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
ZNF511_chr10_133303914_133318161	133317300	CCCAGACA others(197): Show CCCAGACACACAGATGGAAAGGCCTCACCCCCCCAGGACACAGAGATGGA AAGACCACACCCCCCCTCCCCCAGGACACAGAGATGGAAAGACCACACCC CCCCAGGACACAGAGATGGAAAGACCACACACCCCCTCCCCCAGGACACA GAGATGGAAAGACCACAACCCCCATCCCCCAGGACACAGAGATGGAAAGA CCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	279	0.0036	-204	c.44 others(11): Show c.4435_*4638del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4140		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393401	CAGGTGGT others(197): Show CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGG	C C	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0283 a0001c0001t0008g0283	1	344	0.0029	-204	c.181 others(21): Show c.1811-13302_1811-13099del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393987	AGGTGGGG others(197): Show AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20129.hp1 HG03041.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0075 a0001c0001t0009 a0001c0004t0075	a0001c0001t0009g0274 a0001c0004t0075g0044 a0001c0001t0009g0274 a0001c0004t0075g0044	2	339	0.0059	-204	c.181 others(21): Show c.1811-13888_1811-13685del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF609_chr15_64455578_64691068	64577328	AATATATA others(197): Show AATATATACATATATATGTATATATATACACATATATGTATATATATACA CATATAAATATATACACATATATGTATATATATACACATATAAATATATA CACATATATGTATATATATACACATATAAATATATACATATATATGTATA TATATACACATATAAATATATACATATATATGTATATATATACACATATA AATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0039 a0001c0009t0001g0039	1	130	0.0077	-204	c.748 others(19): Show c.748-45495_748-45292del	ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABR_chr17_998519_1184981	1118593	GTTCTTCC others(196): Show GTTCTTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCT GAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCC TCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCT GAGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	335	0.0030	-203	c.246 others(17): Show c.246+6387_246+6589del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADAM20_chr14_70517358_70540004	70539108	ACAGAGAG others(196): Show ACAGAGAGCCTATGAATGGACGTGCAGTCAGAGAGGTTTCACATCACCAA TTCCTGTAGGGAGACCCCCTGAAACTACTGCTATGGAATAAAAGATGAAA TGCTCCTGATTATTGTAAATACAAAATTGCATGCAGGATTGTGTAAAGAC AATGCCAGGTTGGTCTGCCAGACGAGCCAACAACGCGTGATGTGCTTCCC CCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	398	0.0025	-203	c.-46 others(11): Show c.-4691_-4489del	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		4105		chr14	TogoVar
ADARB2_chr10_1172313_1742525	1236405	CCTCCCGG others(196): Show CCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCG GGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACT CCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGG AGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCT CTGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	101	0.0099	-203	c.136 others(19): Show c.1362-2763_1362-2561del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANO1_chr11_70073317_70194530	70122110	GTCTGTCT others(196): Show GTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCT CTCCATCTCCCCCACCTCTCTGTCTGTCTTTCTGTCTCTCCATCTGCCTC TGTCTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTATCT CTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCGCC TCTC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19067.hp1 HG00544.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0196 a0001c0002t0002g0200 a0001c0001t0002g0196 a0001c0002t0002g0200	2	300	0.0067	-203	c.898 others(17): Show c.898-2228_898-2026del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP8B4_chr15_49853238_50124233	50086311	TAATATAG others(196): Show TAATATAGAGATCTATATTTATTATATATAATTAATATAGAGATCTATAT TTATTATATATAATAAAATAATATAGAGATCTATATTTATTATATATAAT AAAATAATATAGAGATCTATAATTATATATAATAAAATAATAGAGATCTA TATTATTATATATAATAAAATAATATAGAGATCTATATTTAATTATATAT AATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01074.hp1 others(3): Show HG00099.hp2 HG00733.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	6	242	0.0248	-203	c.29- others(17): Show c.29-12329_29-12127del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
