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
ADARB2_chr10_1172313_1742525	1237039	TGCCTCCC others(209): Show TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTG CCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCC TCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTC CGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	-216	c.136 others(19): Show c.1362-3410_1362-3195del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237040	GCCTCCCG others(209): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGC CTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCT CCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCC GGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	92	0.0109	-216	c.136 others(19): Show c.1362-3411_1362-3196del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237061	TCTGCCTC others(209): Show TCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCC TGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCC TCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTC CCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 NA20129.hp2 HG00438.hp1 HG02040.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0002c0016 a0001c0001 a0002c0014 a0002c0016	a0001c0001t0011 a0002c0014t0008 a0002c0016t0006 a0001c0001t0011 a0002c0014t0008 a0002c0016t0006	a0001c0001t0011g0017 a0002c0014t0008g0060 a0002c0016t0006g0010 a0001c0001t0011g0017 a0002c0014t0008g0060 a0002c0016t0006g0010	3	95	0.0316	-216	c.136 others(19): Show c.1362-3432_1362-3217del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237496	GCCTCCCG others(209): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCT CCCGGTGTTTACTCCCATCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0083 a0001c0001t0054g0083	1	77	0.0130	-216	c.136 others(19): Show c.1362-3867_1362-3652del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGEF7_chr13_111110310_111310732	111221218	TATATATA others(209): Show TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA TAGATATATATGTCTATATATATCTATATATATGTCTATATATATATCTA TATATATATCTATATATATAGATGTCTATATATCTATATATATAGATGTC TATATATCTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	241	0.0041	-216	c.670 others(17): Show c.670+3347_670+3562del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
BANP_chr16_87946434_88082316	88000772	ACGGCTGT others(209): Show ACGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCAC GCACATGCGCGGCTGGACTTACCTGTCCTTCCAGACGTGTCTCCATGCAC GCACGTGCGCGGCTGTACTTGCCTGTCCTTCCAGACACCCAGACACGTCT CCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCT CCATGCCCGCACGTGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02809.hp1 others(2): Show HG01891.hp2 HG02280.hp2 HG02809.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0004 a0001c0008t0001 a0001c0008t0004	a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 others(2): Show a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0340 a0001c0008t0004g0145	5	350	0.0143	-216	c.363 others(17): Show c.363-3508_363-3293del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BRF1_chr14_105204286_105306001	105272012	GTCCACGC others(209): Show GTCCACGCACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCGGCCTCCCC GCCCACCGCCTGCAGTCACGGTGTCCACGCACAAGGCCAAGCTGCACACC GCTGAGGGTCGGGGGCCTCCTCGCCCACCGCCTGCGGTCACGGTGTCCAC ACACAAGGCCAAGCTGCACACCGCTGAGGGTCGGCGGCCTCCCCACCCAC GGCCTGCAGTCACGGTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	70	0.0143	-216	c.439 others(15): Show c.439+493_439+708del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	3/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1412250	CGGTGGGT others(209): Show CGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTC TCAGCTGCGCCGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCC CCGTCCTGCGGTGGGTGGAGTCTCAGCTGCGCCGCCCCGTCCTGCGGTGG GTGGAGTCTGAGCTGCGCTGCCCCGTCCTGCGGTGGGTGGAGTCTCAGCT GCGCCGCCCCGTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0016 a0002c0002t0015g0016	1	358	0.0028	-216	c.91+ others(17): Show c.91+21896_91+22111del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSPH1_chr19_47963046_47997170	47991605	CTCCCCCT others(209): Show CTCCCCCTCTTCCTCCTCTTCCCTCCTCCTCCTCCTTCCCCTCCTCCTCC GTCTGCTCCTCCTCCCCCTCCTCCTCTTCCTTCTCTTTCTCCCCTCCTCC TCTCCTCCTCCTTCTTCCTACTCTCCCTCATTCCCCTCCTTCTCTCCCTC CTCCTCTTCCTTCTTCACCTCCTCCCCCCTTCTCCCCCCTTTCCCTCTTT CTCCCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	442	0.0023	-216	c.73+ others(13): Show c.73+188_73+403del	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/5			chr19	TogoVar
