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
CDH1_chr16_68732292_68840537	68745557	T T	TATATATA others(40): Show TATATATATGTATATATATATATATATGTATATATATATGTATGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	251	0.0040	47	c.163 others(64): Show c.163+7152_163+7153insATGTATATATATATATATATGTATATAT ATATGTATGTGTAATATAT	CDH1	ENSG00000039068.20	transcript	ENST00000261769.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH4_chr20_61247261_61945617	61914519	T T	TGGAATCA others(40): Show TGGAATCAACTGAGATCGGTACAGGCTCAGCCTCAGCAGAATCACCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03195.hp2 others(1): Show HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0039 a0001c0003t0040 others(1): Show a0001c0003t0016 a0001c0003t0039 a0001c0003t0040 a0001c0003t0041	a0001c0003t0016g0066 a0001c0003t0039g0063 a0001c0003t0040g0073 others(1): Show a0001c0003t0016g0066 a0001c0003t0039g0063 a0001c0003t0040g0073 a0001c0003t0041g0086	4	92	0.0435	47	c.137 others(66): Show c.1374+3921_1374+3922insTGAGATCGGTACAGGCTCAGCCTCAG CAGAATCACCCCGGAATCAAC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH7_chr18_65746012_65895337	65782021	T T	TCTCTCCT others(40): Show TCTCTCCTCTTTCTCTCTTTCTCCCTTTCTCCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0043 a0002c0014t0043	a0002c0014t0043g0105 a0002c0014t0043g0105	1	197	0.0051	47	c.210 others(66): Show c.210+18971_210+18972insCTCCTCTTTCTCTCTTTCTCCCTTTC TCCCTTCCTTCCTTCCTTCCT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65782028	C C	CTCTTTCT others(40): Show CTCTTTCTCCCTTTCTCCCTTCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0026 a0002c0015t0026	a0002c0015t0026g0001 a0002c0015t0026g0001	1	122	0.0082	47	c.210 others(66): Show c.210+18976_210+18977insTCTTTCTCCCTTTCTCCCTTCTTCCT TCCTTCCTTCCTTCCTTCCTT	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CDK20_chr9_87961441_87979533	87970319	C C	CCATCTAA others(40): Show CCATCTAACGCTCAGGCTGCACTATCGCCATCAGTACCTCAGCACTAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0075 a0006c0009t0002g0075	1	438	0.0023	47	c.563 others(62): Show c.563+248_563+249insATAGTGCTGAGGTACTGATGGCGATAGTGC AGCCTGAGCGTTAGATG	CDK20	ENSG00000156345.18	transcript	ENST00000325303.9	protein_coding	5/7			chr9	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0155 a0001c0003t0022g0155	1	8	0.1250	47	c.272 others(66): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAAGAAGGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAGG others(40): Show AAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0084 a0001c0002t0017g0084	1	8	0.1250	47	c.272 others(66): Show c.272-20398_272-20397insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(18): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG01109.hp1 HG01258.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0004t0010 a0001c0006t0042	a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0092 others(18): Show a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0003g0169 a0001c0001t0004g0138 a0001c0001t0004g0179 a0001c0001t0008g0186 a0001c0001t0050g0173 a0001c0002t0001g0107 a0001c0002t0001g0112 a0001c0002t0001g0184 a0001c0002t0004g0120 a0001c0002t0008g0028 a0001c0004t0001g0091 a0001c0004t0010g0018 a0001c0004t0010g0019 a0001c0006t0042g0190	21	28	0.7500	47	c.272 others(66): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG03139.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0007 a0001c0001t0021 a0001c0004t0007	a0001c0001t0021g0017 a0001c0004t0007g0045 a0001c0004t0007g0059 a0001c0001t0021g0017 a0001c0004t0007g0045 a0001c0004t0007g0059	3	10	0.3000	47	c.272 others(66): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF5_chr19_3219661_3302076	3299550	C C	CTTCTTCT others(40): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0144 a0001c0007t0002g0144	1	258	0.0039	47	c.28 others(58): Show c.2833_*2834insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2475		chr19	TogoVar