BCAS3_chr17_60672851_61397831	61045892	ATAATATA others(196): Show ATAATATATATAAATATATATTTATATATATAATATATATAAATATATAT ATTATATATATAAATATATATATAATATATATATATTATATATATATTTA TATATATATAATATATATATTTATATATATATTATATATATATTTATATA TATATAATATATATATTATATATATATAATATATATATATTTATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0062 a0001c0008t0002g0062	1	72	0.0139	-203	c.202 others(19): Show c.2029+5001_2029+5203del	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23			chr17	TogoVar
BRF1_chr14_105204286_105306001	105236642	GAGGCCAC others(196): Show GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAGGAGA AAAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCACAACCTAGCATCTCAGGAG AAAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	70	0.0143	-203	c.694 others(17): Show c.694+4420_694+4622del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(196): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp2 HG01517.hp2 others(2): Show HG01261.hp2 HG01515.hp2 HG01517.hp2 HG02145.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0002c0007t0010	a0001c0001t0003g0235 a0001c0001t0004g0174 a0001c0001t0018g0140 others(2): Show a0001c0001t0003g0235 a0001c0001t0004g0174 a0001c0001t0018g0140 a0002c0007t0010g0242 a0002c0007t0010g0243	5	153	0.0327	-203	c.92- others(13): Show c.92-648_92-446del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816595	ATATATAT others(196): Show ATATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATA TATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGT ATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02976.hp1 HG03041.hp1 HG01167.hp1 HG02976.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0041 a0001c0001t0042 a0001c0001t0020 a0001c0001t0041 a0001c0001t0042	a0001c0001t0020g0092 a0001c0001t0041g0007 a0001c0001t0042g0007 a0001c0001t0020g0092 a0001c0001t0041g0007 a0001c0001t0042g0007	3	230	0.0130	-203	c.28 others(11): Show c.2824_*3026del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1011		chr1	TogoVar
BTBD9_chr6_38163451_38644929	38402249	TTAAGGTG others(196): Show TTAAGGTGACGATACTTCTCAAAGCGATCCATAGATTCAATGCAATCCTT TTCAAAATCCCAACACACTTATTTGTAGAAATTGACAACCTGATCCTAAA ATTCATATGGAAAGAACCCAGAATAGCCAAAACAATCCCCCATCCCCAAA AGAGTTAGAAGAATCACATTTCCTGATTTTAAAACTTATGACAGACCACA GTAA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18973.hp1 NA18977.hp1 others(3): Show NA18970.hp1 NA18973.hp1 NA18977.hp1 NA18994.hp2 NA19003.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0052 others(2): Show a0001c0001t0008 a0001c0001t0024 a0001c0001t0052 a0001c0001t0075 a0001c0001t0117	a0001c0001t0008g0131 a0001c0001t0024g0129 a0001c0001t0024g0130 others(3): Show a0001c0001t0008g0131 a0001c0001t0024g0129 a0001c0001t0024g0130 a0001c0001t0052g0151 a0001c0001t0075g0128 a0001c0001t0117g0132	6	222	0.0270	-203	c.115 others(21): Show c.1155-57359_1155-57157del	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
C4orf19_chr4_37448925_37598510	37585360	GGAGGGGA others(196): Show GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGG GGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGA AGGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02486.hp1 HG02683.hp2 others(3): Show HG02056.hp1 HG02486.hp1 HG02683.hp2 HG03927.hp1 HG06807.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0054 a0001c0006t0055 a0001c0001t0003 a0001c0001t0054 a0001c0006t0055	a0001c0001t0003g0021 a0001c0001t0003g0081 a0001c0001t0003g0310 others(3): Show a0001c0001t0003g0021 a0001c0001t0003g0081 a0001c0001t0003g0310 a0001c0001t0003g0320 a0001c0001t0054g0336 a0001c0006t0055g0343	6	349	0.0172	-203	c.-22 others(17): Show c.-22-3432_-22-3230del	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CAMK2B_chr7_44212154_44330594	44227377	ACGGAGTG others(196): Show ACGGAGTGTGGGGGACAGAGGGAGAGTCTGGGGGACAGAGGGGGTGTGGG GGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGGACAGAAGGGGG TATGGGGGGCAGGGGGTGGAGGACAGAGGAGGGTGTGGGGGACAGAGGGG GATATGGGGGACAGAGGGAGTGTAGGGGACAGAGGAGGGTCTGGGGGGCA GAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 NA19043.hp2 HG02559.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0136 a0001c0001t0001g0021 a0001c0001t0001g0078 a0001c0001t0001g0136	3	237	0.0127	-203	c.146 others(17): Show c.1469-936_1469-734del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC183_chr9_136791338_136812741	136802944	GGGGGCCC others(196): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp2 HG03516.