CABLES1_chr18_23130485_23265470	23218324	CCTCCCGC others(209): Show CCTCCCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGGC TCCCGCATCCTCACTTGCCCTGGTTCCCGCATCCTCACTTGCCCTGCCTC CCGCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCC GCATCCTCACTTGCCCTGCCTCCCGCATCCTCACTTGCCCTGCCTCCCGC ATCCTCACTTGCCCTGG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	224	0.0045	-216	c.108 others(19): Show c.1088+4318_1088+4533del	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNG7_chr19_53904278_53948950	53921997	CATTGGTG others(209): Show CATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGG CCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCC AGGCCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTG TCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	364	0.0027	-216	c.424 others(17): Show c.424+6542_424+6757del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85768974	TAGTATAT others(209): Show TAGTATATATACACATATATACATATATAGTATATATACACATATATACA TATATAGTATATATACACATATATACATATATAGTATATATACACATATA TACATATATAGTATATATACACATATATACATATATGTATATATACACAT ATATACATATATAGTATATATACACATATATACATATATAGTATATATAC ACATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp2 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0100 a0001c0001t0008g0101 a0001c0001t0002g0100 a0001c0001t0008g0101	2	146	0.0137	-216	c.89- others(17): Show c.89-33072_89-32857del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9			chr3	TogoVar
CAMK2B_chr7_44212154_44330594	44227325	GGGGGTGT others(209): Show GGGGGTGTGGGGGACAGAAGGGGGTGTGGAAGACAGGAGGTGTGGGGGAC AGACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTG GGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGG GGTATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGGACAGAGG GGGATATGGGGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0008 a0004c0016t0004g0008	1	240	0.0042	-216	c.146 others(17): Show c.1469-897_1469-682del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCNF_chr16_2424447_2463854	2442437	ATAATATA others(209): Show ATAATATATAATATTATATAATATAATATTATTATATATAATATATAATA TTATATAATATAATATTATTATATATAATATATAATATTATATAATATAA TATTATTATATATAATATATAATATTATATAATATAATATTATTATATAT AATATATAATATTATATAATATAATATTATATATAATATATAATATTATA TAATATAATATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp1 HG02280.hp2 others(7): Show HG01346.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02970.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 others(7): Show a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258	10	274	0.0365	-216	c.778 others(16): Show c.778-1211_778-996del	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16			chr16	TogoVar
CFAP221_chr2_119539449_119661661	119552614	TAGAAATA others(209): Show TAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTT TAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGA AATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTAATAAGA AATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTC TTTAATAAGAAATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG03209.hp2 others(8): Show HG01496.hp2 HG02630.hp1 HG03209.hp2 HG03486.hp2 NA18964.hp2 NA18965.hp2 NA19001.hp2 NA19056.hp2 NA19066.hp1 NA19068.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0004c0010t0001 a0001c0001t0001 a0001c0001t0002 a0004c0010t0001	a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0118 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0213 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0004c0010t0001g0005 a0004c0010t0001g0007	11	224	0.0491	-216	c.240 others(17): Show c.240+3463_240+3678del	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(209): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02683.hp1 HG02886.hp2 others(5): Show HG02622.hp2 HG02683.hp1 HG02886.hp2 HG03239.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 NA20300.hp2	a0003 a0007 a0024 others(1): Show a0003 a0007 a0024 a0050	a0003c0002 a0003c0033 a0007c0055 others(2): Show a0003c0002 a0003c0033 a0007c0055 a0024c0022 a0050c0051	a0003c0002t0001 a0003c0033t0001 a0007c0055t0001 others(2): Show a0003c0002t0001 a0003c0033t0001 a0007c0055t0001 a0024c0022t0001 a0050c0051t0001	a0003c0002t0001g0220 a0003c0002t0001g0233 a0003c0002t0001g0234 others(5): Show a0003c0002t0001g0220 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0033t0001g0218 a0007c0055t0001g0081 a0024c0022t0001g0215 a0024c0022t0001g0217 a0050c0051t0001g0102	8	251	0.0319	-216	c.909 others(19): Show c.9097-1867_9097-1652del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(209): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(51): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 NA18954.hp1 NA18964.hp1 NA18971.