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
ABR_chr17_998519_1184981	1064579	CTGCTGTT others(899): Show CTGCTGTTATGTGAACTGAGGGCTATGTATGTTCCTCTAGACACTGTTGT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGA ACTGAGGGCTATACATGTTCCTCTAGACACTGCTGTTACGTGAACTGAGG GCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCC TCTAGACACTGTTGTTACATGAACTGAGGGCTATGCATGTTCCTCTAGAC ACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTG TTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGTGAACTGAG GGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATG CATGTTCCTCTAGACGCTGCTGTTACGTGAACTGAGGGCTATGCATGTTC CTCTAGACGCTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGA CGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCT GTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGCTGTTACGT GAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGA GGGCTATGCATGTTCCTCTAGATGCTGCTGTTACGTGAACTGAGGGCTAT GCATGTTCCTCTAGACGCTGCTGTTACGTGAACTGAGGGCTATGCATGTT CCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAG ACGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(49): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01358.hp1 HG01884.hp2 HG01978.hp1 HG02080.hp2 HG02615.hp1 HG02683.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03490.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0031 a0001c0001t0049 a0001c0001t0064 a0001c0001t0074 a0001c0001t0085 a0001c0001t0087 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0079 a0001c0010t0001	a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0072 others(49): Show a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0231 a0001c0001t0002g0083 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0116 a0001c0001t0003g0167 a0001c0001t0004g0259 a0001c0001t0005g0255 a0001c0001t0006g0085 a0001c0001t0006g0095 a0001c0001t0006g0218 a0001c0001t0007g0307 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0008g0023 a0001c0001t0008g0032 a0001c0001t0008g0041 a0001c0001t0011g0124 a0001c0001t0011g0166 a0001c0001t0013g0027 a0001c0001t0020g0160 a0001c0001t0022g0046 a0001c0001t0031g0242 a0001c0001t0049g0197 a0001c0001t0064g0136 a0001c0001t0074g0155 a0001c0001t0085g0302 a0001c0001t0087g0296 a0001c0003t0012g0118 a0001c0003t0016g0221 a0001c0003t0016g0230 a0001c0003t0017g0119 a0001c0003t0021g0277 a0001c0003t0079g0288 a0001c0010t0001g0138	52	336	0.1548	-906	c.118 others(19): Show c.1182+1592_1182+2497del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ASMT_chrX_1610059_1648081	1639601	ATGAGGAT others(899): Show ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGCTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	221	0.0045	-906	c.910 others(17): Show c.910+3042_911-2296del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8			chrX	TogoVar
BANP_chr16_87946434_88082316	88000311	TCCAGACA others(899): Show TCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTA CCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACGCGTCTCCATACACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATG CACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATG CCCGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATG CACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATG CACGCACGTGCACGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACG TCTCCATGCACGCACATGCGCGGCTGGACTTACCTGTCCTTCCAGACGTG TCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTGTCCTTCCAGACACC CAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTC CAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTC CAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTC CAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTC CAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTC CAGACACATCTCCATGCACGCACGTGTGCGGCTGTACTTACCTGTCCTTC CAGACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03139.hp2 HG02896.hp1 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0306 a0002c0003t0003g0307 a0002c0003t0003g0306 a0002c0003t0003g0307	2	333	0.0060	-906	c.363 others(17): Show c.363-3975_363-3070del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
EGFR_chr7_55014017_55216628	55067258	TGTCGTCT others(899): Show TGTCGTCTCCTGCAATGCTTTCAAGACTATTCAGAAGCACAGTGTGAAGG GAGAGCCGGAGCCCATGGGGAAATGACTCCAGAGTGTTCCACGTGTTGGA AGGCATCTGTTGGAAAACGGACATTCAAGCAAATAGTTGCCTGCATAGAC AACGCAGAATGACTGGGAAAGCCCCAACAAGTTACCTACTGGTAAATGAG GTGAGAAGCTTAAAGTGAGAACCCCATTGCTGCCTCTTTTTCACTTTAAA AACATTTAAGTTTTGAATTATGGTAAAATACACGTAAGATTTACTACTGT AACCATTTTTAAGTGTACGGTTCAGTAGTGTTAAGTATATTCACATTGCT AAGGAACCAATCTGCTACTTTTGTTTATTAATTTTTTCCTGAGGGGAAAT ATTTTTAAATTTTAAAATATTTAATTGACAAATAAAAATTGTGTATATTC AAGGTGTAGAACATGATTTCATATGCACGTACATTGTATACTCATTACCA CAATCAAAGAAATTAACACATCCAACCCACCCATAGTTGCCATTGTGTGT GCGCGGATGTGCGTGTATGTGTGTGTATGTGTGCACGTGTGCGCCTGTGT GTGTCTGTGTGTCTCTGTGTATACGTGTGTGTACATGTGTGTACGTGTGT GTTCCTGTGTATGTGTGTCTGCGCACGTGTGTATGCATGTATATGGGTAT GTGTGTACGTGTGTACGTGTGTGTGCATGTGTGTATATGTGTGTCTGTGG GCACAGGTGTGCCTGTGTGTATGTGTATATGTGTATGTGTGTACATGTAT GTACGCGTGTGCATACGTGTGTGTGTGTGCACAGGTGTGTATGTGTGTGC CTGTGTGTGTGTGTGCATGTGTGGTGGGGACACTAAAAATCTCTCATCAC CTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02809.hp1 others(6): Show HG02055.hp2 HG02572.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03225.hp1 HG03471.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0010 others(4): Show a0001c0003 a0001c0004 a0001c0010 a0001c0012 a0001c0013 a0001c0020 a0002c0008	a0001c0003t0004 a0001c0003t0019 a0001c0003t0056 others(6): Show a0001c0003t0004 a0001c0003t0019 a0001c0003t0056 a0001c0004t0060 a0001c0010t0058 a0001c0012t0067 a0001c0013t0061 a0001c0020t0004 a0002c0008t0062	a0001c0003t0004g0173 a0001c0003t0019g0183 a0001c0003t0056g0179 others(6): Show a0001c0003t0004g0173 a0001c0003t0019g0183 a0001c0003t0056g0179 a0001c0004t0060g0106 a0001c0010t0058g0181 a0001c0012t0067g0180 a0001c0013t0061g0107 a0001c0020t0004g0182 a0002c0008t0062g0172	9	248	0.0363	-906	c.88+ others(17): Show c.88+47897_88+48802del	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132231485	CGTGGAGC others(899): Show CGTGGAGCCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGT GCTACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTG ACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	182	0.0055	-906	c.107 others(21): Show c.1077+15519_1077+16424del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132231492	CCCCTACT others(899): Show CCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCTACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGGGA CAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGGAGACA GCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGT GTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0007 a0001c0040t0007	a0001c0040t0007g0002 a0001c0040t0007g0002	1	174	0.0057	-906	c.107 others(21): Show c.1077+15512_1077+16417del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