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0195 a0005c0005t0001g0068 a0001c0001t0002g0195 a0005c0005t0001g0068	2	380	0.0053	-203	c.666 others(15): Show c.666+293_666+495del	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDH4_chr20_61247261_61945617	61641810	CCCACCAG others(196): Show CCCACCAGGCACCACCAGGCACCACAGCACCCAGGACACCTACAGCTTTG GGATCAGATGGGGCTGCCTGACCCACCAGGCACCACAGCACCCAGGACAC CTACAGCTTTGGGATCAGACGGGGCTGCCTGACCCACCAGGCTCCACAGC ACCCAGGACACCTACAGCTTTGGGATCAGACGGGGCTGCCTGACCCACCA GGCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00639.hp1 others(65): Show HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18952.hp1 NA18960.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(17): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0020 a0001c0021 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0014 a0002c0016 a0002c0026 a0003c0017 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0029 a0001c0003t0034 a0001c0003t0035 a0001c0003t0041 a0001c0006t0006 a0001c0006t0026 a0001c0006t0045 a0001c0007t0009 a0001c0007t0047 a0001c0010t0001 a0001c0010t0008 a0001c0011t0005 a0001c0012t0001 a0001c0013t0006 a0001c0020t0006 a0001c0021t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0036 a0002c0004t0001 a0002c0004t0002 a0002c0004t0012 a0002c0004t0021 a0002c0004t0033 a0002c0005t0007 a0002c0005t0010 a0002c0005t0019 a0002c0008t0024 a0002c0009t0031 a0002c0009t0032 a0002c0014t0001 a0002c0016t0003 a0002c0026t0010 a0003c0017t0002 a0003c0018t0043	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0008g0013 a0001c0001t0015g0083 a0001c0001t0016g0064 a0001c0001t0017g0030 a0001c0001t0018g0091 a0001c0001t0027g0019 a0001c0001t0028g0092 a0001c0001t0037g0055 a0001c0001t0044g0085 a0001c0001t0046g0062 a0001c0003t0001g0037 a0001c0003t0002g0002 a0001c0003t0004g0054 a0001c0003t0029g0040 a0001c0003t0034g0023 a0001c0003t0035g0043 a0001c0003t0041g0086 a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0006t0045g0070 a0001c0007t0009g0017 a0001c0007t0009g0044 a0001c0007t0047g0065 a0001c0010t0001g0027 a0001c0010t0008g0045 a0001c0011t0005g0101 a0001c0012t0001g0008 a0001c0013t0006g0035 a0001c0020t0006g0093 a0001c0021t0005g0047 a0002c0002t0003g0069 a0002c0002t0003g0076 a0002c0002t0004g0022 a0002c0002t0011g0082 a0002c0002t0012g0020 a0002c0002t0014g0072 a0002c0002t0036g0057 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0094 a0002c0004t0002g0001 a0002c0004t0002g0079 a0002c0004t0012g0016 a0002c0004t0021g0050 a0002c0004t0033g0095 a0002c0005t0007g0097 a0002c0005t0007g0099 a0002c0005t0010g0068 a0002c0005t0019g0056 a0002c0008t0024g0024 a0002c0009t0031g0009 a0002c0009t0032g0026 a0002c0014t0001g0090 a0002c0016t0003g0042 a0002c0026t0010g0078 a0003c0017t0002g0053 a0003c0018t0043g0052	68	106	0.6415	-203	c.170 others(21): Show c.170-101738_170-101536del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39498873	CTCTTTCT others(196): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	253	0.0040	-203	c.242 others(19): Show c.2420-2375_2420-2173del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CLPTM1L_chr5_1312752_1350099	1327253	CACATTCC others(196): Show CACATTCCATCCAGCTCCTCCTCTACAGGGACATTTCATCCAGCTCCTCC TCTACAGACACATTCCATCCAGCTCCTCCTCTACAGACACATTCCATCCA GCTCCTCCTCTACAGGCACATTCCATCCAGCTCCTCCTCTACAGGCACAT TCCATCCAGCTCCTCCTCTACAGACATATTTCATCCAGCTCCTCCTCTAC AGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01175.hp2 others(3): Show HG00280.hp2 HG00741.hp2 HG01175.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174	6	368	0.0163	-203	c.108 others(19): Show c.1081-1640_1081-1438del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CSMD1_chr8_2930361_4999914	3795890	TACAGATA others(196): Show TACAGATATATATATCATGTACAGATATAGATATCTATCATGTACAGATA TAGATATCTATCATGTACAGATATAGATATCTATCATGTACAGATATAGA TATATATCTATCATGTATATAGATATATATCATGTATAGATATAGATATA TATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATC TATC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0056 a0004c0058t0056	a0004c0058t0056g0117 a0004c0058t0056g0117	1	123	0.0081	-203	c.819 others(19): Show c.819-42051_819-41849del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DBNDD1_chr16_89999871_90024456	90008154	GTCCCAAG others(196): Show GTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGATGTCCCAAGG GGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCC CACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACAC ACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAG GACT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03540.