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19090.hp2 NA21309.hp2	a0002 a0003 a0004 others(9): Show a0002 a0003 a0004 a0007 a0015 a0020 a0039 a0044 a0051 a0056 a0058 a0063	a0002c0003 a0003c0002 a0003c0016 others(17): Show a0002c0003 a0003c0002 a0003c0016 a0003c0072 a0004c0005 a0004c0011 a0004c0042 a0004c0081 a0004c0085 a0004c0088 a0007c0009 a0007c0087 a0015c0030 a0020c0024 a0039c0064 a0044c0074 a0051c0083 a0056c0065 a0058c0092 a0063c0070	a0002c0003t0001 a0003c0002t0001 a0003c0016t0001 others(17): Show a0002c0003t0001 a0003c0002t0001 a0003c0016t0001 a0003c0072t0001 a0004c0005t0001 a0004c0011t0001 a0004c0042t0001 a0004c0081t0001 a0004c0085t0001 a0004c0088t0001 a0007c0009t0001 a0007c0087t0001 a0015c0030t0001 a0020c0024t0001 a0039c0064t0001 a0044c0074t0001 a0051c0083t0001 a0056c0065t0001 a0058c0092t0001 a0063c0070t0001	a0002c0003t0001g0159 a0002c0003t0001g0255 a0002c0003t0001g0256 others(51): Show a0002c0003t0001g0159 a0002c0003t0001g0255 a0002c0003t0001g0256 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0219 a0003c0002t0001g0221 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0235 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0245 a0003c0002t0001g0247 a0003c0002t0001g0250 a0003c0002t0001g0251 a0003c0002t0001g0265 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0016t0001g0246 a0003c0072t0001g0236 a0004c0005t0001g0007 a0004c0005t0001g0021 a0004c0005t0001g0080 a0004c0005t0001g0088 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0103 a0004c0005t0001g0237 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0042t0001g0089 a0004c0081t0001g0123 a0004c0085t0001g0147 a0004c0088t0001g0140 a0007c0009t0001g0035 a0007c0009t0001g0038 a0007c0009t0001g0043 a0007c0009t0001g0044 a0007c0009t0001g0104 a0007c0087t0001g0178 a0015c0030t0001g0192 a0020c0024t0001g0010 a0020c0024t0001g0109 a0039c0064t0001g0209 a0044c0074t0001g0231 a0051c0083t0001g0125 a0056c0065t0001g0212 a0058c0092t0001g0160 a0063c0070t0001g0230	54	189	0.2857	-216	c.909 others(19): Show c.9097-1840_9097-1625del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827174	ATGTGCAG others(209): Show ATGTGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATA TATAATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGAT TATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATG TGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTA TATGTGATTATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0094 a0021c0023t0001g0094	1	198	0.0051	-216	c.909 others(19): Show c.9097-1813_9097-1598del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHD5_chr1_6096787_6185321	6160231	AGAAGGGC others(209): Show AGAAGGGCCCCAGCCAGAGAAGGAGAGCCCCAGCCAGGGAAGGGCCCCAG CCAGAGAAGAAGAACCCCAGCCAGGGAAGGGCCCCAGCCAGGGAAGGGCC CCAGCAAGGGAAGAGCCCCAGCCAGGGAAGGGCCCCAGCCAGAGAAGAAG AGCCCTAGCCAGGGAAGGGCCCCAGCCAGAGAAGGGCCCCAGCCAGAGAA GGAGAGCCCCAGCCAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA21309.hp2 HG01346.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0006 a0001c0016 a0002c0006	a0001c0016t0015 a0002c0006t0001 a0001c0016t0015 a0002c0006t0001	a0001c0016t0015g0003 a0002c0006t0001g0064 a0001c0016t0015g0003 a0002c0006t0001g0064	2	313	0.0064	-216	c.208 others(15): Show c.208-932_208-717del	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CLN8_chr8_1758789_1791570	1763428	GCCGCGCC others(209): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCC CCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCG CCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	412	0.0024	-216	c.-58 others(9): Show c.-580_-365del	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		360		chr8	TogoVar
