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
CHMP1B_chr18_11846413_11859444	11855828	CGGGCATG others(812): Show CGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATTGCTTAAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCG CGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAA AAAAAAAGTGCTGAAAATAAGCACCAGTCTGATAAGAGAACCTTATTAAC TGAGCATAGTATCAGCATCAGCTGGCCAAGCACACTATAAAGCAGAAGGG AGGGACTTCCTCTGCAAAAACACAACATCCTCTTGGCAATTCTGTAGCCA AAGTCCAAAGCTCAAGATCTTTATAGCAAAAAGCTGCAAGCCAGTGGACA CTAAGGAAACTGATGAGCAGACCCCTGTTTTTGTTTTTGTGTTGAATCAA CTGACTGGAATTAGCAAAATGCTGTCTGGTTTACCTAGGTTTGTTTTTCT ACATTAGATTGCAAATTCCATAGGGAGCCCGGGCCAGGCAATGTCTGTCA TAGTGTCAGTCTCTGGGCCTGGTGTGGTGCCTCCCACAGTGGGCTCCTTG CACTGCATAGCAAACGTGTGCCTGGCCTGGGTGGTCACTCCTGATAGTGC CTCGAGCTTTCTGATGACAGCAGACAGGCAGGTAAAGCAGGCACCCTAAG CGCACAGAGTCCCAAGTATGGACACTCAAGAGCTGTGTCCTCTTCCTTCA CAGCATTTGTCCACAATGAAATGTTTGCCTCTGTTCTTCAGGGTTTGTAC ATCCTCTCCCTGCTGAGAAATGCCAGGACAAACAATTCAGCAGTGTTTAC TCAAAATGACAATACAGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp2 others(10): Show HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02922.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0000 a0001c0001t0028g0000 a0001c0001t0004g0000 a0001c0001t0028g0000	13	435	0.0299	-819	c.37 others(11): Show c.3718_*4536del	CHMP1B	ENSG00000255112.3	transcript	ENST00000526991.3	protein_coding		1385		chr18	TogoVar
CROCC2_chr2_240901336_240998311	240923766	GCCCCCAC others(812): Show GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACT AACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCA CACTAACCCGGTCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCC ACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCC CAACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTATCCCGGC CCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 NA19240.hp2 HG02486.hp2 HG02717.hp1 NA19240.hp2	a0011 a0023 a0011 a0023	a0011c0043 a0023c0054 a0023c0055 a0011c0043 a0023c0054 a0023c0055	a0011c0043t0001 a0023c0054t0001 a0023c0055t0001 a0011c0043t0001 a0023c0054t0001 a0023c0055t0001	a0011c0043t0001g0017 a0023c0054t0001g0022 a0023c0055t0001g0018 a0011c0043t0001g0017 a0023c0054t0001g0022 a0023c0055t0001g0018	3	213	0.0141	-819	c.488 others(17): Show c.488+1144_489-1117del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
GNAL_chr18_11684264_11890685	11855828	CGGGCATG others(812): Show CGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATTGCTTAAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCG CGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAA AAAAAAAGTGCTGAAAATAAGCACCAGTCTGATAAGAGAACCTTATTAAC TGAGCATAGTATCAGCATCAGCTGGCCAAGCACACTATAAAGCAGAAGGG AGGGACTTCCTCTGCAAAAACACAACATCCTCTTGGCAATTCTGTAGCCA AAGTCCAAAGCTCAAGATCTTTATAGCAAAAAGCTGCAAGCCAGTGGACA CTAAGGAAACTGATGAGCAGACCCCTGTTTTTGTTTTTGTGTTGAATCAA CTGACTGGAATTAGCAAAATGCTGTCTGGTTTACCTAGGTTTGTTTTTCT ACATTAGATTGCAAATTCCATAGGGAGCCCGGGCCAGGCAATGTCTGTCA TAGTGTCAGTCTCTGGGCCTGGTGTGGTGCCTCCCACAGTGGGCTCCTTG CACTGCATAGCAAACGTGTGCCTGGCCTGGGTGGTCACTCCTGATAGTGC CTCGAGCTTTCTGATGACAGCAGACAGGCAGGTAAAGCAGGCACCCTAAG CGCACAGAGTCCCAAGTATGGACACTCAAGAGCTGTGTCCTCTTCCTTCA CAGCATTTGTCCACAATGAAATGTTTGCCTCTGTTCTTCAGGGTTTGTAC ATCCTCTCCCTGCTGAGAAATGCCAGGACAAACAATTCAGCAGTGTTTAC TCAAAATGACAATACAGGTG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG02145.hp2 others(9): Show HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02630.hp1 HG02922.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0031 a0001c0001t0060 others(8): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0060 a0001c0001t0154 a0001c0001t0166 a0001c0001t0171 a0001c0001t0176 a0001c0001t0184 a0001c0001t0185 a0003c0004t0034 a0003c0004t0035	a0001c0001t0003g0008 a0001c0001t0003g0240 a0001c0001t0031g0036 others(9): Show a0001c0001t0003g0008 a0001c0001t0003g0240 a0001c0001t0031g0036 a0001c0001t0060g0247 a0001c0001t0154g0007 a0001c0001t0166g0033 a0001c0001t0171g0017 a0001c0001t0176g0042 a0001c0001t0184g0018 a0001c0001t0185g0016 a0003c0004t0034g0002 a0003c0004t0035g0003	12	246	0.0488	-819	c.723 others(17): Show c.723-6562_723-5744del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11855828	CGGGCATG others(812): Show CGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATTGCTTAAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCG CGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAA AAAAAAAGTGCTGAAAATAAGCACCAGTCTGATAAGAGAACCTTATTAAC TGAGCATAGTATCAGCATCAGCTGGCCAAGCACACTATAAAGCAGAAGGG AGGGACTTCCTCTGCAAAAACACAACATCCTCTTGGCAATTCTGTAGCCA AAGTCCAAAGCTCAAGATCTTTATAGCAAAAAGCTGCAAGCCAGTGGACA CTAAGGAAACTGATGAGCAGACCCCTGTTTTTGTTTTTGTGTTGAATCAA CTGACTGGAATTAGCAAAATGCTGTCTGGTTTACCTAGGTTTGTTTTTCT ACATTAGATTGCAAATTCCATAGGGAGCCCGGGCCAGGCAATGTCTGTCA TAGTGTCAGTCTCTGGGCCTGGTGTGGTGCCTCCCACAGTGGGCTCCTTG CACTGCATAGCAAACGTGTGCCTGGCCTGGGTGGTCACTCCTGATAGTGC CTCGAGCTTTCTGATGACAGCAGACAGGCAGGTAAAGCAGGCACCCTAAG CGCACAGAGTCCCAAGTATGGACACTCAAGAGCTGTGTCCTCTTCCTTCA CAGCATTTGTCCACAATGAAATGTTTGCCTCTGTTCTTCAGGGTTTGTAC ATCCTCTCCCTGCTGAGAAATGCCAGGACAAACAATTCAGCAGTGTTTAC TCAAAATGACAATACAGGTG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp2 HG02145.hp1 others(9): Show HG01952.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp2 HG02922.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 others(8): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 a0001c0001t0147 a0001c0001t0148 a0001c0001t0152 a0001c0001t0164 a0001c0001t0166 a0001c0003t0088 a0001c0003t0169 a0001c0003t0170	a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 others(9): Show a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 a0001c0001t0041g0067 a0001c0001t0147g0074 a0001c0001t0148g0197 a0001c0001t0152g0258 a0001c0001t0164g0066 a0001c0001t0166g0071 a0001c0003t0088g0065 a0001c0003t0169g0063 a0001c0003t0170g0064	12	282	0.0426	-819	c.492 others(17): Show c.492-6562_492-5744del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6272635	GGAGTTGT others(812): Show GGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGTT CTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCA GGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATATA AGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTCT ACAGAGTGGTGCCTTCAGGAGCATGGGGAAAGGGGGAGTTGTGCAGATTC AACTAGGACTGAATATAAGGAATACAGAAGAGTTCTGACAGCCCCACTGC ATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGG GAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAGT TCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTTC AGGAGCACGGGGAAAGGGAGAGTTGTGCAAATTCAACTAGGACTGAATAT AAGGAATACAGAACAGTTCTGACAGCCCCACTGCATTAAACTGGTGGTTC TACAGAGCGGTGCCTTCAGGAGCACGGGGAAAGGGAGAGTTGTGCAAATT CAACTAGGACTGAATATAAGGAATACAGAACAGTTCTGACAGCCCCACTG CATTAAACTGGTGGTTCTACAGAGCGGTGCCTTCAGGAGCACGGGGAAAG GGAGAGTTGTGCAAATTCAACTAGGACTGAATATAAGGAATACAGAACAG TTCTGACAGCCCCACTGCATTAAACTGGTGGTTCTACAGAGCGGTGCCTT CAGGAGCACGGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	30	0.0333	-819	c.128 others(17): Show c.128-9416_128-8598del	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	4/18			chr18	TogoVar
