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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(41): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0105 a0001c0007t0016g0105	1	85	0.0118	-48	c.-14 others(69): Show c.-144-51467_-144-51420delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGA		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721776	TCTATATA others(41): Show TCTATATATAGTCTACATATATAGACTATATATAGTCTATATATGTAGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	40	0.0250	-48	c.98- others(65): Show c.98-52480_98-52433delCATATATAGACTATATATAGTCTATATA TGTAGACTATATATAGTCTA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147618664	TATATATA others(41): Show TATATATAATAACAGCTATTATATATATATAATAACAGCTATTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG03139.hp1 others(4): Show HG02896.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0004c0020	a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 others(4): Show a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 a0001c0009t0019 a0001c0011t0016 a0001c0013t0003 a0004c0020t0005	a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 others(4): Show a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0011t0016g0019 a0001c0013t0003g0039 a0004c0020t0005g0016	7	40	0.1750	-48	c.189 others(69): Show c.1898-20440_1898-20393delTATATAATAACAGCTATTATATAT ATATAATAACAGCTATTATACACA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(41): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG02630.hp1 others(5): Show HG00735.hp2 HG01433.hp1 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03654.hp2 HG03927.hp1 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0012 others(1): Show a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0012 a0002c0001t0001g0065	8	360	0.0222	-48	c.-21 others(57): Show c.-219_-172delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCG CGCCCGCCCCCT		COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding					204		chr17	TogoVar
COL13A1_chr10_69796906_69964144	69936080	GGAGGGAG others(41): Show GGAGGGAGGGAAGGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0003 a0002c0008t0001 a0002c0005t0003 a0002c0008t0001	a0002c0005t0003g0321 a0002c0008t0001g0111 a0002c0005t0003g0321 a0002c0008t0001g0111	2	322	0.0062	-48	c.177 others(65): Show c.1771-673_1771-626delGGGAGGGAAGGAGGGAAGGGAGGAAGGA AGGAAGGAAGGAAGGAAAGA		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40					INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	69921700	ATATATTC others(41): Show ATATATTCGTATGTAGATTCGTATATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01256.hp1 others(16): Show HG00099.hp2 HG01106.hp1 HG01256.hp1 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0004c0018 a0010c0022	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0002c0003t0002 a0002c0003t0011 a0002c0003t0039 a0002c0004t0001 a0002c0004t0011 a0002c0004t0016 a0002c0006t0003 a0002c0009t0014 a0004c0018t0025 a0010c0022t0003	a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 others(16): Show a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 a0001c0002t0001g0073 a0001c0002t0002g0059 a0001c0002t0008g0160 a0002c0003t0002g0175 a0002c0003t0011g0115 a0002c0003t0039g0127 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0161 a0002c0004t0011g0111 a0002c0004t0016g0112 a0002c0006t0003g0162 a0002c0006t0003g0163 a0002c0009t0014g0012 a0004c0018t0025g0114 a0010c0022t0003g0113	19	178	0.1067	-48	c.267 others(65): Show c.267-6183_267-6136delATTCGTATGTAGATTCGTATATGTATAT TCGTATGTAGATTCGTATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63306165	AGGAAGTT others(41): Show AGGAAGTTCTTCCTCGTGTCTGACCACACGGTCTCTGACCACGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0003 a0017c0021t0003	a0017c0021t0003g0217 a0017c0021t0003g0217	1	283	0.0035	-48	c.496 others(63): Show c.496+307_496+354delACCACGAGGCCGGGAAGTTCTTCCTCGTGT CTGACCACACGGTCTCTG		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	5/35					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178294413	TCCCAAAT others(41): Show TCCCAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0211 a0002c0003t0002g0211	1	150	0.0067	-48	c.407 others(65): Show c.407-4092_407-4045delGAGGGAGCTCGGTAGTGATTTGGGGAGG GAGCTGGGTAGTGATTTGGG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28						chr5	TogoVar