CNST_chr1_246561456_246673595	246620149	ACTACAGG others(209): Show ACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCTGG GCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCT CTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATG GGCTCTGGGAACACTACAGGGAGGACGGCTTCAGTCGTGCATACACACGA TGGGCTCTGGGAACACT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02896.hp2 NA19009.hp1 others(1): Show HG01169.hp1 HG02896.hp2 NA19009.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0014 a0004c0004t0003 a0001c0001t0003 a0001c0001t0014 a0004c0004t0003	a0001c0001t0003g0083 a0001c0001t0003g0104 a0001c0001t0014g0162 others(1): Show a0001c0001t0003g0083 a0001c0001t0003g0104 a0001c0001t0014g0162 a0004c0004t0003g0182	4	276	0.0145	-216	c.380 others(17): Show c.380-1259_380-1044del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL18A1_chr21_45400165_45518720	45501775	CCAGGGGC others(209): Show CCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGG CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC CTCTGCAGAAGGACCCT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	258	0.0039	-216	c.268 others(19): Show c.2684-2210_2684-1995del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501868	CTTCAAAG others(209): Show CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGT CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC CTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGC CGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02451.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0095 a0002c0012 a0001c0095 a0002c0012	a0001c0095t0001 a0002c0012t0004 a0001c0095t0001 a0002c0012t0004	a0001c0095t0001g0006 a0002c0012t0004g0180 a0001c0095t0001g0006 a0002c0012t0004g0180	2	290	0.0069	-216	c.268 others(19): Show c.2684-2142_2684-1927del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
CROCC2_chr2_240901336_240998311	240985516	ACACACAC others(209): Show ACACACACACCCAGGCACTCACTCCACACACACACACCCAGGCACTCACT GCACACACCCAGCACACACACCCAGGCACTCACTCCACACACACCCAGAC ACTCACTCCACACACACCCAGGCACTCACTCCACACACACCCAGCACACA CACCCAGGCACTCACTCCACACACACCCAGGCACTCACTCCACACACACA CACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(101): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02155.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0002 a0003 a0007 others(14): Show a0002 a0003 a0007 a0009 a0011 a0012 a0015 a0016 a0018 a0025 a0029 a0035 a0047 a0053 a0055 a0057 a0059	a0002c0002 a0002c0011 a0002c0012 others(22): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0007c0007 a0007c0046 a0009c0009 a0011c0019 a0011c0042 a0011c0045 a0012c0013 a0015c0015 a0016c0061 a0016c0092 a0018c0016 a0025c0037 a0029c0072 a0035c0032 a0047c0069 a0053c0058 a0055c0081 a0057c0031 a0059c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(27): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0007c0007t0001 a0007c0007t0003 a0007c0046t0001 a0009c0009t0001 a0009c0009t0002 a0009c0009t0005 a0011c0019t0001 a0011c0042t0002 a0011c0045t0002 a0012c0013t0001 a0015c0015t0001 a0016c0061t0002 a0016c0092t0001 a0018c0016t0002 a0025c0037t0001 a0029c0072t0002 a0035c0032t0001 a0047c0069t0001 a0053c0058t0002 a0055c0081t0001 a0057c0031t0001 a0059c0095t0002	a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0012 others(100): Show a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0015 a0002c0002t0001g0075 a0002c0002t0001g0123 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0167 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0255 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0313 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0287 a0002c0011t0002g0305 a0002c0011t0002g0332 a0002c0011t0002g0337 a0002c0011t0002g0345 a0002c0012t0002g0257 a0002c0033t0002g0283 a0002c0068t0001g0118 a0003c0003t0001g0041 a0003c0003t0001g0050 a0003c0003t0001g0054 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0170 a0003c0003t0001g0184 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0275 a0003c0003t0002g0281 a0003c0003t0002g0317 a0003c0003t0002g0335 a0007c0007t0001g0102 a0007c0007t0001g0103 a0007c0007t0001g0110 a0007c0007t0001g0190 a0007c0007t0001g0192 a0007c0007t0001g0193 a0007c0007t0001g0196 a0007c0007t0001g0204 a0007c0007t0001g0208 a0007c0007t0001g0209 a0007c0007t0001g0212 a0007c0007t0001g0214 a0007c0007t0001g0217 a0007c0007t0001g0219 a0007c0007t0003g0205 a0007c0046t0001g0224 a0009c0009t0001g0069 a0009c0009t0001g0074 a0009c0009t0001g0094 a0009c0009t0001g0096 a0009c0009t0001g0097 a0009c0009t0001g0100 a0009c0009t0001g0109 a0009c0009t0001g0182 a0009c0009t0001g0206 a0009c0009t0001g0220 a0009c0009t0002g0282 a0009c0009t0005g0001 a0011c0019t0001g0213 a0011c0019t0001g0223 a0011c0042t0002g0268 a0011c0045t0002g0315 a0012c0013t0001g0149 a0012c0013t0001g0151 a0015c0015t0001g0030 a0015c0015t0001g0034 a0015c0015t0001g0180 a0016c0061t0002g0294 a0016c0092t0001g0142 a0018c0016t0002g0245 a0025c0037t0001g0195 a0029c0072t0002g0242 a0035c0032t0001g0230 a0047c0069t0001g0020 a0053c0058t0002g0296 a0055c0081t0001g0063 a0057c0031t0001g0179 a0059c0095t0002g0306	104	333	0.3123	-216	c.455 others(19): Show c.4551+2497_4551+2712del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	429323	GGACCCTG others(209): Show GGACCCTGGCTGCCTCACCCCCGGACCCTGGCTGCCTCCCCCCCGGACCC TGGCTGCCTCCCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCT GCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCC CCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCC TGGCTGCCTCCCCCACA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02647.hp2 HG03225.hp2 HG02602.hp1 HG02647.