OXCT1_chr5_41725065_41875425	41745699	AAAAAATG others(899): Show AAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTA CCATCAGAGAATACTATAAACACCTCTACGCAAATAAACTAGAAAGTCTA GAAGAAATGGATAAATTCCTCGACACATACACCCTCCCAAGACTAAACCA GGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGAGG CAATAATTAATGGCTTACCAACCAAAAAACGTCCAGGACCAGATGGATTC ACAGCCGAATTCTACCAGAGGTACAAAGAGGAGCTGGTACCATTCCTTCC AAAACTACTCGAATCAATAGAAAAAGAAGGAATCCTCCCTAACTCATTTT ATGAGGCCAGCATTATCCTGACACCAAAGCCTGGCAGAGACACAACAAAA AAAGAGAATTTTAGACCAACATCCCTGATGAACATCGATGCAAAAAATCC TCAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATC CACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGCCTGGTTCAACAT ATGCAAATCAATAAATGTAATCCAGCATATAAACAGAACCAAGGAACGCA TCTTTCATTACCTCATTCCAGCAGGTCAAAACTAGGAAATCAGGGTCATA GCATCCTCCAAATTCTCTTTCAAAGGGCAACTGAATGGAATTTTCTCTGG ATCTGATAATGGCATTCTAGTCCACTGTTAGTGAGGGCTGGAGACCTTCA TTGCTCTTAATGGCACTGCATTCTCATTACTCATTCAACAAGTATTTATT GAGCACCTACTATGCACAGAGCATAGCGATAAACACACAACCTTCCTTTC TTTAACGTACCAAAAGTTCCAGACGTAGATGCTCTTCTCTTTACTCATTC TTGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	198	0.0051	-906	c.141 others(19): Show c.1419+2922_1419+3827del	OXCT1	ENSG00000083720.13	transcript	ENST00000196371.10	protein_coding	15/16			chr5	TogoVar
SNTG2_chr2_945849_1372613	1343429	AGCAGCTT others(899): Show AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01109.hp1 others(16): Show HG00099.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp2 HG02132.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02886.hp2 HG03942.hp1 HG04184.hp2 NA18969.hp1 NA19000.hp1 NA20752.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0013 a0019	a0001c0001 a0001c0002 a0003c0007 others(4): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0006c0009 a0013c0018 a0019c0030	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0013c0018t0001 a0019c0030t0001	a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0173 others(16): Show a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0173 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0092 a0001c0002t0001g0113 a0001c0002t0001g0145 a0001c0002t0001g0172 a0001c0002t0004g0051 a0003c0007t0001g0060 a0003c0007t0001g0184 a0003c0008t0001g0132 a0006c0009t0001g0162 a0013c0018t0001g0046 a0019c0030t0001g0160	19	112	0.1696	-906	c.148 others(21): Show c.1489-23851_1489-22946del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344285	GGCACTTT others(899): Show GGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGT GGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTT TTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02148.hp2 HG02273.hp2 HG01257.hp1 HG02148.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0026 a0001c0001t0001g0179 a0001c0001t0001g0187	3	121	0.0248	-906	c.148 others(21): Show c.1489-23045_1489-22140del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NKD2_chr5_1003802_1043943	1025671	TCAGCCCA others(898): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTAGTGGGCATCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGT CCCTGCTCTTCCCACCCGCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTC TTCCCACCCTCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGT GCCCCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCC CTTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCC TGCTCTTCCCACCTGCTAGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCGGTCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTC TCGGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTT TTTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCATCTGCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGTGTCCCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGG GTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01123.hp2 HG00099.hp1 HG00741.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0044 a0001c0001t0001g0160 a0001c0001t0001g0196	3	218	0.0138	-905	c.142 others(17): Show c.142-6452_142-5548del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
RABEPK_chr9_125195542_125239161	125225700	CCTGTAAT others(898): Show CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTATCTACTAAA AAACATACAAAAAATTAGCCGGGCTTGGTGGTAGGCACCTGTAATCCCAG CTACTTGGGAGGCTGAGGCAGTTGACTCACTTGAACCTGGGAGGCGGAGG TTGCAGTGAGCTGAGATTGCACCATTACACTCCAGCCTGGGTGACAGAGG AAGACTCTGTTTCAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAAAAAAAA TTTAGCTGGGCGTGGTGGTGCACACTTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGCAAGCCA AGATCGCACCACTGCACTCCAGCCTGGGTAAGAGAGTAAGACTTTGTCTC AAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTTTTGGGTGCCTGTAATC CCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTG GAGGTTGCAGTGGGCGAAGATCGCACTTGTGCATCCTAGCCTGAGCAACA GAGCAAAACTCTGTCCCCCGACCCCCTGCAAAAAAAAAAAAAAAGTTGAG TGCCACTGACATAGACAAGTAACTTGTCCAAATATTAGTCATTAAGGGAT GAAATTGTTATTGAAACATTACTTATAAAATAAATAAATAACAAGGCTGG GCACAGTGGCTCACACCTATATCCTAGCACTTTGGGATGCCGAGGTGGGC AGATTGCCTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATGGTGAAA CCCCGTCTCTATGAAAATACAAAATATTAGATGGGGCCGGGCACGGTGGC TCACGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	386	0.0026	-905	c.527 others(17): Show c.527-2183_527-1279del	RABEPK	ENSG00000136933.17	transcript	ENST00000373538.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM132D_chr12_129066726_129909025	129856113	AGAGTCCG others(897): Show AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGG GGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC GGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAAC GGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGAT GGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTC CAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACA GAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTG TAACG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	81	0.0123	-904	c.79+ others(17): Show c.79+46244_79+47147del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857741	ATAACAGA others(897): Show ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCAGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC AGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAAC GGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGG GGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTG TAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGG GAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGCTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTC CGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATG GGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACG GAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACG GGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTG TAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGG AAACGGGATGGGTGCCCTTGTAACAGAGTCCTGGGAAACGGGATGGGTGC CCTTG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	72	0.0139	-904	c.79+ others(17): Show c.79+44616_79+45519del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