PUM1_chr1_30926506_31070717	31041533	TCTGGGTC others(812): Show TCTGGGTCATGGGGGCCCATCCCTCAGGAAGTACTTGATATCCTCCCCAT GGTAATGAGTGAGTTCTCACTCTATTAATTCACACAAGAGCTGGCTGTTT AAAAGTGCCTGGAACCTCTTCTCTCTCCAGCTCCCTCTCTTGACCATGTG ACACATGTGCTCCCACTGTGCCTTCTGCCATGAGTAAAAGTGTCCTGAGG CCTCACCAGCAGCAGATGCTGTAACTTACTTCCTGTACAGTCTGCAAAAC TGAGACAAATAAACCTCTTTTTGTTATAAATTGCCCAGTCTCCTATATTC CTTTATAGCAACACAAAATGGACTAACATACTTTTTTTAAAAAAAAATGA GAAAGATAAAAATGTGCATACAGTACTGAGTGGCTCAAATCATGTAAAAA TATTAGAACACTTCCAGGACAAAGCATATGATTACTCGTTATTAATTCTA GATACAGAAAGGAAATAATACTAAAATAAAATCATCTCTAGGCCAGGCCC AGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGCCGAGGCAGGTGGA TCATCTAAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTTGGAACC CTGTCTCTACTAAAACTATAAAAATTAGCCAAGCATGGTGGTGCATCCCT GTAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAATCCAG GAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAACCTGG GCAACAGAGCGAGACTCTGTATCAAAAATAAATAAATAAATAAATAAATA AATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	332	0.0030	-819	c.364 others(19): Show c.364-13488_364-12670del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
TBC1D2_chr9_98194011_98260649	98238007	GATTCTCC others(812): Show GATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGAATGTGCTA CCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTTACCATG TTAGCTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTTG GCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCCCTGCGCTCAGCCTAG CAATATTAAGTCTTTTGATTCATGAACATGAGATATCTTTCCAGCTACTT AAGCCCTTTTTTTCAACAATGTTTGGTGTTTTCAGAGCACACATTTTGCA TCATTATGTCAAATTCATTCCTAAATATTTAATTCTTTTTCTAATATTGT TATGGAATGTTTTCTTAATTTTATTTTTGGGTTGTTTATTACAGGTGTAT AGAAATACAACTGATATTTCTATATTGATCTTGAATCCTGCAACCTTGCT GAACTAATTTCTTAGCTCTAATAGTTTTTCCTTAGGATTTTCTGTAAACA AATATCATGTCAACTGCAAATAAAGATAGTTTTACTTTTTTCCTTCCCAA TCTGGATGCCTAATTTCATGTTCTTGCCTAATTGGCCTGGCTAAAGCCTC CAGAACAATGTTGAATATTCCTGATTTTAAGGGGAAAATATTCAGTCTTT TACCATTAAGTATGTTAGCTTTGCATTTTTCATTGATTCCCTTTATCAAG CTGGGGAAGTTTCGTTCTACTTGTTTTTTTTGTTTTTTGTTTTTTGTTTT CTGAGACGGAGCTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGTACAACCT CCGCCTCCTGGGTTCAAGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(60): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02109.hp2 HG02129.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19068.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0003 a0005 a0006 others(2): Show a0003 a0005 a0006 a0016 a0020	a0003c0004 a0003c0009 a0003c0011 others(10): Show a0003c0004 a0003c0009 a0003c0011 a0003c0012 a0003c0026 a0003c0036 a0005c0010 a0005c0015 a0006c0016 a0006c0035 a0006c0038 a0016c0025 a0020c0037	a0003c0004t0001 a0003c0004t0003 a0003c0009t0001 others(11): Show a0003c0004t0001 a0003c0004t0003 a0003c0009t0001 a0003c0011t0001 a0003c0012t0001 a0003c0026t0001 a0003c0036t0001 a0005c0010t0001 a0005c0015t0001 a0006c0016t0001 a0006c0035t0001 a0006c0038t0001 a0016c0025t0001 a0020c0037t0001	a0003c0004t0001g0011 a0003c0004t0001g0024 a0003c0004t0001g0025 others(56): Show a0003c0004t0001g0011 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0048 a0003c0004t0001g0270 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0278 a0003c0004t0001g0280 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0288 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0294 a0003c0004t0001g0295 a0003c0004t0001g0296 a0003c0004t0001g0297 a0003c0004t0001g0298 a0003c0004t0001g0299 a0003c0004t0001g0300 a0003c0004t0001g0301 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0004t0001g0304 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0003g0049 a0003c0009t0001g0035 a0003c0009t0001g0036 a0003c0009t0001g0039 a0003c0009t0001g0043 a0003c0011t0001g0045 a0003c0011t0001g0047 a0003c0012t0001g0271 a0003c0012t0001g0277 a0003c0012t0001g0279 a0003c0026t0001g0044 a0003c0036t0001g0274 a0005c0010t0001g0037 a0005c0010t0001g0038 a0005c0010t0001g0040 a0005c0010t0001g0041 a0005c0015t0001g0033 a0005c0015t0001g0034 a0006c0016t0001g0051 a0006c0016t0001g0052 a0006c0035t0001g0282 a0006c0038t0001g0281 a0016c0025t0001g0042 a0020c0037t0001g0046	63	364	0.1731	-819	c.647 others(17): Show c.647+5168_648-4459del	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding	3/12			chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100071626	TCCATCAT others(811): Show TCCATCATGAAAACAGAACCAAAGACAAAAACCACATGATTATCTCAATA GATGCAGAAAAGGCCTTTGACAAAATTCAACAACTCTTCATGCTAAAAAC TCTCAATAAATTAGGTATTGATAGGTATCTCAAAATAATAAGAGCTATTT ATGACAAACCCATAGCCAATATCATACCGAATGGGCAAAAACTGGAAGCA TTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCGCCACTCCT ATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAGTCAGGCAGGAGAAGG AAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTT GCAGATGACATGACTGTATATCTAGAAAACCCCACCATCTCAGCCCAAAA TCTCCTTGAGCTGATAGGCAACTTCCGCAAAGTCTGAGGATACAAAATCA ATGTGCAAAAATCACAGTCTTTCTTATACACCAGTAACAGATAAACAGAG AGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAA ATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGA ACTACAAACCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAG AACATTCCATGCTCATGGGTAGGAAGAATCAATATCATGAAAATGGCCAT ACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAA TGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCCTATGGAAC CAAAAAAGAGCCCGCATTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG01258.hp2 others(19): Show HG00099.hp1 HG01257.hp2 HG01258.hp2 HG01496.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18964.hp2 NA18983.hp1 NA18993.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011	a0001c0002 a0001c0007 a0001c0014 others(11): Show a0001c0002 a0001c0007 a0001c0014 a0001c0038 a0002c0001 a0002c0011 a0002c0022 a0003c0006 a0003c0009 a0004c0003 a0004c0028 a0005c0020 a0006c0016 a0011c0062	a0001c0002t0002 a0001c0007t0002 a0001c0007t0018 others(17): Show a0001c0002t0002 a0001c0007t0002 a0001c0007t0018 a0001c0014t0034 a0001c0038t0008 a0002c0001t0004 a0002c0001t0013 a0002c0001t0038 a0002c0001t0055 a0002c0001t0061 a0002c0011t0023 a0002c0022t0035 a0003c0006t0047 a0003c0009t0049 a0004c0003t0001 a0004c0028t0001 a0005c0020t0004 a0005c0020t0017 a0006c0016t0058 a0011c0062t0068	a0001c0002t0002g0169 a0001c0007t0002g0057 a0001c0007t0018g0046 others(19): Show a0001c0002t0002g0169 a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0014t0034g0017 a0001c0038t0008g0192 a0002c0001t0004g0191 a0002c0001t0013g0019 a0002c0001t0038g0051 a0002c0001t0055g0074 a0002c0001t0061g0141 a0002c0011t0023g0207 a0002c0022t0035g0040 a0003c0006t0047g0134 a0003c0009t0049g0086 a0004c0003t0001g0101 a0004c0003t0001g0136 a0004c0028t0001g0155 a0005c0020t0004g0220 a0005c0020t0004g0221 a0005c0020t0017g0198 a0006c0016t0058g0096 a0011c0062t0068g0055	22	226	0.0973	-818	c.213 others(21): Show c.2138-18390_2138-17573del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