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0015 a0001c0020 a0001c0004 a0001c0015 a0001c0020	a0001c0004t0003 a0001c0015t0002 a0001c0020t0008 a0001c0004t0003 a0001c0015t0002 a0001c0020t0008	a0001c0004t0003g0078 a0001c0015t0002g0082 a0001c0020t0008g0074 a0001c0004t0003g0078 a0001c0015t0002g0082 a0001c0020t0008g0074	3	88	0.0341	-216	c.395 others(17): Show c.395-6506_395-6291del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	993117	AGACCCCC others(209): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0031 a0002c0001t0019g0031	1	32	0.0313	-216	c.73+ others(17): Show c.73+85196_73+85411del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993279	AGACCCCC others(209): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02976.hp1 HG02647.hp2 HG02895.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0002 a0002c0007t0008 a0002c0001t0002 a0002c0007t0008	a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0007t0008g0040 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0007t0008g0040	3	30	0.1000	-216	c.73+ others(17): Show c.73+85359_73+85574del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375453	ACCTCTCC others(209): Show ACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG02698.hp1 HG00639.hp1 HG01361.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0001c0002t0001 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0019 a0002c0001t0001g0018 a0002c0001t0003g0017 a0001c0002t0001g0019 a0002c0001t0001g0018 a0002c0001t0003g0017	3	39	0.0769	-216	c.106 others(21): Show c.106+116679_106+116894del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643389	CCCTCGAC others(209): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCC TCACCTGTGTCACCCTGGAACCCGCCGGTCCTCACCTGTGTCACCCTCGA ACCCGCCGGTCCTCACCTGTGTCACCCTCGAACCCGCCGGTCCTCACCTG TGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCCAACCCGCC GGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	36	0.0278	-216	c.181 others(21): Show c.1810+10346_1810+10561del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI2_chr17_74269234_74319884	74301854	GGAAGGAA others(209): Show GGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0353 a0002c0010t0002g0353	1	396	0.0025	-216	c.987 others(15): Show c.987+694_987+909del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301862	AGAAGGAA others(209): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0017 a0002c0011t0003g0017	1	326	0.0031	-216	c.987 others(15): Show c.987+738_987+953del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP10_chr2_114437641_115850780	115439026	AAGCACAG others(209): Show AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCAC AGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTG GCTAAGATGGTCATGGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	55	0.0182	-216	c.272 others(19): Show c.272-60448_272-60233del	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELSPBP1_chr19_47989632_48030154	47991605	CTCCCCCT others(209): Show CTCCCCCTCTTCCTCCTCTTCCCTCCTCCTCCTCCTTCCCCTCCTCCTCC GTCTGCTCCTCCTCCCCCTCCTCCTCTTCCTTCTCTTTCTCCCCTCCTCC TCTCCTCCTCCTTCTTCCTACTCTCCCTCATTCCCCTCCTTCTCTCCCTC CTCCTCTTCCTTCTTCACCTCCTCCCCCCTTCTCCCCCCTTTCCCTCTTT CTCCCCTCCTCCTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0037 a0004c0004t0001g0037	1	386	0.0026	-216	c.-32 others(11): Show c.-3223_-3008del	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3026		chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103109290	CCCTCCCT others(209): Show CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02027.hp1 others(4): Show HG00438.hp1 HG00621.hp1 HG02027.hp1 HG02129.hp1 NA18939.hp2 NA18944.hp2 NA19007.hp2	a0002 a0011 a0012 others(1): Show a0002 a0011 a0012 a0017	a0002c0001 a0011c0016 a0012c0015 others(1): Show a0002c0001 a0011c0016 a0012c0015 a0017c0072	a0002c0001t0001 a0011c0016t0001 a0011c0016t0005 others(2): Show a0002c0001t0001 a0011c0016t0001 a0011c0016t0005 a0012c0015t0001 a0017c0072t0007	a0002c0001t0001g0214 a0011c0016t0001g0020 a0011c0016t0001g0251 others(4): Show a0002c0001t0001g0214 a0011c0016t0001g0020 a0011c0016t0001g0251 a0011c0016t0001g0252 a0011c0016t0005g0140 a0012c0015t0001g0238 a0017c0072t0007g0219	7	368	0.0190	-216	c.197 others(17): Show c.1977-719_1977-504del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103109363	CCTCCCTC others(209): Show CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCC TCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01106.hp1 HG01168.hp1 others(2): Show HG00558.hp1 HG01106.hp1 HG01168.hp1 HG01496.hp2 HG03490.