CENPW_chr6_126335115_126353875	126347322	T T	TTAGAGTT others(40): Show TTAGAGTTCCCATGTACCCTGTATCCAGTTTCTCATAATCCTAATGTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	290	0.0034	47	c.240 others(64): Show c.240+1006_240+1052dupAGAGTTCCCATGTACCCTGTATCCAGTT TCTCATAATCCTAATGTCT	CENPW	ENSG00000203760.9	transcript	ENST00000368328.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(40): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19060.hp2 HG01891.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0238 a0001c0001t0002g0017 a0001c0001t0002g0238	2	356	0.0056	47	c.845 others(64): Show c.845+2546_845+2547insAGAGAGAGAGAGAGAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466839	C C	CTTTCTCT others(40): Show CTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19086.hp2 NA18969.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0269 a0001c0001t0002g0022 a0001c0001t0002g0269	2	355	0.0056	47	c.845 others(64): Show c.845+2538_845+2539insAGAGAGAAAGAGAGAGAGAGAGAGAGAG AAAGAGAGAAAGAGAGAAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466848	T T	TTTCTCTC others(40): Show TTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18939.hp2 HG01515.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0094 a0001c0001t0002g0030 a0001c0001t0002g0094	2	360	0.0056	47	c.845 others(64): Show c.845+2529_845+2530insGAGAGAGAAAGAGAGAAAGAGAGAGAGA GAGAGAGAGAAAGAGAGAA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100466849	T T	TTCTCTCT others(40): Show TTCTCTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	336	0.0030	47	c.845 others(64): Show c.845+2528_845+2529insGAAGAGAGAAAGAGAGAAAGAGAGAGAG AGAGAGAGAGAAAGAGAGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(40): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0019 a0019	a0019c0054 a0019c0054	a0019c0054t0003 a0019c0054t0003	a0019c0054t0003g0089 a0019c0054t0003g0089	1	276	0.0036	47	c.112 others(66): Show c.1126-1504_1126-1503insAAAAAAAAAAAAAAAAAAAGAAAAAA AAAAAAGAAAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP52_chr17_9571642_9648447	9622549	A A	AAGAAGAA others(40): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0214 a0001c0005t0004g0214	1	314	0.0032	47	c.102 others(66): Show c.1026-6122_1026-6121insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP74_chr1_1916957_2008786	1948919	T T	TCCTTCCT others(40): Show TCCTTCCTTCCTCTTTCCCTCCCTTCTTTCCTTCCCTTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0034 a0034	a0034c0093 a0034c0093	a0034c0093t0001 a0034c0093t0001	a0034c0093t0001g0072 a0034c0093t0001g0072	1	276	0.0036	47	c.217 others(66): Show c.2177-1866_2177-1865insGAGGGAGGGAAAGGGAAGGAAAGAAG GGAGGGAAAGAGGAAGGAAGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	18/38			chr1	TogoVar
CFI_chr4_109735695_109806999	109753580	T T	TATATAAT others(40): Show TATATAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0138 a0001c0002t0001g0138	1	241	0.0041	47	c.905 others(64): Show c.905-1078_905-1077insTAAAATTATACATTAGATAATATATAAT ATAAAATTATACATTATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	92	0.0109	47	c.51 others(58): Show c.5128_*5129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CHI3L1_chr1_203173931_203191704	203188788	G G	GTCGAGAG others(40): Show GTCGAGAGTTTAGATGAACTCATATCTTCATGATGATCTAAAAATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	466	0.0021	47	c.-21 others(58): Show c.-2166_-2165insACTATTTTTAGATCATCATGAAGATATGAGTTCA TCTAAACTCTCGA	CHI3L1	ENSG00000133048.13	transcript	ENST00000255409.8	protein_coding		2085		chr1	TogoVar
CHODL_chr21_18239833_18272370	18248554	T T	TTACATTA others(40): Show TTACATTACCTTTATAAAAGGTAATGTATTTTATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0243 a0001c0001t0012g0243	1	400	0.0025	47	c.79+ others(62): Show c.79+3255_79+3301dupCATTACCTTTATAAAAGGTAATGTATTTTA TATATATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRM3_chr1_239381568_239920450	239662911	T T	TTCTTCTT others(40): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0086 a0001c0001t0032g0086	1	114	0.0088	47	c.-24 others(68): Show c.