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
CEP72_chr5_607340_658553	650083	C C	CGTGACTG others(87): Show CGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	91	0.0110	94	c.177 others(113): Show c.1778+2179_1778+2180insCGTGGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650188	T T	TGGACTGT others(87): Show TGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAG GCGTGGACTGTGAGGCGTGACTGTGAGGTGTGCCTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04115.hp2 HG01243.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0081 a0002c0002t0001g0082	2	91	0.0220	94	c.177 others(113): Show c.1778+2273_1778+2274insGACTGTGAGGCGTGACTGTGAGGCGT GACTGTGAGGCGTGACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGG TGTGCCTGTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERKL_chr2_181531672_181662105	181606400	G G	GGAGGGGA others(87): Show GGAGGGGAGGGGAGAGGAGGGGGAGGGGAGGGGAGAGGAGGGGGAGGGGA GGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02970.hp2 HG02897.hp2 HG02970.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0016 a0001c0002 a0009c0016	a0001c0002t0002 a0009c0016t0002 a0001c0002t0002 a0009c0016t0002	a0001c0002t0002g0071 a0009c0016t0002g0133 a0001c0002t0002g0071 a0009c0016t0002g0133	2	298	0.0067	94	c.239 others(111): Show c.239-2322_239-2321insTCCTCCCCCCTCCCCTCCCCTCCTCTCC CCTCCCCTCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCCCCCT CCTCTCCCCTCCCCTC	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CFAP299_chr4_80330730_80968750	80799293	A A	ATATTTAT others(87): Show ATATTTATATAATATTTATATATATATTGTATAAATATATTTATATAATA TTTATATATATAAATATATTTATATAATATTTATATATATAAATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02976.hp2 HG00642.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0001 a0001c0003t0002 a0002c0002t0001	a0001c0003t0002g0090 a0002c0002t0001g0016 a0001c0003t0002g0090 a0002c0002t0001g0016	2	96	0.0208	94	c.334 others(113): Show c.334-70675_334-70674insTTGTATAAATATATTTATATAATATT TATATATATAAATATATTTATATAATATTTATATATATAAATGTATTTAT ATAATATTTATATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132887606	C C	CTCCTCTC others(87): Show CTCCTCTCCTCTCTCCTCTTTCACCTCTCTCCTCTCCTCTCTCTCTCCTC TCCTCTCTCTCTCCGCTCCTCTCTCTCTCCTCTCCCCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(58): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02886.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19062.hp1 NA19067.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(15): Show a0002 a0003 a0004 a0017 a0021 a0031 a0035 a0038 a0044 a0052 a0062 a0063 a0071 a0072 a0074 a0078 a0080 a0081	a0002c0002 a0002c0003 a0002c0023 others(22): Show a0002c0002 a0002c0003 a0002c0023 a0002c0056 a0003c0019 a0003c0038 a0003c0054 a0004c0007 a0004c0011 a0017c0031 a0017c0100 a0021c0033 a0031c0107 a0035c0035 a0038c0068 a0044c0108 a0052c0037 a0062c0053 a0063c0070 a0071c0085 a0072c0069 a0074c0052 a0078c0055 a0080c0057 a0081c0067	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(22): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0056t0001 a0003c0019t0001 a0003c0038t0001 a0003c0054t0001 a0004c0007t0002 a0004c0011t0002 a0017c0031t0002 a0017c0100t0002 a0021c0033t0001 a0031c0107t0002 a0035c0035t0001 a0038c0068t0001 a0044c0108t0002 a0052c0037t0001 a0062c0053t0001 a0063c0070t0002 a0071c0085t0002 a0072c0069t0001 a0074c0052t0001 a0078c0055t0001 a0080c0057t0001 a0081c0067t0001	a0002c0002t0001g0126 a0002c0002t0001g0159 a0002c0002t0001g0160 others(57): Show a0002c0002t0001g0126 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0144 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0150 a0002c0023t0001g0204 a0002c0056t0001g0164 a0003c0019t0001g0233 a0003c0038t0001g0145 a0003c0054t0001g0188 a0004c0007t0002g0056 a0004c0011t0002g0001 a0004c0011t0002g0055 a0004c0011t0002g0087 a0017c0031t0002g0030 a0017c0031t0002g0072 a0017c0100t0002g0114 a0021c0033t0001g0238 a0031c0107t0002g0022 a0035c0035t0001g0161 a0038c0068t0001g0231 a0044c0108t0002g0018 a0052c0037t0001g0230 a0062c0053t0001g0180 a0063c0070t0002g0013 a0071c0085t0002g0074 a0072c0069t0001g0158 a0074c0052t0001g0178 a0078c0055t0001g0191 