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
COL1A2_chr7_94389895_94436227	94415772	AGAACCAA others(18): Show AGAACCAACTTATAACAAGGTCCTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	436	0.0023	-25	c.176 others(42): Show c.1764+506_1764+530delCCAACTTATAACAAGGTCCTTTGAA	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	30/51		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL21A1_chr6_56051590_56252580	56087061	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(16): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG02572.hp1 HG02572.hp2 HG03942.hp2 NA18522.hp1 NA18939.hp2 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2 NA19043.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0001 a0001c0002 a0001c0014 others(5): Show a0001c0001 a0001c0002 a0001c0014 a0001c0024 a0003c0005 a0003c0006 a0006c0011 a0009c0012	a0001c0001t0014 a0001c0002t0002 a0001c0014t0010 others(6): Show a0001c0001t0014 a0001c0002t0002 a0001c0014t0010 a0001c0024t0022 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007 a0006c0011t0004 a0009c0012t0004	a0001c0001t0014g0087 a0001c0002t0002g0196 a0001c0014t0010g0010 others(16): Show a0001c0001t0014g0087 a0001c0002t0002g0196 a0001c0014t0010g0010 a0001c0024t0022g0147 a0003c0005t0007g0119 a0003c0005t0007g0121 a0003c0005t0007g0199 a0003c0005t0007g0201 a0003c0005t0007g0202 a0003c0005t0007g0250 a0003c0005t0014g0035 a0003c0006t0007g0198 a0003c0006t0007g0200 a0003c0006t0007g0203 a0003c0006t0007g0204 a0003c0006t0007g0205 a0006c0011t0004g0090 a0006c0011t0004g0091 a0009c0012t0004g0030	19	33	0.5758	-25	c.181 others(44): Show c.1813-9513_1813-9489delCAAAACAAAACAAAACAAAACAAAA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138600404	CGTCTCTA others(18): Show CGTCTCTAACATACGCACTTAAATGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG02486.hp1 others(4): Show HG00639.hp1 HG00741.hp1 HG02486.hp1 HG02723.hp2 HG03209.hp1 HG03209.hp2 NA18906.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0010 a0001c0012 a0002c0009 others(2): Show a0001c0010 a0001c0012 a0002c0009 a0002c0022 a0015c0055	a0001c0010t0001 a0001c0012t0005 a0002c0009t0001 others(3): Show a0001c0010t0001 a0001c0012t0005 a0002c0009t0001 a0002c0009t0002 a0002c0022t0001 a0015c0055t0005	a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0012t0005g0143 others(4): Show a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0012t0005g0143 a0002c0009t0001g0105 a0002c0009t0002g0095 a0002c0022t0001g0041 a0015c0055t0005g0150	7	156	0.0449	-25	c.418 others(44): Show c.4186-1531_4186-1507delTCATTTAAGTGCGTATGTTAGAGAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	60/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178547819	ACCCACCT others(18): Show ACCCACCTACACACCCCCACACCCAC	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	236	0.0042	-25	c.361 others(44): Show c.361+12838_361+12862delGTGGGTGTGGGGGTGTGTAGGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL27A1_chr9_114150537_114317511	114155089	CTGGGAGC others(18): Show CTGGGAGCGCAAACTTTTGGTGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02559.hp1 others(4): Show HG01256.hp2 HG01258.hp2 HG02559.hp1 HG02615.hp1 HG02896.hp2 HG02976.hp1 HG03688.hp2	a0005 a0009 a0020 a0005 a0009 a0020	a0005c0028 a0005c0030 a0005c0062 others(3): Show a0005c0028 a0005c0030 a0005c0062 a0005c0063 a0009c0007 a0020c0027	a0005c0028t0004 a0005c0030t0001 a0005c0062t0002 others(3): Show a0005c0028t0004 a0005c0030t0001 a0005c0062t0002 a0005c0063t0001 a0009c0007t0008 a0020c0027t0005	a0005c0028t0004g0014 a0005c0030t0001g0019 a0005c0062t0002g0015 others(4): Show a0005c0028t0004g0014 a0005c0030t0001g0019 a0005c0062t0002g0015 a0005c0063t0001g0011 a0009c0007t0008g0016 a0020c0027t0005g0017 a0020c0027t0005g0018	7	306	0.0229	-25	c.-86 others(34): Show c.-861_-837delTGGGAGCGCAAACTTTTGGTGGGCG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding		447		chr9	TogoVar
