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
CHST12_chr7_2398611_2453484	2452532	GCCCTGCC others(33): Show GCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0291 a0001c0001t0291	a0001c0001t0291g0105 a0001c0001t0291g0105	1	336	0.0030	-40	c.18 others(53): Show c.18649_*18688delCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCC CTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4049		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452537	GCCCTGCC others(33): Show GCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG01515.hp1 others(6): Show HG00280.hp1 HG01346.hp2 HG01515.hp1 HG02572.hp2 HG02809.hp1 HG02965.hp1 NA19009.hp2 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0090 a0001c0001t0101 a0001c0001t0114 others(6): Show a0001c0001t0090 a0001c0001t0101 a0001c0001t0114 a0001c0001t0216 a0001c0001t0221 a0001c0001t0237 a0001c0001t0252 a0001c0001t0270 a0001c0009t0102	a0001c0001t0090g0118 a0001c0001t0101g0159 a0001c0001t0114g0206 others(6): Show a0001c0001t0090g0118 a0001c0001t0101g0159 a0001c0001t0114g0206 a0001c0001t0216g0058 a0001c0001t0221g0087 a0001c0001t0237g0070 a0001c0001t0252g0205 a0001c0001t0270g0272 a0001c0009t0102g0262	9	336	0.0268	-40	c.18 others(53): Show c.18654_*18693delCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCC CTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4054		chr7	TogoVar
CHST14_chr15_40465984_40478158	40475884	CTAATTTT others(33): Show CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	-40	c.35 others(51): Show c.3541_*3580delTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTA CCGTAT	CHST14	ENSG00000169105.8	transcript	ENST00000306243.7	protein_coding		2727		chr15	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	179	0.0056	-40	c.131 others(59): Show c.131-13929_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757486	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02273.hp1 HG01943.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	249	0.0080	-40	c.131 others(59): Show c.131-13925_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757490	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	246	0.0041	-40	c.131 others(59): Show c.131-13921_131-13882delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575300	GTACGTAC others(33): Show GTACGTACACACACGTGCATGTACACACACGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0341 a0006c0007t0003g0343 a0006c0007t0003g0341 a0006c0007t0003g0343	2	370	0.0054	-40	c.894 others(55): Show c.894+931_894+970delTATATATACACGTGTGTGTACATGCACGTG TGTGTACGTA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN3_chr4_169615578_169728673	169679863	AGGGAGAC others(33): Show AGGGAGACCGTGGAAGGCGGGAGTCGGAGACGAGGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp1 others(58): Show HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01069.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02738.hp1 HG02976.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(5): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017 a0001c0002t0036 a0001c0002t0041 a0001c0002t0050 a0001c0004t0002	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0007 others(52): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0042 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0008g0088 a0001c0002t0008g0108 a0001c0002t0009g0061 a0001c0002t0009g0098 a0001c0002t0009g0099 a0001c0002t0009g0100 a0001c0002t0009g0101 a0001c0002t0017g0008 a0001c0002t0036g0097 a0001c0002t0041g0102 a0001c0002t0050g0106 a0001c0004t0002g0073	61	286	0.2133	-40	c.161 others(55): Show c.161-172_161-133delGGCGGGAGTCGGAGACGAGGGAGAGGGGGA GACCGTGGAA	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLEC2L_chr7_139518685_139549985	139520442	CCTAGATG others(33): Show CCTAGATGGGATGGCGGCCGGGAAGAGGCACTCCTCACTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0109 a0001c0007t0003g0109	1	305	0.0033	-40	c.-34 others(51): Show c.-3485_-3446delCTAGATGGGATGGCGGCCGGGAAGAGGCACTCCT CACTTT	CLEC2L	ENSG00000236279.7	transcript	ENST00000422142.7	protein_coding		3242		chr7	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(33): Show CATATATATATATATATATACACATGTATAAATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02451.hp1 others(7): Show HG01081.hp1 HG02257.hp1 HG02451.hp1 HG02647.hp2 HG03579.hp2 HG04199.hp2 NA19003.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0002g0023 a0001c0001t0003g0072 a0001c0001t0004g0211 a0001c0001t0014g0009	10	193	0.0518	-40	c.63+ others(55): Show c.63+9347_63+9386delATATATGTATTTATACATGTGTATATATAT ATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLMP_chr11_123064872_123200248	123118929	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01167.