DPP6_chr7_154047398_154899285	154059179	CCCATCGC others(896): Show CCCATCGCAGGGTGGGGGAGGCACCCCCCGCGAGGTAGGGACTGAGAGCC TGCCCCTGTTCCCCCACTGGCTCTTAGGACACCCATCGCAGAGGGGGGAG GCACCCCCCTTGAGGCGGGGACTGAGAGCCAGACCCTCTTCCCCCCCTGG CTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCACCTGGAGGA CTGTGGGTATTAGGTGTCCAAGTAGAAAGATCAAATCTTCCGACGGCAGG TACCTTACATGGGATTTACGATCCGACGGGTCCGAACGCAGCTCGGGAAC AGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCAGAAGGC AGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCA AACTGCAGTATGAGCAAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGA CCCGGAACTTTTGAAATGGGGATCCCAACAACAGCAAGTTTTTCATGAGT TACAAGAAAATCTTCTGACAGCCCCAGCCCTGGGGCTACCCGATCTGACA AAGCCTTTTCCATTGTATGCGTCAGAGAGAGAAAAGATGGCAGCTGGACT TTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCCGTAGCCTACGTCTCTA AACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGACGGCCTTG GCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATTCTTGGGCA AAACCTGAACATAAAGGGCCCCCATTTTGTGATGGCTGAGATCCATCCCC TCTTCCCCCCTGGCTGTTGGGACCCGCATCGCGGGAGGGGAGGCACCCCC CGCGAGGCGGGGACTCAGAGCCAACCCCTCTTCCCCCCCTGGCTCTTGGG ACCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp2 HG02280.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0007 a0001c0018t0009 a0001c0003t0007 a0001c0018t0009	a0001c0003t0007g0024 a0001c0018t0009g0023 a0001c0003t0007g0024 a0001c0018t0009g0023	2	38	0.0526	-903	c.243 others(17): Show c.243+6128_243+7030del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
PGA5_chr11_61236175_61256444	61246564	CCAGCCTG others(896): Show CCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAAATACAAAAA TTAGCCAGGTATGATGGCAGGCAACTGTACTCCCAGCTACTCAGGAGGCT GAGGCAGGGAGAATCGCTTGAGCCTGGGAGGCATAGGTTGCAGTGAACAA AGATTGTACCACTGCATCCTAGCCTGGGCAACAGAGCAAGACTCCATCTC AATAAATAAATAAATAAATAAATAAATAAATAAATAAAATAAAGTGACTA TACTTAGACCAAAATTCCATAGCACAAAAATGAAAAGATTTGATCAAGAT GTATCATGAATGATGACATTTTTCAATCATGAAAGCAAGTTTCTTTTATG ATTTAATAAAATCTAGGTTCCATTTGTGACCGGGGGCTAATTCTAGGAAT GAACAAAGAATAAATGAACAAACAAACAAATGAACAAAGAATAAACCAAA TGTCAGTTTGGGCTGAGTAGAGTGTTATGCAAGAATACCTGAGGGCATCC TCCACTTTCTTAAGACATTCAGCTTTCCTCTAACACTCACCTACATCGTC CTCTCTTGAAAGGGTTCGCCGTCATTCATGTGTCTCCTCGGTTGGTAACT ACACGTCTAGGTCCTCACTATATTGCCTTGCACTGTGAGATGTTCGCAGC AAAGGTGGGGTGGGTTCAGTGAGTGGGGTCATGTTTTAGAAATGGCCAGT TCTCGGATGATTAATTTCTTTTTTTTTTTTTTTGTGATGGGGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGCCTCACTGCAAGCTC TGCCTCCTGGGTTCATGCCATTGTCTACCTCAGCATCCCGAGTAGCTGGG ACTACAGGCATGGGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAG AGAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0002 a0012c0023t0002	a0012c0023t0002g0166 a0012c0023t0002g0166	1	404	0.0025	-903	c.656 others(15): Show c.656+420_657-952del	PGA5	ENSG00000256713.8	transcript	ENST00000312403.10	protein_coding	5/8			chr11	TogoVar
PRKCA_chr17_66297613_66815743	66798500	GTGGTGGT others(896): Show GTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0040 a0001c0002t0051g0040	1	147	0.0068	-903	c.185 others(19): Show c.1855-5364_1855-4462del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADARB2_chr10_1172313_1742525	1237810	CTCCCGGT others(895): Show CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTAC TCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCA CTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCT GCA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0087 a0001c0001t0061g0087	1	105	0.0095	-902	c.136 others(19): Show c.1361+3419_1362-3966del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931073	TCCACACA others(895): Show TCCACACAGAGCCTGGGCCTCCCCACACTCCCCACGCAGAGCCTGGGCCT TCCCCACACTCCCCACGCAGAGCCTGGACCTTCCTCCTCGCCACACAGAG CCTGGGCCTTCCTCCTCCCCACACAGAGCCTGGGCCTTCCCCACACTCCC CACACAGAGCCTGGGCCTTCCCCACACTCCCCACGCAGAGCCTGGGCCTT CCCCACACTCCCCACGCAGAGCCTGGGCCTTCCCCACACTCCTCACGCAG AGCCTGGGCCTTCCCCACACTCCCCACGCAGAGCCTGGGCTTTCCTCCTC CCCACACAGAGCCTGGGCCTTCCTCCTCCCCAAAAAGAGCCTGGGCCTCC CCACACTCTCCACTCAGAGACTGGGCCTTCCCCACATTCCTCACACAGAG CCTGGGCCTTCCTCCTCTCTACACAGAGCCTGGGCCTCCCCACCCTCCCC ACACAGAGGCTAGGCCTCCCAATACTTCTCACACAGAGCCTGGGCCTTCC TCCTCCCCACACAGAGCCTGGGCCTTCCCCATACAGAGGCTAGGCCTCCC CACACTTTTCACACAGAGCCTGGGCCTCCCTACACTCCCCACACAGAGCC TGGGCCTTCTTCCTCCCCACACAGAGCCTGGGCCTCCCTCCTCTCCACAC AGAGCCTGGGCCTCCCCACACTCCCCACGCAGAGCCTGGGCCTTCCTCCT TGCCACACAGAGCCTGGACCTTCCTCCTCCCCACACAGAGCCTGGGCCTT CCTCTTCCCCACACAGAGCCTGGGCCTCCTTACACTCCCCACACAGAGCC TGGGCCTTCCCCACATTCCCCACATAGAGCCTGGGCTTTCCTCCTCCCCA CGCAGAGGCTGGGCCTTCCTCCTCCACACACAGAGGCTGGGCCTTCCTTG TCG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	244	0.0041	-902	c.867 others(17): Show c.867-2171_867-1270del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
DMD_chrX_31114222_33216549	32683562	ATGTTCTC others(895): Show ATGTTCTCACTCATAGGTGGGAATCGAACAATGAGAACACATGGACACAG GAAGGGGAACATCACACACTGGGTCCCGTAGTGGGGTGGGGGGAGGGGGA AGGGATAGCATTAGGAGATATACCTAATGTTAAATGATGAGTTAATGGGT GCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATT GTGCACATGTACCCTAAAAGTATAATAAAAAAAAAAAGAAAGAAAGAAGG AGTGAATGTAACCATTCACCTAACAAGAAGTTTTTGAGACATATTGCCTC AATATTTCAAGGGCCACTGAGTAATAATGACTTATTTGTTTAAAAATTAA GACGGTAAAAATAGTAAGTTGTTAAATTTCCAATGAAAAAAATTGCACCA TAGAAGCAAAAGTGAAATGTTATAGCACATACAAAACACACACACACACA CATACATACACACACACACACACACACACACACACACACACACAGTGTGT ATACATAATGGATTTAGAGTTCTAGTTATGAGGATGAGACTAGGGAAATA GGCACAGAGATAAAGTGCTGTTAGAGACAACCCATATGTATAACTTCGAA TAGAACATACTCCCTATGTAAGTGTTTAGTATTATTGGTAGATATGTGTA TTGCTGTATGTATATACCCACACACACACATATATATGCACACGTAACAC ACAGATATATACTCTATTTGAAAACTTTGCTTATAATCTAACCATGTATC AGTGCTATCTTTACAGCATGGTATTAAGTATATAACTATAGCATGAATTT TAAAGATTTCATGATATTGCATTAAAAATATTTACCCTAAGTTTTATTAA TCCTATGGTGATCACTATTCAAGTGTTTATTAAACTTTCCCTCTTTGAAA ACC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18984.hp1 NA18962.hp1 NA18984.hp1	a0001 a0032 a0001 a0032	a0001c0001 a0032c0045 a0001c0001 a0032c0045	a0001c0001t0001 a0032c0045t0001 a0001c0001t0001 a0032c0045t0001	a0001c0001t0001g0082 a0032c0045t0001g0078 a0001c0001t0001g0082 a0032c0045t0001g0078	2	126	0.0159	-902	c.960 others(19): Show c.960+13406_960+14307del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	9/78			chrX	TogoVar