COL4A1_chr13_110143963_110312157	110253264	TATATACA others(18): Show TATATACATATAATTATATGTATTAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0189 a0003c0009t0001g0189	1	277	0.0036	-25	c.85- others(42): Show c.85-10555_85-10531delGTAATACATATAATTATATGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227089654	TAATATAT others(18): Show TAATATATAAGACACAAGGCTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 NA19011.hp1 others(1): Show HG00140.hp1 HG00609.hp1 NA19011.hp1 NA19082.hp2	a0003 a0009 a0014 a0003 a0009 a0014	a0003c0003 a0003c0027 a0009c0009 others(1): Show a0003c0003 a0003c0027 a0009c0009 a0014c0024	a0003c0003t0003 a0003c0027t0003 a0009c0009t0001 others(1): Show a0003c0003t0003 a0003c0027t0003 a0009c0009t0001 a0014c0024t0012	a0003c0003t0003g0232 a0003c0027t0003g0097 a0009c0009t0001g0084 others(1): Show a0003c0003t0003g0232 a0003c0027t0003g0097 a0009c0009t0001g0084 a0014c0024t0012g0225	4	252	0.0159	-25	c.145 others(42): Show c.1459+189_1459+213delTATAAAGCCTTGTGTCTTATATATT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134669212	TTTCCCTT others(18): Show TTTCCCTTCCCTTCCCTTCCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(28): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG01074.hp2 HG01243.hp1 HG01257.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG03471.hp1 HG03486.hp1 HG03710.hp1 HG06807.hp1 NA18943.hp1 NA18950.hp2 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp2 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0001c0027 a0002c0017 a0007c0037 a0013c0055	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(19): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0036 a0001c0004t0002 a0001c0004t0033 a0001c0005t0009 a0001c0005t0045 a0001c0009t0001 a0001c0015t0002 a0001c0027t0001 a0002c0017t0003 a0007c0037t0001 a0013c0055t0007	a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0005g0056 others(28): Show a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0005g0056 a0001c0001t0005g0119 a0001c0001t0008g0260 a0001c0001t0037g0054 a0001c0002t0001g0051 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0002g0057 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0005g0050 a0001c0002t0016g0237 a0001c0003t0001g0123 a0001c0003t0001g0222 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0003t0036g0052 a0001c0004t0002g0046 a0001c0004t0002g0053 a0001c0004t0002g0132 a0001c0004t0033g0131 a0001c0005t0009g0256 a0001c0005t0045g0267 a0001c0009t0001g0198 a0001c0015t0002g0055 a0001c0027t0001g0130 a0002c0017t0003g0118 a0007c0037t0001g0058 a0013c0055t0007g0257	31	234	0.1325	-25	c.110 others(44): Show c.110-21677_110-21653delTCCTTCCCTTCCCTTCCCTTCCCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134808595	GTGTGCAC others(18): Show GTGTGCACATGCGAGTATGCTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	270	0.0037	-25	c.336 others(42): Show c.3367-576_3367-552delGAGTATGCTTGTTTTGTGCACATGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	42/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0008 a0008	a0008c0004 a0008c0004	a0008c0004t0001 a0008c0004t0001	a0008c0004t0001g0030 a0008c0004t0001g0030	1	13	0.0769	-25	c.478 others(44): Show c.4782+1435_4782+1459delTTTTTTTTTTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45987792	GGGTCCAG others(18): Show GGGTCCAGATGGAGGGGACGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01934.hp1 HG01981.hp1 others(5): Show HG01123.hp1 HG01934.hp1 HG01981.hp1 HG02015.hp2 HG02148.hp1 HG02165.hp1 HG03492.hp2 NA18612.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0016 a0004c0005t0001 a0001c0001t0002 a0001c0001t0016 a0004c0005t0001	a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0091 others(5): Show a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0016g0101 a0004c0005t0001g0040 a0004c0005t0001g0047	8	125	0.0640	-25	c.804 others(40): Show c.804+140_804+164delGTCCAGATGGAGGGGACGGCGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987978	GGCTCCAG others(18): Show GGCTCCAGATGGAGGGGACGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0060 a0005c0023t0001g0060	1	125	0.0080	-25	c.804 others(40): Show