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0053 a0001c0001t0002g0215 a0001c0001t0001g0053 a0001c0001t0002g0215	2	209	0.0096	-40	c.29- others(57): Show c.29-21017_29-20978delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118983	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0189 a0001c0001t0043g0189	1	231	0.0043	-40	c.29- others(57): Show c.29-21071_29-21032delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	19	0.0526	-40	c.142 others(59): Show c.1420-2028_1420-1989delACACACACACACACACACACACACAC ACACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPS_chr6_35789982_35802323	35796165	ACACAAGG others(33): Show ACACAAGGCCCCTAGACAAGTTCTCCAAACCACTCTGGGTC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	416	0.0024	-40	c.85- others(53): Show c.85-352_85-313delGACCCAGAGTGGTTTGGAGAACTTGTCTAGGG GCCTTGTG	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	1/2			chr6	TogoVar
CLSTN2_chr3_139930185_140582397	140135097	CACACACA others(33): Show CACACACACACACACACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 HG03209.hp2 HG02559.hp1 HG03098.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0017 a0001c0001 a0001c0009 a0002c0017	a0001c0001t0002 a0001c0009t0022 a0002c0017t0005 a0001c0001t0002 a0001c0009t0022 a0002c0017t0005	a0001c0001t0002g0091 a0001c0009t0022g0049 a0002c0017t0005g0027 a0001c0001t0002g0091 a0001c0009t0022g0049 a0002c0017t0005g0027	3	94	0.0319	-40	c.110 others(59): Show c.110-40852_110-40813delCACACACACACACACACACATATATA TATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMIP_chr16_81439808_81716762	81551150	CACCCCAG others(33): Show CACCCCAGTTCCATCACATATGTCCCAGTTCTATCACACGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	3	266	0.0113	-40	c.301 others(59): Show c.301-56399_301-56360delTATGTCCCAGTTCTATCACACGTACC CCAGTTCCATCACA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172035	ATGGGATG others(33): Show ATGGGATGGCGGCCGGGACGAGGCGCTCCTCACTTCCCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0133 a0001c0001t0005g0282 a0001c0001t0005g0283	3	320	0.0094	-40	c.41 others(51): Show c.4105_*4144delCCTGGGAAGTGAGGAGCGCCTCGTCCCGGCCGCC ATCCCA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		3280		chr2	TogoVar
CMSS1_chr3_99812862_100186732	99983446	GTATATAT others(33): Show GTATATATATATATGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0018 a0001c0001t0021g0018	1	127	0.0079	-40	c.65- others(59): Show c.65-163513_65-163474delGTGTGTATATATATATATATATATAT ATATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115551	TTCTCTTT others(33): Show TTCTCTTTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	232	0.0043	-40	c.65- others(57): Show c.65-31416_65-31377delTTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115557	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG02015.hp2 others(25): Show HG00280.hp1 HG00423.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG03041.hp1 HG03942.hp1 NA18612.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp1 NA18969.hp1 NA18972.hp2 NA19007.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0104 a0001c0001t0002g0013 a0001c0001t0002g0072 others(25): Show a0001c0001t0001g0104 a0001c0001t0002g0013 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0008g0087 a0001c0001t0008g0088	28	230	0.1217	-40	c.65- others(57): Show c.65-31398_65-31359delGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD2_chr20_35963590_36035700	36001573	GGGCGGAG others(33): Show GGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	266	0.0038	-40	c.970 others(57): Show c.970+6448_970+6487delCGGGGCGGCTGCCAGGCGGAGGGGCTCC TCACTTCTCAGA	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBP_chr3_129162827_129188896	129172584	GCAGGCAG others(33): Show GCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGACAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 others(1): Show HG02258.hp2 HG02280.hp2 HG02559.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0001t0001 a0001c0001t0004 a0001c0001t0029	a0001c0001t0001g0262 a0001c0001t0004g0045 a0001c0001t0029g0257 a0001c0001t0001g0262 a0001c0001t0004g0045 a0001c0001t0029g0257	4	428	0.0093	-40	c.-14 others(55): Show c.