FOXQ1_chr6_1307098_1319758	1318940	GCACGCCT others(811): Show GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTG GCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCAC CTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTC ACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTT CAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACA AAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACC AACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGC GGTGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG03209.hp1 HG02818.hp2 HG03209.hp1	a0004 a0013 a0004 a0013	a0004c0006 a0013c0025 a0004c0006 a0013c0025	a0004c0006t0001 a0013c0025t0014 a0004c0006t0001 a0013c0025t0014	a0004c0006t0001g0000 a0013c0025t0014g0000 a0004c0006t0001g0000 a0013c0025t0014g0000	2	404	0.0050	-818	c.50 others(11): Show c.5025_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4183		chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806835	TTCCCTCC others(811): Show TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	142	0.0070	-818	c.26 others(11): Show c.2670_*3487del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2549		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806835	TTCCCTCC others(811): Show TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0113 a0001c0004t0001g0113	1	141	0.0071	-818	c.-24 others(11): Show c.-2442_-1625del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2357		chr2	TogoVar
OSBPL2_chr20_62233521_62301183	62294456	TAATGTAA others(811): Show TAATGTAAAGATTACTTTTAAAATATTTAAGTTAAAACTACTTGAATAGT ATTTTGCTGAAGAGCAAGATATGCATTAATCACCGGTTTTATACTGTCCA AAATGAAGCATCCCCGTGACAAACCAGAGTGGGCAGAAGCATCGAGAGCG TGACAGGAAATCCCAAGACTGCTTCCGCCTCAGAGGCGTCCCGGCTGCGA TTCGCTGCCCTGTTGTCAGTGAGGCCTGGCTGTCACCGCACACCGCGTCC GTGTCTCCAGGGGGTTCCTTTCTTCTCACACGTCGCGTGTACCCATAGCA CTCTTGTGTTTCTGTTTTTCCCAGTATGCATGTTTAAAATAGAAGTGACA AGAATCACATCCGGTTGTGTCCTGTGGGAGGGTCAGAGGCAGAATCTACT TACAGTGGTGTAATTAAAGTTATTTAACCAAAAATAGGTATGTGTCCATC TCAGCATTCACCTTTATCAAGTGACTGATTTTTTTTTCTTTTCTTTCCTT TTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGT GCAATGGCATGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCGCCA CCACACCTGGCTGATTTTGTATTTTTAGTAGACACGGGTTTTCACCATGT TGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAGTCTGCCTGCCTCAA CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCGTGA CTGATTTTTTTTCATGTAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0146 a0001c0001t0011g0146	1	346	0.0029	-818	c.57 others(10): Show c.573_*1390del	OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	14/14	573	INFO_REALIGN_3_PRIME	chr20	TogoVar
BCL2L13_chr22_17633757_17735855	17645914	AATACAAA others(810): Show AATACAAATGATACCAATACAGTATAACAGCTATTTAATGGCATTTACAT TGTCTTAGGTATTATAAGTAATCTAGAAATGACTTAAAAGTATATGAGAG GGAGGAAGTGAGTAGGTTATATACAAATACCACACCATTTTGTATAAGGA ACTTGAGCATCTGAGGATTTTGGTATCCACAGGTATCCTGGAACCAATCC CACATGGGTACCAAGGGACAATTCTACTTGAAACTTAATAGAGGAACAAA GTAAAAAGATTAAGGCACAGAAAGAAACAGGTGGGTTACATATTATGTTT AATAGTTTGAATCGTACAAATTATAGCAGGTTTTTTGTTTGTTTGTTTGA GACAGAGTTTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATC TCAGCTCACTGCAACCTCCACCTCCTGGGTTCAGGCGATTCACCTGTCTC AGCCTCCTGAGTAGCTGGGATTACAGGTGTGCATGCCACCACGCCAGGCT AATTTTTGTATTTTTAGTAGTGACGGTGTTTCATCATATTGGTCAAGCTG GTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCGCACCCTCCCAAAGT GCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCAAGATAGCAATTTTT ATAGTTAAGATCATCTATGTATTTACTCACTTCTGGATACCAAGAACACT TGTACTAACTTGAATTTTAAGAGGTCCTATTAGATAAAATTCAATGAGTA AAGGTAACTATATGTCCCTCTCATCATTTGAAAAGAATCTTGAAATATCT GTCTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02280.hp1 others(2): Show HG01884.hp1 HG02055.hp2 HG02280.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0042 a0001c0002t0012 a0001c0002t0042	a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0300 others(2): Show a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0042g0010	5	304	0.0164	-817	c.-51 others(17): Show c.-51+7029_-51+7845del	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	1/6			chr22	TogoVar
C8A_chr1_56849797_56923223	56919146	TCCTTGAA others(810): Show TCCTTGAAGGCCAAATCTACAATCCTAGTGTATAGTAGGTACTCAAGAAA TGTCTGGTGACTAACATATATATTGATGCTTCAAGTCATTCCAGAGTCCT CAATCTTGTTAAAGTCAGAATAAGAATTATGTACCTGAAACAACTAGAGG AGGTTTTAGGGAAATTAATTGTTGAGTTAATGCTAAAATATGTAGCACAC AAAGTAAGTGCTGAAGGAGGCCAGGTGGGAGAGAGATTTACCTTTCCATT ACTGTGTATATTGTGGATGGCATGGGGATTGCCCCAGGCCCTGAAGGACT TTTCAACTAGGCAAACTGGGAGGAGATCTCTCAGACAGAAATTCGGCATG AGACAAAGTCTGAAAGTGAGAAAGACATTTGGGGGTGCATGCAGGTGCGT ATGTGTCAGGAAAGGGGAGTGAGGAAAATAATGCATGTAAATAAAATAAG GCATATAAAACACTTGGCACTATGCCTGTCATACAGGACATTATTACCCT CATGCTTATCGTCATCATTATTAAGACTATTATTAATTAAAGAATGTGAT TTAGAAGTTAATTTCTGAACTCTTTAGATCTTCTACCTGAAAGAAGAAAA AAAACTCTCCTATTGCTTTTCATCCTGTCATTAATTTGCTTTTTACTTTT TAACTTACATTAATAATTAACCTACATTCATTATTTACTGAGTAGTGGCA GTTACATGCTAGAAAGTGACCAAGGGCCAAATATGCCAGGCCACGTGGGC ACTTTAAAGAGAACGTTTGATCTTGACCTAAAAAAACAGTGGTTCTTAAA CTTGGTTGTATGTTACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03669.hp2 HG04228.hp1 HG02735.hp2 HG03669.hp2 HG04228.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0049 a0008c0007t0004g0051 a0008c0007t0004g0053 a0008c0007t0004g0049 a0008c0007t0004g0051 a0008c0007t0004g0053	3	364	0.0082	-817	c.14 others(11): Show c.1431_*2247del	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding		924		chr1	TogoVar
CCDC77_chr12_396644_447642	419504	CTGTGTGT others(810): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp1 HG03139.hp2 others(14): Show HG00597.hp1 HG02080.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18949.hp2 NA18961.hp1 NA18982.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19072.hp1 NA19078.hp1 NA19084.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0151 a0001c0001t0001g0241 a0001c0001t0001g0365 others(14): Show a0001c0001t0001g0151 a0001c0001t0001g0241 a0001c0001t0001g0365 a0001c0001t0002g0083 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0007g0015 a0001c0001t0007g0016 a0003c0003t0002g0380 a0004c0004t0001g0315	17	234	0.0726	-817	c.413 others(16): Show c.413+877_413+1693del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
ECRG4_chr2_106060688_106083155	106078621	ATTTGGGT others(810): Show ATTTGGGTGAGGGAGAGGGAGGATAAGAAGACGGGGGAGGTGAGTGAAGA ATCTGAGCCTTTGCTGATAGGAGGGGGTCTGGTCCCAGACTACGCAGAAC TGCAGGGGGTGAGGTGGGGGAGGAGATTAACAGCATGAGGGGGGCAACTC AGAATGGGTCTCAGACTTTTGTATGTCACAGACTCCTCCGACAGTCTGAA AGCTTTTTGCTCTTTTCCTCAGAAAAATTACATGCAATTTTGCAGATAGC CTCTGAAACACACCCCCATTCACAAACCCTATGTAATCAATAACCCTAGG CCCAGTAGGAAGCACTGGATTCAGAGCAGCGGTGTTACGGACAATCATAA ACAAAGGTCATTCTTTTCTTCTTGGGGATTCATATAAATTAAAATTGTAG TGAAATATACATGAAAGTTACCCTTTTAAGCATTTTCGGGTGTACAATTC GGTGGCTAAGTATATTCACATTGTTGTGCAACCGTCACTACCATCCGTCC ATCTCTGGAACTTTTTCATCTTCCCAAACTGATACTGTATCCTTTAAACA CTAACTCCCCATTTCTATCCCCAACCCCTGGCAACCCCCATTCTACTTTC AGTCTCTACGAATGTCCACTCTAGGGACTTCATATAAGTAGTGTAATACA GTATTTGTCTTTTTGTGTCTGGCTTATTTCACTTAGCTTAATGACCTCAA GGTTCATCCATGTTGCAGCATGTGTCAGAATTTCATTCCTTTTTAAGGCA GAATAATATTCCATTGTATGGATAGGCCACTTTTGCTTATCCATTCACCC ATTCATGGATACTCGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(181): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19043.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0004c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(134): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0003g0129 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0211 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0003t0001g0051 a0001c0003t0001g0214 a0001c0005t0001g0135 a0001c0005t0001g0174 a0001c0010t0001g0005 a0004c0009t0001g0185	184	432	0.4259	-817	c.69 others(10): Show c.696_*1512del	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding		467		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805524	CTCCCCCC others(810): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCC CCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG AACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0161 a0001c0004t0001g0161	1	316	0.0032	-817	c.-37 others(11): Show c.-3753_-2937del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3668		chr2	TogoVar
