Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
COG3_chr13_45459939_45541701	45513217	A A	ATACATAT others(43): Show ATACATATAATATATACATATAAATTATACATATAATATATACATATAAA T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG03490.hp2 HG02451.hp2 HG02970.hp1 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0244 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0244	3	342	0.0088	50	c.180 others(69): Show c.1809+1365_1809+1366insCATATAATATATACATATAAATTATA CATATAATATATACATATAAATTA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATTTAAATATATAT A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	370	0.0027	50	c.128 others(69): Show c.1284+6660_1284+6661insATATATATATATATTTAAATATATAT ATATATATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(43): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGA C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02015.hp1 NA18949.hp2 others(1): Show HG01978.hp2 HG02015.hp1 NA18949.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0003t0002g0130 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0003t0002g0130 a0001c0003t0002g0131	4	324	0.0124	50	c.294 others(67): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(43): Show AAAGCATATATATATATATATATATATATATATATATAAGCATATATATA T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02886.hp1 HG01261.hp2 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0002g0029 a0002c0006t0001g0028 a0001c0001t0002g0029 a0002c0006t0001g0028	2	218	0.0092	50	c.877 others(65): Show c.877+497_877+498insTATATATATATATATATATAAGCATATATA TATAAGCATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98941620	T T	TGCACTCC others(43): Show TGCACTCCATCCTGGGTGACAGAGCGGCACTCCATCCTGGGTGACAGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA18906.hp1 NA20905.hp2 HG04199.hp1 NA18906.hp1 NA20905.hp2	a0001 a0010 a0033 a0001 a0010 a0033	a0001c0001 a0010c0012 a0033c0038 a0001c0001 a0010c0012 a0033c0038	a0001c0001t0002 a0010c0012t0002 a0033c0038t0001 a0001c0001t0002 a0010c0012t0002 a0033c0038t0001	a0001c0001t0002g0022 a0010c0012t0002g0221 a0033c0038t0001g0028 a0001c0001t0002g0022 a0010c0012t0002g0221 a0033c0038t0001g0028	3	310	0.0097	50	c.-24 others(61): Show c.-2442_-2441insGCACTCCATCCTGGGTGACAGAGCGGCACTCCAT CCTGGGTGACAGAGCG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding		2286		chr9	TogoVar
COL18A1_chr21_45400165_45518720	45434036	G G	GTGTGTGA others(43): Show GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(70): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0010 a0011 a0012 a0018 a0019 a0020 a0028 a0031	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0035 a0001c0041 a0001c0063 a0001c0073 a0001c0079 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0001c0098 a0002c0020 a0002c0021 a0004c0023 a0004c0091 a0005c0036 a0010c0014 a0011c0040 a0011c0104 a0012c0088 a0018c0095 a0019c0096 a0020c0094 a0028c0097 a0031c0092	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(30): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0011t0001 a0001c0035t0001 a0001c0041t0001 a0001c0063t0001 a0001c0073t0003 a0001c0079t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0001c0098t0001 a0002c0020t0001 a0002c0021t0002 a0004c0023t0002 a0004c0091t0001 a0005c0036t0001 a0010c0014t0001 a0011c0040t0001 a0011c0104t0002 a0012c0088t0002 a0018c0095t0001 a0019c0096t0015 a0020c0094t0011 a0028c0097t0001 a0031c0092t0011	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(70): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0112 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0041t0001g0155 a0001c0063t0001g0144 a0001c0073t0003g0034 a0001c0079t0001g0042 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0001c0098t0001g0007 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0021t0002g0186 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0091t0001g0056 a0005c0036t0001g0245 a0005c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0012c0088t0002g0006 a0018c0095t0001g0146 a0019c0096t0015g0045 a0020c0094t0011g0075 a0028c0097t0001g0036 a0031c0092t0011g0190	73	292	0.2500	50	c.106 others(69): Show c.106+28612_106+28613insATGTGTGAGCAGGTGCATGGGCCAGG TGTGTGAGCAGGTGCATGGGCCAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45434036	G G	GTGTGTGA others(43): Show GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCGTGGGCCAG A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG03209.hp2 others(3): Show HG02572.hp1 HG02622.