NKD2_chr5_1003802_1043943	1024735	ATTGTCCC others(895): Show ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCC ACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTC AGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCC CGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACT CTCTGTGGGCGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGG CGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGC CCG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0077 a0004c0007t0006g0077	1	254	0.0039	-902	c.142 others(17): Show c.142-7387_142-6486del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NUCB1_chr19_48895312_48928372	48927470	CCCACCAC others(895): Show CCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGC CATGTTGGCCAGGCCGGTCTCAAACTCCTGTCCTCAGGTGATCTGCCCTC CTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCCAGC CAACCCTGTTTCTTTCTTTTTCTTTTTTTTTTTTTTTTGATACGGAGTCT TGCTGTGTCCCCCAGGCTGGAGTGCAATGGCACAGTCTCGGCTCACTGCA ACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTA GCTGAGATTACAAACCCCGTCTCTTAAAAAAGGAAAAAAATCACATGGCA GAGTAGCATTTTAAAATAAAGTCACGAGGCTGGGCGCGGTGGCTCACGCC TGTAATCTCAGCACTTTGGGATGCTGAGGCAGGCGAATCACCCGAGGTCA GGAGTCTGAGACCAGCCTGACCTACGTTGAGAAACCCCGTCTCTACTGAA AATACAAAATTACCCGGGCCTGGTGGCGCATGCCTGTAATCCCAGCTGCT CAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCG GTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGACAACAAAAGCAAAA CTCCGTCTTAAAAAATAAATAAATAAATAACATTAAACTACGTCACTCAG CCTGTGAACAATGGCTCACGCTTATAACCCAGCAATTTGGGAGGCCGCAG CAGGTGGATCACTTGAGGTCACGAGTTCGAGACCAGCCCGGCCAACATGG TAAAACCGCATTTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGG GCGCCTGTAATCCCAGCTACTCATGAGGCAGGAGAATCGCTTGAACCCAG GAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	396	0.0025	-902	c.50 others(11): Show c.5047_*5948del	NUCB1	ENSG00000104805.17	transcript	ENST00000405315.9	protein_coding		4099		chr19	TogoVar
PIAS1_chr15_68049315_68198847	68059625	CGCTTGAA others(895): Show CGCTTGAACCTGGGAGGCAGAGGTTGCAGCGAGATTGCGCCACCGGACTC CAGCCTGGGCTACAGTGTGAGATTCCGTCTCAAACAAAAAAAAAAAAAAA AAAAAAGAAAGCAATACAAATGTTTATTTTATTTTTGTAGAGTCAGGGGT CTCACTGTGTTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAACAGTGCT GCCTCGGTTTCCCAAAGTGTTGGGATTACAGGTGTGAGACACTGTGCCTC TGTGCTCGGTTTTTACAGGTGTGAGGTACTGTGCCACTGCACCCACTCTA CAAAATTAGCTAAAATGTTGTCAGTGAAATAAATTAGTCATTCTTGGTTT GTTCATTGTCATACCTTTATTGTTTATGTTTCTGTAATATGTGAGATAAG ATTATTAAATGATGGCAGATACAGGTTTTACAAAATGTAAGCAAACATTA CTTCAGCATCAGAATGTTTGATAAAGTATGAAATCGATTATGAAGTAGTA TTTTATAATCTATTCATACTATTCTATGAATAGTAGAATTTCAAGTAGGC AAGTATGTTTGATTTTGGAAATTATATCACAGTGACCACATATTGCAAGT TTTTGTACCTTATTTAGATGCTTATCAGTTTTTTTTGTTTTGCTGGGATT ACAGGTGTGAGCCACCACGCCCAGCTGATGCTTATCAGTTTTTAACTGGC ATTTTAAAACTATATTGAACATTGCCAGACGTGGTAATCCCAGCACTTTG GGAGCCAAGGTGGACAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGAC CAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCGGGCG TGGTGGTGCGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGA ATT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0179 a0001c0001t0009g0179	1	258	0.0039	-902	c.24+ others(15): Show c.24+5293_24+6194del	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
RAP1A_chr1_111614789_111721691	111635580	TCTGAAAC others(895): Show TCTGAAACAGTGTCTCACTCTGTCGCCCAGGGTGGAGTTCAGTGGCTGCA ATCTCTGCTCACTGCAACCTCTGCCTGCAGGGTTCAAGCAATTCTCATGC CTCAGCCTCCCAGGTAGCTGGGGTTATAGGCTTGTGCCACCACACCCAGT TAATCTTTTTATTTTTAGTAGAGATGGAGTTTTACCATGTTGACCAGGCT GGTCTTGAACTCCTGACCTCTGACCTCAGGTGATCCCCCCACCTCAGCCT CCCAAAGTGTTGGAATTACAGGTGTGAGCCACTGTGCCTGGCCAGCATTG ATGTTTCCATGAAACTGAGGTAAAAGATCCCTAGGGACTGGAACAATATC TTATGCCATGTATCCCCTATTTTGGTCAACCCTGTGTATTCCCCATTAAT TAAGTGGGACGGTTAGTTCCTCACTTAGGTAGTTTCATTGTTTATGTATA CAATAAATCTTTGGCATTCACGACTTAATAGTTTAGACCTAAAGTATTTA GCATGAAAAATTTATAATCTGGTATAGGCAAAATTTTGAATTCAAGGCTG ATGTGCTGAACAAGTCTGTTAACTAGAGAATTGAATATAGCTGACAGTAT CCCAGTTTTTATTACCCAACAGTGACGTGACTTTTGTTCTCTACTTAATT TTCATCCTAGAATTAAAAACTGTTTCTTTGTGAATTTAGTGCCCGGGGAA AGCCAGTAGTTAATACTGGTTTTTGCAGATTTAGATAAACTCTTGATTTT AGACAACAAACACTATGGCAATAAAGTAAGTTTATTTTAGTAGCAATTCA ATTCATGAGTGTTGCTTATTTCTTTTCTGTTCTTCACAATGTCTTGCGCC CAGTGGAGATAATGAACAATAAGGTGTGTTTGGTAGTTTGTGAAGAAAGG TAA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0285 a0001c0001t0014g0285	1	378	0.0026	-902	c.-28 others(19): Show c.-28+15647_-28+16548del	RAP1A	ENSG00000116473.15	transcript	ENST00000369709.4	protein_coding	1/7			chr1	TogoVar
SGTA_chr19_2749715_2788273	2773070	CGGCAGGG others(895): Show CGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCGAGGG CAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGG GTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGG CCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGC GGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGA GGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCAC AGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGG GCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATG GGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCG GCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGG CGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACAC CGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAG AGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTG ACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCA CAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02809.hp2 others(2): Show HG02257.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0003 a0001c0003t0016 a0001c0012t0003 a0001c0003t0003 a0001c0003t0016 a0001c0012t0003	a0001c0003t0003g0019 a0001c0003t0003g0051 a0001c0003t0016g0052 others(1): Show a0001c0003t0003g0019 a0001c0003t0003g0051 a0001c0003t0016g0052 a0001c0012t0003g0050	5	388	0.0129	-902	c.-23 others(17): Show c.-23-4881_-23-3980del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHOX_chrX_625791_656584	647201	CGAGTAGC others(895): Show CGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTG GTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGGGATTACA GGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACA GGGTTTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCC TGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAG TAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTAT TTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCA CCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGT TTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGG TAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGC TGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTT AGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTG CCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTACAGACAGGGTTTCA GCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAAC TTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGG ATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTA GAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCAC CAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCT CCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0133 a0001c0001t0095g0133	1	218	0.0046	-902	c.27 others(11): Show c.2709_*3610del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	2709	INFO_REALIGN_3_PRIME	chrX	TogoVar