SNTG2_chr2_945849_1372613	1093913	TTGCAGGC others(810): Show TTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGC AAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCA TATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCTTGCAGGCGAAGGC CTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAAGGGCTGCCTTC CTGGCTTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTA CTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGT CCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCAGGCA AAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCGG CTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGA GTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTGTAGGT GTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCA GGCAAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGG CTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGG TAGAGTTACTGGCAAGGGCCGGCTTCCTGGACTGCAGGCGAAGGCCTTAT AGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGGAC TGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCA AGGGCTGGCTTCCTGGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(104): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19084.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017 a0018 a0019 a0021	a0001c0001 a0001c0002 a0002c0003 others(25): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0007c0016 a0007c0017 a0008c0011 a0008c0031 a0009c0012 a0010c0013 a0011c0020 a0012c0019 a0013c0018 a0014c0032 a0017c0036 a0018c0035 a0019c0030 a0021c0027	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0008t0002 a0003c0026t0001 a0004c0004t0001 a0004c0014t0001 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0007c0016t0001 a0007c0017t0001 a0008c0011t0001 a0008c0031t0001 a0009c0012t0001 a0010c0013t0001 a0011c0020t0001 a0012c0019t0001 a0013c0018t0001 a0014c0032t0001 a0017c0036t0001 a0018c0035t0001 a0019c0030t0001 a0021c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 others(104): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0128 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0145 a0001c0002t0001g0172 a0002c0003t0001g0015 a0002c0003t0001g0023 a0002c0003t0001g0029 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0122 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0167 a0002c0003t0001g0171 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0005t0001g0013 a0002c0005t0001g0022 a0002c0005t0001g0100 a0002c0005t0001g0107 a0003c0007t0001g0060 a0003c0007t0001g0068 a0003c0007t0001g0116 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0008t0001g0044 a0003c0008t0001g0059 a0003c0008t0001g0102 a0003c0008t0001g0105 a0003c0008t0002g0072 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0065 a0004c0004t0001g0087 a0004c0004t0001g0112 a0004c0004t0001g0124 a0004c0004t0001g0142 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0014t0001g0036 a0005c0006t0001g0079 a0005c0015t0001g0037 a0005c0015t0001g0103 a0005c0015t0001g0153 a0006c0009t0001g0028 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0129 a0006c0009t0001g0162 a0006c0010t0001g0010 a0006c0028t0001g0127 a0007c0016t0001g0005 a0007c0016t0001g0032 a0007c0017t0001g0106 a0007c0017t0001g0125 a0008c0011t0001g0004 a0008c0031t0001g0117 a0009c0012t0001g0066 a0009c0012t0001g0163 a0010c0013t0001g0140 a0011c0020t0001g0110 a0011c0020t0001g0115 a0012c0019t0001g0138 a0012c0019t0001g0157 a0013c0018t0001g0045 a0013c0018t0001g0046 a0014c0032t0001g0062 a0017c0036t0001g0070 a0018c0035t0001g0071 a0019c0030t0001g0160 a0021c0027t0001g0136	107	185	0.5784	-817	c.211 others(17): Show c.211-4227_211-3411del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF3_chr19_1604292_1657615	1628124	ATGAGGCG others(810): Show ATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CAGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18952.hp2 HG00438.hp1 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0033 a0001c0003t0002 a0001c0003t0033	a0001c0003t0002g0242 a0001c0003t0033g0234 a0001c0003t0002g0242 a0001c0003t0033g0234	2	128	0.0156	-817	c.299 others(16): Show c.299-1515_299-699del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
ZNF516_chr18_76352682_76500242	76393416	GGGGAAGG others(810): Show GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01517.hp2 HG01952.hp1 others(4): Show HG00741.hp1 HG01517.hp2 HG01952.hp1 HG02155.hp2 HG03942.hp1 HG06807.hp2 NA19056.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0015 a0001c0001 a0001c0002 a0007c0015	a0001c0001t0001 a0001c0001t0016 a0001c0001t0079 others(4): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0079 a0001c0002t0001 a0001c0002t0008 a0001c0002t0051 a0007c0015t0005	a0001c0001t0001g0168 a0001c0001t0016g0331 a0001c0001t0079g0160 others(4): Show a0001c0001t0001g0168 a0001c0001t0016g0331 a0001c0001t0079g0160 a0001c0002t0001g0169 a0001c0002t0008g0336 a0001c0002t0051g0002 a0007c0015t0005g0262	7	340	0.0206	-817	c.181 others(21): Show c.1811-13930_1811-13114del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393863	GGGCAGGT others(810): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0328 a0001c0001t0015g0328	1	325	0.0031	-817	c.181 others(21): Show c.1811-14377_1811-13561del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144624668	GGTTCACG others(809): Show GGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCGGCGGCC CGGTTCACGGAGCACTCACTGCACACTGCGGCAGCCCCTGTCCCCGCGGC CCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGCGG CCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCGGCG GCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGGC GGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCCGG CGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCATCCCCTGTCCCG GCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCCC GGCGGCCCGGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTCC CGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGTC CCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTGT CCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCTG TCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCCT GTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCCC TGTCCCGGCGGCCCCGTTCACGGAGCACCCACTGCACACTGCGGCAGCCC CTGTCCCGGCGGCCCGGTTCACGGAGCACTCACTGCACACTGCGGCATCC CCTGTCCCCGCGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(68): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18962.hp1 NA18980.hp1 NA18984.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19087.hp1 NA19091.hp2 NA20752.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0009 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0003t0001 a0001c0003t0009 a0001c0005t0001 a0001c0005t0010 a0003c0009t0001 a0004c0013t0002	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(68): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0155 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0242 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0165 a0001c0001t0013g0175 a0001c0001t0015g0184 a0001c0001t0020g0075 a0001c0002t0001g0006 a0001c0002t0001g0156 a0001c0003t0001g0004 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0009g0003 a0001c0005t0001g0005 a0001c0005t0001g0008 a0001c0005t0001g0009 a0001c0005t0010g0001 a0003c0009t0001g0007 a0004c0013t0002g0194	71	242	0.2934	-816	c.-81 others(19): Show c.-81-19789_-81-18974del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