c.804+326_804+350delCTCCAGATGGAGGGGACGGCGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135434	AAATGTCC others(18): Show AAATGTCCCCTCATGGTCCTAACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0013 a0001c0007 a0002c0013	a0001c0007t0003 a0002c0013t0003 a0001c0007t0003 a0002c0013t0003	a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(4): Show a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 a0002c0013t0003g0068 a0002c0013t0003g0070	7	362	0.0193	-25	c.28 others(36): Show c.2883_*2907delAATGTCCCCTCATGGTCCTAACACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2587		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135590	GGTCCCAA others(18): Show GGTCCCAACACCAATGCCCCCTCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(5): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0011 a0001c0009t0001 a0001c0001t0011 a0001c0009t0001	a0001c0001t0011g0332 a0001c0009t0001g0022 a0001c0009t0001g0252 others(4): Show a0001c0001t0011g0332 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333	8	293	0.0273	-25	c.30 others(36): Show c.3039_*3063delGTCCCAACACCAATGCCCCCTCACC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2743		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18986.hp1 NA19003.hp1 others(3): Show HG03831.hp2 NA18986.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0001 a0002c0022t0001 a0002c0001t0001 a0002c0022t0001	a0002c0001t0001g0196 a0002c0001t0001g0241 a0002c0001t0001g0244 others(3): Show a0002c0001t0001g0196 a0002c0001t0001g0241 a0002c0001t0001g0244 a0002c0001t0001g0246 a0002c0001t0001g0257 a0002c0022t0001g0027	6	46	0.1304	-25	c.766 others(42): Show c.7668+811_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237346665	GACTCCAT others(18): Show GACTCCATCACCACGAAAAATCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02809.hp2 HG01081.hp2 HG02809.hp2	a0019 a0047 a0019 a0047	a0019c0035 a0047c0128 a0019c0035 a0047c0128	a0019c0035t0001 a0047c0128t0003 a0019c0035t0001 a0047c0128t0003	a0019c0035t0001g0162 a0047c0128t0003g0010 a0019c0035t0001g0162 a0047c0128t0003g0010	2	320	0.0063	-25	c.703 others(42): Show c.7030-125_7030-101delGAGAGATTTTTCGTGGTGATGGAGT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	31/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362304	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03491.hp2 HG03834.hp1 others(1): Show HG01081.hp1 HG03491.hp2 HG03834.hp1 NA19240.hp1	a0008 a0028 a0079 others(1): Show a0008 a0028 a0079 a0090	a0008c0010 a0028c0029 a0079c0054 others(1): Show a0008c0010 a0028c0029 a0079c0054 a0090c0065	a0008c0010t0001 a0028c0029t0001 a0079c0054t0001 others(1): Show a0008c0010t0001 a0028c0029t0001 a0079c0054t0001 a0090c0065t0001	a0008c0010t0001g0167 a0028c0029t0001g0099 a0079c0054t0001g0158 others(1): Show a0008c0010t0001g0167 a0028c0029t0001g0099 a0079c0054t0001g0158 a0090c0065t0001g0159	4	267	0.0150	-25	c.-28 others(44): Show c.-28-11305_-28-11281delATATATATATATATATATATATTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362306	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(71): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG02572.hp1 HG02735.hp1 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0002 a0003 a0004 others(25): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0013 a0014 a0015 a0016 a0017 a0020 a0024 a0025 a0031 a0036 a0039 a0043 a0044 a0051 a0053 a0060 a0068 a0072 a0083 a0085 a0088	a0002c0002 a0002c0035 a0003c0004 others(29): Show a0002c0002 a0002c0035 a0003c0004 a0003c0026 a0004c0003 a0005c0006 a0006c0005 a0008c0010 a0008c0027 a0009c0007 a0013c0016 a0013c0075 a0014c0013 a0015c0015 a0016c0017 a0017c0020 a0020c0040 a0024c0022 a0025c0097 a0031c0034 a0036c0041 a0039c0036 a0043c0058 a0044c0069 a0051c0049 a0053c0057 a0060c0077 a0068c0076 a0072c0053 a0083c0050 a0085c0048 a0088c0051	a0002c0002t0001 a0002c0035t0001 a0003c0004t0001 others(32): Show a0002c0002t0001 a0002c0035t0001 a0003c0004t0001 a0003c0026t0001 a0004c0003t0001 a0005c0006t0008 a0006c0005t0001 a0008c0010t0001 