-14-853_-14-814delGCTGCCTGTCTGCCTGTCTGCCTGCCTGCC TGCCTGCCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNN2_chr19_1021608_1044065	1029023	TCCCAAAT others(33): Show TCCCAAATAATCCCAGGCAGGTCCAGCTCAGGGGACCCTAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0167 a0001c0018t0008g0167	1	388	0.0026	-40	c.64- others(55): Show c.64-2040_64-2001delAATCCCAGGCAGGTCCAGCTCAGGGGACCC TAACCCAAAT	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT4_chr7_135356795_135515102	135495686	AAAAAAAA others(33): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02970.hp1 others(1): Show HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 others(1): Show a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134	4	270	0.0148	-40	c.-93 others(59): Show c.-93+14163_-93+14202delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01891.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 others(6): Show a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0329	9	19	0.4737	-40	c.112 others(59): Show c.112+10180_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155534309	ACACACAC others(33): Show ACACACACACATGCACACACACGTGCACAGAGGCACACATG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	424	0.0024	-40	c.99+ others(57): Show c.99+11482_99+11521delCATGTGTGCCTCTGTGCACGTGTGTGTG CATGTGTGTGTG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNST_chr1_246561456_246673595	246605709	GGTGTCTT others(33): Show GGTGTCTTCCGGCCGGGGTAGGTGTCTTCCGGCCGGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	314	0.0032	-40	c.379 others(59): Show c.379+13807_379+13846delGCGTGTCTTCCGGCCGGGGTAGGTGT CTTCCGGCCGGGGT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN1_chr12_40687439_41077415	41056979	AGATATTT others(33): Show AGATATTTATAAATATTATAAATATTTAGATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02572.hp1 others(4): Show HG01167.hp1 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0214 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0014g0074 a0001c0001t0014g0184	7	230	0.0304	-40	c.298 others(61): Show c.2981-12939_2981-12900delGATATTTATAAATATTATAAATAT TTAGATATTTATAAAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN5_chr11_99015949_100363885	99598258	CCTTTTCT others(33): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01243.hp1 others(9): Show HG00738.hp1 HG01099.hp2 HG01243.hp1 HG02109.hp2 HG02258.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp2 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0005c0004 a0007c0010	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(7): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0003c0003t0007 a0004c0006t0013 a0005c0004t0020 a0007c0010t0011	a0001c0001t0003g0021 a0001c0001t0003g0022 a0002c0002t0001g0003 others(9): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0039 a0002c0002t0005g0013 a0002c0002t0008g0019 a0003c0003t0007g0057 a0004c0006t0013g0025 a0005c0004t0020g0024 a0007c0010t0011g0009	12	54	0.2222	-40	c.55+ others(57): Show c.55+42017_55+42056delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1158833	CACACACA others(33): Show CACACACATATATATACATACATATATATACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(19): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0025 a0002c0011 a0002c0014 a0002c0017 a0004c0016 a0005c0027	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0008t0001 a0001c0025t0001 a0002c0011t0001 a0002c0014t0001 a0002c0017t0001 a0004c0016t0001 a0005c0027t0001	a0001c0001t0001g0190 a0001c0002t0001g0227 a0001c0002t0004g0228 others(19): Show a0001c0001t0001g0190 a0001c0002t0001g0227 a0001c0002t0004g0228 a0001c0002t0009g0206 a0001c0005t0001g0188 a0001c0006t0001g0112 a0001c0006t0001g0162 a0001c0006t0001g0213 a0001c0006t0001g0223 a0001c0006t0002g0178 a0001c0006t0004g0111 a0001c0007t0001g0092 a0001c0007t0001g0099 a0001c0007t0001g0100 a0001c0008t0001g0118 a0001c0025t0001g0192 a0002c0011t0001g0007 a0002c0014t0001g0232 a0002c0017t0001g0179 a0004c0016t0001g0002 a0004c0016t0001g0003 a0005c0027t0001g0191	22	173	0.1272	-40	c.55+ others(57): Show c.55+10772_55+10811delCACACATATATATACATACATATATATA CACACATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147775309	AAATATAT others(33): Show AAATATATATATATTTATATATATTTATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	-40	c.209 others(63): Show c.2099-128255_2099-128216delAATATATATATATTTATATATA TTTATAAATATATATATT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23			chr7	TogoVar