-249-15254_-249-15253insTCTTCTTCTTCTTCTTCTTCTTCT TCTCTTCTTCTTCTTCTTCTTCT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNB3_chr8_42692366_42742407	42703435	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	167	0.0060	47	c.53- others(62): Show c.53-5281_53-5280insAAAAAAATATATATATATATATATATATAT ATATATATATATATATA	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHST8_chr19_33616953_33778506	33757387	G G	GAAGAAAA others(40): Show GAAGAAAAGAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	179	0.0056	47	c.131 others(66): Show c.131-14020_131-14019insAGAAGAAAGAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108553894	T T	TACAAAAA others(40): Show TACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0331 a0001c0001t0004g0331	1	117	0.0085	47	c.232 others(64): Show c.2325-165_2325-164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	18/20			chr3	TogoVar
CLDN8_chr21_30209006_30221097	30210292	T T	TATATATA others(40): Show TATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	47	c.49 others(58): Show c.4955_*4956insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3713		chr21	TogoVar
CLEC2B_chr12_9847369_9874354	9850145	T T	TCAAATGA others(40): Show TCAAATGATCCTCCTGCCTCAGCTTCCCAAGTAGCTGGAATTGCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0141	1	452	0.0022	47	c.31 others(58): Show c.3154_*3155insGCCTGCAATTCCAGCTACTTGGGAAGCTGAGGCA GGAGGATCATTTG	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding		2223		chr12	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	ATATGCAT others(40): Show ATATGCATATATATATATGTATATATATATATATACGTATATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0057 a0002c0002t0050g0057	1	263	0.0038	47	c.10 others(60): Show c.10892_*10893insACATATATATACGTATATATATATATATACAT ATATATATATGCATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CNGA1_chr4_47930977_48021681	47944187	A A	AAGTATCA others(40): Show AAGTATCACTAAGGCCTCAAAGATCACAAAGATACTAAGTGATCACTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	364	0.0027	47	c.288 others(62): Show c.288-776_288-775insAAGTGATCACTTAGTATCTTTGTGATCTTT GAGGCCTTAGTGATACT	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	6/10			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77715792	T T	TAAAGGTG others(40): Show TAAAGGTGAGCATATCATTCTATAAAATGAAAGATGCTCTTGGCATCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0182 a0001c0001t0037g0182	1	326	0.0031	47	c.45 others(58): Show c.4592_*4638dupGGATGCCAAGAGCATCTTTCATTTTATAGAATGA TATGCTCACCTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	12/12	4638		chr4	TogoVar
CNTLN_chr9_17130040_17508923	17393705	T T	TTACAAAC others(40): Show TTACAAACAATAACACTTATTATTAATAAGATCTAAATGTAAGTCAAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	216	0.0046	47	c.208 others(64): Show c.2080-827_2080-781dupACAAACAATAACACTTATTATTAATAAG ATCTAAATGTAAGTCAACT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	14/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(40): Show GAAGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03239.hp1 HG02976.hp1 HG03239.hp1	a0001 a0005 a0001 a0005	a0001c0015 a0005c0007 a0001c0015 a0005c0007	a0001c0015t0001 a0005c0007t0017 a0001c0015t0001 a0005c0007t0017	a0001c0015t0001g0011 a0005c0007t0017g0031 a0001c0015t0001g0011 a0005c0007t0017g0031	2	22	0.0909	47	c.189 others(68): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373247	G G	GAATATAT others(40): Show GAATATATTCCACATAAATAGGTGAATATATTCCACATATATATGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp1 HG03098.hp1 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0028 a0003c0003t0007 a0002c0002t0028 a0003c0003t0007	a0002c0002t0028g0239 a0003c0003t0007g0260 a0002c0002t0028g0239 a0003c0003t0007g0260	2	265	0.0075	47	c.390 others(66): Show c.390+17751_390+17752insAATAGGTGAATATATTCCACATATAT ATGTGAAATATATTCCACATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0018 a0002c0002t0005g0018	1	104	0.0096	47	c.133 others(66): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG6_chr13_39650662_39757628	39757120	T T	TTTCCCCT others(40): Show TTTCCCCTCAATGACATTGTAATAAAAGGAATTTTTTAATATACTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0287 a0002c0002t0006g0287	1	368	0.0027	47	c.60 others(58): Show c.6027_*6028insTTCCCCTCAATGACATTGTAATAAAAGGAATTTT TTAATATACTTAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		4493		chr13	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(40): Show GCTGCGGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0215 a0001c0006t0003g0215	1	93	0.0108	47	c.11+ others(58): Show c.11+55_11+56insGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCG GGTCCTGCGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405287	G G	GCTGCGGG others(40): Show GCTGCGGGGGTCGCGGGGCTGCGGGGGGTCGCGGGGCTCGGCCGGGTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0251 a0001c0090t0001g0251	1	93	0.0108	47	c.11+ others(58): Show c.11+63_11+64insCTGCGGGGGGTCGCGGGGCTCGGCCGGGTCCTGC GGGGGTCGCGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500221	A A	ATAGTGTG others(40): Show ATAGTGTGGAGGTGTGAGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(113): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18990.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0012 a0014 a0016 a0017 a0019 a0022 a0023 a0024 a0026 a0027 a0031 a0033	a0001c0001 a0001c0002 a0001c0003 others(43): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0026 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0051 a0001c0052 a0001c0054 a0001c0060 a0001c0066 a0001c0079 a0001c0084 a0001c0086 a0001c0090 a0002c0012 a0002c0020 a0002c0064 a0002c0100 a0003c0088 a0003c0096 a0003c0097 a0005c0053 a0007c0018 a0007c0098 a0009c0014 a0011c0049 a0011c0099 a0012c0037 a0014c0082 a0016c0040 a0017c0089 a0019c0067 a0022c0046 a0023c0047 a0024c0065 a0026c0056 a0027c0083 a0031c0063 a0033c0094	a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 others(47): Show a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0005t0006 a0001c0007t0002 a0001c0025t0002 a0001c0026t0001 a0001c0031t0001 a0001c0032t0002 a0001c0034t0001 a0001c0035t0001 a0001c0051t0001 a0001c0052t0002 a0001c0054t0002 a0001c0060t0001 a0001c0066t0005 a0001c0079t0008 a0001c0084t0001 a0001c0086t0001 a0001c0090t0001 a0002c0012t0004 a0002c0020t0003 a0002c0064t0001 a0002c0100t0001 a0003c0088t0001 a0003c0096t0003 a0003c0097t0001 a0005c0053t0001 a0007c0018t0005 a0007c0098t0005 a0009c0014t0001 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0014c0082t0002 a0016c0040t0001 a0017c0089t0011 a0019c0067t0001 a0022c0046t0004 a0023c0047t0004 a0024c0065t0010 a0026c0056t0001 a0027c0083t0002 a0031c0063t0010 a0033c0094t0001	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 others(113): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0002t0012g0088 a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0049 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0092 a0001c0003t0001g0156 a0001c0003t0001g0167 a0001c0003t0001g0179 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0225 a0001c0003t0001g0249 a0001c0003t0001g0252 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0261 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0016g0185 a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0089 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0278 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0221 a0001c0005t0002g0227 a0001c0005t0002g0242 a0001c0005t0002g0272 a0001c0005t0006g0157 a0001c0005t0006g0222 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0025t0002g0147 a0001c0026t0001g0182 a0001c0026t0001g0183 a0001c0031t0001g0130 a0001c0031t0001g0134 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0034t0001g0050 a0001c0034t0001g0051 a0001c0035t0001g0033 a0001c0035t0001g0145 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0054t0002g0169 a0001c0060t0001g0142 a0001c0066t0005g0036 a0001c0079t0008g0189 a0001c0084t0001g0023 a0001c0086t0001g0098 a0001c0090t0001g0251 a0002c0012t0004g0029 a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 a0002c0020t0003g0144 a0002c0064t0001g0040 a0002c0100t0001g0116 a0003c0088t0001g0024 a0003c0096t0003g0020 a0003c0097t0001g0037 a0005c0053t0001g0061 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112 a0007c0098t0005g0017 a0009c0014t0001g0258 a0009c0014t0001g0266 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0014c0082t0002g0085 