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	2	221	0.0090	-203	c.319 others(15): Show c.319+427_319+629del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008276	GTCCCAAG others(196): Show GTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGG GCCTCAGCCCACCACGCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCC CACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACCCA CACCTCCCAGGATGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAG GACT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(23): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG03491.hp2 HG03492.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp1 NA18993.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0060 others(11): Show a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0293	26	410	0.0634	-203	c.319 others(15): Show c.319+305_319+507del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DOCK3_chr3_50669927_51389198	51016174	GATATATA others(196): Show GATATATATCATATATTTCTACATATATATCATATATTTCTACATATATA TATCATATATTTCTACATATATATATCAATCATATATTTCTACATATATA TCATATATTTCTACATATATATCATATATTTCTACATATATATATCATAT ATTTCTACATATATATATCATATATTTCTACATATATATATCATATATTT CTAC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	78	0.0256	-203	c.316 others(19): Show c.316-48265_316-48063del	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPP10_chr2_114437641_115850780	114834845	GTCTACAC others(196): Show GTCTACACACCTATGTATATAAAAGACATATCTACACAACTATGTATATA TAAGCCATATCTACACACCTATGTATATATAAGCCATATCTACACACCTA TGTATATATAAGCCATATCTACACACCTATGTATATAAAAGACATATCTA CACACCTATGTATATAAAAGACATATCTACACACCTATGTACATATCAGC CATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0002	1	56	0.0179	-203	c.60+ others(19): Show c.60+392028_60+392230del	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807528	CTCCCTCC others(196): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0072 a0005c0005t0001g0072	1	291	0.0034	-203	c.33 others(11): Show c.3363_*3565del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3242		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807595	TGCAGGCC others(196): Show TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0210 a0003c0003t0001g0210	1	193	0.0052	-203	c.34 others(11): Show c.3430_*3632del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3309		chr2	TogoVar
GMEB2_chr20_63582605_63632101	63608216	CTGACCTC others(196): Show CTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACCTCCA TTTCTAGAAACATGCCCCTGTGACCTCACCTCCATTTCTAGAAACATGCC CCTCTGACCCCACATCCATTTCTAGAAACATGCCCCTCTGACCCCACATC CATTTCTAGAAACATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATG CCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(87): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18955.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA18984.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(80): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0009g0205 a0001c0001t0009g0221 a0001c0001t0015g0222 a0001c0001t0016g0240 a0001c0008t0001g0028 a0001c0011t0001g0246 a0001c0012t0001g0108	90	313	0.2875	-203	c.132 others(17): Show c.132-3579_132-3377del	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPSM1_chr9_136322539_136364601	136352110	AATGCTGC others(196): Show AATGCTGCGCCGTTGCTGTTGGTGACACCAATGCTGCGCCGTTGCTGTTG GTGACACCAATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGT TGCTGTTGGTGACACCGATGCTGCGCCGTTGCTGTTGGTGACACCGATGC TGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGTTGCTGTTGGTGAC ACCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19065.hp2 HG01243.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0023 a0001c0001t0001 a0001c0006t0023	a0001c0001t0001g0229 a0001c0006t0023g0072 a0001c0001t0001g0229 a0001c0006t0023g0072	2	348	0.0057	-203	c.145 others(19): Show c.1455+2373_1455+2575del	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
HELZ2_chr20_63553086_63579239	63559516	GAGTCAGT others(196): Show GAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCA GGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATG GGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTC AGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGG AGTC	G G	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0033 a0002c0108t0033	a0002c0108t0033g0272 a0002c0108t0033g0272	1	388	0.0026	-203	c.782 others(17): Show c.7825+209_7826-147del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