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0002 a0006c0033 a0002c0001 a0004c0002 a0006c0033	a0002c0001t0001 a0004c0002t0003 a0006c0033t0001 a0002c0001t0001 a0004c0002t0003 a0006c0033t0001	a0002c0001t0001g0216 a0002c0001t0001g0248 a0004c0002t0003g0054 others(2): Show a0002c0001t0001g0216 a0002c0001t0001g0248 a0004c0002t0003g0054 a0004c0002t0003g0091 a0006c0033t0001g0008	5	392	0.0128	-216	c.197 others(17): Show c.1977-666_1977-451del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT4_chr5_180596506_180654600	180634945	CATGGAGG others(209): Show CATGGAGGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGCTGAGAGGA TGGATGCATGGATGGACGGAAGTATGGGTGGATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGGATGGAAGTATGGGTGGGAGGGTGGGTGGATGGA TGGATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATG GATGGAAGGGTGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0339 a0002c0002t0001g0339	1	340	0.0029	-216	c.59- others(15): Show c.59-3383_59-3168del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89360987	TCCAGCAC others(209): Show TCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCACCACCA CCTCCAGCACCACCACCACCACCACCTCCACCACTACCACCTCCAGCACC ACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCACCTCCACCAC CACCACCTCCAGCACCA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0165 a0001c0001t0051g0165	1	202	0.0050	-216	c.544 others(19): Show c.544-10395_544-10180del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GAL3ST2_chr2_241771822_241809287	241805786	TCCCCCCT others(209): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19005.hp1 HG03579.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0017 a0002c0002t0002g0139 a0001c0001t0002g0017 a0002c0002t0002g0139	2	306	0.0065	-216	c.16 others(11): Show c.1621_*1836del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1500		chr2	TogoVar
GALNS_chr16_88808734_88861947	88831205	CGAGGAGA others(209): Show CGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGA GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG02559.hp2 others(8): Show HG00558.hp2 HG02145.hp2 HG02559.hp2 HG02622.hp1 HG03098.hp2 HG03490.hp1 HG03492.hp1 NA18947.hp2 NA18974.hp1 NA18979.hp1 NA19064.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0005c0012t0001	a0001c0002t0001g0055 a0001c0002t0002g0072 a0001c0002t0002g0127 others(8): Show a0001c0002t0001g0055 a0001c0002t0002g0072 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0202 a0001c0002t0008g0123 a0001c0002t0008g0178 a0005c0012t0001g0021 a0005c0012t0001g0022 a0005c0012t0001g0023 a0005c0012t0001g0024	11	376	0.0293	-216	c.100 others(17): Show c.1002+577_1002+792del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831414	TGCGTGGG others(209): Show TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGT GAGGCCGAGCACGGGGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03490.hp2 HG00741.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0347 a0001c0001t0001g0336 a0001c0001t0001g0347	2	395	0.0051	-216	c.100 others(17): Show c.1002+368_1002+583del	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GASK1A_chr3_42974311_43062715	43012491	GGCTGTGT others(209): Show GGCTGTGTGAAGTCACAGGAAGGGAAGTGGAAAGTCACATGAAGGGGCTA TGTGAAGTCACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTGTGAGGCCA CAGGAAGGAGCTGTGTGAAGTCACAGGAAGGGAAGTGGAAAGTCACATGA AGGGGATATGTGAAGTCACAGGGAAGGGCAGTGTGGAGCCACAGGCAGTG TGAGGCCACAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18940.hp2 NA18941.hp1 others(7): Show HG02809.hp1 NA18940.hp2 NA18941.hp1 NA18955.hp2 NA18957.hp2 NA18972.hp1 NA19010.hp2 NA19060.hp1 NA19080.hp2 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0004 a0004c0010 a0002c0006 a0004c0004 a0004c0010	a0002c0006t0002 a0004c0004t0006 a0004c0010t0004 a0002c0006t0002 a0004c0004t0006 a0004c0010t0004	a0002c0006t0002g0277 a0004c0004t0006g0002 a0004c0004t0006g0024 others(4): Show a0002c0006t0002g0277 a0004c0004t0006g0002 a0004c0004t0006g0024 a0004c0004t0006g0274 a0004c0004t0006g0275 a0004c0004t0006g0276 a0004c0010t0004g0304	10	338	0.0296	-216	c.4-1 others(15): Show c.4-19659_4-19444del	GASK1A	ENSG00000144649.10	transcript	ENST00000430121.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
