Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL23A1_chr5_178232618_178595393	178269458	T T	TCCATCCA others(21): Show TCCATCCACCCGTCCATCCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp1 HG03453.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0005 a0004c0006t0003 a0002c0003t0005 a0004c0006t0003	a0002c0003t0005g0066 a0004c0006t0003g0139 a0002c0003t0005g0066 a0004c0006t0003g0139	2	233	0.0086	28	c.469 others(43): Show c.469-703_469-702insGTGGGTGGGTGGATGGACGGGTGGATGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178358248	G G	GTGTGTGT others(21): Show GTGTGTGTATGTATATGTGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02965.hp1 HG03098.hp1 others(3): Show HG02572.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0009 a0003c0004 a0001c0001 a0002c0009 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0002c0009t0006 others(2): Show a0001c0001t0003 a0001c0001t0005 a0002c0009t0006 a0002c0009t0008 a0003c0004t0005	a0001c0001t0003g0119 a0001c0001t0005g0113 a0001c0001t0005g0144 others(3): Show a0001c0001t0003g0119 a0001c0001t0005g0113 a0001c0001t0005g0144 a0002c0009t0006g0232 a0002c0009t0008g0235 a0003c0004t0005g0132	6	120	0.0500	28	c.362 others(47): Show c.362-51330_362-51329insTATACATACACACATATACATACACA CA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(21): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00639.hp2 others(16): Show HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG02015.hp2 HG02273.hp2 HG02630.hp2 HG02647.hp1 HG02897.hp1 HG03139.hp1 HG03471.hp1 NA18747.hp2 NA18971.hp1 NA18974.hp1 NA19004.hp1 NA19010.hp1 NA19065.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013 a0018 a0026 a0043 a0044 a0047	a0001c0005 a0002c0007 a0003c0003 others(10): Show a0001c0005 a0002c0007 a0003c0003 a0004c0002 a0005c0004 a0006c0061 a0011c0012 a0013c0018 a0018c0025 a0026c0069 a0043c0035 a0044c0078 a0047c0073	a0001c0005t0003 a0002c0007t0001 a0002c0007t0002 others(13): Show a0001c0005t0003 a0002c0007t0001 a0002c0007t0002 a0003c0003t0002 a0004c0002t0001 a0004c0002t0007 a0005c0004t0001 a0005c0004t0002 a0006c0061t0003 a0011c0012t0001 a0013c0018t0004 a0018c0025t0004 a0026c0069t0004 a0043c0035t0015 a0044c0078t0002 a0047c0073t0002	a0001c0005t0003g0224 a0002c0007t0001g0075 a0002c0007t0002g0085 others(16): Show a0001c0005t0003g0224 a0002c0007t0001g0075 a0002c0007t0002g0085 a0003c0003t0002g0143 a0004c0002t0001g0154 a0004c0002t0007g0001 a0004c0002t0007g0002 a0005c0004t0001g0040 a0005c0004t0001g0181 a0005c0004t0002g0180 a0005c0004t0002g0188 a0006c0061t0003g0232 a0011c0012t0001g0128 a0013c0018t0004g0061 a0018c0025t0004g0035 a0026c0069t0004g0124 a0043c0035t0015g0029 a0044c0078t0002g0237 a0047c0073t0002g0178	19	55	0.3455	28	c.395 others(49): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT TTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp2 HG02273.hp1 HG01496.hp2 HG01952.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0160 a0001c0001t0002g0161 a0001c0001t0001g0043 a0001c0001t0001g0160 a0001c0001t0002g0161	3	39	0.0769	28	c.395 others(49): Show c.3952-12778_3952-12751dupCTTTCTTTCTTTCTTTCTTTCTTT CTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858621	C C	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCTTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01123.hp2 others(19): Show HG01099.hp1 HG01123.hp1 HG01123.hp2 HG02040.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02922.hp2 HG04115.hp2 NA18522.hp1 NA18944.hp1 NA18978.hp1 NA18986.hp2 NA18990.hp1 NA19012.hp1 NA19062.hp1 NA19082.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0025 a0038	a0001c0001 a0002c0007 a0004c0002 others(10): Show a0001c0001 a0002c0007 a0004c0002 a0005c0004 a0006c0028 a0007c0014 a0008c0006 a0010c0009 a0011c0012 a0012c0015 a0014c0020 a0025c0030 a0038c0043	a0001c0001t0003 a0002c0007t0002 a0004c0002t0001 others(15): Show a0001c0001t0003 a0002c0007t0002 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0005c0004t0001 a0005c0004t0002 a0006c0028t0002 a0007c0014t0001 a0007c0014t0017 a0008c0006t0002 a0010c0009t0002 a0010c0009t0003 a0011c0012t0001 a0012c0015t0002 a0014c0020t0002 a0025c0030t0002 a0038c0043t0004	a0001c0001t0003g0157 a0002c0007t0002g0090 a0004c0002t0001g0154 others(19): Show a0001c0001t0003g0157 a0002c0007t0002g0090 a0004c0002t0001g0154 a0004c0002t0002g0184 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0005c0004t0001g0121 