BRF1_chr14_105204286_105306001	105232207	GCAGCCCT others(809): Show GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCT CAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCG GGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCAT CTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGG CGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCGGGGGACAGCCTGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	65	0.0154	-816	c.695 others(17): Show c.695-4110_695-3295del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
DOC2B_chr17_137789_186650	167405	CATGGTCT others(809): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTGATGGTCTGA CACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGT TCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTC TTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTT GAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGA GGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGG TAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTA GTGAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGT GAATACGTCTCACGAGATCTCATGGTCTGACACTCTTCTTGAGGTAGTGA ATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAGGTAGTGAAT ACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG01361.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0162 a0001c0001t0001g0131 a0001c0001t0001g0162	2	337	0.0059	-816	c.454 others(17): Show c.454-4017_454-3202del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(809): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	273	0.0037	-816	c.23 others(11): Show c.2348_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50344053	CCCCCCCC others(809): Show CCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCC CCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCC CAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGT CAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGC CCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCC CAGTCAGTGCCCCCCAGTCAGTGCCCCCCAGTCAGTGCCCCCTCCAGTCA ATTCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGC CCCCTTCAGTCAGTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCC CAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCA GTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAATTC CCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTC CAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCA GTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCTAGTCAGTGCCC CCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCC AGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTC AGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGT GCCCCCTCTAGTCAGTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19086.hp1 HG02071.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0004 a0001c0001t0007 a0001c0003t0004	a0001c0001t0007g0088 a0001c0003t0004g0091 a0001c0001t0007g0088 a0001c0003t0004g0091	2	332	0.0060	-816	c.-14 others(18): Show c.-148+781_-148+1596del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC12A7_chr5_1045384_1117063	1070473	GCCCCAGT others(809): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACAC TTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTA TGCAGCCCCCAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0004 a0007c0021t0004	a0007c0021t0004g0084 a0007c0021t0004g0084	1	55	0.0182	-816	c.224 others(19): Show c.2241+2344_2241+3159del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMYD3_chr1_245744347_246512279	245974581	CAGGGAAA others(809): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02165.hp2 others(2): Show HG00597.hp2 HG02056.hp1 HG02165.hp2 HG03209.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0058 a0001c0001t0002g0042 a0001c0001t0002g0043 others(2): Show a0001c0001t0001g0058 a0001c0001t0002g0042 a0001c0001t0002g0043 a0002c0003t0001g0118 a0002c0003t0002g0104	5	143	0.0350	-816	c.532 others(19): Show c.532-45460_532-44645del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976209	GGCCCAGG others(809): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCT CCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	116	0.0086	-816	c.532 others(19): Show c.532-47088_532-46273del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
VAV2_chr9_133756894_133997324	133827600	GCTACTGC others(809): Show GCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGC TGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTG CCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGG GGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCT GACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGTGGGGGCATCACCAC	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0139 a0002c0001t0001g0139	1	169	0.0059	-816	c.449 others(17): Show c.449+5856_449+6671del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827636	GGGGCATC others(809): Show GGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATC ACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGC CAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACC TACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTA CCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACT GCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTG TGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGG GGCTGACCACTGACCAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0106 a0002c0001t0020g0106	1	158	0.0063	-816	c.449 others(17): Show c.449+5820_449+6635del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827648	CCTACCGC others(809): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGC TACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTA CCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACC GCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGC TGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTG TGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACT GGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGA GGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGG CTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGA CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACC ACTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCAC TGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG ACCACGGGCATCGCCAG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0148 a0002c0001t0001g0148	1	162	0.0062	-816	c.449 others(17): Show c.449+5808_449+6623del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZNF516_chr18_76352682_76500242	76393437	GGGAAGCC others(809): Show GGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGA AGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCA GGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0176 a0001c0001t0107g0176	1	342	0.0029	-816	c.181 others(21): Show c.1811-13950_1811-13135del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