COL23A1_chr5_178232618_178595393	178362905	CCCCACAG others(41): Show CCCCACAGCAACCCACCCCCACAGCAACCCACCCCCACAGCAATCCACT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0139	1	236	0.0042	-48	c.362 others(67): Show c.362-56034_362-55987delAGTGGATTGCTGTGGGGGTGGGTTGC TGTGGGGGTGGGTTGCTGTGGG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
COL26A1_chr7_101357875_101564024	101450744	TTCTATAT others(41): Show TTCTATATGAATATGAATTCCATAGTCTATATGAATATGAATTCCATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03516.hp1 HG02647.hp1 HG02896.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0020 a0002c0004t0001 a0001c0001t0002 a0001c0002t0020 a0002c0004t0001	a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0150 a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0150	3	78	0.0385	-48	c.385 others(65): Show c.385+3020_385+3067delAATTCCATAGTCTATATGAATATGAATT CCATAGTCTATATGAATATG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A4_chr2_226997714_227169205	227041767	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	273	0.0037	-48	c.350 others(65): Show c.3505+333_3505+380delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTTCCTTCCTTCCTTCCTT		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47						chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(41): Show GAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19082.hp2 NA18971.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0112 a0009c0009t0001g0084 a0001c0001t0001g0112 a0009c0009t0001g0084	2	239	0.0084	-48	c.350 others(65): Show c.3505+321_3505+368delTTTCTTTCTTTCTTTCTTTCTTCCTTTC TTTCTTTCTTTCCCTTCCTT		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47						chr2	TogoVar
COL5A1_chr9_134636803_134849843	134848780	TGATCACA others(41): Show TGATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02809.hp2 HG02896.hp2 others(1): Show HG00735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0007 a0001c0003t0025 a0001c0006t0007 a0001c0001t0007 a0001c0003t0025 a0001c0006t0007	a0001c0001t0007g0215 a0001c0003t0025g0043 a0001c0003t0025g0218 others(1): Show a0001c0001t0007g0215 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0006t0007g0103	4	261	0.0153	-48	c.64 others(59): Show c.6478_*6525delGATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACGG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					3938		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848922	CGGGATCA others(41): Show CGGGATCACACCTCCCAGGGAGCACGGGATCACACCTCCCAGGGAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02647.hp2 NA18967.hp2 HG00609.hp1 HG02647.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0003t0002 a0001c0007t0023 a0001c0001t0002 a0001c0003t0002 a0001c0007t0023	a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232 a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232	3	270	0.0111	-48	c.66 others(59): Show c.6620_*6667delGGGATCACACCTCCCAGGGAGCACGGGATCACAC CTCCCAGGGAGCAT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4080		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849037	GAGCACCG others(41): Show GAGCACCGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	196	0.0051	-48	c.67 others(59): Show c.6735_*6782delAGCACCGGATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4195		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849043	CGGATCAC others(41): Show CGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02055.hp2 HG02258.hp1 others(10): Show HG00642.hp2 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(6): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0019 a0001c0039 a0001c0047 a0001c0060	a0001c0003t0004 a0001c0005t0001 a0001c0006t0004 others(8): Show a0001c0003t0004 a0001c0005t0001 a0001c0006t0004 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0010t0026 a0001c0019t0001 a0001c0039t0004 a0001c0047t0003 a0001c0060t0004	a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0005t0001g0107 others(10): Show a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0005t0001g0107 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0048g0047 a0001c0007t0001g0187 a0001c0007t0004g0028 a0001c0010t0026g0049 a0001c0019t0001g0214 a0001c0039t0004g0197 a0001c0047t0003g0032 a0001c0060t0004g0240	13	211	0.0616	-48	c.67 others(59): Show c.6741_*6788delGGATCACACCTCCCAGGAACCACGATATCACACC