a0005c0004t0002g0183 a0005c0004t0002g0190 a0006c0028t0002g0086 a0007c0014t0001g0204 a0007c0014t0017g0238 a0008c0006t0002g0055 a0010c0009t0002g0053 a0010c0009t0003g0058 a0011c0012t0001g0128 a0012c0015t0002g0027 a0014c0020t0002g0172 a0014c0020t0002g0173 a0025c0030t0002g0081 a0038c0043t0004g0104	22	82	0.2683	28	c.330 others(47): Show c.3301-9216_3301-9215insAGGAAGGAAAGAAGGAAGGAAGGAAG GA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0032 a0035 a0032 a0035	a0032c0065 a0035c0075 a0032c0065 a0035c0075	a0032c0065t0004 a0035c0075t0008 a0032c0065t0004 a0035c0075t0008	a0032c0065t0004g0189 a0035c0075t0008g0217 a0032c0065t0004g0189 a0035c0075t0008g0217	2	31	0.0645	28	c.277 others(45): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	121	0.0083	28	c.231 others(47): Show c.2311-9402_2311-9401insTATATATATATATACACACACACACA CA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097556	C C	CCCCCCTC others(21): Show CCCCCCTCCTCCTCCTCCCTCGTCCTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(23): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02572.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG04228.hp2 HG06807.hp2 NA20805.hp1	a0003 a0007 a0019 others(5): Show a0003 a0007 a0019 a0033 a0036 a0037 a0039 a0040	a0003c0003 a0003c0011 a0007c0010 others(8): Show a0003c0003 a0003c0011 a0007c0010 a0007c0014 a0007c0076 a0019c0039 a0033c0054 a0036c0074 a0037c0055 a0039c0053 a0040c0064	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(14): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0008 a0003c0003t0016 a0003c0011t0003 a0007c0010t0004 a0007c0014t0003 a0007c0014t0017 a0007c0076t0001 a0019c0039t0003 a0033c0054t0004 a0036c0074t0003 a0037c0055t0009 a0039c0053t0009 a0040c0064t0003	a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0220 others(23): Show a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0002g0156 a0003c0003t0003g0147 a0003c0003t0003g0210 a0003c0003t0003g0225 a0003c0003t0004g0216 a0003c0003t0008g0150 a0003c0003t0016g0227 a0003c0011t0003g0211 a0003c0011t0003g0212 a0003c0011t0003g0213 a0007c0010t0004g0149 a0007c0014t0003g0235 a0007c0014t0017g0238 a0007c0076t0001g0236 a0019c0039t0003g0025 a0033c0054t0004g0097 a0036c0074t0003g0208 a0037c0055t0009g0005 a0039c0053t0009g0006 a0040c0064t0003g0093	26	233	0.1116	28	c.160 others(47): Show c.1600-5237_1600-5236insAGAAGGACGAGGGAGGAGGAGGAGGG GG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108832973	T T	TAATAAAT others(21): Show TAATAAATAAATAAATAAATAAATACATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01167.hp1 others(16): Show HG00639.hp1 HG01071.hp1 HG01167.hp1 HG01258.hp1 HG01361.hp1 HG01884.hp1 HG01981.hp2 HG01993.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03704.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0002	a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0080 others(16): Show a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0002g0056 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0003g0017 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0006g0072 a0001c0001t0016g0009 a0001c0004t0001g0127 a0001c0004t0003g0021 a0001c0004t0004g0027 a0001c0005t0002g0124	19	84	0.2262	28	c.165 others(45): Show c.1657-541_1657-540insTATGTATTTATTTATTTATTTATTTATT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108832974	A A	AATAAATA others(21): Show AATAAATAAATAAATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0016 a0001c0010t0003g0016	1	70	0.0143	28	c.165 others(45): Show c.1657-542_1657-541insGTATTTATTTATTTATTTATTTATTTAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019373	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02145.hp2 HG02056.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0075 a0001c0005t0002g0123 a0001c0001t0002g0075 a0001c0005t0002g0123	2	106	0.0189	28	c.421 others(45): Show c.421-8999_421-8998insATATATATATATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019375	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0124 a0001c0005t0002g0124	1	91	0.0110	28	c.421 others(45): Show c.421-9001_421-9000insATATATATATATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109250369	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02293.hp1 HG02723.hp1 others(6): Show HG00140.hp2 HG02293.hp1 HG02723.hp1 HG03225.hp2 HG03579.hp1 NA18522.hp2 NA18952.