a0008c0027t0009 a0009c0007t0001 a0009c0007t0009 a0013c0016t0001 a0013c0075t0016 a0014c0013t0001 a0015c0015t0001 a0015c0015t0002 a0015c0015t0009 a0016c0017t0001 a0017c0020t0001 a0020c0040t0001 a0024c0022t0001 a0025c0097t0001 a0031c0034t0008 a0036c0041t0001 a0039c0036t0001 a0043c0058t0001 a0044c0069t0001 a0051c0049t0001 a0053c0057t0008 a0060c0077t0001 a0068c0076t0001 a0072c0053t0001 a0083c0050t0001 a0085c0048t0001 a0088c0051t0001	a0002c0002t0001g0006 a0002c0002t0001g0103 a0002c0002t0001g0121 others(69): Show a0002c0002t0001g0006 a0002c0002t0001g0103 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0150 a0002c0002t0001g0207 a0002c0035t0001g0154 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0093 a0003c0004t0001g0147 a0003c0004t0001g0151 a0003c0004t0001g0177 a0003c0026t0001g0124 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0138 a0005c0006t0008g0186 a0006c0005t0001g0025 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0027t0009g0162 a0008c0027t0009g0163 a0009c0007t0001g0105 a0009c0007t0001g0136 a0009c0007t0001g0140 a0009c0007t0001g0161 a0009c0007t0001g0165 a0009c0007t0001g0168 a0009c0007t0009g0164 a0013c0016t0001g0144 a0013c0075t0016g0016 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0015c0015t0001g0007 a0015c0015t0001g0125 a0015c0015t0002g0222 a0015c0015t0009g0166 a0016c0017t0001g0153 a0017c0020t0001g0169 a0017c0020t0001g0269 a0017c0020t0001g0271 a0020c0040t0001g0122 a0020c0040t0001g0139 a0024c0022t0001g0152 a0025c0097t0001g0135 a0031c0034t0008g0171 a0031c0034t0008g0172 a0036c0041t0001g0175 a0036c0041t0001g0176 a0039c0036t0001g0213 a0039c0036t0001g0214 a0043c0058t0001g0028 a0044c0069t0001g0134 a0051c0049t0001g0126 a0053c0057t0008g0185 a0060c0077t0001g0174 a0068c0076t0001g0270 a0072c0053t0001g0173 a0083c0050t0001g0132 a0085c0048t0001g0029 a0088c0051t0001g0137	74	263	0.2814	-25	c.-28 others(44): Show c.-28-11303_-28-11279delATATATATATATATATATATTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362308	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0098 a0014c0013t0001g0098	1	265	0.0038	-25	c.-28 others(44): Show c.-28-11301_-28-11277delATATATATATATATATATTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362310	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0073 a0073	a0073c0052 a0073c0052	a0073c0052t0003 a0073c0052t0003	a0073c0052t0003g0015 a0073c0052t0003g0015	1	222	0.0045	-25	c.-28 others(44): Show c.-28-11299_-28-11275delATATATATATATATATTTTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130441544	CATTGAAC others(18): Show CATTGAACAGGATGTATCAGTCTGCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp1 HG03453.hp2 others(1): Show HG00735.hp2 HG03041.hp1 HG03453.hp2 NA19240.hp1	a0039 a0046 a0090 a0039 a0046 a0090	a0039c0036 a0046c0104 a0090c0065 a0039c0036 a0046c0104 a0090c0065	a0039c0036t0001 a0046c0104t0006 a0090c0065t0001 a0039c0036t0001 a0046c0104t0006 a0090c0065t0001	a0039c0036t0001g0213 a0039c0036t0001g0214 a0046c0104t0006g0210 others(1): Show a0039c0036t0001g0213 a0039c0036t0001g0214 a0046c0104t0006g0210 a0090c0065t0001g0159	4	290	0.0138	-25	c.648 others(42): Show c.6487+721_6487+745delTTGAACAGGATGTATCAGTCTGCAA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	35/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19077.hp1 HG00597.hp2 NA19077.hp1	a0018 a0018	a0018c0024 a0018c0024	a0018c0024t0005 a0018c0024t0018 a0018c0024t0005 a0018c0024t0018	a0018c0024t0005g0037 a0018c0024t0018g0097 a0018c0024t0005g0037 a0018c0024t0018g0097	2	231	0.0087	-25	c.421 others(42): Show c.4219-746_4219-722delATATATTTTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36110499	TTCTCACC others(18): Show TTCTCACCCAAGCTGGAGTGCAGTGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(14): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA18906.hp1 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0001c0001t0004 a0009c0021t0004 a0001c0001t0001 a0001c0001t0004 a0009c0021t0004	a0001c0001t0001g0308 a0001c0001t0004g0011 a0001c0001t0004g0013 others(11): Show a0001c0001t0001g0308 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0062 a0001c0001t0004g0102 a0001c0001t0004g0109 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0009c0021t0004g0032	17	388	0.0438	-25	c.