a0080c0057t0001g0183 a0081c0067t0001g0232	61	246	0.2480	94	c.330 others(113): Show c.3305-1648_3305-1647insAGAGAAGAGGGGAGAGGAGAGAGAGA GGAGCGGAGAGAGAGAGGAGAGGAGAGAGAGAGGAGAGGAGAGAGGTGAA AGAGGAGAGAGGAGAGGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35924363	G G	GTGTATAG others(87): Show GTGTATAGGTGTAGATATATGTGTACATATGTGCACATATGTGTATAGGT GTACATATATGTGTACATATGTGCACATATGTGTATAGATGTACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0211 a0015c0020t0001g0211	1	216	0.0046	94	c.250 others(111): Show c.250-1653_250-1652insGTATAGGTGTAGATATATGTGTACATAT GTGCACATATGTGTATAGGTGTACATATATGTGTACATATGTGCACATAT GTGTATAGATGTACAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20320401	G G	GTAATATA others(87): Show GTAATATATTATATATATGTAATATATATATGTAATATATTATATATATG TAATATATATAATATATGTAATATATATTATATATGTAATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0013 a0002c0002t0006g0013	1	236	0.0042	94	c.342 others(115): Show c.3423-21422_3423-21421insTATATATATGTAATATATATATGT AATATATTATATATATGTAATATATATAATATATGTAATATATATTATAT ATGTAATATATATAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73270510	C C	CCTCCCCT others(87): Show CCTCCCCTCCCCTTCCCACTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG01891.hp2 others(10): Show HG00735.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02818.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0009c0007 a0003c0003 a0009c0007	a0003c0003t0002 a0009c0007t0002 a0003c0003t0002 a0009c0007t0002	a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 others(10): Show a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0009 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0009c0007t0002g0015	13	220	0.0591	94	c.313 others(111): Show c.3136-796_3136-795insAGGGGAGGGGAGGGGGAGGGGAGGGGAG AGGGGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGT GGGAAGGGGAGGGGAG	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	25/27			chr10	TogoVar
CFAP99_chr4_2413955_2468002	2466211	A A	AAAAAAGA others(87): Show AAAAAAGAAAAACGAAAAAAAGGAAACCCAAAAAAGAGGAAGAAAAAAAG AAGACAAAAGAAAAAAAAGAAAAGGAAGAAAAAAAAGAAACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0167 a0001c0006t0001g0167	1	350	0.0029	94	c.32 others(105): Show c.3285_*3286insAAAAAGAAAAACGAAAAAAAGGAAACCCAAAAAA GAGGAAGAAAAAAAGAAGACAAAAGAAAAAAAAGAAAAGGAAGAAAAAAA AGAAACCCCC	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3210		chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(87): Show TTATATAAATAAATATTTATAATATATATTTATTATATATTTATATATAA CAAATATTTATAATATATATTTATTATATAAACAAATATTTATAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19085.hp1 NA19068.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0195 a0001c0001t0001g0154 a0001c0001t0001g0195	2	354	0.0057	94	c.905 others(109): Show c.905-546_905-545insTTATAAATATTTGTTTATATAATAAATATA TATTATAAATATTTGTTATATATAAATATATAATAAATATATATTATAAA TATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(87): Show TTATATAAATAAATATTTATAATATATATTTATTATATATTTATATATAA TAAATATTTATAATATATATTTATTATATAAACAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02451.hp1 others(8): Show HG00741.hp2 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02922.hp1 HG03453.hp2 NA18941.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0262 others(8): Show a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0262 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0182	11	354	0.0311	94	c.905 others(109): Show c.905-546_905-545insTTATAAATATTTGTTTATATAATAAATATA TATTATAAATATTTATTATATATAAATATATAATAAATATATATTATAAA TATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(87): Show TTATATAAATAAATATTTATAATATATATTTATTATATATTTATATATAA TAAATATTTATAATATATATTTATTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	354	0.0028	94	c.905 others(109): Show c.905-546_905-545insTTATAAATATTTATTTATATAATAAATATA TATTATAAATATTTATTATATATAAATATATAATAAATATATATTATAAA TATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753324	T T	TATAAATA others(87): Show TATAAATAAATATTATATAAATAAATATTTATAACATATATTTATTATAT AAATAAATATTTATAATATATATTTATTATATATTTATTATATAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18747.hp2 HG03486.