TCCCAGGAAGCACA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4201		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849261	GATCACAC others(41): Show GATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0003 a0001c0049t0003	a0001c0049t0003g0183 a0001c0049t0003g0183	1	270	0.0037	-48	c.69 others(59): Show c.6959_*7006delATCACACCTCCCAGGAAGCACGGGATCACACCTC CCAGGAACCACAAT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4419		chr9	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(61): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2	a0002 a0005 a0006 others(13): Show a0002 a0005 a0006 a0016 a0020 a0029 a0034 a0039 a0049 a0051 a0053 a0055 a0056 a0063 a0065 a0066	a0002c0002 a0002c0020 a0002c0034 others(23): Show a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0126 a0002c0130 a0002c0139 a0005c0021 a0005c0032 a0006c0029 a0016c0037 a0016c0074 a0020c0028 a0020c0069 a0029c0046 a0034c0043 a0039c0127 a0049c0101 a0051c0096 a0053c0067 a0055c0133 a0056c0075 a0063c0134 a0065c0129 a0066c0128	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(28): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0053t0001 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0005c0021t0008 a0005c0032t0007 a0005c0032t0008 a0006c0029t0001 a0016c0037t0002 a0016c0074t0002 a0020c0028t0001 a0020c0069t0002 a0029c0046t0003 a0034c0043t0006 a0034c0043t0007 a0039c0127t0003 a0049c0101t0004 a0051c0096t0002 a0053c0067t0002 a0055c0133t0001 a0056c0075t0007 a0063c0134t0001 a0065c0129t0006 a0066c0128t0001	a0002c0002t0001g0071 a0002c0002t0001g0339 a0002c0002t0001g0341 others(60): Show a0002c0002t0001g0071 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0357 a0002c0002t0002g0080 a0002c0002t0002g0149 a0002c0002t0002g0305 a0002c0002t0002g0312 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0329 a0002c0002t0002g0338 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0352 a0002c0002t0002g0354 a0002c0002t0002g0356 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0374 a0002c0002t0005g0062 a0002c0020t0001g0072 a0002c0020t0001g0107 a0002c0020t0001g0118 a0002c0020t0002g0098 a0002c0020t0002g0320 a0002c0034t0002g0158 a0002c0034t0002g0173 a0002c0034t0002g0277 a0002c0041t0001g0278 a0002c0053t0001g0387 a0002c0126t0001g0245 a0002c0130t0001g0340 a0002c0139t0002g0068 a0005c0021t0008g0003 a0005c0021t0008g0293 a0005c0021t0008g0296 a0005c0021t0008g0298 a0005c0032t0007g0172 a0005c0032t0008g0039 a0005c0032t0008g0174 a0006c0029t0001g0232 a0006c0029t0001g0233 a0006c0029t0001g0234 a0016c0037t0002g0143 a0016c0037t0002g0144 a0016c0037t0002g0145 a0016c0074t0002g0251 a0020c0028t0001g0210 a0020c0069t0002g0282 a0029c0046t0003g0015 a0029c0046t0003g0026 a0034c0043t0006g0056 a0034c0043t0007g0055 a0039c0127t0003g0146 a0049c0101t0004g0041 a0051c0096t0002g0009 a0053c0067t0002g0283 a0055c0133t0001g0358 a0056c0075t0007g0054 a0063c0134t0001g0287 a0065c0129t0006g0060 a0066c0128t0001g0353	64	209	0.3062	-48	c.240 others(67): Show c.2407-1459_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977800	AGGGGGAG others(41): Show AGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	125	0.0080	-48	c.-40 others(59): Show c.-4050_-4003delGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGA GGGGGAGAGAGGAG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					3969		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987786	CGGCGGGG others(41): Show CGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02717.hp1 HG03453.hp1 others(2): Show HG00423.hp1 HG02717.hp1 HG03453.hp1 NA19005.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0002c0002t0009 a0002c0002t0010 others(1): Show a0001c0001t0002 a0002c0002t0009 a0002c0002t0010 a0004c0005t0001	a0001c0001t0002g0096 a0001c0001t0002g0098 a0002c0002t0009g0038 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0098 a0002c0002t0009g0038 a0002c0002t0010g0123 a0004c0005t0001g0058	5	126	0.0397	-48	c.804 others(63): Show c.804+140_804+187delGTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGATGGCGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133888	CAAATCAC others(41): Show CAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0249 a0001c0027t0003g0249	1	370	0.0027	-48	c.43 others(59): Show c.4398_*4445delAAATCACACTGGACCAAGGCTCAGCCTGCTCTAG AATACCTCACCTAA		