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0022 a0001c0038 a0008c0101 a0001c0022 a0001c0038 a0008c0101	a0001c0022t0001 a0001c0038t0004 a0008c0101t0005 a0001c0022t0001 a0001c0038t0004 a0008c0101t0005	a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 others(3): Show a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0038t0004g0028 a0001c0038t0004g0029 a0008c0101t0005g0027	6	292	0.0206	50	c.106 others(69): Show c.106+28603_106+28604insGTGGGCCAGATGTGTGAGCAGGTGCA TGGGCCAGGTGTGTGAGCAGGTGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45434086	G G	GTGTGTGA others(43): Show GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(14): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG01106.hp1 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02129.hp2 HG02135.hp1 HG03017.hp2 HG03942.hp2 NA18961.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0016	a0001c0003 a0001c0007 a0001c0053 others(5): Show a0001c0003 a0001c0007 a0001c0053 a0003c0010 a0006c0026 a0006c0072 a0007c0034 a0016c0042	a0001c0003t0001 a0001c0007t0002 a0001c0053t0001 others(6): Show a0001c0003t0001 a0001c0007t0002 a0001c0053t0001 a0003c0010t0002 a0003c0010t0006 a0006c0026t0001 a0006c0072t0002 a0007c0034t0001 a0016c0042t0001	a0001c0003t0001g0048 a0001c0003t0001g0085 a0001c0003t0001g0101 others(14): Show a0001c0003t0001g0048 a0001c0003t0001g0085 a0001c0003t0001g0101 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0261 a0001c0003t0001g0289 a0001c0007t0002g0161 a0001c0007t0002g0208 a0001c0053t0001g0244 a0003c0010t0002g0172 a0003c0010t0006g0014 a0006c0026t0001g0083 a0006c0072t0002g0082 a0007c0034t0001g0141 a0016c0042t0001g0118	17	292	0.0582	50	c.106 others(69): Show c.106+28649_106+28650insGTGCATGGGCCAGATGTGTGAGCAGG TGCATGGGCCAGGTGTGTGAGCAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45486137	C C	CCGGGCTC others(43): Show CCGGGCTCGCCTGCTTCTCACGGCTTTCGGACTAATAGAGTCACCGCAAT G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	292	0.0034	50	c.170 others(67): Show c.1702-722_1702-673dupGGGCTCGCCTGCTTCTCACGGCTTTCGG ACTAATAGAGTCACCGCAATGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098548	A A	AATATATA others(43): Show AATATATAAATATATATAAATATATAAATATATATATAAATATATATAAA T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0003g0037 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0003g0037	3	264	0.0114	50	c.181 others(69): Show c.1812+2923_1812+2924insATTTATATATATTTATATATATATTT ATATATTTATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(43): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02559.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0003 a0001c0016 a0002c0003	a0001c0016t0001 a0002c0003t0007 a0001c0016t0001 a0002c0003t0007	a0001c0016t0001g0132 a0002c0003t0007g0157 a0001c0016t0001g0132 a0002c0003t0007g0157	2	158	0.0127	50	c.355 others(67): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(43): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGG C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp1 HG01433.hp2 others(2): Show HG01070.hp2 HG01433.hp1 HG01433.hp2 HG02523.hp1 HG03098.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0032	a0001c0001t0001 a0001c0002t0007 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0007 a0002c0003t0001 a0004c0032t0001	a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0002t0007g0156 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0002t0007g0156 a0002c0003t0001g0112 a0004c0032t0001g0115	5	158	0.0317	50	c.355 others(67): Show c.3555+209_3555+210insGCCTTGCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(43): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGGCAAGG C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0079 a0005c0021t0001g0079	1	158	0.0063	50	c.355 others(67): Show c.3555+209_3555+210insGCCTTGCCTTGCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178523187	T T	TATATATA others(43): Show TATATATATACATATATATATATATATATACATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0112 a0002c0003t0002g0112	1	236	0.0042	50	c.361 others(69): Show c.361+37494_361+37495insGTGTATATATATATATATATGTATAT ATATATATATATATGTATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110253264	T T	TATATACA others(43): Show TATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02015.hp1 HG02055.hp2 others(16): Show HG01496.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02300.hp1 HG02735.hp1 HG02738.hp2 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18981.hp1 NA18984.