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0018 a0002c0003t0001g0314 a0001c0001t0001g0018 a0002c0003t0001g0314	2	354	0.0057	94	c.905 others(109): Show c.905-822_905-821insTTATATAATAAATATATAATAAATATATAT TATAAATATTTATTTATATAATAAATATATGTTATAAATATTTATTTATA TAATATTTATTTAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756918	A A	AAAGAAAG others(87): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0308 a0002c0003t0001g0308	1	354	0.0028	94	c.904 others(109): Show c.904+844_904+845insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHAT_chr10_49609037_49672942	49622022	G G	GAGCGGCC others(87): Show GAGCGGCCGAGGAGGAGAGCAGGGAGAGCAGAAGCGGAGGAGAAGAGGAA GGGAGGAGAAGGAAGGAGATGGAAGGAGAGGAAGGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0329 a0001c0001t0004g0329	1	418	0.0024	94	c.699 others(107): Show c.699-75_699-74insAGCGGCCGAGGAGGAGAGCAGGGAGAGCAGAA GCGGAGGAGAAGAGGAAGGGAGGAGAAGGAAGGAGATGGAAGGAGAGGAA GGAGGGAGGGGA	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	4/14			chr10	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(87): Show TATATATATATATATATATATATATATATATATTCTGGATATATATATCC TGGACATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(31): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01433.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18942.hp1 NA18947.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19054.hp2 NA19065.hp1 NA19066.hp1 NA19075.hp1 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0034 a0001c0001t0057 a0001c0001t0070 a0001c0001t0084	a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0001t0001g0170 others(31): Show a0001c0001t0001g0140 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0219 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0312 a0001c0001t0002g0126 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0183 a0001c0001t0003g0220 a0001c0001t0003g0233 a0001c0001t0003g0273 a0001c0001t0004g0199 a0001c0001t0005g0162 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0182 a0001c0001t0005g0291 a0001c0001t0007g0141 a0001c0001t0009g0313 a0001c0001t0018g0311 a0001c0001t0019g0191 a0001c0001t0023g0245 a0001c0001t0034g0143 a0001c0001t0057g0214 a0001c0001t0070g0186 a0001c0001t0084g0268	34	320	0.1063	94	c.-14 others(105): Show c.-1422_-1421insATATATATATATATATATATATATATATATATTC TGGATATATATATCCTGGACATATATATATATATATATTCTGGATATATA TATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867855	T T	TATATATA others(87): Show TATATATATATATATATATATATATATTCTGGATATATATATCCTGGACA TATATATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02723.hp2 HG04199.hp1 HG00733.hp1 HG02723.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0036 a0001c0001t0085 a0001c0001t0012 a0001c0001t0036 a0001c0001t0085	a0001c0001t0012g0061 a0001c0001t0036g0056 a0001c0001t0085g0057 a0001c0001t0012g0061 a0001c0001t0036g0056 a0001c0001t0085g0057	3	320	0.0094	94	c.-14 others(105): Show c.-1420_-1419insATATATATATATATATATATATATATTCTGGATA TATATATCCTGGACATATATATATATATATATATATATTCTGGATATATA TATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		796		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867857	T T	TATATATA others(87): Show TATATATATATATATATATATATATATATATATTCTGGATATATATATCC TGGACATATATATATATATATATTCTGGATATATATATCCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0246 a0001c0001t0043g0246	1	320	0.0031	94	c.-14 others(105): Show c.-1418_-1417insATATATATATATATATATATATATATATATATTC TGGATATATATATCCTGGACATATATATATATATATATTCTGGATATATA TATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		794		chr7	TogoVar
CHST5_chr16_75523530_75541108	75526190	T T	TGTGCATG others(87): Show TGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTG TGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	2	394	0.0051	94	c.29 others(105): Show c.2958_*2959insTCACATGCACACTCACATGCACACTCACATGCAC ACACACATGCACACTCACATGCACACTCACATGCACACTCACATGCACAC ACACATGCAC	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2339		chr16	TogoVar