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					4088		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133888	CAAATCAC others(41): Show CAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0248 a0001c0046t0001g0248	1	362	0.0028	-48	c.13 others(59): Show c.1337_*1384delAAATCACACTGGACCAAGGCTCAGCCTGCTCTAG AATACCTCACCTAA		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					1041		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825064	AGGCTGGG others(41): Show AGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01123.hp2 others(16): Show HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG02109.hp1 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0002 a0004 a0011 others(1): Show a0002 a0004 a0011 a0019	a0002c0006 a0002c0012 a0004c0011 others(3): Show a0002c0006 a0002c0012 a0004c0011 a0011c0042 a0011c0043 a0019c0024	a0002c0006t0001 a0002c0012t0001 a0004c0011t0001 others(3): Show a0002c0006t0001 a0002c0012t0001 a0004c0011t0001 a0011c0042t0001 a0011c0043t0001 a0019c0024t0002	a0002c0006t0001g0105 a0002c0006t0001g0147 a0002c0006t0001g0148 others(10): Show a0002c0006t0001g0105 a0002c0006t0001g0147 a0002c0006t0001g0148 a0002c0006t0001g0149 a0002c0006t0001g0335 a0002c0006t0001g0336 a0002c0012t0001g0005 a0002c0012t0001g0152 a0004c0011t0001g0004 a0004c0011t0001g0104 a0011c0042t0001g0093 a0011c0043t0001g0156 a0019c0024t0002g0103	19	368	0.0516	-48	c.630 others(63): Show c.630+132_630+179delGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGG		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62839641	ATGCCCTG others(41): Show ATGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(95): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18971.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0018 a0023	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0041 a0002c0006 a0002c0012 a0002c0014 a0002c0034 a0003c0007 a0003c0021 a0004c0011 a0004c0013 a0004c0023 a0006c0019 a0006c0020 a0008c0017 a0009c0048 a0011c0042 a0011c0043 a0018c0052 a0023c0031	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0007 a0001c0004t0004 a0001c0005t0001 a0001c0041t0001 a0002c0006t0001 a0002c0006t0006 a0002c0012t0001 a0002c0014t0004 a0002c0034t0005 a0003c0007t0001 a0003c0007t0005 a0003c0021t0004 a0004c0011t0001 a0004c0013t0001 a0004c0023t0001 a0006c0019t0004 a0006c0020t0001 a0006c0020t0007 a0008c0017t0001 a0009c0048t0001 a0011c0042t0001 a0011c0043t0001 a0018c0052t0005 a0023c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0025 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0153 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0005g0341 a0001c0001t0006g0070 a0001c0001t0006g0076 a0001c0001t0006g0246 a0001c0001t0007g0170 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0058 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0125 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0198 a0001c0002t0001g0204 a0001c0002t0001g0264 a0001c0002t0001g0337 a0001c0002t0008g0002 a0001c0003t0001g0275 a0001c0003t0001g0280 a0001c0003t0001g0283 a0001c0003t0001g0309 a0001c0003t0001g0316 a0001c0003t0001g0320 a0001c0003t0007g0342 a0001c0004t0004g0161 a0001c0004t0004g0242 a0001c0004t0004g0245 a0001c0004t0004g0263 a0001c0005t0001g0282 a0001c0041t0001g0164 a0002c0006t0001g0147 a0002c0006t0001g0329 a0002c0006t0001g0334 a0002c0006t0001g0335 a0002c0006t0006g0145 a0002c0006t0006g0332 a0002c0012t0001g0005 a0002c0012t0001g0152 a0002c0014t0004g0092 a0002c0014t0004g0330 a0002c0034t0005g0331 a0003c0007t0001g0081 a0003c0007t0001g0084 a0003c0007t0001g0085 a0003c0007t0005g0062 a0003c0007t0005g0157 a0003c0021t0004g0097 a0004c0011t0001g0004 a0004c0013t0001g0038 a0004c0013t0001g0040 a0004c0023t0001g0037 a0006c0019t0004g0106 a0006c0020t0001g0159 a0006c0020t0007g0075 a0008c0017t0001g0343 a0008c0017t0001g0344 a0008c0017t0001g0346 a0009c0048t0001g0063 a0011c0042t0001g0093 a0011c0043t0001g0156 a0018c0052t0005g0086 a0023c0031t0001g0202	98	326	0.3006	-48	c.186 others(65): Show c.1865-790_1865-743delCTCCTCTCCTCCACCCACCCCACCTCTC CCTGGGTGCCCTGGAGCCCT		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	31/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3591076	GGGGGCTG others(41): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	376	0.0027	-48	c.-41 others(59): Show c.-4118_-4071delGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCA		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding					4035		chr2	TogoVar