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0106 a0001c0001t0002g0094 a0001c0001t0002g0105 others(6): Show a0001c0001t0001g0106 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0026g0046 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0004t0002g0083	9	35	0.2571	28	c.367 others(47): Show c.367+50213_367+50214insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109256085	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0042 a0001c0002t0005g0042	1	44	0.0227	28	c.367 others(47): Show c.367+44470_367+44497dupACACACACACACACACACACACACAC AC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101385367	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0136 a0002c0003t0025g0136	1	128	0.0078	28	c.158 others(47): Show c.158+22196_158+22197insATATATATATATATATATATATATAT AT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463775	T T	TTCTTTCT others(21): Show TTCTTTCTCTCTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0116 a0001c0014t0009g0116	1	163	0.0061	28	c.385 others(47): Show c.385+15995_385+15996insCTCTCTTTCTTTCTTTCTCTCTCTTT CT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463869	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00438.hp2 HG00673.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0076 a0002c0003t0001g0094 a0001c0001t0002g0076 a0002c0003t0001g0094	2	103	0.0194	28	c.385 others(47): Show c.385+16090_385+16117dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114166368	A A	AATCCATC others(21): Show AATCCATCCATCCATCCGTCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp2 HG02027.hp2 HG02074.hp2	a0029 a0031 a0029 a0031	a0029c0049 a0031c0050 a0029c0049 a0031c0050	a0029c0049t0004 a0031c0050t0005 a0029c0049t0004 a0031c0050t0005	a0029c0049t0004g0192 a0031c0050t0005g0193 a0029c0049t0004g0192 a0031c0050t0005g0193	2	30	0.0667	28	c.134 others(45): Show c.134-1305_134-1304insGTCCATCCATCCATCCATCCATCCATCC	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18948.hp2 HG01978.hp1 NA18948.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0002 a0003c0005t0003 a0001c0003t0002 a0003c0005t0003	a0001c0003t0002g0080 a0003c0005t0003g0222 a0001c0003t0002g0080 a0003c0005t0003g0222	2	131	0.0153	28	c.314 others(45): Show c.3141+388_3141+389insAAGAAAGAAAGAAAGAAAGAAAGAAAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGGAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG00741.hp2 others(5): Show HG00544.hp1 HG00738.hp1 HG00741.hp2 HG02572.hp1 HG02896.hp1 HG03579.hp1 NA18950.hp1 NA19058.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0036	a0001c0003 a0001c0130 a0001c0139 others(5): Show a0001c0003 a0001c0130 a0001c0139 a0002c0001 a0002c0038 a0005c0057 a0005c0064 a0036c0058	a0001c0003t0006 a0001c0130t0002 a0001c0139t0002 others(5): Show a0001c0003t0006 a0001c0130t0002 a0001c0139t0002 a0002c0001t0004 a0002c0038t0007 a0005c0057t0002 a0005c0064t0003 a0036c0058t0006	a0001c0003t0006g0143 a0001c0130t0002g0105 a0001c0139t0002g0088 others(5): Show a0001c0003t0006g0143 a0001c0130t0002g0105 a0001c0139t0002g0088 a0002c0001t0004g0300 a0002c0038t0007g0142 a0005c0057t0002g0030 a0005c0064t0003g0025 a0036c0058t0006g0032	8	137	0.0584	28	c.314 others(45): Show c.3141+383_3141+384insGAAGAAAGAAAGAAAGAAAGAAAGAAAG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL3A1_chr2_188969373_189017746	189013488	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	23	0.0435	28	c.17 others(39): Show c.1714_*1715insATATATATATATATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		743		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110252469	T T	TATAATTA others(21): Show TATAATTATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0195 a0002c0018t0001g0195	1	342	0.0029	28	c.85- others(43): Show c.85-9736_85-9735insGTATATATATGTATATATATATAATTAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252560	T T	TGTATATA others(21): Show TGTATATATTATATATACAATTATATACA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0003 a0002c0015t0004 a0001c0006t0003 a0002c0015t0004	a0001c0006t0003g0078 a0002c0015t0004g0266 a0001c0006t0003g0078 a0002c0015t0004g0266	2	284	0.0070	28	c.85- others(43): Show c.85-9827_85-9826insTGTATATAATTGTATATATAATATATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481803	T T	TGCTGGAG others(21): Show TGCTGGAGACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02004.hp2 HG01346.