CHST5_chr16_75523530_75541108	75526200	A A	AGTGTGCA others(87): Show AGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTG TGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGCATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	394	0.0025	94	c.29 others(105): Show c.2948_*2949insACACATGCACTCACATGCACACTCACATGCACAC TCACATGCACACACACATGCACACTCACATGCACACTCACATGCACACTC ACATGCACAC	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2329		chr16	TogoVar
CLDN15_chr7_101227094_101242802	101237223	C C	CCAGCACT others(87): Show CCAGCACTCCTGGCTGCGGGAACTCAGACCCGCAGAGCTTAATTCAGGGC TCCCTGCATCCTCACGGAAGTACCCGCCCTCCCCTGGGGTCTCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	402	0.0025	94	c.217 others(108): Show c.217+48_217+141dupCAGAGACCCCAGGGGAGGGCGGGTACTTCCG TGAGGATGCAGGGAGCCCTGAATTAAGCTCTGCGGGTCTGAGTTCCCGCA GCCAGGAGTGCTG	CLDN15	ENSG00000106404.14	transcript	ENST00000308344.10	protein_coding	1/4			chr7	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(87): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0186 a0001c0001t0051g0186	1	454	0.0022	94	c.21 others(103): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLIC5_chr6_45893456_46020860	45904647	C C	CCTCCCTC others(87): Show CCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCC TCCCTCTCTCCTTCCTTCCCTCCCTCCTTCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01069.hp1 others(37): Show HG00544.hp1 HG00558.hp2 HG01069.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18974.hp2 NA18982.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19003.hp1 NA19010.hp2 NA19068.hp1 NA19088.hp1 NA20129.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0004 a0008c0008 a0001c0001 a0004c0004 a0008c0008	a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 others(5): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0040 a0001c0001t0043 a0001c0001t0049 a0004c0004t0044 a0008c0008t0019	a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0001t0003g0068 others(37): Show a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0084 a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0181 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0242 a0001c0001t0003g0261 a0001c0001t0003g0271 a0001c0001t0003g0309 a0001c0001t0013g0040 a0001c0001t0013g0042 a0001c0001t0013g0045 a0001c0001t0014g0005 a0001c0001t0014g0284 a0001c0001t0014g0315 a0001c0001t0040g0038 a0001c0001t0043g0171 a0001c0001t0049g0338 a0004c0004t0044g0003 a0008c0008t0019g0033	40	340	0.1177	94	c.589 others(111): Show c.589-1393_589-1392insAAGGAGGGAAGGAGAGAAGGAGGGAGGG AAGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAG AGAGGGAGGGAGGGAG	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	5/5			chr6	TogoVar
CNBD1_chr8_86861415_87387859	87136827	T T	TTTATATT others(87): Show TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTAAATATAAATATATATATTTATATTATATATAAATTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	152	0.0066	94	c.432 others(113): Show c.432-69165_432-69164insTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTAAATATAAATATATATATTT ATATTATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(87): Show GACACACACACACACACACACACACACACACACACACACACACCCCGGAA CCTTCGCGCGCACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0290 a0001c0001t0006g0290	1	328	0.0031	94	c.5+2 others(105): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GCGCGCGAAGGTTCCGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
COA1_chr7_43634257_43734523	43644822	A A	AGAGACAG others(87): Show AGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGACAGGGAGAGAGAGAGAGAGAGACAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG01891.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	384	0.0052	94	c.264 others(109): Show c.264+428_264+429insCCTGTCTCTCTCTCTCTCTCTCCCTGTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTGTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110219856	G G	GTATATAT others(87): Show GTATATATGTGTGTATATATGTATATATATGTGTGTATATATATGTATAT ATATGTGTGTATATATATGTATATATATGTGTGTATATATATGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0095	1	344	0.0029	94	c.145 others(111): Show c.145-5842_145-5841insTACATATATATACACACATATATATACA TATATATACACACATATATATACATATATATACACACATATATATACATA TATACACACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219864	G G	GTGTGTAT others(87): Show GTGTGTATATATATGTATATATATGTGTGTATATATATGTATATATATGT GTGTATATATATGTATATATATGTGTGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19004.hp1 NA19088.hp1 HG00408.hp2 NA19004.