COQ8A_chr1_226935294_226992544	226976127	TGGGGCTG others(41): Show TGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(197): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0011 a0001c0016 a0004c0017 a0005c0018 a0006c0019 a0007c0014 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0006t0003 a0001c0008t0001 a0001c0011t0004 a0001c0016t0001 a0004c0017t0001 a0005c0018t0011 a0006c0019t0001 a0007c0014t0001 a0008c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(160): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0002g0201 a0001c0001t0004g0001 a0001c0001t0004g0007 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0117 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0181 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0006g0033 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0002t0003g0164 a0001c0002t0003g0171 a0001c0006t0003g0070 a0001c0006t0003g0284 a0001c0006t0003g0285 a0001c0006t0003g0288 a0001c0006t0003g0300 a0001c0008t0001g0084 a0001c0008t0001g0085 a0001c0008t0001g0086 a0001c0011t0004g0178 a0001c0016t0001g0319 a0004c0017t0001g0016 a0005c0018t0011g0127 a0006c0019t0001g0254 a0007c0014t0001g0325 a0008c0015t0001g0106	200	403	0.4963	-48	c.656 others(65): Show c.656-1266_656-1219delCGGGACTGCGGGGCTGTGGGACTGCGAT GTTGCCTGGCTGCGGGGCTG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(41): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0101 a0002c0002t0001g0103	2	40	0.0500	-48	c.192 others(67): Show c.192+16959_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10						chr8	TogoVar
CPNE4_chr3_131528569_132040014	131580387	TCTATACA others(41): Show TCTATACATATACATATACATATACATATACATATACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02559.hp1 others(4): Show HG01884.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0010 a0001c0005t0001	a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0002g0078 others(4): Show a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0002g0078 a0001c0002t0001g0033 a0001c0003t0002g0071 a0001c0004t0010g0086 a0001c0005t0001g0032	7	92	0.0761	-48	c.867 others(65): Show c.867+1144_867+1191delGTATATGTATATGTATATGTATATGTAT ATGTATATGTATATGTATAG		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	9/15						chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792624	TATATATA others(41): Show TATATATACACACGTGTATATATGTATATATACACACGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG03041.hp2 others(1): Show HG01884.hp1 HG02647.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 others(1): Show a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003	a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0030 others(1): Show a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0030 a0001c0003t0003g0031	4	91	0.0440	-48	c.181 others(67): Show c.181-69047_181-69000delGTATATATACACGTGTGTATATATAC ATATATACACGTGTGTATATAT		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15						chr3	TogoVar
CPNE4_chr3_131528569_132040014	131952559	GGGAGGGA others(41): Show GGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp1 others(16): Show HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18939.hp1 NA18966.hp2 NA18982.hp1 NA19007.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0006t0004	a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0002g0075 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0059 a0001c0001t0002g0075 a0001c0001t0008g0064 a0001c0002t0001g0034 a0001c0002t0014g0065 a0001c0003t0001g0019 a0001c0003t0001g0037 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0062 a0001c0004t0001g0035 a0001c0004t0001g0051 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0006t0004g0036	19	92	0.2065	-48	c.-1- others(65): Show c.-1-47163_-1-47116delGGACGGGGCGGCTGGCCGGGCGGGGTGC TGACCCCCCCACCTCCCTCC		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588158	CCGTGTCA others(41): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18970.hp1 HG02280.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0003 a0001c0009t0001 a0001c0002t0003 a0001c0009t0001	a0001c0002t0003g0188 a0001c0009t0001g0017 a0001c0002t0003g0188 a0001c0009t0001g0017	2	331	0.0060	-48	c.928 others(63): Show c.928-506_928-459delGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCC		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CPS1_chr2_210551599_210684107	210564125	AGAAATTT others(41): Show AGAAATTTCAGAGCTTGCAGTATTCTATCTTGTAACATCATTAGAACAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0324 a0002c0002t0002g0324	1	338	0.0030	-48	c.126 others(65): Show c.126+7267_126+7314delGAAATTTCAGAGCTTGCAGTATTCTATC TTGTAACATCATTAGAACAT		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37						chr2	TogoVar