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0004 a0001c0003t0003 a0001c0008t0004	a0001c0003t0003g0065 a0001c0008t0004g0285 a0001c0003t0003g0065 a0001c0008t0004g0285	2	240	0.0083	28	c.275 others(45): Show c.2759-713_2759-712insGCTGGAGACACACTGCTCTGTCCCTCCG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18951.hp1 NA18944.hp2 NA18951.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0002 a0001c0004t0004 a0001c0005t0002	a0001c0004t0004g0354 a0001c0005t0002g0334 a0001c0004t0004g0354 a0001c0005t0002g0334	2	160	0.0125	28	c.488 others(47): Show c.4881+1050_4881+1051insTATATATATATATATATATATATATA TA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509270	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0022 a0001c0011t0022	a0001c0011t0022g0358 a0001c0011t0022g0358	1	264	0.0038	28	c.488 others(47): Show c.4881+1050_4881+1051insTATACACACACACACACACACACACA CA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TATATATG others(21): Show TATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0249 a0003c0002t0001g0249	1	233	0.0043	28	c.88- others(45): Show c.88-35053_88-35026dupACATATATGTGTATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202898	T T	TATATATA others(21): Show TATATATACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0158 a0011c0018t0002g0158	1	260	0.0038	28	c.88- others(45): Show c.88-35064_88-35063insACATATATGTGTATATATACACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202982	C C	CATATGTG others(21): Show CATATGTGTATATATGTGTATATATACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0148 a0006c0010t0003g0148	1	116	0.0086	28	c.88- others(45): Show c.88-34905_88-34878dupACATATATGTGTATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203074	T T	TATATATG others(21): Show TATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0002 a0003c0011t0001g0002	1	227	0.0044	28	c.88- others(45): Show c.88-34813_88-34786dupATACATATATGTGTATATATGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203312	T T	TATACATA others(21): Show TATACATATATGTGTATATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02056.hp2 HG01081.hp1 HG02056.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0018 a0001c0001 a0011c0018	a0001c0001t0001 a0011c0018t0002 a0001c0001t0001 a0011c0018t0002	a0001c0001t0001g0126 a0011c0018t0002g0158 a0001c0001t0001g0126 a0011c0018t0002g0158	2	168	0.0119	28	c.88- others(45): Show c.88-34639_88-34638insTATGTGTATACATACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CCCATATA others(21): Show CCCATATATGTATATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG01884.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0042 a0002c0004 a0001c0042 a0002c0004	a0001c0042t0015 a0002c0004t0003 a0001c0042t0015 a0002c0004t0003	a0001c0042t0015g0335 a0002c0004t0003g0144 a0001c0042t0015g0335 a0002c0004t0003g0144	2	189	0.0106	28	c.88- others(45): Show c.88-34606_88-34605insCCATATATGTATATATACATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203437	G G	GTATATAT others(21): Show GTATATATGTGTATACATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0144 a0002c0004t0003g0144	1	146	0.0068	28	c.88- others(45): Show c.88-34526_88-34525insATGTGTATACATATATGTGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203603	G G	GTGTGTAT others(21): Show GTGTGTATATATGTGTATATATACATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18906.hp2 HG01516.hp2 NA18906.hp2	a0019 a0033 a0019 a0033	a0019c0038 a0033c0056 a0019c0038 a0033c0056	a0019c0038t0003 a0033c0056t0004 a0019c0038t0003 a0033c0056t0004	a0019c0038t0003g0157 a0033c0056t0004g0009 a0019c0038t0003g0157 a0033c0056t0004g0009	2	331	0.0060	28	c.88- others(45): Show c.88-34359_88-34332dupATATATGTGTATATATACATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203729	A A	ATATATGT others(21): Show ATATATGTGTATATATACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19000.hp1 NA19065.hp1 HG02083.hp2 NA19000.hp1 NA19065.hp1	a0004 a0008 a0016 a0004 a0008 a0016	a0004c0003 a0008c0009 a0016c0025 a0004c0003 a0008c0009 a0016c0025	a0004c0003t0004 a0008c0009t0001 a0016c0025t0004 a0004c0003t0004 a0008c0009t0001 a0016c0025t0004	a0004c0003t0004g0212 a0008c0009t0001g0115 a0016c0025t0004g0180 a0004c0003t0004g0212 a0008c0009t0001g0115 a0016c0025t0004g0180	3	302	0.0099	28	c.88- others(45): Show c.88-34233_88-34206dupGTGTATATATACATATATGTGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203759	A A	ATATGTGT others(21): Show ATATGTGTATATATACATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	308	0.0032	28	c.88- others(45): Show c.88-34206_88-34205insGTGTATATATACATATATGTGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227211649	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0334 a0014c0023t0002g0334	1	198	0.0051	28	c.88- others(45): Show c.88-26293_88-26292insTATTTATTTATTTATTTATTTATTTATT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227218009	A A	ATATAACT others(21): Show ATATAACTATATATAGTCACATATATAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01934.hp1 HG01978.hp2 others(2): Show HG00099.hp1 HG01934.hp1 HG01978.hp2 HG02698.hp2 HG03710.