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0039 a0004c0022 a0001c0001 a0002c0039 a0004c0022	a0001c0001t0001 a0002c0039t0002 a0004c0022t0001 a0001c0001t0001 a0002c0039t0002 a0004c0022t0001	a0001c0001t0001g0133 a0002c0039t0002g0271 a0004c0022t0001g0100 a0001c0001t0001g0133 a0002c0039t0002g0271 a0004c0022t0001g0100	3	344	0.0087	94	c.145 others(111): Show c.145-5850_145-5849insTATATATACATATATATACACACATATA TATACATATATATACACACATATATATACATATATATACACACATATATA TACATATATATACACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219880	A A	ATATATAT others(87): Show ATATATATGTGTGTATATATATGTATATATATGTGTGTATATATATGTAT ATATATGTGTGTATATATATGTATATATATGTGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0056 a0004c0005t0001g0056	1	344	0.0029	94	c.145 others(111): Show c.145-5866_145-5865insCATATATATACACACATATATATACATA TATATACACACATATATATACATATATATACACACATATATATACATATA TATACACACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355543	G G	GTGTGGGG others(87): Show GTGTGGGGGGAGGGCAGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01169.hp2 others(6): Show HG00642.hp1 HG01167.hp2 HG01169.hp2 HG01993.hp2 HG02615.hp1 HG03834.hp1 NA18981.hp2 NA18982.hp1 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0002c0007 a0002c0037 a0003c0010 a0005c0020 a0005c0027	a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 a0002c0007t0005 a0002c0037t0002 a0003c0010t0005 a0005c0020t0006 a0005c0027t0006	a0001c0001t0001g0001 a0001c0002t0001g0180 a0001c0016t0001g0109 others(5): Show a0001c0001t0001g0001 a0001c0002t0001g0180 a0001c0016t0001g0109 a0002c0007t0005g0110 a0002c0037t0002g0360 a0003c0010t0005g0218 a0005c0020t0006g0073 a0005c0027t0006g0054	9	372	0.0242	94	c.100 others(111): Show c.100-1925_100-1924insGGGGGAGGGCAGTACCAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTG CAGTAGCTCACCTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202916	C C	CACATATA others(87): Show CACATATATGGGTATATATGTGTATATATACACATATATGTGTATATATG TGTATATATATGTGTATATATGTGTATATATACACATATATGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0072 a0006c0010t0006g0072	1	344	0.0029	94	c.88- others(111): Show c.88-35051_88-35050insCATATATGGGTATATATGTGTATATATA CACATATATGTGTATATATGTGTATATATATGTGTATATATGTGTATATA TACACATATATGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202916	C C	CACATATA others(87): Show CACATATATGTGTATATATGTGTATATATACACATATATGTGTATATATG TGTATATATATGTGTATATATGTGTATATATACACATATATGTGT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0168 a0002c0004t0001g0168	1	344	0.0029	94	c.88- others(111): Show c.88-35051_88-35050insCATATATGTGTATATATGTGTATATATA CACATATATGTGTATATATGTGTATATATATGTGTATATATGTGTATATA TACACATATATGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATG others(87): Show TATATATGTGTATATATGTGTATATATACATATATATACATATATGTGTA TATATACGTATATATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	344	0.0029	94	c.88- others(111): Show c.88-34934_88-34933insGTGTATATATACATATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(87): Show CATATATGTGTGTATATATGTGTATACATATATGTGTGTATATATGTGTA TACATATATGTGTGTATATATGTGTATACATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0132 a0004c0003t0004g0132	1	344	0.0029	94	c.88- others(111): Show c.88-34596_88-34595insGTATATATGTGTATACATATATGTGTGT ATATATGTGTATACATATATGTGTGTATATATGTGTATACATACATATAT GTGTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(87): Show TTATATATATGTATATATGTATATATTTATATATATGTATATATGTATAT ATTTATATATATGTATATATGTATATATATATGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0027 a0004c0004 a0008c0027	a0004c0004t0020 a0008c0027t0034 a0004c0004t0020 a0008c0027t0034	a0004c0004t0020g0217 a0008c0027t0034g0160 a0004c0004t0020g0217 a0008c0027t0034g0160	2	284	0.0070	94	c.328 others(113): Show c.3289+1507_3289+1508insTATACATATATACATATATATATACA TATATACATATATATAAATATATACATATATACATATATATAAATATATA CATATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981685	T T	TCTCCTCC others(87): Show TCTCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCGCCCCTCCCCTCCCCTC CCGCCCCGCCCCTCCCGCCCCCTCCCCCTCCCCCCTCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	128	0.0078	94	c.