BRF1_chr14_105204286_105306001	105236294	CGTGGCAC others(808): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAGGAGAAA AAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCAGCCCTGTGGCACCCTCAGGAGCACAACCTAGCATCTCAGGAGAA AAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCGACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02273.hp1 HG00323.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0011 a0001c0001t0001g0043	2	61	0.0328	-815	c.694 others(17): Show c.694+4156_694+4970del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132232859	CAGAGGAG others(808): Show CAGAGGAGACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGC GTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0108 a0001c0007t0010g0108	1	182	0.0055	-815	c.107 others(21): Show c.1077+14236_1077+15050del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
MTA3_chr2_42563632_42761946	42700838	TGCCTGTA others(808): Show TGCCTGTAATCCCAGCAACTTGGGAAGCTGAGGCAGGAAGACTGCTTGAA GCCACGAGTTTGAGATCAGTCTGCACAAAATGGACCTCGCCTCTACAAAA AAATTTAAAAATTATCCAGACATGGAGGCAAATGCCTGTAGGCCCAGTTA CTTGGGAGGCTGAGGTAGGAGGATTGCTTGAACCTGGGGGTTTGATGCTG CAGTGAGTTGTGATCATGCCACCGCACTCTAGTCTGGGCAACAGAGTGAG ACCCTGTCTCTAAAAAAATTAAGTAGATAGATAATAAATAATACATTTTT ATAATTATCTATTTTATAACCAGGCATGGTGGCGTGTGACTGTAGTCCCA GCTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCTGAGAGGTTGAG GCTGCAATGGGCCATGGTCATGCCACTGCACTCCAGCCTGGGTGACCCTG CCTCAAAAAAAAAAAAAAAAAAAAATTAAAGGCCAGGCATGGTGGCTCAC ACCTGTTGAGAAGTTGAGGTGGAATGATCCCTTGAGCCCAGGAACTCAAG ACCAGCCTGGGTAACATAGAGTCCCTGTATCTATCAAAAAAAAAAAAAAA AAGTAAATAAAGAGCCAGGCATGGTGGCACACACCTGCAGTCCCAGCTAC TTGAGAGGCTGAGGTGGGAGTATCACCTGAGCCCAGGAGGTCAAGACTGC AGTGAGTGGTGATCACACCACTACACACCAGCCTGGGTGACAGAGTGAGA CCCTCTCTCAAAAAAAAGAAAAATGTCTTTTAAAAACCAATTTGTTGGCT GGGCACAGTGACTTAC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	310	0.0032	-815	c.102 others(19): Show c.1025+3021_1026-2525del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKN_chr6_161342417_162732766	162304064	TCATTACC others(808): Show TCATTACCTCTGTGAAGGGAGAAAAAAAAAGAAATAGAAGTAATCCAAGT GATTATAATTCATTTGGAATAGGCCTTTTCCTCACCTCTGAATTGCAGGG GTTGTTGGTATTTAAGTGATTGAAGGTCGTCTCTTATGTTGCCGCAATCC CCTATTATTTTGGCAGGACTCATGACTCGTCTAAATAGTCAGTTTTCATC TTTTATTTATGCTGTTTTTTTCTCCTATGTACACACTATAGAAATGGAAA CTTCACTGTAGTAAACTTTTCCCTCTTTGTTAATGACCACTGCTGGCCTA AAAATGTTACCTTTATTTTAACACTGCTGCCTATGGCTATTAGAAAAAGT TGTTTCACACATAAACATACTTCTTGGAACCAAAAACTTTCCATATAACT AAAATGTAATGCTTGACTCATCCAGTTCTATCTATCTATCTATCTATCTA TCTATCTATCTATCTATCTATCTATCTATCTATTTATCCATCTGTCCATT TATCTATCTATCCATCTACCTGTCTATCTATCTATACTTCCCCCACACTT ATATATGATCCTCTTTTAACGACTTGGGGAACTTTTCAACATTTTGTTAC TCCACTGGCTTTTCACACAAATGGGGAAAAGACAGACTTAAGGGTACCAG ATAAACAAAAATTACTAAATAGCTAAGAGCAACTGTCTCAAGGGTCCTGG GGACCTGGAGGCCCTGCTGCCAATGCTGGGACCCAGCACCTCCACTCCAG CTGCTGCTGCCAGATGTGAGTGCCAGGGTAGTCAGATGTGTTGTTTAACT CAAGTGAAAATGGAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03209.hp2 HG02602.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0007 a0001c0003t0001 a0002c0002t0007	a0001c0003t0001g0032 a0002c0002t0007g0008 a0001c0003t0001g0032 a0002c0002t0007g0008	2	32	0.0625	-815	c.172 others(19): Show c.172-42114_172-41300del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PTPRD_chr9_8309246_10618002	8640847	CAAGATAA others(808): Show CAAGATAATATAGTAAAATCCTTTCACTAAGCATGGGTGGTGCATATATA ATCATTTTTGCTGGTCAAACTCTCAGATGGTGTCTGTCAATGCTAGGCAG CCAGCCAAAGGAAAGATATGAGGTAGAGAGAAGACTAAACTTAATAACCC CAACAAATGCTTGAGGCAAGTAAAAATCTTTATTCTCAGAGGGATATAAC AACACACATCACCCACTTCCCTTCTCCATATCTCAGTTTAATAAAAGGAA CATGATGAATCGTCTGCCTTATTTTGTCATAGATATTGTCCAAATTTAAG CCATGCTCTGAAGATGGGAAGAAAGGGAAGAGAATTCAAGTAAAGCATAA AACAAGGGTATCTACTAAAAAGTCACAACATAGGACAGACTAAGATTTGA ATCGTGAAAATCTCCGTTTTTATCCCATGAGATACAACCATCAGTATTAT AGTTAGTGTACAAAAAAAAGAAATATCAAGGTATAAAGATGGGGAGAAAG GCATTAGAACTTTCCAGTCACCATTATTTAGAGAGGCATCCTTCCATTAC TGCTGTAGCTAATCACCATTGCCATCTACCTGAAGCTGCCAATGCTGTAC TTTGCAAAATGCATTTGTGCTCAAGTTGGTTTTGACAAGTGAGGAGTATG ATCTTTTATTAAACTAATGCCAGGTACTGCACAGGTCAAATTACTGGTCA ACCCAGAAAGTCTATTTTCTAAATGGAAAGTAGAGAAGCTACGCATGCAT ATGCGTCACAACAGAGACATGGCCGATATTCTAGAATGTGTCTGCCAGGC TCGCTTGCCATTTTCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02055.hp1 others(5): Show HG00642.hp2 HG01243.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG03225.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0017 a0001c0018 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0003t0023 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0023 a0001c0004t0018 a0001c0010t0017 a0001c0017t0002 a0001c0018t0004 a0002c0015t0010	a0001c0001t0001g0004 a0001c0001t0002g0018 a0001c0003t0023g0031 others(5): Show a0001c0001t0001g0004 a0001c0001t0002g0018 a0001c0003t0023g0031 a0001c0004t0018g0015 a0001c0010t0017g0016 a0001c0017t0002g0005 a0001c0018t0004g0020 a0002c0015t0010g0026	8	34	0.2353	-815	c.65- others(15): Show c.65-4818_65-4004del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
TBXA2R_chr19_3589507_3611875	3601992	CGGGCGGA others(808): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTG AAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGG GAGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCGTGA ACCTGGGAGGAGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCA GCCTGGGTGACAGAGCGAGACTCCGTCTAAAAAACAAAACAAAACAAAAC CAGCTCCCCATACCCCATGGGTCATGTCAAAGTCCAGAGGGTTGTGGCTG GTTGTAAAGTCACCCAGGAGGCTAGGATGGAACCCGGGTCTCCTGCCTCT TGCCCTGACACACCCCCAAGTCACCTGGAGGGACTGGGTGGGCAAAGGTG GGCGAATGGGACTGTGTGCGAGATGGAGGTGCCAGGCAGTTAAGGCTCAA AAGGTCCTATTACGGTCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAAGCCAAGGAGGGCGGATCACCTGAAGTCAGGAGTTTGAGACCA GCCGGACCAACATGGTGAAACCGCATCTCAACTAATAAAAATACAAAAAT TAGCCGGGTGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCGCTTGAACCCGACAGGGGAAGTGATGTTTGTGGGCCG GAAACAGGGCCCCAGAGCCAAGATCGTGCCACTGAACCAACCTGAGCAAC AAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAA AGAGGGAGGCCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	425	0.0024	-815	c.-83 others(17): Show c.-83-2090_-83-1276del	TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding	1/2			chr19	TogoVar