IGF2BP2_chr3_185638130_185830042	185794260	CTGGCCCA others(196): Show CTGGCCCAGAGCAGATCCTAGAGACCCGGGCTGCCCTCATATCACAGGTG TGTCTGGCTCCTTATCCTCACACAGGCAGTTGTTCCTAAATATTTCTTTG CTAAGGACTTAATCATAGACTCACAGAATTCTAGAACAGACAGGAAGGTT GAGTATCAACTAACTTACATCCTCGCATTACTGATGAGAAAACTAACAGC CCAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00609.hp2 others(74): Show HG00140.hp2 HG00280.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18946.hp1 NA18961.hp1 NA18971.hp2 NA18995.hp2 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0002c0003t0001 a0003c0004t0003	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 others(74): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0073 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0211 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0040 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0064 a0001c0001t0003g0072 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0129 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0004g0130 a0001c0001t0005g0050 a0001c0001t0005g0068 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0006g0124 a0001c0001t0008g0071 a0001c0001t0009g0020 a0001c0001t0009g0023 a0001c0001t0010g0070 a0001c0001t0011g0021 a0001c0001t0013g0027 a0001c0001t0013g0054 a0001c0001t0016g0049 a0001c0001t0021g0022 a0001c0001t0026g0069 a0001c0001t0029g0207 a0001c0001t0031g0033 a0002c0003t0001g0059 a0003c0004t0003g0215	77	214	0.3598	-203	c.239 others(19): Show c.239+28690_239+28892del	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789381	ACAGAACC others(196): Show ACAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01361.hp2 others(31): Show HG00741.hp2 HG01099.hp2 HG01361.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02080.hp2 HG02145.hp1 HG02258.hp1 HG02602.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG04228.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19009.hp1 NA19068.hp2 NA19081.hp1 NA20752.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0004 a0008c0024 a0001c0001 a0003c0004 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0003c0004t0004 a0008c0024t0004	a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0214 others(31): Show a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0247 a0001c0001t0002g0016 a0001c0001t0002g0139 a0001c0001t0004g0015 a0001c0001t0010g0039 a0003c0004t0004g0018 a0003c0004t0004g0019 a0003c0004t0004g0023 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0027 a0003c0004t0004g0028 a0003c0004t0004g0030 a0003c0004t0004g0033 a0003c0004t0004g0034 a0003c0004t0004g0035 a0003c0004t0004g0036 a0003c0004t0004g0038 a0003c0004t0004g0040 a0003c0004t0004g0048 a0003c0004t0004g0049 a0003c0004t0004g0050 a0003c0004t0004g0054 a0003c0004t0004g0060 a0003c0004t0004g0062 a0003c0004t0004g0258 a0008c0024t0004g0021	34	155	0.2194	-203	c.169 others(19): Show c.1693+6804_1693+7006del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789874	TCAGAACC others(196): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTAA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18993.hp2 NA18963.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0334 a0001c0001t0002g0147 a0001c0001t0002g0334	2	337	0.0059	-203	c.169 others(19): Show c.1693+6311_1693+6513del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124790048	TCAGAACC others(196): Show TCAGAACCGCCTCTGACTAGACAGGGTTAACAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTAA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02615.hp2 others(4): Show HG02257.hp2 HG02451.hp1 HG02615.hp2 HG03041.hp1 HG03225.hp2 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0013 a0001c0008t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0008t0002 a0001c0008t0006	a0001c0001t0001g0261 a0001c0001t0013g0009 a0001c0008t0002g0308 others(4): Show a0001c0001t0001g0261 a0001c0001t0013g0009 a0001c0008t0002g0308 a0001c0008t0002g0309 a0001c0008t0002g0310 a0001c0008t0006g0078 a0001c0008t0006g0307	7	350	0.0200	-203	c.169 others(19): Show c.1693+6137_1693+6339del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KIAA1958_chr9_112481827_112674397	112550065	AATGTTTG others(196): Show AATGTTTGAATGGGAAGGAATTAGGCTTGAGAGGTAAGCCTGGCAATGTT CAGAGTTAGAGGCCTCAGAGCCGTGTTGATAATTTGGGATGTCTTCTCTT TGGCTGTTTGGAGCCTTTGATGGAGAGTTTGAGGTAAATCTGTTGATAAG TAACTAGTAACCATTCTGAGTGTATCTGCAGACACTAATGGTAAAGCACT ATGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0070 a0001c0001t0015 a0001c0001t0070	a0001c0001t0015g0070 a0001c0001t0070g0021 a0001c0001t0015g0070 a0001c0001t0070g0021	2	306	0.0065	-203	c.-24 others(19): Show c.-24-23991_-24-23789del	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
