003t0001g0222 a0001c0003t0002g0075 a0001c0004t0001g0060 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0005t0009g0230 a0001c0011t0002g0231 a0001c0032t0001g0225 a0005c0012t0001g0120 a0006c0016t0013g0079	25	172	0.1453	45	c.305 others(60): Show c.305-917_305-916insGAGGGGAGGGGAGGGGAGGGAAGGGGAGGG GAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CRACD_chr4_56044098_56335609	56183235	A A	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	37	0.0270	45	c.-18 others(64): Show c.-189+3815_-189+3859dupTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56218425	C C	CCCTTCCC others(38): Show CCCTTCCCCTCCCTTTCCATCCCCTCCCTTTCCTTCCCCTGCCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0171 a0001c0001t0005g0171	1	247	0.0040	45	c.-18 others(66): Show c.-189+39013_-189+39057dupATCCCCTCCCTTTCCTTCCCCTGC CTTTCCTTCCCCTCCCTTTCC	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3745780	A A	AAAAATAA others(38): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18942.hp1 NA19079.hp1 HG02486.hp2 NA18942.hp1 NA19079.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0014 a0001c0001 a0016c0014	a0001c0001t0001 a0016c0014t0001 a0001c0001t0001 a0016c0014t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0016c0014t0001g0029 a0001c0001t0001g0218 a0001c0001t0001g0219 a0016c0014t0001g0029	3	132	0.0227	45	c.-38 others(64): Show c.-387+7190_-387+7234dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CRACR2B_chr11_822919_836986	833067	C C	CGGGGCGA others(38): Show CGGGGCGAGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGCGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18970.hp1 NA18992.hp2 NA18612.hp2 NA18970.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0008g0001 a0001c0001t0002g0001 a0001c0001t0008g0001	3	446	0.0067	45	c.13 others(56): Show c.1358_*1359insGGGGCGAGGGGGGCGAGGGGCGCGAGGGGGGCGA GGGGCGCGAGG	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1082		chr11	TogoVar
CRCP_chr7_66109847_66159568	66117196	T T	TCTCTCAG others(38): Show TCTCTCAGCAGTGGTTAATACAGAAACTCTAGAAACTTTCCTTTTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	378	0.0026	45	c.8+2 others(58): Show c.8+2227_8+2271dupCTCTCAGCAGTGGTTAATACAGAAACTCTAGA AACTTTCCTTTTC	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRISP2_chr6_49687359_49718543	49701610	G G	GTATATAT others(38): Show GTATATATGTATACATTATATATGTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	171	0.0058	45	c.67- others(58): Show c.67-827_67-826insATGTATACATATATAATGTATACATATATAAT GTATACATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRMP1_chr4_5815764_5898086	5821939	T T	TCCACCTT others(38): Show TCCACCTTAGCAGAAGTCGTAACCCCGCCCCATCTTCAGGTGTTCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01071.hp1 others(41): Show HG00140.hp1 HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01934.hp1 HG02040.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0002 a0001c0003 a0001c0031 others(6): Show a0001c0002 a0001c0003 a0001c0031 a0002c0004 a0002c0005 a0003c0018 a0003c0026 a0006c0028 a0007c0034	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0003t0001 a0001c0003t0002 a0001c0031t0004 a0002c0004t0002 a0002c0005t0002 a0002c0005t0004 a0003c0018t0002 a0003c0018t0004 a0003c0026t0003 a0006c0028t0002 a0007c0034t0001	a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0002g0002 others(39): Show a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0064 a0001c0002t0002g0092 a0001c0002t0002g0194 a0001c0002t0002g0201 a0001c0002t0002g0271 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0004g0081 a0001c0002t0005g0084 a0001c0002t0005g0150 a0001c0002t0005g0171 a0001c0002t0005g0254 a0001c0002t0010g0286 a0001c0003t0001g0226 a0001c0003t0002g0056 a0001c0003t0002g0066 a0001c0003t0002g0180 a0001c0003t0002g0197 a0001c0003t0002g0273 a0001c0031t0004g0301 a0002c0004t0002g0007 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0030 a0002c0004t0002g0046 a0002c0004t0002g0052 a0002c0004t0002g0053 a0002c0005t0002g0028 a0002c0005t0002g0029 a0002c0005t0002g0035 a0002c0005t0002g0045 a0002c0005t0002g0051 a0002c0005t0004g0011 a0003c0018t0002g0175 a0003c0018t0004g0209 a0003c0026t0003g0196 a0006c0028t0002g0222 a0007c0034t0001g0309	44	312	0.1410	45	c.197 others(60): Show c.1970-89_1970-88insCGAACACCTGAAGATGGGGCGGGGTTACGA CTTCTGCTAAGGTGG	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	13/13			chr4	TogoVar
CRMP1_chr4_5815764_5898086	5856873	T T	TCACCACC others(38): Show TCACCACCACCACCACCATCATCATCATTACTAACATTATCACCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	306	0.0033	45	c.656 others(60): Show c.656-611_656-567dupGTGGTGATAATGTTAGTAATGATGATGATG GTGGTGGTGGTGGTG	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	3/13			chr4	TogoVar
CROCC2_chr2_240901336_240998311	240976600	G G	GTCTCTGG others(38): Show GTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	346	0.0029	45	c.440 others(64): Show c.4402-6261_4402-6260insTGGAGCCCAGGCTCATCCCTGCTCAA TCTCTGGGGTAGGAGCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar

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