TAFA5_chr22_48484553_48756932	48667768	TGGGAGCT others(895): Show TGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGT TAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCC AGCACTCAGGACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAG GACCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTC TTCACTGGGAACTGTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGG AGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCACCGGGAGCGTTAAT CCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCA CTCAGGACCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGACC GCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGACCGCGTCTTCA CTGGGAACTGTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCT GTAATCCCCCAGCACTCAGGACCGCGTCTTCACTGGGAGTGTTAATCCCC CAGCACTCAGGGCCGCATCTTCACTGGGAGCTGTAGTCCCCCAGCACTCA GGGCCGCGTCTTCACTGGGAGCTGTAATCCCCCAGCACTCGGGGCCGCGT TTTCACTGGGAGCTGTAATCCCCCAGCACTCAGGGCCGCATCTTCACTGG GAGTGTTAATCCCCCAGCACTCAGGGCCGCGTCTTCACTGGGAGCTGTAG TCCCCCAGCACTCAGGGCCGCATCTTCACTGGGAGTGTTAATCCCCCAGC ACTCAGGGCCGCGTCTTCACTGGGAGCTGTAGTCCCCCAGCACTCAGGGC CGCATCTTCACTGGGAGTGTTAATCCCCCAGCACTCAGGGCCGCGTCTTC ACC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(11): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG01943.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02572.hp2 HG02723.hp2 NA18945.hp2 NA19010.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0036 a0001c0001t0001 a0001c0001t0002 a0001c0001t0036	a0001c0001t0001g0039 a0001c0001t0001g0067 a0001c0001t0001g0101 others(11): Show a0001c0001t0001g0039 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0002g0025 a0001c0001t0002g0162 a0001c0001t0002g0191 a0001c0001t0036g0190	14	30	0.4667	-902	c.262 others(19): Show c.262+21047_262+21948del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZFYVE9_chr1_52137089_52351634	52202176	CTGCTTAT others(895): Show CTGCTTATATGGTTTCTTCACTCCTCTTTCTCCTTGTTTAGGTTTCTTAG GATAAATTAGTTGTAATTCTTTTCTTTACTCCTCCGTAGGTATAGTGTTT TTTTGTTTTGTTTTGTTTTTTTAAGACAGTGTCTCACTCTTTTGCCCAGA CTGGAGTGCAGTGGCCTGATCTCGGTTAACCTCAACCTCCACCTCCCAGG CTCAAATGATTCTCCTGCATTAGGCTCCCAAGTAGCTGGGATTACAGGCT TGCGCCACTACCGTCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACTATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAAGTGATCCAC CTGCCTCAGCCTCCCAAAGTGCTAGAATTACAGGCATGAGCCACTGTGCC TGGCCCAGGTCTTATTTATTGATGCATTCCGACAGTCTGTGTCTTTTCAT TGGTGCATTTAGACCATTGACCTTCAAAGCAATTTTTTTAAAAAAAATTA TTTTATGTATTCATTTATTTATTTTTTTGAGATGAAGTCTTACTCTGTCA CCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCT CCCAGGTTCAAGCAATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTA CAGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCGCCACATGGGCCAGGTTGGTCTCGAACTCCTGACCTTAGGTGA TCCCCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCACAGCCCAAAGTGATTATTAATATAATCTCCTTCACTTTTGAAGGA CAATTTTATAGGGGTACAGATTTTTAGGTTGGTCTTTTTTTTCTCTTTCT TCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 NA20129.hp1 HG02258.hp2 HG02647.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0028 a0001c0001t0001g0098 a0001c0001t0001g0104	3	208	0.0144	-902	c.-14 others(21): Show c.-142-13988_-142-13087del	ZFYVE9	ENSG00000157077.16	transcript	ENST00000287727.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1236368	CACTCCCC others(894): Show CACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTT ACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAG CCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTG AAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAA CGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTT TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCT CCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGCCTCC GGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGG GTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCCGGTG TTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGT TT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0011 a0002c0002t0006g0011	1	80	0.0125	-901	c.136 others(19): Show c.1362-3424_1362-2524del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CCL5_chr17_35866491_35885360	35884154	TGGCCTCC others(894): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA CAAAAAGTCTTTTTTAAAACAGATGGGTAGTTGAGGCTTAGAGTGGTTAA GTGACTTATAGTCTGGGTTCATGGGCTTTCTACCACACTTCATTGTTTCT AGAGAAAATCATAAAACTATTACCAAGGCTCAGTTTTCTTCTGTGAGCTC AATTTCTGTTTTCTTTCCTTGATTTCAGTTTCCCTCTTTAAGGAAGAAAG GAAAGTGTTTTCCTGGATACTAGATATGCTGAGTTGGGACAGGAGCTAAG GATAGAGGTGAGGAAACCCGCAGACAACAGCGACATGCTCCTCATCTTTG AGTCCCAGCGAACCTTTCCACTGTGTGTGTGTGTACGTATATCTGTGTAT AAGTGGTGGTGGGACAGAGGTTGGGTGGGTAGGATGGTGGGATGTTGGGA TTGCTGAGTGGGAATAGGCAGTGGGAATGTCAAAAGTATTTTTGTTGTTG TTGTTTGAAACAGGATCTCACTCTGTTCCCCAGGCTGGAATGCAGTTAAC TGATCACCTGCAGGCTTGAACTCCAGGGTTCAAGCGATCCTCCTACTTCA GCCTCCTGAGCAGCTAAGGACTACAGGTGTGCACCACCATGCTGGGCTAA TTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTTCGCCTCCCGGGTTC ACGCCATTCTCCTGTCTCAGCTTCCCAAATAGCTGGGACTACAGTCTCCC ACCACCATGCCCGGCTAATTTTTTGTATTTGTAGTAGAGATGGGGTTTCA CTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCACC TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02071.hp2 HG02132.hp1 others(18): Show HG00673.hp2 HG02071.hp2 HG02132.hp1 HG02165.hp2 NA18951.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA19000.hp2 NA19001.hp1 NA19006.hp2 NA19007.hp2 NA19054.hp2 NA19068.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0071 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0003g0004 a0001c0001t0003g0029 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0012g0059 a0001c0001t0012g0061	21	373	0.0563	-901	c.-47 others(11): Show c.-4750_-3850del	CCL5	ENSG00000271503.7	transcript	ENST00000605140.6	protein_coding		3795		chr17	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(894): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	273	0.0037	-901	c.22 others(11): Show c.2263_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