a0016c0040t0001g0095 a0017c0089t0011g0193 a0019c0067t0001g0012 a0022c0046t0004g0164 a0023c0047t0004g0163 a0024c0065t0010g0004 a0026c0056t0001g0091 a0027c0083t0002g0154 a0031c0063t0010g0044 a0033c0094t0001g0034	116	287	0.4042	47	c.268 others(66): Show c.2683+2593_2683+2594insTTGTGTTGGGTGTGTAGTGTGGAGGT GTGAGGGGGTGTGTGGAGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500236	G G	GAGGGGGT others(40): Show GAGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTGTAGTGTGGAGGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	290	0.0034	47	c.268 others(66): Show c.2683+2593_2683+2594insTTGTGTTGGGTGTGTAGTGTGGAGGT GTAAGGGGGTGTGTGGAGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110506267	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCGGGCTGCAGGTGCACCAGGCCGTCCACTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp2 HG03209.hp2 others(2): Show HG01891.hp2 HG02572.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0041 a0002c0055 others(1): Show a0001c0022 a0002c0041 a0002c0055 a0002c0121	a0001c0022t0018 a0002c0041t0002 a0002c0041t0018 others(2): Show a0001c0022t0018 a0002c0041t0002 a0002c0041t0018 a0002c0055t0016 a0002c0121t0016	a0001c0022t0018g0173 a0002c0041t0002g0369 a0002c0041t0018g0003 others(2): Show a0001c0022t0018g0173 a0002c0041t0002g0369 a0002c0041t0018g0003 a0002c0055t0016g0250 a0002c0121t0016g0238	5	286	0.0175	47	c.440 others(64): Show c.4403-137_4403-136insGGGCTGCAGGTGCACCAGGCCGTCCACT CTCTCTCCCTCTCTCTCTC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	56	0.0179	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTTTTT	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(40): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0128 a0005c0005t0002g0128	1	56	0.0179	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	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(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03239.hp2 HG04184.hp1 HG02273.hp1 HG03239.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0011 a0001c0001 a0003c0002 a0003c0011	a0001c0001t0001 a0003c0002t0004 a0003c0011t0020 a0001c0001t0001 a0003c0002t0004 a0003c0011t0020	a0001c0001t0001g0033 a0003c0002t0004g0277 a0003c0011t0020g0302 a0001c0001t0001g0033 a0003c0002t0004g0277 a0003c0011t0020g0302	3	58	0.0517	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT	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(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	56	0.0179	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	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(40): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03654.hp2 NA20905.hp2 HG02683.hp1 HG03654.hp2 NA20905.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0024 a0001c0001 a0015c0024	a0001c0001t0002 a0015c0024t0002 a0001c0001t0002 a0015c0024t0002	a0001c0001t0002g0035 a0001c0001t0002g0093 a0015c0024t0002g0232 a0001c0001t0002g0035 a0001c0001t0002g0093 a0015c0024t0002g0232	3	58	0.0517	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	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(40): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	56	0.0179	47	c.546 others(62): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45987886	G G	GGTCCAGA others(40): Show GGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0016 a0001c0017t0003g0016	1	110	0.0091	47	c.804 others(62): Show c.804+248_804+249insCGGCGGGGTCCAGATGGAGGGGACGGCGGG AGTCCAGATGGAGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987980	C C	CTCCAGAT others(40): Show CTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0061 a0003c0004t0001g0061	1	95	0.0105	47	c.804 others(62): Show c.804+349_804+395dupAGTCCAGATGGAGGGGACGGCGGGGTCCAG ATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988004	G G	GTCCAGAT others(40): Show GTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0064 a0003c0004t0001g0064	1	120	0.0083	47	c.804 others(62): Show c.804+390_804+391insTCGGGGCTCCAGATGGAGGGGACGGCGGGG TCCAGATGGAGGGGACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar

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