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0032 a0001c0069 a0002c0002 a0002c0015 a0003c0012 a0003c0014 a0003c0105	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(9): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0019t0001 a0001c0032t0001 a0001c0069t0001 a0002c0002t0002 a0002c0015t0002 a0003c0012t0002 a0003c0014t0002 a0003c0105t0001	a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0089 others(16): Show a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0089 a0001c0003t0001g0054 a0001c0003t0001g0105 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0006t0001g0087 a0001c0010t0001g0127 a0001c0019t0001g0066 a0001c0032t0001g0108 a0001c0069t0001g0160 a0002c0002t0002g0331 a0002c0015t0002g0317 a0003c0012t0002g0307 a0003c0012t0002g0316 a0003c0014t0002g0332 a0003c0105t0001g0235	19	344	0.0552	50	c.85- others(67): Show c.85-10580_85-10531dupGTAATACATATAATTATATGTATATGTA ATACATATAATTATATGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253482	T T	TGTATTAC others(43): Show TGTATTACATATACATATAATTATATGTATTACATATACATATAATTATA C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0299	1	344	0.0029	50	c.85- others(67): Show c.85-10749_85-10748insGTATAATTATATGTATATGTAATACATA TAATTATATGTATATGTAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(43): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0179 a0003c0012t0001g0179	1	344	0.0029	50	c.85- others(67): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203688	T T	TATGTGTG others(43): Show TATGTGTGTATGTGTATATATACATATATGTGTGTGTATGTGTATATATA C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0046 a0002c0004t0008g0046	1	344	0.0029	50	c.88- others(67): Show c.88-34278_88-34277insGTGTGTATGTGTATATATACATATATGT GTGTGTATGTGTATATATACAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203763	A A	ATGTGTAT others(43): Show ATGTGTATATATACATATATGTGTGTATATGTGTATATATACATATATGT G	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18954.hp2 NA18959.hp1 HG03704.hp2 NA18954.hp2 NA18959.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0004 a0009c0008 a0001c0001 a0002c0004 a0009c0008	a0001c0001t0001 a0002c0004t0003 a0009c0008t0001 a0001c0001t0001 a0002c0004t0003 a0009c0008t0001	a0001c0001t0001g0131 a0002c0004t0003g0125 a0009c0008t0001g0077 a0001c0001t0001g0131 a0002c0004t0003g0125 a0009c0008t0001g0077	3	344	0.0087	50	c.88- others(67): Show c.88-34176_88-34175insGTGTATATATACATATATGTGTGTGTAT ATATACATATATGTGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0162 a0005c0005t0007g0162	1	344	0.0029	50	c.546 others(65): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATATATTTTTTTTT	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(43): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	344	0.0029	50	c.546 others(65): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	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(43): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0001 a0026c0049t0001	a0026c0049t0001g0272 a0026c0049t0001g0272	1	344	0.0029	50	c.546 others(65): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045967	T T	TTATATAT others(43): Show TTATATATATGTATATATGTATATATATGTATATATGTATATATATATGT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00621.hp1 others(56): Show HG00099.hp1 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02129.hp1 HG02132.hp2 HG02280.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02897.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18975.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19009.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA20752.hp2 NA20805.hp2	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0031 a0032	a0002c0002 a0002c0021 a0002c0058 others(7): Show a0002c0002 a0002c0021 a0002c0058 a0002c0059 a0002c0060 a0004c0004 a0006c0005 a0006c0035 a0031c0061 a0032c0057	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(13): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0026 a0002c0002t0027 a0002c0021t0002 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0004c0004t0002 a0006c0005t0004 a0006c0005t0009 a0006c0005t0013 a0006c0035t0036 a0031c0061t0002 a0032c0057t0002	a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(56): Show a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0151 a0002c0002t0002g0177 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0021t0002g0245 a0002c0021t0002g0246 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0004c0004t0002g0042 a0004c0004t0002g0075 a0004c0004t0002g0095 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0202 a0006c0005t0004g0148 a0006c0005t0009g0283 a0006c0005t0013g0154 a0006c0035t0036g0270 a0031c0061t0002g0021 a0032c0057t0002g0220	59	284	0.2078	50	c.328 others(69): Show c.3289+1507_3289+1508insTACATATATATATACATATATACATA TATATACATATATACATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(43): Show ATATATATATATGTATATATATATATATATATATATATATATATATATTT T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	269	0.0037	50	c.81+ others(67): Show c.81+33428_81+33429insATATATATATGTATATATATATATATAT ATATATATATATATATATTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134752314	A A	AGGAGGGA others(43): Show AGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCT T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG03195.hp1 others(1): Show HG02258.hp2 HG02451.hp2 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0008 a0001c0003t0007 a0001c0003t0032 others(1): Show a0001c0001t0008 a0001c0003t0007 a0001c0003t0032 a0001c0011t0007	a0001c0001t0008g0260 a0001c0003t0007g0003 a0001c0003t0032g0004 others(1): Show a0001c0001t0008g0260 a0001c0003t0007g0003 a0001c0003t0032g0004 a0001c0011t0007g0027	4	272	0.0147	50	c.166 others(67): Show c.1663-273_1663-224dupGAGGGATGGGGCCTATCCCCCAAGGGAG GAAACGGGGGCCCACTGGCTTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	13/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760074	G G	GCACACCC others(43): Show GCACACCCACGCACACACGCACACACCCACACACCCCCACTCATACATGC A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0149 a0001c0008t0001g0149	1	272	0.0037	50	c.193 others(69): Show c.1935+1783_1935+1784insCCACGCACACACGCACACACCCACAC ACCCCCACTCATACATGCACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(43): Show GACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18972.hp2 NA19006.hp2 HG01433.hp2 NA18972.hp2 NA19006.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0091 a0001c0001t0001g0111 a0006c0009t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0111 a0006c0009t0001g0027	3	248	0.0121	50	c.457 others(67): Show c.457-2218_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981694	G G	GGCCCCCG others(43): Show GGCCCCCGCCCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCGCCCCTCCCG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	128	0.0078	50	c.-15 others(59): Show c.-157_-156insGCCCCCGCCCCTCCCGCCCCTCCCCTCCCCTCCCGC CCCGCCCCTCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		75		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135315	A A	AAATGTCC others(43): Show AAATGTCCCCTCATGGTCCCAACACCAATGTCCCCTCATGGTCCCAACAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0051 a0014c0051	a0014c0051t0001 a0014c0051t0001	a0014c0051t0001g0225 a0014c0051t0001g0225	1	364	0.0028	50	c.27 others(61): Show c.2763_*2764insAATGTCCCCTCATGGTCCCAACACCAATGTCCCC TCATGGTCCCAACACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2468		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130636863	T T	TCCCCCTT others(43): Show TCCCCCTTCCTCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCC C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0029 a0006c0067t0029	a0006c0067t0029g0259 a0006c0067t0029g0259	1	264	0.0038	50	c.509 others(69): Show c.5091+1104_5091+1105insCCCTTCCTCCCCCCTTCCTCCCCTTC CCCTTCCTCCCCCCTTCCTCCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636863	T T	TCCCCTTC others(43): Show TCCCCTTCCTCCCCCCCTTCCTCCCCTTCCCCTTCCTCCCCCCTTCCTCC C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0003 a0024c0031t0003	a0024c0031t0003g0016 a0024c0031t0003g0016	1	264	0.0038	50	c.509 others(69): Show c.5091+1104_5091+1105insCCTTCCTCCCCCCCTTCCTCCCCTTC CCCTTCCTCCCCCCTTCCTCCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773815	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATTATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0257 a0001c0001t0011g0257	1	262	0.0038	50	c.-3- others(67): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT ATATATATATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATTATATA others(43): Show ATTATATATATATATATATATATATATATTATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0052 a0001c0001t0011g0052	1	262	0.0038	50	c.-3- others(67): Show c.-3-16841_-3-16840insATATATATATATATATATATATATATTA TATATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0018 a0005c0004t0003g0018	1	438	0.0023	50	c.-11 others(61): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02148.hp1 HG03195.hp1 HG01978.hp1 HG02148.hp1 HG03195.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0003 a0002c0002t0001 a0005c0004t0003	a0002c0002t0001g0006 a0005c0004t0003g0043 a0002c0002t0001g0006 a0005c0004t0003g0043	3	438	0.0069	50	c.-11 others(61): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA18950.hp2 NA18955.hp1 HG02559.hp2 NA18950.hp2 NA18955.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0019 a0002c0002t0001g0083 a0003c0005t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0083 a0003c0005t0001g0004	3	438	0.0069	50	c.-11 others(61): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0091 a0005c0004t0003g0091	1	438	0.0023	50	c.-11 others(61): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3590439	T T	TCCCCCCA others(43): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGAC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0199 a0002c0006t0001g0199	1	378	0.0027	50	c.-47 others(61): Show c.