RAP1A_chr1_111614789_111721691	111635582	TGAAACAG others(894): Show TGAAACAGTGTCTCACTCTGTCGCCCAGGGTGGAGTTCAGTGGCTGCAAT CTCTGCTCACTGCAACCTCTGCCTGCAGGGTTCAAGCAATTCTCATGCCT CAGCCTCCCAGGTAGCTGGGGTTATAGGCTTGTGCCACCACACCCAGTTA ATCTTTTTATTTTTAGTAGAGATGGAGTTTTACCATGTTGACCAGGCTGG TCTTGAACTCCTGACCTCTGACCTCAGGTGATCCCCCCACCTCAGCCTCC CAAAGTGTTGGAATTACAGGTGTGAGCCACTGTGCCTGGCCAGCATTGAT GTTTCCATGAAACTGAGGTAAAAGATCCCTAGGGACTGGAACAATATCTT ATGCCATGTATCCCCTATTTTGGTCAACCCTGTGTATTCCCCATTAATTA AGTGGGACGGTTAGTTCCTCACTTAGGTAGTTTCATTGTTTATGTATACA ATAAATCTTTGGCATTCACGACTTAATAGTTTAGACCTAAAGTATTTAGC ATGAAAAATTTATAATCTGGTATAGGCAAAATTTTGAATTCAAGGCTGAT GTGCTGAACAAGTCTGTTAACTAGAGAATTGAATATAGCTGACAGTATCC CAGTTTTTATTACCCAACAGTGACGTGACTTTTGTTCTCTACTTAATTTT CATCCTAGAATTAAAAACTGTTTCTTTGTGAATTTAGTGCCCGGGGAAAG CCAGTAGTTAATACTGGTTTTTGCAGATTTAGATAAACTCTTGATTTTAG ACAACAAACACTATGGCAATAAAGTAAGTTTATTTTAGTAGCAATTCAAT TCATGAGTGTTGCTTATTTCTTTTCTGTTCTTCACAATGTCTTGCGCCCA GTGGAGATAATGAACAATAAGGTGTGTTTGGTAGTTTGTGAAGAAAGGTA AA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0284 a0001c0001t0014g0284	1	378	0.0026	-901	c.-28 others(19): Show c.-28+15649_-28+16549del	RAP1A	ENSG00000116473.15	transcript	ENST00000369709.4	protein_coding	1/7			chr1	TogoVar
ABR_chr17_998519_1184981	1117445	GTTATCCC others(893): Show GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCC TCCCCAGCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTGAAC CCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTAT CCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCC AGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAG TTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCT CCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCA GCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGAGT TCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTTCCCAGCGTTATCCCTGA GCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCCCCCAGCGTT ATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTC CCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCT GAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCC CTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGC A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp2 HG01952.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0067 a0001c0001t0008 a0001c0001t0067	a0001c0001t0008g0010 a0001c0001t0067g0159 a0001c0001t0008g0010 a0001c0001t0067g0159	2	279	0.0072	-900	c.246 others(17): Show c.246+6838_246+7737del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADAMTS10_chr19_8575240_8615715	8598827	GGCCTCCC others(893): Show GGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCGGGCTGG AAACCCCCAGGAAATTCTGAAAGCCCTAGGGAGAGAGGCCAGGCTCAGGC ACAACTGAGGGCCATCAGAGACGACACTACACAACATTTTGGACCCTCTG CCTGTCTGCTAAACTTTTTGTTTTCCCTTTTGCTTCAGTGAAACAAGAGC ACCATTCATCAAGCCCTTACTATGTGCCAAATAGCCTACCTGGCTTCCCT TCCACCAATCCTTACTCTCTAGGGTAGCTACCATTATATCTCCATTTGAT ACACTGGTACGCTGAGGCTTAGAGAGGTCAAGAATCTCGCCTGAGATCTA GGATGGAAATGGACTATATCTGAAGGTGGGTTGGGGAGGTCAGCCTGTAG GAATTTATAAGTAGGTGCTTGTGCAAGAATGCTGCGTGAATACGGATGTG TGCCTGTGTGTGTACTGCTAACCTCAACGAGTACCTGTGAGCTACCTATC TATCATCTATCTATCTATTTTGAGATGGAATTTCCCTCTTGTTGCCCAGG CTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCCGGG TTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGTG CCCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACC CACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCC AGCCTACTGCGATTTATTTATTTATTTATGAATGAATGAATGACAGGGAT TATAACCCACTGCGTCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTC A	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0195 a0001c0009t0001g0196 a0001c0009t0001g0195 a0001c0009t0001g0196	2	381	0.0052	-900	c.810 others(17): Show c.810+1201_811-1511del	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	6/25			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1238037	TTACTCCC others(893): Show TTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACT CCCCTCTCCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCC CCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCT GCATCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCACTC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCC CTCTGTCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCC CTGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGG TGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCG A	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0103 a0001c0001t0057g0103	1	106	0.0094	-900	c.136 others(19): Show c.1361+3194_1361+4093del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
C1orf159_chr1_1076823_1121089	1077395	AGGCTGAG others(893): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGG AGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG ACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGG T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02055.hp2 others(5): Show HG01109.hp2 HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02630.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0039 a0001c0001t0006g0044 a0001c0001t0006g0068 others(5): Show a0001c0001t0006g0039 a0001c0001t0006g0044 a0001c0001t0006g0068 a0001c0001t0006g0102 a0001c0001t0006g0227 a0001c0001t0006g0293 a0001c0001t0006g0304 a0001c0001t0019g0307	8	263	0.0304	-900	c.45 others(11): Show c.4598_*5497del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4427		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077425	AGGCTGAG others(893): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTC TATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG A	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	290	0.0034	-900	c.45 others(11): Show c.4568_*5467del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4397		chr1	TogoVar
CROCC2_chr2_240901336_240998311	240908000	GCTCTACC others(893): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA CCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG02258.hp1 HG02970.hp1	a0016 a0041 a0016 a0041	a0016c0073 a0041c0074 a0016c0073 a0041c0074	a0016c0073t0007 a0041c0074t0007 a0016c0073t0007 a0041c0074t0007	a0016c0073t0007g0232 a0041c0074t0007g0231 a0016c0073t0007g0232 a0041c0074t0007g0231	2	339	0.0059	-900	c.78+ others(15): Show c.78+1452_78+2351del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979099	GCCCAGGC others(893): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGACTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA T	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	227	0.0044	-900	c.440 others(19): Show c.4402-3760_4402-2861del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979909	TCCCAGGC others(893): Show TCCCAGGCTCATCCCTGCTCCGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAAGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CTGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGA TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGG AGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCT CAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGA G	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18951.hp2 HG02129.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0002 a0001c0022t0002 a0001c0001t0002 a0001c0022t0002	a0001c0001t0002g0265 a0001c0022t0002g0239 a0001c0001t0002g0265 a0001c0022t0002g0239	2	337	0.0059	-900	c.440 others(19): Show c.4402-2951_4402-2052del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765955	GTTGGGGA others(893): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0380 a0002c0002t0008g0380	1	408	0.0025	-900	c.130 others(18): Show c.1307-1655_1307-756del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805486	TCCCCCCT others(893): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	267	0.0037	-900	c.13 others(11): Show c.1321_*2220del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1200		chr2	TogoVar