-17 others(42): Show c.-17+5184_-17+5208delTCACTGCACTCCAGCTTGGGTGAGA	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3			chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069618	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0083 a0001c0006t0001g0083	1	386	0.0026	-25	c.148 others(42): Show c.148+2191_148+2215delAAAAAAAAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3618491	TTATTTCT others(18): Show TTATTTCTGTGCTTTCTTCTCTGCTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	376	0.0027	-25	c.202 others(42): Show c.202+5114_202+5138delTCTGTGCTTTCTTCTCTGCTCTATT	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	419148	CTTCTATT others(18): Show CTTCTATTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp2 HG02451.hp2 others(9): Show HG01192.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp2 HG03471.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0001 others(1): Show a0001c0003 a0001c0005 a0002c0001 a0003c0002	a0001c0003t0006 a0001c0005t0072 a0001c0005t0118 others(9): Show a0001c0003t0006 a0001c0005t0072 a0001c0005t0118 a0002c0001t0164 a0002c0001t0165 a0002c0001t0211 a0003c0002t0006 a0003c0002t0034 a0003c0002t0094 a0003c0002t0163 a0003c0002t0170 a0003c0002t0174	a0001c0003t0006g0165 a0001c0005t0072g0202 a0001c0005t0118g0245 others(9): Show a0001c0003t0006g0165 a0001c0005t0072g0202 a0001c0005t0118g0245 a0002c0001t0164g0140 a0002c0001t0165g0134 a0002c0001t0211g0360 a0003c0002t0006g0306 a0003c0002t0034g0344 a0003c0002t0094g0024 a0003c0002t0163g0330 a0003c0002t0170g0333 a0003c0002t0174g0187	12	78	0.1538	-25	c.58+ others(42): Show c.58+61534_58+61558delTAGAATAGAATAGAATAGAATAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(18): Show GTCTCCCCTCTCCTCCCCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18522.hp2 HG02165.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0085 a0002c0003t0001g0059 a0001c0001t0001g0085 a0002c0003t0001g0059	2	314	0.0064	-25	c.510 others(44): Show c.510+24114_510+24138delCTCCCCTCTCTCCCTCTCCCCTCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMTD1_chr10_75228641_75240957	75233423	GACGGCAG others(18): Show GACGGCAGGATACTCAAGTCAACCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01433.hp2 others(13): Show HG00642.hp2 HG01074.hp2 HG01433.hp2 HG02451.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA18973.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0005c0008t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0002 a0005c0008t0001g0016	16	408	0.0392	-25	c.62 others(34): Show c.625_*649delGGGGTTGACTTGAGTATCCTGCCGT	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		217		chr10	TogoVar
COMT_chr22_19936772_19974975	19966189	CGCACATC others(18): Show CGCACATCTGCACACTCAGGGCTGGG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0332 a0001c0002t0001g0332	1	424	0.0024	-25	c.615 others(42): Show c.615+1893_615+1917delACATCTGCACACTCAGGGCTGGGGC	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COPG2_chr7_130501238_130673748	130631193	ATGGAGAC others(18): Show ATGGAGACTTGCTCTGTCACCCAGGC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19081.hp2 NA18944.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0183 a0001c0001t0002g0159 a0001c0001t0002g0183	2	324	0.0062	-25	c.324 others(44): Show c.324-14153_324-14129delGCCTGGGTGACAGAGCAAGTCTCCA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPS5_chr8_67038079_67067133	67043126	TCAGAGCA others(18): Show TCAGAGCACCTTATACTTCTAATCAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	290	0.0034	-25	c.82 others(33): Show c.82_*106delCTGATTAGAAGTATAAGGTGCTCTG	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	8/8	82		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056649	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	279	0.0036	-25	c.574 others(38): Show c.574-70_574-46delATATATATATATATATATATATTTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056651	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	260	0.0038	-25	c.574 others(38): Show c.574-72_574-48delATATATATATATATATATATATATT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02622.hp2 HG02896.hp2 others(5): Show HG00099.hp1 HG02622.hp2 HG02896.