TBXA2R_chr19_3589507_3611875	3602097	TGTAGTCC others(808): Show TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCGTGAACCTG GGAGGAGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTGCAGCCTG GGTGACAGAGCGAGACTCCGTCTAAAAAACAAAACAAAACAAAACCAGCT CCCCATACCCCATGGGTCATGTCAAAGTCCAGAGGGTTGTGGCTGGTTGT AAAGTCACCCAGGAGGCTAGGATGGAACCCGGGTCTCCTGCCTCTTGCCC TGACACACCCCCAAGTCACCTGGAGGGACTGGGTGGGCAAAGGTGGGCGA ATGGGACTGTGTGCGAGATGGAGGTGCCAGGCAGTTAAGGCTCAAAAGGT CCTATTACGGTCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAAGCCAAGGAGGGCGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCGG ACCAACATGGTGAAACCGCATCTCAACTAATAAAAATACAAAAATTAGCC GGGTGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTGAACCCGACAGGGGAAGTGATGTTTGTGGGCCGGAAAC AGGGCCCCAGAGCCAAGATCGTGCCACTGAACCAACCTGAGCAACAAGAG CAAAACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAGG GAGGCCCAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGC GTGGTGGCGGGCGCCC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0232 a0001c0003t0004g0232	1	426	0.0023	-815	c.-83 others(17): Show c.-83-2195_-83-1381del	TBXA2R	ENSG00000006638.13	transcript	ENST00000375190.10	protein_coding	1/2			chr19	TogoVar
TPSB2_chr16_1223336_1235184	1232367	CCACGTGG others(808): Show CCACGTGGGGCAGTGTCCCCGAGAGAAGGGTGGGGAGTCGGGTGAGACGA CAGTGGCCGCGCCCAGACTCAGGGCAGCGATGGGAAACTCAGCCCCAGGA GCTTGCTGGGCTGGGGAGACGCACCTGGCGCGTGCAGAGGCCCCGGCAGC CATGACTCACGAGGCGGAGAACTGCACGGAGAGCTCCGGGCATCCGCAGG GGGTTCCCCCCGGCGTCCTCGGCCGAGTGCCGGAGATGCAGAGAGACGTG GGAGCCGCGTCGGAAACGAGAACCACCAGATGAGAGGGGCGGAGTCCGGG AGTGCGCGCGGGGCTGGGGATATCGCGTGTTCCCAGCAGCTGAGTGGAGA AACCTTGTCAGAGGCAGGCACTGGAGAGTCCTCGGAAGGGTATGGAAGGG TACGAGGGGAGAAAGTAATCCCGAAACCAAAGGCTTCTCCGGACCCACCC TCACAAAGCTGAAAAGCAAAGCCCAGACGGATCCAAATGATTGCAAGTGA CTTAACTGCCTGTGAGAACACATCTCAAAACGATGTCAAGGAATAGAACA CAACCCAGCACGCAACAAAACACTCCAGAGAGTACTCACGAGATCCGGGG GCTAGTCAAGAACGAGCGGGTGGCCGGGCGCGGTGGCTCACGCCTGTCAT CCCAGCACTTTGGGAGGCCGAGGTGGCAGATCGTGAGGTCAGGAGAACGA GACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATATAAAA ATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03579.hp2 others(1): Show HG02280.hp1 HG02559.hp2 HG03579.hp2 NA19081.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0005 a0001c0001 a0003c0003 a0005c0005	a0001c0001t0001 a0003c0003t0002 a0005c0005t0005 a0001c0001t0001 a0003c0003t0002 a0005c0005t0005	a0001c0001t0001g0001 a0003c0003t0002g0003 a0005c0005t0005g0022 a0001c0001t0001g0001 a0003c0003t0002g0003 a0005c0005t0005g0022	4	342	0.0117	-815	c.-30 others(11): Show c.-3021_-2207del	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		2184		chr16	TogoVar
USP42_chr7_6099949_6166564	6100063	GGCTGGTC others(808): Show GGCTGGTCTTGAACTCCTGGCCTCAAGCGATCTTCCGGCCTCAGCCTCCT AAAGTGCTGGGATTACAGGTGTGAGTCACCGCACCTGGCCCAATTTCACA GTTCTAATGACTACTTCTCCTATATCCTCAAAAACCAGAGAGATTGAATA AGCCAACACATCCCCTTCTACTCATATCCAGCCCTAACTAGTCCCCCTAG ATGGGCGCCTGATACTGTTGCCCAGCTGTGAGTGTCCCATCCATTGCCTG GAGATTTATTTATTTATTTATTTTATGGTTTTTTAATACGGAGTTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGTATGGCCTCAGCTCATTTCAACC TCCGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCT GGGATTACAGGTGCTTGCAACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCT CAGGTTATCTGCTCATCTCAGCCTCTCAAAGTGCTGGGATTACAGGCGGG AGCCACTGTGCCTGGCACCTGGACATTTTTACACTCTGTTTCTTAGGGAC TATTCTTGGTATCCACTGTCTTTTTTTTTTTTTTTTTGAGACGGGAGTCT CGCTCTGTTGCCCCAGGCTGTAGTGCAGTGGTGCAAGCCCACCTCCCAGG TTCCAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCG CGCGCTACCACACTCAGCTAATTTTTTGTATTTTTAGAAGAGATGGGGTT TCACCATGTTGGTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	392	0.0026	-815	c.-49 others(11): Show c.-4978_-4164del	USP42	ENSG00000106346.12	transcript	ENST00000306177.10	protein_coding		4885		chr7	TogoVar
YBEY_chr21_46281342_46302751	46293100	TCCCGCGG others(808): Show TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACT CTAGATTAAATTCCTC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	397	0.0025	-815	c.339 others(17): Show c.339+1641_340-2245del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YWHAE_chr17_1339275_1405222	1350709	TGGGATTA others(808): Show TGGGATTACAGGCATGAGCCACTGTGCCCAGCATATGTTTTTATTAAAAT AATAATAATAAAAAAAAATGGCCAGGCGCAGTGGCTCACGCCTGTAATCC AAGCATTTTGGGAGGCCGAGGCAGGTGGACCACGAGGTCAGGAGTTAGAG ACCAGCCTGGCCAACATGGTGAAACCCTGCCTCTACTAAACAAACAAAAA ACTAGCTGGGTATGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCCTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCG AGATCGCACCATTGCATTCCAATCTGGGCAACAGGGAGAGACTCCGTCTC ACAAAACAAAACAAAAAATCAGCCAGGCGCGGTGGCTCACACCTGTAATC CCAGCGCTTTGGGAGGCCGAGATGGGCAGATCACAAGGTCAGGAGTTGGA GACCAGCCTGGCCAACATAGTGGAACCCCGTCTCTATTAAAAATACAAAA AATTAGCTAGGAGTGGTGGTGGCAGACACCTGTAGTCCCAGCTACTAGGG AGGATAAGGCAGGAGAATCAGAGGCAGGAGAATCACTTGAACCCAGGAGA TGTAGGTTGCAGTCAGCTGAGAGAGCACCACTGCACTCCAGCCTGGGTAA CAAGAGCAAAACTCCATCTCAAAAAAAAAAAATAAAACACACACACAGAA AAAACTTTCAAGTCAGGTCACTTTCATTACTTATTACTTTTACTCTCAAA AACATGTCCCCAGAGGTGAGAGGTGTATCATTTCCTGAAGTCAATCCCGC GCCCCAAACTCTCCGC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp1 NA19085.hp2 HG02129.hp1 HG02132.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0315 a0001c0001t0001g0281 a0001c0001t0001g0289 a0001c0001t0001g0315	3	372	0.0081	-815	c.715 others(17): Show c.715+2687_715+3501del	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding	5/5			chr17	TogoVar
ANO7_chr2_241183677_241230976	241205485	CACAGGTG others(807): Show CACAGGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGGAGTGCTCC AAGGCTGACACAGGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGACAGG AGTGCTCCCAGGCTGACACAGGTGGACAGGAGTGCTCCCAGCCTGACACA GGTGGGCAGGAGTGCTCCCAGCCTGACACAGGTGGACAGGAGTGCTCCAA GGCTGACACAGGTGGACAGGAGTGTTCCCAGTCTGACAAGTGGACAGGAG TGCTCCCAGGCTGACAGGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGA CAGGAGTGCTCCCAGTCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACA GGTGGGCAGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGTGCTACCA GGCTGACACAGGTGGACAGGAGTGCTCCCAGGCTGACATAGGTGGACAGG AGTGCTCCCAGCCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACACAGG TGGACAGGAGTGCTCCCAGCCTGACACAGGTGGGCAGGAGTGCTCCCAGC CTGACACAGGTGGACAGGAGTGCTCCAAGGCTGACAGGTGGACAGGAGTG CTCCCAGGTTGACACAAGTGGACAGGAGTGCTCCCAGTCTGACAGGTGGA CAGGAGTGCTCCCAGGCTGACAGCTGGGCAGGAATGCTCCCAGCCTGACA CAGGTGGGCAGGAGTGCTCCCAGGCTGACACAGGTGGACAGGAGTGCTCC CAGGCTGACAGGTGGACAGGAGTGCTCCCAGGCTGACACAGGTAGACAGG AGTGCTCCCAGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01928.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18943.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA19003.