GRHL2_chr8_101487439_101674726	101608720	TCTCTGCT others(893): Show TCTCTGCTCACTCTCTCACACACACACACACACACACACACACACACACA CACACACACCTACACCTCATTTCTAAGTACTTCAGCATGTAGAGAGGTCC TCTTTCTGTGGGATCAGGAAGACACAAGGAAGGACGTGGCATGTAGGGTG TGTCTTCAGGGTCAGGTGGACTTAGACATAAGGAAGTTGGAAGAAGAGTG TATGGTAGGGAACAAGGGGGTGTCCAAAGGTGCAGAACCTGGAAAGCACA AGGAGAGAGGGCACTGTGCCACTCAGGAGAGTGTGACACTCAGGAGAGAA GTTAGTGTTAATTGTAAAGAGGGGATGATTGAAGTCATGAGAAAGGACGA GATTGCTGGGGAGAGAATTGGAGGGTGGGCAAAACAGGGTGAAGTATAGG ACTTATACATTCTCCATTTAGAAAATGTAGAGGGAGGGGAGCTGGAGAAG GAAGGGGTGGTGAGTAAGAGCAGAGAAGAAGAACAGGGAAGGAAGGAAGG GGAAGGAGAACGAAGAGGACAAGGAGAGGGCCACCAAAGTCCAATGGTTT AGGCAGTGGTTGCTCAAACTGTGGTCCTCAACAAGCAGCATCAGTGCTGA CTTCGTAGATTGTTAGAAACACAAATACTTGTCTCCCAACCCAGGTCCAC TGAATTAGAAACTCTGGGGGTGAGGCCCTTTAACCTGTGTTTCAGCCAGG CCTCCTGGCGATTCTGATGCACGCTAAATTAGGAAACGCCTGATATAAAG ATGCTGCTAAGAAGGCTGCCCTTGATTTAAAGAAAGCAATTTCAGAAGTA AATTTATACACGCACATGTGAACAAAAGCCACGTAGAAAGACATTCATTG CAGCATTATTTATGACAGGAAAACACTGGAAACAACCTAATGTTGAAGAA A	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03225.hp2 others(3): Show HG02622.hp1 HG02647.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0028 a0001c0001t0001 a0001c0001t0007 a0001c0001t0028	a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0239 a0001c0001t0001g0251 a0001c0001t0007g0162 a0001c0001t0028g0255	6	304	0.0197	-900	c.109 others(19): Show c.1098+9570_1099-9919del	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	8/15			chr8	TogoVar
MAX_chr14_65070127_65107517	65071825	AGCCTCCA others(893): Show AGCCTCCAAAACCCATGCACAGGCCTGCCTGGTGCAGTCACCCAGTCCTA CCTATAGTTAAGCCTGGCTTAGCCAAATTGGTTTTCTCCCTGAGGAAGTT AACTAGAAACTATTTTTTATTCCCTTCCCAAGGGAACTTTGGGGATGTAT GAGTTAGCCGCTGCCCTAGTAAACCCTAGACACTGAAGGAAATTCTCTAT TCGCTATCTAGCAGTGTAGACATTGACAAACTCTTTTTTCCTACCTGGGT TTCCTCTTCAGGCTAGAGAAACAGTTTTGAAGAAAGGAATGCTCTAGTTT CATGTTCCCAGAGGCTTTTGAGAATGCATCCTGGTGACCAGGCCTGAGAG AGACCCTTGCTCTGGCTGGATTATAAAACCTGCCTGGGGACCAGAGGCCA GCCTAGGCATGCTACAGAAATGAGTGCTGCCCCATGTCATTACCCCTGCT TGGGGCTTCTAAAGGGGCTAGTGTAGGCAGCCCTCAGCTTTCTTCCTTCT CAAGTTTAAAAACTGGGTAGCTCAGCCAGCCCCCTAGAGCATTGGAGGCA TGCTGGGAGCACGTAGACTCATCAAGGCAGCTCTAAGGGTTGAACTATTT AACAAGCCCGCCTCCCCCACCTTCATCCTGACCTCAGAACCACTTCGCTA ATTCAGCTCAGCTGTGCCTAACTTCCCCAACAGCGTCCTTTTGGTTCCCC GGGTTATATTACTGTTGGGAGTCAAACCTGAGTGACTTGAGGACCACCTG AAAGAGCTTGTTAAACTGACTGGTGAGCCACGGCACACTTTAGATTAGAG GGGTTAGAGCCCAGGAATCCTTTTAACAAGCAGCCCTGGGCATGATCCAA GGATCCCACTTTGAGTAACACCACATGGGGCTTCTGAGCAGTTCTGCCTG G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	380	0.0026	-900	c.37 others(11): Show c.3751_*4650del	MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding		3301		chr14	TogoVar
NEU4_chr2_241804193_241822413	241805486	TCCCCCCT others(893): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAA GGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	280	0.0036	-900	c.-37 others(11): Show c.-3791_-2892del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3706		chr2	TogoVar
RNF223_chr1_1065967_1079306	1077395	AGGCTGAG others(893): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGG AGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTTGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG ACGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGCGTCTATGGGGACTCCGTGAGGGG T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG03453.hp2 others(1): Show HG02055.hp2 HG02630.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0006g0011 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0006g0011 a0001c0001t0006g0040	4	271	0.0148	-900	c.-42 others(11): Show c.-4289_-3390del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3090		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077425	AGGCTGAG others(893): Show AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGTC TATGGGGACTCCGTGCCGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGC TATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTTGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACT CCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG A	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG03516.hp2 HG02451.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0012 a0001c0001t0001g0038	3	286	0.0105	-900	c.-43 others(11): Show c.-4319_-3420del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3120		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743875	CCCTGGCT others(893): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGC AGAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTATCCTGGTTACTAGCACAGCCCTGGTTACTA GCACTATCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGC ACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCAGAGCCCTGGCTACTAGCACTCTCCTGGTTACGAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG T	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01516.hp1 HG02273.hp2 others(3): Show HG00438.hp2 HG01516.hp1 HG02273.hp2 HG03831.hp1 HG03834.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0030 others(2): Show a0001c0003 a0001c0018 a0001c0030 a0001c0051 a0001c0052	a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 others(2): Show a0001c0003t0004 a0001c0018t0016 a0001c0030t0003 a0001c0051t0060 a0001c0052t0003	a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 others(3): Show a0001c0003t0004g0119 a0001c0018t0016g0120 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0051t0060g0115 a0001c0052t0003g0149	6	184	0.0326	-900	c.655 others(18): Show c.655-10119_655-9220del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