LCN15_chr9_136754634_136769518	136768733	TCTCCTGA others(196): Show TCTCCTGACCTTGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATT ACAGGCATGAGCCACCGTGCCTGGCCTTGTTTTGTTTTTTAAGACGGGGT CTCACTCTGTCACTCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTG CAATCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCATG TAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	-203	c.-44 others(11): Show c.-4448_-4246del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4216		chr9	TogoVar
LIPG_chr18_49557057_49604185	49579008	GGGAGAGG others(196): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 NA20129.hp2 HG02970.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0110 a0001c0001t0117 a0001c0001t0041 a0001c0001t0110 a0001c0001t0117	a0001c0001t0041g0158 a0001c0001t0110g0161 a0001c0001t0117g0157 a0001c0001t0041g0158 a0001c0001t0110g0161 a0001c0001t0117g0157	3	378	0.0079	-203	c.794 others(17): Show c.794-2404_794-2202del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	886639	CCCCCGGC others(196): Show CCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCA GGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTA GGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCC CAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCC TAGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp1 HG02572.hp1 NA18906.hp1	a0004 a0004	a0004c0019 a0004c0034 a0004c0019 a0004c0034	a0004c0019t0001 a0004c0034t0015 a0004c0019t0001 a0004c0034t0015	a0004c0019t0001g0082 a0004c0034t0015g0273 a0004c0019t0001g0082 a0004c0034t0015g0273	2	292	0.0068	-203	c.729 others(17): Show c.729+6165_729+6367del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LRRTM4_chr2_76742685_77527376	77307790	ATATATTA others(196): Show ATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGAAAT ATAAATATATAGATATATCTATATATTATAGAAATATAAATATATAGATA TATCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATA GAAATATAAATATATAGATATATCTATATATTATAGAAATATAAATATAT AGAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	128	0.0078	-203	c.155 others(23): Show c.1551+210325_1551+210527del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MAP2K2_chr19_4085321_4129122	4125890	GGTTGCAG others(196): Show GGTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCTTGGGAGACAAG AGCGAGACTTCGTCTCAAAAAAATCAAACAAACAAACAAACAAACAAATA AATAAATAAAATACAAAAATTAGCCAGGCCTGGCGGTGTGTGCCTATAGT CTCAGCTACTCAGGCGGCTGAGGCAGGAGAATCGCTTGAACCCGGGGGGC AGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02615.hp1 others(10): Show HG01891.hp2 HG02258.hp1 HG02615.hp1 HG02723.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0001c0004t0006	a0001c0001t0001g0105 a0001c0001t0001g0189 a0001c0001t0003g0277 others(9): Show a0001c0001t0001g0105 a0001c0001t0001g0189 a0001c0001t0003g0277 a0001c0001t0005g0289 a0001c0004t0001g0010 a0001c0004t0001g0191 a0001c0004t0001g0193 a0001c0004t0001g0197 a0001c0004t0001g0264 a0001c0004t0006g0066 a0001c0004t0006g0194 a0001c0004t0006g0195	13	328	0.0396	-203	c.-22 others(11): Show c.-2218_-2016del	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding		1769		chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19452183	GAGAAGAG others(196): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAAA GAAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG01071.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0059 a0001c0001t0001g0060	2	160	0.0125	-203	c.995 others(17): Show c.995+4527_995+4729del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MROH2A_chr2_233773330_233838418	233790471	TCCTTCCT others(196): Show TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGC CTTACTTACTCTTTCCCCTCCCTCCCCCTTTCTTTTTCTCCTTCCTTCCT TCCTTCCTCCCTCCCCTCCCCTTTCCCTCACCTCCCCTCCCTCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTC CCTC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0112 a0112	a0112c0184 a0112c0184	a0112c0184t0001 a0112c0184t0001	a0112c0184t0001g0076 a0112c0184t0001g0076	1	362	0.0028	-203	c.571 others(15): Show c.571+469_571+671del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYT1_chr20_64159452_64247253	64175874	TCTCCTGT others(196): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01928.hp1 NA18995.hp2 others(4): Show HG00733.hp2 HG01928.hp1 NA18995.hp2 NA19004.hp2 NA19058.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0004t0004g0070	7	136	0.0515	-203	c.-99 others(19): Show c.