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0004c0003t0019 a0001c0001t0001 a0003c0002t0003 a0004c0003t0019	a0001c0001t0001g0152 a0001c0001t0001g0193 a0003c0002t0003g0219 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0193 a0003c0002t0003g0219 a0003c0002t0003g0310 a0004c0003t0019g0159	5	342	0.0146	28	c.88- others(45): Show c.88-19947_88-19920dupATAGTCACATATATAGTTATAACTATAT	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(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	56	0.0179	28	c.546 others(43): Show c.546+711_546+712insATATATATATATATATATATATATTTTT	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(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0033 a0033	a0033c0056 a0033c0056	a0033c0056t0004 a0033c0056t0004	a0033c0056t0004g0009 a0033c0056t0004g0009	1	56	0.0179	28	c.546 others(43): Show c.546+711_546+712insATATATATATATATATATTTTTTTTTTT	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(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0111 a0010c0012t0001g0111	1	56	0.0179	28	c.546 others(43): Show c.546+711_546+712insATATATATATATATATTTTTTTTTTTTT	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(21): Show ATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0148 a0006c0010t0003g0148	1	56	0.0179	28	c.546 others(43): Show c.546+711_546+712insATATATATATTTTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227282273	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0001	a0018c0028t0001g0013 a0018c0028t0001g0013	1	337	0.0030	28	c.248 others(43): Show c.2489-91_2489-90insTATATATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAAAGAAA others(21): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	148	0.0068	28	c.350 others(45): Show c.3505+299_3505+300insTTCTTTCTTTCTTTCTTTCTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAAAGAGA others(21): Show GAAAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	148	0.0068	28	c.350 others(45): Show c.3505+299_3505+300insTTCTTTCTCTCTCTCTCTCTCTCTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0176 a0007c0006t0004g0176	1	273	0.0037	28	c.145 others(45): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134828525	T T	TACCACAC others(21): Show TACCACACACCACACACACAATACACACC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0025 a0001c0005 a0001c0025	a0001c0005t0022 a0001c0025t0015 a0001c0005t0022 a0001c0025t0015	a0001c0005t0022g0086 a0001c0025t0015g0007 a0001c0005t0022g0086 a0001c0025t0015g0007	2	270	0.0074	28	c.506 others(47): Show c.5068-1449_5068-1448insCACACACCACACACACAATACACACC AC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02109.hp2 others(6): Show HG00099.hp1 HG00099.hp2 HG02109.hp2 HG02135.hp1 HG02622.hp1 HG02809.hp1 NA18951.hp1 NA19006.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0007t0005 a0001c0001t0001 a0001c0001t0003 a0001c0007t0005	a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0003g0182 a0001c0001t0003g0231 a0001c0007t0005g0008	9	28	0.3214	28	c.457 others(45): Show c.457-2196_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0012 a0012	a0012c0077 a0012c0077	a0012c0077t0001 a0012c0077t0001	a0012c0077t0001g0169 a0012c0077t0001g0169	1	223	0.0045	28	c.214 others(45): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(21): Show TCCCGCCCCGCCCCTCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG02922.hp1 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0005 a0001c0012t0005 a0001c0010t0005 a0001c0012t0005	a0001c0010t0005g0072 a0001c0012t0005g0073 a0001c0010t0005g0072 a0001c0012t0005g0073	2	55	0.0364	28	c.-17 others(37): Show c.-171_-170insCCCGCCCCGCCCCTCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar

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