COBL_chr7_51011212_51321809	51207955	GCCTGGCC others(33): Show GCCTGGCCGCCATCCCATCTAGGAAGTGAGGAGAGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG01433.hp2 others(3): Show HG00099.hp1 HG01261.hp2 HG01433.hp2 HG02970.hp1 HG03654.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0025 a0001c0062 others(1): Show a0001c0003 a0001c0025 a0001c0062 a0003c0001	a0001c0003t0001 a0001c0025t0002 a0001c0062t0004 others(1): Show a0001c0003t0001 a0001c0025t0002 a0001c0062t0004 a0003c0001t0001	a0001c0003t0001g0068 a0001c0025t0002g0016 a0001c0062t0004g0007 others(3): Show a0001c0003t0001g0068 a0001c0025t0002g0016 a0001c0062t0004g0007 a0003c0001t0001g0010 a0003c0001t0001g0026 a0003c0001t0001g0112	6	228	0.0263	-40	c.245 others(59): Show c.245+11746_245+11785delAAGAGGCTCTCCTCACTTCCTAGATG GGATGGCGGCCAGG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192830	CCGCGCCC others(33): Show CCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02818.hp2 others(6): Show HG02451.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 NA18973.hp2 NA19007.hp2 NA19063.hp1 NA19065.hp2 NA19082.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0007 a0002c0001t0001g0010 a0002c0001t0001g0074 others(6): Show a0002c0001t0001g0007 a0002c0001t0001g0010 a0002c0001t0001g0074 a0002c0001t0001g0076 a0002c0001t0001g0085 a0002c0006t0001g0031 a0002c0006t0001g0084 a0002c0006t0001g0086 a0002c0006t0001g0087	9	406	0.0222	-40	c.-23 others(49): Show c.-239_-200delCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCC CCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		224		chr17	TogoVar
COG3_chr13_45459939_45541701	45485729	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp2 HG03139.hp1 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0012 a0002c0005t0011 a0002c0005t0012	a0002c0005t0011g0150 a0002c0005t0012g0148 a0002c0005t0011g0150 a0002c0005t0012g0148	2	340	0.0059	-40	c.844 others(55): Show c.844-745_844-706delTGATGGCGGCTGGGAAGAGGCGCTCCTCAC TTCCTAGATG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103043034	TAAATACA others(33): Show TAAATACATCATATATATGAAACATATATAATGAATACATG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp2 HG01243.hp1 others(23): Show HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0002 a0002c0001 a0002c0032 others(2): Show a0001c0002 a0002c0001 a0002c0032 a0007c0018 a0011c0037	a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 others(4): Show a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 a0002c0001t0002 a0002c0032t0013 a0007c0018t0001 a0011c0037t0002	a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 others(23): Show a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0104 a0002c0001t0001g0110 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0032t0013g0111 a0007c0018t0001g0023 a0007c0018t0001g0082 a0011c0037t0002g0108	26	182	0.1429	-40	c.652 others(59): Show c.652-11830_652-11791delCATGTATTCATTATATATGTTTCATA TATATGATGTATTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL13A1_chr10_69796906_69964144	69936088	GGAAGGAG others(33): Show GGAAGGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0264 a0002c0024t0003g0264	1	322	0.0031	-40	c.177 others(57): Show c.1771-661_1771-622delGGGAAGGGAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45437820	ACTCACAC others(33): Show ACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0019 a0019	a0019c0067 a0019c0067	a0019c0067t0001 a0019c0067t0001	a0019c0067t0001g0012 a0019c0067t0001g0012	1	290	0.0034	-40	c.107 others(59): Show c.107-30420_107-30381delTCACACTCAGACAAGCACTCTCCTGC ACACACTCACACTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437966	ACACACAC others(33): Show ACACACACACTCACACACTCAGACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(25): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02602.hp2 HG02818.hp1 HG03017.hp2 HG03579.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA19010.hp1 NA19064.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0016	a0001c0003 a0001c0004 a0001c0005 others(8): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0051 a0001c0079 a0004c0033 a0005c0053 a0006c0016 a0016c0040	a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 others(10): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0007t0002 a0001c0025t0002 a0001c0051t0001 a0001c0079t0008 a0004c0033t0001 a0005c0053t0001 a0006c0016t0001 a0016c0040t0001	a0001c0003t0001g0252 a0001c0004t0001g0059 a0001c0004t0001g0063 others(25): Show a0001c0003t0001g0252 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0146 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0025t0002g0147 a0001c0051t0001g0248 a0001c0079t0008g0189 a0004c0033t0001g0121 a0005c0053t0001g0061 a0006c0016t0001g0062 a0016c0040t0001g0095	28	290	0.0966	-40	c.107 others(59): Show c.107-30266_107-30227delTCACACACTCAGACACACAGGCACTC TCCTGCACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63303859	CCAGGTGT others(33): Show CCAGGTGTGCAGGTGTGGGTTCCACCCTCCTCTTCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0043 a0001c0014 a0003c0043	a0001c0014t0003 a0003c0043t0007 a0001c0014t0003 a0003c0043t0007	a0001c0014t0003g0136 a0003c0043t0007g0137 a0001c0014t0003g0136 a0003c0043t0007g0137	2	288	0.0069	-40	c.194 others(57): Show c.194-1535_194-1496delACCCTCCTCTTCTCCCTGCAGGTGTGCA GGTGTGGGTTCC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56121472	ATATATAT others(33): Show ATATATATATACATATACATATATATGTATATTCATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(15): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG02572.hp1 HG02572.