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19077.hp2 NA19082.hp2 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0005 a0006 others(9): Show a0001 a0005 a0006 a0007 a0008 a0009 a0013 a0015 a0022 a0025 a0027 a0028	a0001c0001 a0001c0008 a0001c0014 others(20): Show a0001c0001 a0001c0008 a0001c0014 a0001c0021 a0001c0052 a0001c0070 a0005c0025 a0006c0006 a0006c0018 a0007c0012 a0007c0028 a0007c0065 a0007c0071 a0007c0076 a0008c0007 a0008c0066 a0009c0016 a0013c0047 a0015c0030 a0022c0067 a0025c0045 a0027c0075 a0028c0073	a0001c0001t0001 a0001c0001t0025 a0001c0008t0004 others(28): Show a0001c0001t0001 a0001c0001t0025 a0001c0008t0004 a0001c0008t0020 a0001c0014t0001 a0001c0014t0006 a0001c0014t0008 a0001c0021t0004 a0001c0052t0001 a0001c0070t0008 a0005c0025t0001 a0005c0025t0003 a0006c0006t0001 a0006c0006t0009 a0006c0018t0001 a0007c0012t0001 a0007c0012t0012 a0007c0028t0001 a0007c0065t0001 a0007c0071t0001 a0007c0076t0001 a0008c0007t0003 a0008c0007t0018 a0008c0066t0001 a0009c0016t0008 a0013c0047t0001 a0015c0030t0005 a0022c0067t0001 a0025c0045t0021 a0027c0075t0002 a0028c0073t0001	a0001c0001t0001g0007 a0001c0001t0001g0127 a0001c0001t0001g0151 others(72): Show a0001c0001t0001g0007 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0349 a0001c0001t0025g0341 a0001c0008t0004g0034 a0001c0008t0004g0165 a0001c0008t0004g0168 a0001c0008t0004g0170 a0001c0008t0004g0171 a0001c0008t0004g0175 a0001c0008t0004g0177 a0001c0008t0004g0179 a0001c0008t0020g0164 a0001c0014t0001g0023 a0001c0014t0001g0191 a0001c0014t0001g0202 a0001c0014t0006g0197 a0001c0014t0008g0021 a0001c0021t0004g0040 a0001c0052t0001g0181 a0001c0070t0008g0350 a0005c0025t0001g0024 a0005c0025t0003g0207 a0006c0006t0001g0006 a0006c0006t0009g0006 a0006c0006t0009g0108 a0006c0006t0009g0112 a0006c0006t0009g0113 a0006c0006t0009g0114 a0006c0006t0009g0117 a0006c0006t0009g0119 a0006c0018t0001g0335 a0006c0018t0001g0339 a0007c0012t0001g0022 a0007c0012t0001g0198 a0007c0012t0001g0201 a0007c0012t0001g0214 a0007c0012t0001g0216 a0007c0012t0001g0217 a0007c0012t0001g0218 a0007c0012t0001g0221 a0007c0012t0012g0199 a0007c0028t0001g0252 a0007c0028t0001g0337 a0007c0065t0001g0039 a0007c0071t0001g0206 a0007c0076t0001g0215 a0008c0007t0003g0003 a0008c0007t0003g0194 a0008c0007t0003g0195 a0008c0007t0003g0208 a0008c0007t0003g0209 a0008c0007t0003g0210 a0008c0007t0003g0211 a0008c0007t0003g0213 a0008c0007t0018g0192 a0008c0007t0018g0212 a0008c0066t0001g0038 a0009c0016t0008g0342 a0013c0047t0001g0343 a0015c0030t0005g0190 a0015c0030t0005g0200 a0022c0067t0001g0037 a0025c0045t0021g0338 a0027c0075t0002g0196 a0028c0073t0001g0193	85	394	0.2157	-814	c.980 others(16): Show c.980+555_981-1251del	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(807): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19043.hp1 HG00639.hp1 NA19043.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0006 a0002c0004 a0003c0006	a0002c0004t0005 a0003c0006t0002 a0002c0004t0005 a0003c0006t0002	a0002c0004t0005g0132 a0003c0006t0002g0138 a0002c0004t0005g0132 a0003c0006t0002g0138	2	132	0.0152	-814	c.226 others(19): Show c.2268-4219_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DIAPH3_chr13_59660583_60168928	59943271	GTAACTAA others(807): Show GTAACTAAGGCCTGGAGAATTGATTTCTCCAAGGCACACAGCTACCTAGT GGTAGATTCAAGACAAGAAATCGGCTTCCTGCTTCTAGACCACTGTTACT GTACCACACTCCATTTCCTGGGGAAGGACGAACACAGACACACAGGACCA AGAAAGCCCTGTTAGAACAATAATAGCAACTGGAAATGTAATAGCTCTCA ATATGGAGCTCCTCTGAGGGCTTCCCTGTCATGATAAAGAAAATCTTAAT CTATTTCGTTCATTCATTCACTCACTCACTCCCTCCCAAATCACTGAGTT AGGCTCTCTATAGAAGAATACAGAAAAGTCAAATGTTAAGGCTTGCTCAT AAAGAATCTCGGTTGAAATTGGAACAATAAGATGTGAAGATGTGAAGATC TATTGGAACAATAAGATGTGAAGATATAAAATTATACAATAACATAATCA TTTATATAAAGTGAAAAGCATTACAGAGTTCAAGCAAATTCTGATATTTA TTCTATCAGAAGCCCAGTAAAAGTTTATTAAAAGGATAGTAAATTTTTCA ATGACCAAAGGCTTTGATTGGCCTCAATTATTTGAGGTCTCACTAATACT TATTAATAATAACAATTACTACTATTTCCTTGAGGCCAACCAAGGGAAAA GATGATGGAGGCTGGGCACGGTAGCTCATGCCTGCAAACCCAGCACTTTG AGAGGTCAAGGTGGAAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCT GGGCAACATGGCAAGACCATGTCTCTACAAGAAAAATTTTAAAATTAGCT GGGCATACTAACTCA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	206	0.0049	-814	c.207 others(21): Show c.2075-19215_2075-18402del	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	17/27			chr13	TogoVar
SYNDIG1_chr20_24464629_24671616	24476187	TTTTTCTT others(807): Show TTTTTCTTATATACTAAACCCAGAGATACAGCTCATTCATTTCAGTACTC TAATAATAGTTTAATACACTAAATTTCCTCACAAAGACAGGTTTTTGTTG AAAGCTAACTTTGAGTCAAGGGGAATAATCTGTTTTGTTATTTCTAAGTT TATTCTCTGCCCTTCATTATTATCCTGATCTTTAAAAGCTGTGGATATTG GCCGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCTAAG GCGGGCAGATCCCTTGAGGTCAGGAGTTCAGGACCATCCTGGTTAACACG GTGAAACCCCATCTCTACCAAAAATAACAAAAAATTAGCCGGACGTGGTG GCGGGCACCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATGGC GTGAACCTGGGAAGTGGAGCTTGCAGTGAGCCGAGATCCCGCCACTACAC TCCAGCCTGGGTGACAGAGCAAGACTCCAACTAAAAAAAAAACAAACAAA CAAACAAAAAAAACAAAAAAAAACTGTGGATATTAAGTATCACACACTTT GTTCACAATGGGATCATCAAGGCTCTGCTGGAAGCCTCTCCTAACTGCTC TGGACTTGGTAAGGACCCTGCAGCCTGCAGCACAGCTGTCCCACTAAAGT AGCCTGGAGCAAGGAGAGTCATTTGTCCAGCTGCATCTCTGTCCTTCTGC CATCTGCCATGGCCCTGCTCCTGTGGGTCCTCTTGTGTAACATTCATTGG TACACTTGCTAATCTGAATGTTCTGGGTGTAGGTGTATTAGCTGTAAATC GGAGCCCTAGATATA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18947.hp2 NA18957.hp2 others(4): Show NA18940.hp2 NA18947.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18986.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0007g0045 a0001c0001t0007g0270	7	268	0.0261	-814	c.-79 others(17): Show c.-79+6438_-79+7251del	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TRAF7_chr16_2150782_2183129	2162226	GGGCCTGG others(807): Show GGGCCTGGGCAGCCTAGAGAATGGGAGAGGAGACAGCAGGAGTGGTAGAC AGCCCAGGAGCTCAGGTGCAGGGAACCAAGGGCTTGAGAGCCAGCCCCTC CCTGCACACCTGTAGGCCGGGCTGGGGGGCCCCAGGCCAGACTGTGGGCA CGGTGGTGGGTGATGAGTGGCATCTTGAAGGCGCATGCAGGGCGGGCATG GCCAAAGGGACCCAGTCAGGAGGGACTGATGGAGGAGGTACTGGAGCCAG CTGGGCTCAGTGATGCCCCCTGAGCTGTGCTCCTGCTGGGTGGGGGCAGA GACCAGCTCCGCCACTTTGGCCTGGGACTGGGACTGTCCTGCTCCTCTCA GGCCCCTGGGGCCTTGGTTTGCAGCCCGGCTTCCCCAGGGTGAGAGCAGG GCCGCAGGAGTGGGCTCCCTGCTGCTGCACCGCCCCCAGAGCAAGCTTGT TCTGAGGGCTCCTGCCTTGGGAGCTGAGCCCATGGTGTGTCCTCATGGGG TGCTGCGCATGGGCCTCGAGGTGGACAGTGCAGGTGGGCCCGGGGCAGGA GTCCTGGGCACGTGGCCTTCCTCCCCACAGGGAGCTCAGCTTCAAGCCGG GGCTCGGCTGCGCTATCCGCTGCCAGCAGGAGACAGGGCTGTCCCAGCTG CATTCTGCCAGGCTCCTGGCTTCCAGGCTGCCCAAGTCCTGAAAGTGGGA CCTGCTCGGGAGGAGGGGCGCCTGCTGACAGAGCCTGGTGCCTCACGGGG GGAGAGTGGGCGTCATCCAGCATGGACAGCCCCTTCCCCGGGCTCTGTCC TGGGTGTGACCTGTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	318	0.0031	-814	c.-38 others(16): Show c.-38-1653_-38-840del	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TSBP1_chr6_32287698_32376903	32347655	GATGAAAA others(807): Show GATGAAAACAATGGCTTATTGTGGTGCTCAGAATTGTTCTCCATATTTTA TTCTAAAAGACTTTTTGTAATCTGGACTCTCCCTACCTTTCAAACTCCTC CACGATCTTTCACAACTGGCCTTCCTGCAATCTCTCATACATGCTACTCT TCTTCCCCTCTCAGGAACTTGGTGTTCTTTCTGCCTGAGATACTCTTCCC TAAGATCCTCCTGTGGCTGCCAGCTTTTCGCCATTCAGAGTCAGTTCAGA TATCTCCTCAGGGAAATTTCTTCTAATCTCCTAGCTAAAGGCCCTTACTT CTTGGTCTTGCTCTATCATATTATCTTAATTTGTTTTCTCCGTAGAATTT ACTATGATAGTCTAGTAATCATAGTAGGAATTATCTAGAAAGGGAAATCA TTGTATTTGTTTGCTTATGTGTTTATTTTCTGTCTTACCTCACTAGAATC TATGCTGTCTGTGAAATACTTATGTTGTCTTAGGTATAGCAGCTGCAGTG CTCTAAATGATTTCCCCTTTGGAGGGTTTTTATGGCAAGCCTGCCTCACA TGGGTCCTCTGCAGATTTTGCTGAAGAAACTGAATATTTGAGTTTATTGT TTAGCATGTTTCAACTCCCAAATATTTTACCCTTTCCATAAGTTAGATGC AAACAAAGTAAAACTAGATAAAACATGTTTTAATTATAAAAGTAATAAAA TATTGAGCTTGATAGCTTTCTAAGGGCACCTGTTCACAGTTGTATATACA ACAAAACAGCCTTATTCATGGGATAAGGTTATGGCACAGTATTGGATTAG CACACTAAGTCTGAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0207	1	420	0.0024	-814	c.280 others(17): Show c.280+1271_280+2084del	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	9/25			chr6	TogoVar

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