-4756_-4755insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTC GGGCGGGGGGCTGACC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4672		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590510	C C	CGGGGCGG others(43): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp1 others(22): Show HG00323.hp1 HG00621.hp2 HG00733.hp1 HG01123.hp1 HG02040.hp1 HG02074.hp1 HG02145.hp2 HG03669.hp2 HG04184.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0287 others(21): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0002c0004t0001g0289	25	378	0.0661	50	c.-46 others(61): Show c.-4685_-4684insGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGAT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4601		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3590664	A A	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02572.hp1 HG02572.hp2 others(4): Show HG01192.hp1 HG02572.hp1 HG02572.hp2 HG02922.hp2 HG03209.hp1 HG03831.hp2 NA18948.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0012 a0001c0001 a0002c0002 a0003c0012	a0001c0001t0001 a0002c0002t0001 a0003c0012t0001 a0001c0001t0001 a0002c0002t0001 a0003c0012t0001	a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 others(4): Show a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0003c0012t0001g0358	7	378	0.0185	50	c.-45 others(61): Show c.-4531_-4530insTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4447		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(43): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	350	0.0029	50	c.510 others(69): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158445	C C	CTCTCCTC others(43): Show CTCTCCTCCCTCTCCTCTCCTCCTCCCTCTCTCCTCTCTCCTCTCTCCTC T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	350	0.0029	50	c.510 others(69): Show c.510+24267_510+24268insTCTCCTCCCTCTCCTCTCCTCCTCCC TCTCTCCTCTCTCCTCTCTCCTCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158496	C C	CTCCCTCT others(43): Show CTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCCCCC T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	350	0.0029	50	c.510 others(69): Show c.510+24318_510+24319insTCCCTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCCCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(43): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 NA18964.hp2 NA19088.hp2 HG02738.hp2 NA18964.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0217 a0001c0001t0003g0319 a0001c0001t0005g0143 a0001c0001t0003g0217 a0001c0001t0003g0319 a0001c0001t0005g0143	3	448	0.0067	50	c.44 others(61): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAAAGA others(43): Show GAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(1): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0261 a0002c0003t0001g0005 a0002c0003t0001g0261	4	330	0.0121	50	c.735 others(65): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTCTTTCTTTCTTTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COPG1_chr3_129244606_129282773	129247226	G G	GTATATGT others(43): Show GTATATGTATATATATGTGTGTGTATATATATATATATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0010 a0002c0005t0002g0010	1	326	0.0031	50	c.-24 others(61): Show c.-2484_-2483insTATATGTATATATATGTGTGTGTATATATATATA TATATATATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2379		chr3	TogoVar
COX4I1_chr16_85794695_85812068	85795075	T T	TATCCCAT others(43): Show TATCCCATAGTCGGAACAGAAGTGTTTAACTCTGTCAAGTACTGCATTCA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG04184.hp2 HG03688.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	432	0.0046	50	c.-46 others(61): Show c.-4679_-4678insATCCCATAGTCGGAACAGAAGTGTTTAACTCTGT CAAGTACTGCATTCAC	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding		4619		chr16	TogoVar
COX7B2_chr4_46729827_46914245	46763017	T T	TATATAAT others(43): Show TATATAATATAATATAATATATATTATATATTATAATATGTAATATATAT A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	300	0.0033	50	c.-49 others(69): Show c.-49-27777_-49-27776insTATATATATTACATATTATAATATAT AATATATATTATATTATATTATAT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPLX1_chr4_779957_831129	825979	G G	GCCGGGGC others(43): Show GCCGGGGCCGGCGGGGAGAAGCGGGGAGAAGCCGGGGCCGGGGAGGAGAA A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	416	0.0024	50	c.-80 others(63): Show c.-80+66_-80+67insTTTCTCCTCCCCGGCCCCGGCTTCTCCCCGCT TCTCCCCGCCGGCCCCGG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	1/3			chr4	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0007 a0003c0012t0007	a0003c0012t0007g0334 a0003c0012t0007g0334	1	340	0.0029	50	c.92 others(61): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar

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