CPSF3_chr2_9418654_9478101	9466226	ACACACAC others(41): Show ACACACACGTGCGCGCACGCACGCGCACACACGCACACAAAGACGCACG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0211 a0001c0004t0001g0212	2	228	0.0088	-48	c.178 others(67): Show c.1787-1467_1787-1420delGCACGCACGCGCACACACGCACACAA AGACGCACGCACACACGTGCGC		CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
CREB3L2_chr7_137869979_138007086	137922370	CTATATAT others(41): Show CTATATATATATATGTATATATATATATATATATATATATATATATGTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0067 a0001c0004t0067	a0001c0004t0067g0285 a0001c0004t0067g0285	1	272	0.0037	-48	c.319 others(65): Show c.319+5732_319+5779delTACATATATATATATATATATATATATA TATATACATATATATATATA		CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11						chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946832	ATATATAG others(41): Show ATATATAGTTATCTATATAGTTATCTATATAGTTATATATATAGTTATC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	285	0.0035	-48	c.103 others(67): Show c.103-18514_103-18467delGATAACTATATATATAACTATATAGA TAACTATATAGATAACTATATA		CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11						chr7	TogoVar
CRP_chr1_159707289_159719589	159713405	CCCAGAGA others(41): Show CCCAGAGACAGAGACGTGGGAACCATGCAGTGTAAAAAAGCGGGAGGTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA19004.hp2 NA18965.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	2	432	0.0046	-48	c.72 others(56): Show c.72_*119delTACCTCCCGCTTTTTTACACTGCATGGTTCCCACGTC TCTGTCTCTGG		CRP	ENSG00000132693.12	transcript	ENST00000255030.9	protein_coding	2/2				72		chr1	TogoVar
CRP_chr1_159707289_159719589	159713444	GCGGGAGG others(41): Show GCGGGAGGTACCAGAGACAGAGACGTGGGGCCCATGCGGTGTAAAAAAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0013 a0001c0005t0002g0013	1	432	0.0023	-48	c.33 others(55): Show c.33_*80delGTTTTTTACACCGCATGGGCCCCACGTCTCTGTCTCTG GTACCTCCCG		CRP	ENSG00000132693.12	transcript	ENST00000255030.9	protein_coding	2/2				33		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19657239	TGATAAAC others(41): Show TGATAAACTGAAAGATAAACTGAAAGATAAACTGAAAGATAAACTGAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG02055.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0001t0005 a0001c0002t0006	a0001c0001t0005g0187 a0001c0002t0006g0045 a0001c0001t0005g0187 a0001c0002t0006g0045	2	72	0.0278	-48	c.-39 others(69): Show c.-391-55422_-391-55375delTTTCAGTTTATCTTTCAGTTTATC TTTCAGTTTATCTTTCAGTTTATC		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926034	CACACACA others(41): Show CACACACACAAACACCATATACACACACACACACACACACAAACACCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	126	0.0079	-48	c.818 others(67): Show c.818+71821_818+71868delATGGTGTTTGTGTGTGTGTGTGTGTG TGTATATGGTGTTTGTGTGTGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920884	AAGAAAAG others(41): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	-48	c.85+ others(65): Show c.85+73400_85+73447delCTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920902	AAAAGAAA others(41): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0008 a0008	a0008c0088 a0008c0088	a0008c0088t0076 a0008c0088t0076	a0008c0088t0076g0057 a0008c0088t0076g0057	1	110	0.0091	-48	c.85+ others(65): Show c.85+73382_85+73429delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	8	0.1250	-48	c.710 others(67): Show c.710-13471_710-13424delATATATATATATATATATATATATAT ATATATATATATATATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542624	ATATATAT others(41): Show ATATATATATATATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01255.hp1 others(13): Show HG00741.hp1 HG01099.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG03453.hp1 HG06807.hp2 NA18954.hp2 NA18978.hp2 NA18993.hp2 NA19065.hp2 NA19070.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0027	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0009g0301 a0001c0001t0016g0081 a0001c0001t0027g0067	16	385	0.0416	-48	c.230 others(65): Show c.230+7403_230+7450delCATATATATATATATATATATATATATA TATACATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1E_chr22_38285691_38322433	38322173	GGAGATGT others(41): Show GGAGATGTGCGCCCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-48	c.-50 others(59): Show c.-5074_-5027delTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTA CGGGCGCACATCTC		CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding					4741		chr22	TogoVar