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1 NA18964.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0101 a0001c0002t0001g0023	8	226	0.0354	-25	c.574 others(38): Show c.574-74_574-50delATATATATATATATATATATATATA	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COQ3_chr6_99364401_99399195	99394632	CACCTCAA others(18): Show CACCTCAAACCTCATGTTCGAAGTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00609.hp1 others(46): Show HG00140.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02071.hp2 HG02074.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp1 NA18994.hp2 NA19003.hp1 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19086.hp1 NA19091.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0141 others(31): Show a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0162 a0002c0002t0001g0039 a0002c0002t0001g0149 a0002c0002t0001g0158 a0003c0003t0003g0003 a0003c0003t0003g0010 a0003c0003t0003g0018 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0136 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0150 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0153 a0003c0003t0003g0155 a0003c0003t0003g0156 a0003c0003t0003g0157	49	432	0.1134	-25	c.-47 others(34): Show c.-478_-454delCAACTTCGAACATGAGGTTTGAGGT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding		438		chr6	TogoVar
CORO2B_chr15_68573993_68732806	68639779	TTCAAAAC others(18): Show TTCAAAACCAATCTTGAAAACCAATC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0238 a0001c0001t0009g0238	1	254	0.0039	-25	c.16- others(40): Show c.16-5369_16-5345delCTTGAAAACCAATCTCAAAACCAAT	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02257.hp1 others(20): Show HG01496.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0027 a0001c0002t0006 a0001c0003t0001 a0001c0003t0011 a0001c0004t0005 a0001c0004t0006 a0003c0007t0006	a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0002g0022 others(20): Show a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0004g0019 a0001c0001t0004g0240 a0001c0001t0005g0046 a0001c0001t0006g0053 a0001c0001t0006g0191 a0001c0001t0006g0236 a0001c0001t0008g0025 a0001c0001t0011g0075 a0001c0001t0018g0255 a0001c0001t0022g0049 a0001c0001t0027g0034 a0001c0002t0006g0137 a0001c0002t0006g0248 a0001c0003t0001g0057 a0001c0003t0011g0247 a0001c0004t0005g0003 a0001c0004t0006g0032 a0003c0007t0006g0186	23	111	0.2072	-25	c.216 others(42): Show c.216+5022_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAA	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
COX10_chr17_14064504_14213677	14210395	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp2 others(1): Show HG00280.hp2 HG01070.hp1 HG01071.hp2 HG01516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0011 a0001c0004 a0002c0002 a0003c0011	a0001c0004t0014 a0002c0002t0002 a0003c0011t0001 a0001c0004t0014 a0002c0002t0002 a0003c0011t0001	a0001c0004t0014g0127 a0001c0004t0014g0151 a0002c0002t0002g0252 others(1): Show a0001c0004t0014g0127 a0001c0004t0014g0151 a0002c0002t0002g0252 a0003c0011t0001g0040	4	115	0.0348	-25	c.31 others(36): Show c.3183_*3207delTTTTTTTTTTTTTTTTTTTTTTTTT	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding		1719		chr17	TogoVar
COX4I1_chr16_85794695_85812068	85808962	GTGGAAAG others(18): Show GTGGAAAGAGAGGGAGAGGGAGACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19084.hp2 NA19002.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	430	0.0047	-25	c.20 others(36): Show c.2089_*2113delTGGAAAGAGAGGGAGAGGGAGACCA	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding		1895		chr16	TogoVar