-99+11138_-99+11340del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667578	TCCCTTAC others(196): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCC CTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18612.hp2 NA18941.hp2 HG02083.hp2 NA18612.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0002g0024 a0001c0001t0004g0023 a0001c0001t0004g0025	3	323	0.0093	-203	c.148 others(19): Show c.1480-3031_1480-2829del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241807528	CTCCCTCC others(196): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	296	0.0034	-203	c.-17 others(11): Show c.-1749_-1547del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1664		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807595	TGCAGGCC others(196): Show TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	197	0.0051	-203	c.-16 others(11): Show c.-1682_-1480del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1597		chr2	TogoVar
NSMCE2_chr8_125086860_125372120	125293465	ACTGACTC others(196): Show ACTGACTCCAGTGGGTTAATTTTGAAATTTATTTGAACTTCGTTCAATAA ATGATCACTGAGCATCCACTCTGTGGAAAGCTCCATGCTAATTATTGTAG GGAACACAAACAGGAGGAAGGTTTAGTCATCAAGCATACTGATGAGTAGA GGTAACAGGATTACCCTAAACATTATGAGGTTGCTGAGACTTTTGAAGAC CATC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01891.hp1 others(19): Show HG01074.hp2 HG01109.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02080.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp2 NA18906.hp2 NA18943.hp1 NA18971.hp2 NA18988.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0052 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0002g0106 a0001c0001t0003g0135	22	242	0.0909	-203	c.419 others(19): Show c.419-63750_419-63548del	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
OR2B11_chr1_247444182_247463104	247458430	GTGTGTGT others(196): Show GTGTGTGTGTGTTGAACTCTTTAGGGCTGGTGCATGGTGTGTGTGTGTGT TGAACTCTTTAGGGCTGGTGCGTGGCGTGTGTGTGTGTGTGTTGAACTCT TTAGGGCTGGTGCGTGGTGTGTGTGTGTGTGTTGAACTCTTTAGGGCTGG TGTGTGTATGTGTGTGTGTGTTGAACTCTTTAGGGCTGGTGCATGGTGTG TGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp1 others(30): Show HG00099.hp1 HG00323.hp2 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01346.hp1 HG01361.hp1 HG02132.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03710.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18983.hp2 NA18999.hp2 NA19000.hp1 NA19011.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19075.hp1 NA19079.hp2 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0004c0005 a0008c0014 a0009c0016	a0001c0002t0027 a0001c0002t0028 a0001c0003t0028 others(14): Show a0001c0002t0027 a0001c0002t0028 a0001c0003t0028 a0001c0003t0060 a0002c0001t0005 a0003c0004t0005 a0003c0004t0020 a0003c0004t0021 a0003c0004t0057 a0003c0004t0059 a0003c0004t0064 a0003c0004t0065 a0004c0005t0061 a0004c0005t0062 a0004c0005t0066 a0008c0014t0063 a0009c0016t0058	a0001c0002t0027g0035 a0001c0002t0028g0074 a0001c0003t0028g0075 others(16): Show a0001c0002t0027g0035 a0001c0002t0028g0074 a0001c0003t0028g0075 a0001c0003t0060g0072 a0002c0001t0005g0037 a0003c0004t0005g0006 a0003c0004t0005g0083 a0003c0004t0020g0022 a0003c0004t0021g0036 a0003c0004t0021g0081 a0003c0004t0057g0070 a0003c0004t0059g0071 a0003c0004t0064g0077 a0003c0004t0065g0079 a0004c0005t0061g0073 a0004c0005t0062g0076 a0004c0005t0066g0080 a0008c0014t0063g0078 a0009c0016t0058g0082	33	476	0.0693	-203	c.-40 others(11): Show c.-4077_-3875del	OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding		327		chr1	TogoVar
OTUD7A_chr15_31470398_31875673	31511392	TATATATG others(196): Show TATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACACATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03486.hp2 HG01978.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0015 a0001c0015t0091 a0001c0001t0015 a0001c0015t0091	a0001c0001t0015g0174 a0001c0015t0091g0021 a0001c0001t0015g0174 a0001c0015t0091g0021	2	202	0.0099	-203	c.894 others(17): Show c.894-7777_894-7575del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511508	CATATATG others(196): Show CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACACATATATGTATATCTATATGTAACACACACATAT ATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACAC ACAT	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	176	0.0057	-203	c.894 others(17): Show c.894-7892_894-7690del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar

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