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(15): Show a0001c0001t0014g0087 a0001c0002t0002g0196 a0001c0014t0010g0010 a0001c0024t0022g0147 a0003c0005t0007g0119 a0003c0005t0007g0121 a0003c0005t0007g0199 a0003c0005t0007g0201 a0003c0005t0007g0250 a0003c0005t0014g0035 a0003c0006t0007g0198 a0003c0006t0007g0200 a0003c0006t0007g0203 a0003c0006t0007g0204 a0003c0006t0007g0205 a0006c0011t0004g0090 a0006c0011t0004g0091 a0009c0012t0004g0030	18	262	0.0687	-40	c.175 others(59): Show c.1758+2550_1758+2589delCACATATGAATATACATATATATGTA TATGTATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	16/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138660845	CACACACA others(33): Show CACACACATACACAGACACACAAACACACAGACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02559.hp1 HG02809.hp2	a0001 a0001	a0001c0010 a0001c0016 a0001c0010 a0001c0016	a0001c0010t0001 a0001c0016t0001 a0001c0010t0001 a0001c0016t0001	a0001c0010t0001g0109 a0001c0016t0001g0133 a0001c0010t0001g0109 a0001c0016t0001g0133	2	156	0.0128	-40	c.324 others(57): Show c.3241-405_3241-366delATGTGTGTGTCTGTGTGTTTGTGTGTCT GTGTATGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	43/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178269336	CATCCATC others(33): Show CATCCATCCATCCACCCACCCACCCATCCACCCACCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG00738.hp2 others(62): Show HG00280.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18975.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(7): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0009 a0002c0018 a0003c0004 a0003c0007 a0003c0019 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0005t0002 a0001c0005t0005 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0009t0006 a0002c0018t0009 a0003c0004t0002 a0003c0004t0003 a0003c0007t0001 a0003c0019t0010 a0004c0006t0003 a0004c0006t0004	a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0079 others(62): Show a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0189 a0001c0001t0003g0006 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0063 a0001c0001t0004g0069 a0001c0001t0004g0088 a0001c0001t0004g0110 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0185 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0099 a0001c0001t0005g0107 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0001t0014g0224 a0001c0005t0002g0120 a0001c0005t0005g0074 a0001c0005t0005g0102 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0064 a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0011g0038 a0002c0003t0001g0036 a0002c0003t0001g0134 a0002c0003t0001g0152 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0211 a0002c0003t0003g0094 a0002c0003t0004g0077 a0002c0003t0004g0078 a0002c0009t0006g0232 a0002c0018t0009g0233 a0003c0004t0002g0005 a0003c0004t0002g0061 a0003c0004t0002g0163 a0003c0004t0002g0167 a0003c0004t0002g0170 a0003c0004t0003g0145 a0003c0007t0001g0012 a0003c0007t0001g0097 a0003c0007t0001g0098 a0003c0007t0001g0137 a0003c0019t0010g0236 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136	65	236	0.2754	-40	c.469 others(55): Show c.469-620_469-581delAGATGGGTGGGTGGATGGGTGGGTGGGTGG ATGGATGGAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178349497	CCCATCCC others(33): Show CCCATCCCCCATGCCCCACACCTGGCCCTCCCTAGGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(166): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0005 a0002c0002 others(13): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0009 a0002c0013 a0003c0004 a0003c0007 a0003c0019 a0004c0006 a0004c0011 a0005c0008 a0005c0014 a0006c0010 a0008c0015 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0009t0006 a0002c0009t0008 a0002c0013t0003 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005 a0003c0007t0001 a0003c0019t0010 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0005c0014t0002 a0006c0010t0002 a0008c0015t0002 a0009c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0199 others(166): Show a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0199 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0003g0006 