GNG12_chr1_67696475_67838467	67709990	ATATATAT others(209): Show ATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAGTT ATATATATAGTTATATATATATAGTTATATATATAGTTATATATATATAG TTATATATATAGTTATATATATAGTTATATATATAGTTATATATATAGTT ATATATATATAGTTATATATATATAGTTATATATATATAGTTATATATAT AGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	182	0.0055	-216	c.-26 others(17): Show c.-26-2494_-26-2279del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46621551	GGCGTAGC others(209): Show GGCGTAGCCCGGGCCCATCCCTGGCGGTGTGTCGCGGAGGGCACCCCTAC CCCGGTGCAGGCGCAGGCTGGAGGCGTAGCCCGGGCCCATCCCTGGCAGT GTGTCGCGGAGGGCACCCCTACCCCGGTGCAGGCACAGGCTGGAGGCGTA GCCCGGGCCCGTCCCTGGCGCTGTGTCGCGGAGGGCACCCCTACCCCGGT GCAGGCGCAGGCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0047 a0002c0010t0047	a0002c0010t0047g0061 a0002c0010t0047g0061	1	326	0.0031	-216	c.-50 others(16): Show c.-50+988_-50+1203del	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL3RA_chrX_1331785_1387689	1366623	GGTGAGCC others(209): Show GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGA GCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGA GTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGCG CGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGGG TGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0088 a0001c0001t0006g0088	1	112	0.0089	-216	c.874 others(17): Show c.874+1402_874+1617del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367122	CGCGGGGT others(209): Show CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCG GGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCGGGGTGA GCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAG CCGGGTGCGCGGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	104	0.0096	-216	c.874 others(17): Show c.874+1888_874+2103del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367161	GGGGTGAG others(209): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGT GAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCG GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTG CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGAGCGG GGTGCGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	110	0.0091	-216	c.874 others(17): Show c.874+1915_874+2130del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132772100	GGACACTC others(209): Show GGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAG AGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACC CCACGAGGAGTGGGACA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	184	0.0054	-216	c.978 others(17): Show c.978-5543_978-5328del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772301	CACGAGGA others(209): Show CACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCC ACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCACGGC AGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCA CGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAG GCCACAGCAGCCACCCG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18990.hp1 NA18969.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0153 a0001c0001t0001g0155	2	199	0.0101	-216	c.978 others(17): Show c.978-5368_978-5153del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772316	AGACACTC others(209): Show AGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTG GGACGGACACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAGG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCAT GAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACC CGATGAAGAGTGGGACG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0035 a0001c0005t0019g0035	1	189	0.0053	-216	c.978 others(17): Show c.978-5327_978-5112del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772370	GGACACTC others(209): Show GGACACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAGGAGTG GGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATGAAG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACC CCACGAGGAGTGGGACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 HG02004.hp2 others(1): Show HG01081.hp2 HG01192.hp1 HG02004.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0012	a0001c0001t0001g0114 a0001c0001t0002g0042 a0002c0002t0001g0056 others(1): Show a0001c0001t0001g0114 a0001c0001t0002g0042 a0002c0002t0001g0056 a0002c0002t0012g0066	4	191	0.0209	-216	c.978 others(17): Show c.978-5282_978-5067del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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