CSNK1G2_chr19_1936172_1986338	1968110	CCGACCAC others(41): Show CCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG03098.hp1 others(3): Show HG02572.hp2 HG02630.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0022 a0001c0001t0005g0239 a0001c0001t0005g0251 others(3): Show a0001c0001t0005g0022 a0001c0001t0005g0239 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0011g0242	6	380	0.0158	-48	c.-26 others(67): Show c.-265-1397_-265-1350delCGACCACCCTTCAGTTCTGCAGGTGG GGCTCCTCCCCAGGCTGTCCCT		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11						chr19	TogoVar
CSRP1_chr1_201478530_201512123	201481555	GGGCGGGG others(41): Show GGGCGGGGTGGCTTATGCCTGTAATCCCAGCCACTCAGAGGCTGAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0133 a0003c0005t0001g0133	1	430	0.0023	-48	c.31 others(59): Show c.3110_*3157delTGGCTCAGCCTCTGAGTGGCTGGGATTACAGGCA TAAGCCACCCCGCC		CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding					1974		chr1	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 NA18950.hp1 HG00733.hp2 HG01099.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0085	3	196	0.0153	-48	c.-29 others(65): Show c.-29+4542_-29+4589delAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGG		CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5						chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197368	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00733.hp1 others(53): Show HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01256.hp1 HG01358.hp1 HG02015.hp1 HG02055.hp1 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18949.hp1 NA18966.hp1 NA18971.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0002c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0183 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0280 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0279 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0003t0001g0216 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0241 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0248 a0001c0004t0001g0126 a0002c0007t0001g0267	56	412	0.1359	-48	c.-29 others(65): Show c.-29+4538_-29+4585delAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGG		CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5						chr11	TogoVar
CT47C1_chrX_119067993_119081765	119073870	TGCAGAAG others(41): Show TGCAGAAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGGAGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02886.hp1 HG03139.hp1 others(8): Show HG01891.hp2 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA18946.hp2 NA18969.hp2 NA18991.hp1 NA19085.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0007 a0002c0012 a0002c0013 others(2): Show a0002c0007 a0002c0012 a0002c0013 a0004c0005 a0007c0008	a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 others(3): Show a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0004c0005t0002 a0007c0008t0003 a0007c0008t0005	a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 others(3): Show a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 a0004c0005t0002g0002 a0007c0008t0003g0010 a0007c0008t0005g0001	11	308	0.0357	-48	c.699 others(55): Show c.699_746delAGAGCCCGCAGAGGAGGCCTCAGAGAAGCCCACAGAGG AGGCCGCAGA	p.Glu others(13): Show p.Glu234_Glu249del	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	932/1772	699/975	233/324		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80043083	CTTTCTTT others(41): Show CTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0004 a0001c0002t0001g0022	2	67	0.0299	-48	c.105 others(71): Show c.1056+133288_1056+133335delTTCTTTCTTTCTCTCTCTCTCT CTCTCTTTCTTTCTCCTTCCTTCCTT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr2	TogoVar

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