-16 others(103): Show c.-166_-165insCTCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCGCCC CTCCCCTCCCCTCCCGCCCCGCCCCTCCCGCCCCCTCCCCCTCCCCCCTC CCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		84		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988048	G G	GGGTCCAG others(87): Show GGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC TCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG02622.hp2 others(3): Show HG00280.hp2 HG01496.hp1 HG02622.hp2 HG03239.hp1 NA18906.hp1 NA20752.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0008 a0003c0004 a0005c0006 others(1): Show a0002c0008 a0003c0004 a0005c0006 a0005c0043	a0002c0008t0001 a0003c0004t0001 a0003c0004t0012 others(2): Show a0002c0008t0001 a0003c0004t0001 a0003c0004t0012 a0005c0006t0001 a0005c0043t0001	a0002c0008t0001g0112 a0003c0004t0001g0062 a0003c0004t0001g0095 others(3): Show a0002c0008t0001g0112 a0003c0004t0001g0062 a0003c0004t0001g0095 a0003c0004t0012g0064 a0005c0006t0001g0067 a0005c0043t0001g0068	6	128	0.0469	94	c.804 others(109): Show c.804+466_804+559dupAGTCCAGATGGAGGGGACGGCGTGGTCCAG ATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATG GAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988165	G G	GGGTCCAG others(87): Show GGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGA GTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0069 a0005c0006t0001g0069	1	128	0.0078	94	c.804 others(109): Show c.804+559_804+560insAGTCCAGATGGAGGGGACGGCGTGGTCCAG ATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATG GAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COLEC11_chr2_3590112_3649644	3605372	G G	GGGGAGTC others(87): Show GGGGAGTCACGTGGGTGCCGAGGAGGGGCGGGGAGTCATGTGGGTGCTGA GGAGGGGGAGGGGGGCAGCCACGTGGGTGCTGAGGAGGCGGGGGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	378	0.0027	94	c.130 others(109): Show c.130+905_130+906insAGTCACGTGGGTGCCGAGGAGGGGCGGGGA GTCATGTGGGTGCTGAGGAGGGGGAGGGGGGCAGCCACGTGGGTGCTGAG GAGGCGGGGGAGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3605430	G G	GGAGGGGA others(87): Show GGAGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGT GCCGAGGAGGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	378	0.0027	94	c.130 others(109): Show c.130+960_130+961insGAGGGGAGTCACGTGGGTGCCGAGGAGGGG GCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGCGGGGGAGTCACGTGGGT GCCGAGGAGGGGGC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6			chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(87): Show CCTCTCTCTCCCTCTCCTCTGTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 NA20752.hp2 HG01167.hp1 HG01169.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0339 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0339 a0001c0002t0001g0341 a0001c0002t0001g0342	3	350	0.0086	94	c.510 others(113): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTGTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCTCCT CTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAGGAAG others(87): Show GAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0278 a0003c0004t0001g0278	1	330	0.0030	94	c.735 others(109): Show c.735+442_735+443insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCCTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967863	T T	TTGTATAT others(87): Show TTGTATATATGTGCATATATACACACACGTGTGTATATATGTGCATATAT ACACACACGTGTGTATATATGTGCATATATACACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 NA19085.hp1 HG01070.hp2 HG01071.hp2 NA19085.hp1	a0020 a0028 a0020 a0028	a0020c0030 a0028c0029 a0020c0030 a0028c0029	a0020c0030t0001 a0028c0029t0001 a0020c0030t0001 a0028c0029t0001	a0020c0030t0001g0025 a0020c0030t0001g0026 a0028c0029t0001g0148 a0020c0030t0001g0025 a0020c0030t0001g0026 a0028c0029t0001g0148	3	278	0.0108	94	c.221 others(113): Show c.2213+3027_2213+3028insCACACATGTGTGTGTATATATGCACA TATATACACACGTGTGTGTATATATGCACATATATACACACGTGTGTGTA TATATGCACATATATACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16967894	T T	TGTGTATA others(87): Show TGTGTATATATGTGCATATATACACACACACGTGTGTATATATGTGCATA TATACACACACACGTGTGTATATATGTGCATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(5): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02976.