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0142 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0003g0182 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0100 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0084 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0001t0014g0224 a0001c0005t0001g0007 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0002g0120 a0001c0005t0004g0023 a0001c0005t0004g0111 a0001c0005t0004g0223 a0001c0005t0005g0102 a0002c0002t0001g0001 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0005g0160 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0001g0129 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0076 a0002c0003t0002g0138 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0126 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0168 a0002c0003t0003g0173 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0005g0131 a0002c0003t0005g0146 a0002c0003t0005g0151 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0003t0013g0114 a0002c0009t0006g0232 a0002c0009t0008g0235 a0002c0013t0003g0124 a0003c0004t0002g0005 a0003c0004t0002g0061 a0003c0004t0002g0163 a0003c0004t0002g0167 a0003c0004t0002g0170 a0003c0004t0003g0125 a0003c0004t0003g0127 a0003c0004t0003g0145 a0003c0004t0003g0220 a0003c0004t0005g0132 a0003c0004t0005g0208 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0044 a0003c0007t0001g0097 a0003c0007t0001g0098 a0003c0007t0001g0154 a0003c0019t0010g0236 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0143 a0004c0006t0003g0171 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0086 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0093 a0005c0008t0002g0095 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0014t0002g0017 a0006c0010t0002g0117 a0008c0015t0002g0109 a0009c0012t0002g0162	169	236	0.7161	-40	c.362 others(59): Show c.362-42618_362-42579delCCCTGCCTAGGGAGGGCCAGGTGTGG GGCATGGGGGATGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518633	AGAGACGC others(33): Show AGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01243.hp2 others(21): Show HG01106.hp2 HG01243.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005	a0001c0001t0002g0079 a0001c0001t0003g0067 a0001c0001t0003g0070 others(21): Show a0001c0001t0002g0079 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0004g0065 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0118 a0001c0001t0014g0224 a0002c0002t0001g0019 a0002c0002t0001g0101 a0002c0002t0005g0160 a0002c0002t0009g0225 a0002c0003t0001g0036 a0002c0003t0001g0152 a0002c0003t0002g0140 a0002c0003t0003g0173 a0002c0003t0005g0066 a0002c0003t0005g0131 a0003c0004t0002g0167 a0003c0004t0002g0170 a0003c0004t0003g0156 a0003c0004t0005g0132	24	236	0.1017	-40	c.361 others(59): Show c.361+42009_361+42048delCGCCCGGCCGCCATCCCATCTAGGAA GTGAGGAGCGTCTC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547610	CCCCCCAC others(33): Show CCCCCCACACACACCCACCCACACCCCCCCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG03471.hp1 HG02895.hp2 HG03130.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0004c0006t0003 a0001c0001t0003 a0001c0001t0005 a0004c0006t0003	a0001c0001t0003g0182 a0001c0001t0005g0113 a0004c0006t0003g0128 a0001c0001t0003g0182 a0001c0001t0005g0113 a0004c0006t0003g0128	3	236	0.0127	-40	c.361 others(59): Show c.361+13032_361+13071delTGTGTGTGTGTGGGGGGGTGTGGGTG GGTGTGTGTGGGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(33): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0101 a0002c0004t0001g0101	1	162	0.0062	-40	c.385 others(59): Show c.385+41877_385+41916delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A4_chr2_226997714_227169205	227041759	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0219 a0002c0002t0005g0219	1	278	0.0036	-40	c.350 others(57): Show c.3505+349_3505+388delTTTCTTTCTTTCCCTTCCTTCCTTCCTT CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	245	0.0041	-40	c.350 others(57): Show c.3505+337_3505+376delTTTCTTCCTTTCTTTCTTTCTTTCCCTT CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(33): Show GAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	247	0.0040	-40	c.350 others(57): Show c.3505+333_3505+372delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134636860	CCACTGGC others(33): Show CCACTGGCCAGAGTCCCCTCTCACTGGCCAGGGTCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	270	0.0037	-40	c.-53 others(51): Show c.-5327_-5288delCACTGGCCAGAGTCCCCTCTCACTGGCCAGGGTC CCCTCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4942		chr9	TogoVar

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