COX7B2_chr4_46729827_46914245	46759777	TTATCTTA others(18): Show TTATCTTATATAAGTTATATAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02145.hp2 HG03098.hp2 others(1): Show HG01257.hp2 HG02145.hp2 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0190 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0190 a0001c0001t0001g0215	4	293	0.0137	-25	c.-49 others(44): Show c.-49-24561_-49-24537delTGACTTATATAACTTATATAAGATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA6_chr8_67417038_67751360	67475801	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02723.hp2 NA19077.hp1 others(1): Show HG00735.hp2 HG02723.hp2 NA19077.hp1 NA19077.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0087 a0001c0001t0002g0095 a0002c0002t0001g0020 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0095 a0002c0002t0001g0020 a0004c0005t0001g0056	4	138	0.0290	-25	c.838 others(42): Show c.838+7942_838+7966delAAAAGAAAGGAAAGAAAGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475805	CTTTCTTT others(18): Show CTTTCTTTCTTTCCTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03471.hp2 NA18991.hp1 HG01261.hp2 HG03471.hp2 NA18991.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0007 a0002c0002 a0009c0007	a0002c0002t0001 a0009c0007t0001 a0002c0002t0001 a0009c0007t0001	a0002c0002t0001g0060 a0002c0002t0001g0078 a0009c0007t0001g0132 a0002c0002t0001g0060 a0002c0002t0001g0078 a0009c0007t0001g0132	3	120	0.0250	-25	c.838 others(42): Show c.838+7938_838+7962delAAAGAAAAGAAAGGAAAGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67475809	CTTTCTTT others(18): Show CTTTCTTTCCTTTCTTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	140	0.0071	-25	c.838 others(42): Show c.838+7934_838+7958delAAAGAAAGAAAAGAAAGGAAAGAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPEB1_chr15_82538201_82652363	82579918	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02293.hp1 NA18998.hp1 others(1): Show HG01952.hp1 HG02293.hp1 NA18998.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0035 a0002c0002t0003g0039 a0002c0002t0003g0079 others(1): Show a0002c0002t0003g0035 a0002c0002t0003g0039 a0002c0002t0003g0079 a0002c0002t0007g0047	4	16	0.2500	-25	c.272 others(42): Show c.272-8411_272-8387delTTTTTTTTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92098160	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0227 a0001c0003t0012g0227	1	13	0.0769	-25	c.157 others(44): Show c.1573-6241_1573-6217delTTTTTTTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	120997927	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp1 NA18906.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0001 a0001c0007t0006	a0001c0001t0001g0114 a0001c0007t0001g0113 a0001c0007t0006g0112 a0001c0001t0001g0114 a0001c0007t0001g0113 a0001c0007t0006g0112	3	37	0.0811	-25	c.249 others(42): Show c.249+8087_249+8111delTAAAATAAAATAAAATAAAATAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE2_chr16_57087583_57153369	57149838	CTTGTCTA others(18): Show CTTGTCTAAACTCTTGTCTAAAGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	356	0.0028	-25	c.21 others(36): Show c.2181_*2205delTTGTCTAAACTCTTGTCTAAAGAGT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding		1470		chr16	TogoVar
CPNE4_chr3_131528569_132040014	131547455	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	26	0.0385	-25	c.130 others(44): Show c.1302+2467_1302+2491delTTTTTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19007.hp1 NA19240.hp2 HG02895.hp1 NA19007.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0003t0003g0062 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0003t0003g0062	3	12	0.2500	-25	c.180 others(44): Show c.180+90667_180+90691delAAAAAAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131951544	AGTCTCCC others(18): Show AGTCTCCCTCTCCCTCTCTTTCCACG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0052 a0001c0001t0001g0054	2	92	0.0217	-25	c.-1- others(42): Show c.-1-46125_-1-46101delCGTGGAAAGAGAGGGAGAGGGAGAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar

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