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1	a0024 a0041 a0062 others(3): Show a0024 a0041 a0062 a0089 a0094 a0102	a0024c0011 a0041c0051 a0062c0144 others(3): Show a0024c0011 a0041c0051 a0062c0144 a0089c0084 a0094c0165 a0102c0083	a0024c0011t0001 a0041c0051t0001 a0062c0144t0002 others(3): Show a0024c0011t0001 a0041c0051t0001 a0062c0144t0002 a0089c0084t0001 a0094c0165t0001 a0102c0083t0001	a0024c0011t0001g0017 a0024c0011t0001g0020 a0024c0011t0001g0021 others(5): Show a0024c0011t0001g0017 a0024c0011t0001g0020 a0024c0011t0001g0021 a0041c0051t0001g0083 a0062c0144t0002g0015 a0089c0084t0001g0069 a0094c0165t0001g0013 a0102c0083t0001g0067	8	278	0.0288	94	c.221 others(113): Show c.2213+2996_2213+2997insGTGTGTGTGTATATATGCACATATAT ACACACGTGTGTGTGTATATATGCACATATATACACACGTGTGTGTGTAT ATATGCACATATATACAC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPEB3_chr10_92041692_92296078	92289780	T T	TATATGTA others(87): Show TATATGTATTATATATTATAAATGTATATATGTATTATATATTATAAATG TATTATATATTATATAATACATATGTATTATATATTATATAATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0265 a0001c0001t0011g0265	1	278	0.0036	94	c.-12 others(111): Show c.-12+1145_-12+1146insGTATTATATAATATATAATACATATGTA TTATATAATATATAATACATTTATAATATATAATACATATATACATTTAT AATATATAATACATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CRISP2_chr6_49687359_49718543	49701700	T T	TTATATAT others(87): Show TTATATATGTATACATTATATATGTATACATTATATATGTATACATTATA TATGTATACATTATATATGTATACATTATATATGTATACATTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0074 a0001c0002t0011g0074	1	410	0.0024	94	c.67- others(107): Show c.67-917_67-916insTATAATGTATACATATATAATGTATACATATA TAATGTATACATATATAATGTATACATATATAATGTATACATATATAATG TATACATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRKL_chr22_20912407_20958747	20955482	A A	ATTATATA others(87): Show ATTATATATATTTCTATATATGTATATATATATTTCTATATATATATATA TACTTTCTATATATATATATTTCTATATATATTATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0111 a0006c0007t0005g0111	1	370	0.0027	94	c.56 others(105): Show c.5637_*5638insTTATATATATTTCTATATATGTATATATATATTT CTATATATATATATATACTTTCTATATATATATATTTCTATATATATTAT ATATATATTT	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1736		chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647500	C C	CCACACCC others(87): Show CCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCACACCTTGTCCTCCTC CACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTCCACACCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0115 a0002c0002t0004g0115	1	276	0.0036	94	c.53 others(105): Show c.5360_*5361insCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCA CACCTTGTCCTCCTCCACACCCCTCCTCTGCCTCACCCCTCCTCCTCCTC CACACCCCTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2156		chr15	TogoVar
CSMD1_chr8_2930361_4999914	3411966	G G	GTATACGT others(87): Show GTATACGTGTATATACACGTATATATGTATACGTGTATATACACGTATAT ATACGTGTATATACACGTATATATACGTGTATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0089 a0002c0089	a0002c0089t0001 a0002c0089t0001	a0002c0089t0001g0037 a0002c0089t0001g0037	1	126	0.0079	94	c.156 others(113): Show c.1562-2362_1562-2361insTATATACGTGTATATACACGTATATA TACGTGTATATACACGTATATATACGTGTATATACACGTATACATATATA CGTGTATATACACGTATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312386	T T	TATATACA others(87): Show TATATACACACGTATATATATACGTATATACCTGTATATATACGTATATA TATACGTATATACGTACGCATATATATACACGTATATATATACGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0023 a0005c0065t0023	a0005c0065t0023g0050 a0005c0065t0023g0050	1	126	0.0079	94	c.415 others(115): Show c.415+107566_415+107567insGCGTATATATATACGTGTATATAT ATGCGTACGTATATACGTATATATATACGTATATATACAGGTATATACGT ATATATATACGTGTGTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar

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