TACC2_chr10_121984163_122259542	122200401	GCACCTCA others(893): Show GCACCTCACCTGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACC TCACCTGCCCACAGTGGCCACATCTACAGTGAGAGGACGGGCACCTCACC TGCCCACAGTGGCTGTGTTCACATGGGGAGGACAGTTACCTCACCTGCCC ACAGTGGCTGCGTTCACATGGGGAGGACGGCCACCTCACCTGCCCACAGT GGCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCCACAGTGGCCA CATTTACAGTGAGAGGATGGCCACCTCACCTGCCCACAGTGGCCATGTTC ACATGGGGAGGACGGCGACCTCACCTGCCCACAGTGGCCGTGTTCACATG GGGAGGACGGCCACCTCACCTGCCCACAGTGGCCATGTTCACATGGGGAG GACGGCGACCTCACCTGCCCACAGTGGCCACATCTACACTGAGAGGATGG CGACCTCACCTGCCCACAGTGGCCACATCTACACTGAGAGGACGACCACC TCACCTGCGCACAGTGGCTGTGTTCACACGGGGAGGACAGCGACCTCACC CGCCCACAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCC AGAGTGGCCACATCTACAGTGAGAGGACGGCCACCTCACCCGCCCACAGT GGCCACATCTACAGTGAGAGGACGGCCACCTCACCTGCCCACAGTGGCCA CATCTACAGTGAGAGGACGGCCACCTCACCTGCCCACAGTGGCCACATCT ACAGTCAGAGGACGGCCACCTCACCTGCCCACAGTGGCCACATCTACAGT GAGAGGATGGCCACCTCACCCGCCCACAGTGGCCACATCTACAGTGAGAG GACGGCCACCTCACCTGCCCACAGTGGCTGCGTTCACATGGGGAAAACGG C	G G	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	303	0.0033	-900	c.597 others(19): Show c.5971+5250_5971+6149del	TACC2	ENSG00000138162.19	transcript	ENST00000369005.6	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14856886	GGGCAGAG others(892): Show GGGCAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCTGGGCAGAGGCGCT CCTCACTTCCCAGATGGGGCAACCAGGCAAGAGGTGCTCCTCATTTCCCA GATGGGGCGGCTGGGAAGAGGCACTCCTCACCTACCAGACGAAGGGCAGC CAGGCAGAGGCACTCCTCACATCCCAAACGATGGGTGGCCGGGCAGAGGC ACTCCTCACCTCCCAAACGGGGCGGCTGGGCAGAGGTGCTCCTCACCTCC CAGGGGGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATGGGCA GCCAGGCAGAGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAGAGGC ACTCCTCACCTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCACTTCC CAGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGGCGGC CTGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGGC GCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGCCTCC CACATGGGGTGGCCGGGCAGAGGCACTCCTCACCTCCTAGATGGGGTGGC TGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGAGGCGC TCCTCACCTCCCAGATGGGGCGGGCTGGCAGAGGCGCTCCTCACCTCCCA GATGATGGGCAGCTGGGCAAAGGCGCTCCTCACCTCCCAGACTGGGCGGC CAGGCAGAGGCGCTCCTCGCCTCCCACATGGGGTGGCTGGGCAGAGGCGC TCCTCACCTCCTAGATGGGGTGGCCGGGCAGCGGCGCTCCTCACCTCCCA GACGGGGAGACCAGGAAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01106.hp1 HG01109.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0274 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0002g0274 a0001c0001t0003g0273 a0001c0001t0003g0277	3	314	0.0096	-899	c.27 others(11): Show c.2729_*3627del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		2220		chr18	TogoVar
ANKRD30B_chr18_14743172_14859667	14858506	GGGCAGAG others(892): Show GGGCAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCTGGGCAGAGGCGCT CCTCACTTCCCAGATGGGGCAACCAGGCAAGAGGTGCTCCTCATTTCCCA GATGGGGCGGCTGGGAAGAGGCACTCCTCACCTACCAGACGAAGGGCAGC CAGGCAGAGGCACTCCTCACATCCCAGACGATGGGTGGCCGGGCAGAGGC ACTCCTCACCTCCCAGACGGGGCGGCTGGGCAGAGGTGCTCCTCACCTCC CAGGGGGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATGGGCA GCCAGGCAGAGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAGAGGC ACTCCTCACCTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCACTTCC CAGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGGCGGC CTGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGGC GCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGCCTCC CACATGGGGTGGCCGGGCAGAGGCGCTCCTCACCTCCTAGATGGGGTGGC CGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGAGGCGC TCCTCACCTCCCAGATGGGGCGGGCTGGCAGAGGCGCTCCTCACCTCCCA GATGATGGGCAGCTGGGCAAAGGCGCTCCTCACCTCCCAGACTGGGCGGC CAGGCAGAGGCGCTCCTCGCCTCCCACATGGGGTGGCTGGGCAGAGGCGC TCCTCACCTCCTAGATGGGGTGGCCGGGCAGCGGCGCTCCTCACCTCCCA GACGGGGAGACCAGGAAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(180): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(23): Show a0001 a0002 a0004 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0022 a0023 a0024 a0025 a0030 a0031 a0034 a0035 a0038 a0040 a0041 a0042	a0001c0001 a0001c0003 a0001c0011 others(36): Show a0001c0001 a0001c0003 a0001c0011 a0001c0015 a0001c0036 a0001c0037 a0001c0041 a0001c0059 a0001c0060 a0001c0063 a0002c0002 a0004c0007 a0004c0022 a0004c0045 a0007c0009 a0008c0010 a0009c0012 a0011c0013 a0012c0049 a0013c0047 a0014c0031 a0014c0050 a0016c0016 a0017c0018 a0018c0032 a0018c0051 a0020c0054 a0022c0065 a0023c0043 a0024c0056 a0025c0062 a0030c0035 a0031c0039 a0034c0042 a0035c0033 a0038c0057 a0040c0061 a0041c0034 a0042c0058	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0011t0003 a0001c0015t0001 a0001c0036t0002 a0001c0037t0003 a0001c0041t0001 a0001c0059t0002 a0001c0060t0002 a0001c0063t0004 a0002c0002t0001 a0004c0007t0001 a0004c0022t0001 a0004c0045t0010 a0007c0009t0007 a0008c0010t0001 a0008c0010t0008 a0009c0012t0002 a0011c0013t0005 a0012c0049t0001 a0013c0047t0001 a0014c0031t0003 a0014c0050t0003 a0016c0016t0003 a0016c0016t0004 a0017c0018t0005 a0018c0032t0002 a0018c0051t0003 a0020c0054t0001 a0022c0065t0001 a0023c0043t0001 a0024c0056t0001 a0025c0062t0001 a0030c0035t0004 a0031c0039t0009 a0034c0042t0005 a0035c0033t0004 a0038c0057t0003 a0040c0061t0002 a0041c0034t0004 a0042c0058t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0112 a0001c0001t0003g0057 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0011g0024 a0001c0001t0013g0240 a0001c0003t0001g0003 a0001c0003t0001g0122 a0001c0003t0001g0127 a0001c0003t0001g0184 a0001c0003t0001g0191 a0001c0003t0001g0193 a0001c0003t0001g0218 a0001c0003t0002g0099 a0001c0003t0002g0108 a0001c0003t0002g0113 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0125 a0001c0003t0002g0129 a0001c0003t0002g0149 a0001c0003t0002g0153 a0001c0003t0002g0155 a0001c0003t0002g0157 a0001c0003t0002g0186 a0001c0003t0002g0194 a0001c0003t0002g0203 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0220 a0001c0003t0002g0222 a0001c0003t0003g0212 a0001c0003t0004g0242 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0296 a0001c0003t0004g0301 a0001c0003t0004g0303 a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0009g0226 a0001c0003t0009g0227 a0001c0011t0003g0221 a0001c0011t0003g0268 a0001c0011t0003g0271 a0001c0011t0003g0278 a0001c0015t0001g0064 a0001c0015t0001g0065 a0001c0015t0001g0066 a0001c0036t0002g0190 a0001c0037t0003g0189 a0001c0041t0001g0247 a0001c0059t0002g0052 a0001c0060t0002g0079 a0001c0063t0004g0295 a0002c0002t0001g0160 a0004c0007t0001g0007 a0004c0007t0001g0297 a0004c0007t0001g0307 a0004c0007t0001g0308 a0004c0022t0001g0299 a0004c0045t0010g0091 a0007c0009t0007g0004 a0007c0009t0007g0224 a0007c0009t0007g0225 a0008c0010t0001g0259 a0008c0010t0001g0260 a0008c0010t0008g0008 a0008c0010t0008g0009 a0009c0012t0002g0110 a0009c0012t0002g0151 a0009c0012t0002g0152 a0011c0013t0005g0102 a0011c0013t0005g0106 a0011c0013t0005g0107 a0012c0049t0001g0055 a0013c0047t0001g0253 a0014c0031t0003g0126 a0014c0050t0003g0061 a0016c0016t0003g0146 a0016c0016t0004g0292 a0017c0018t0005g0104 a0017c0018t0005g0105 a0018c0032t0002g0211 a0018c0051t0003g0287 a0020c0054t0001g0256 a0022c0065t0001g0192 a0023c0043t0001g0097 a0024c0056t0001g0255 a0025c0062t0001g0096 a0030c0035t0004g0304 a0031c0039t0009g0228 a0034c0042t0005g0101 a0035c0033t0004g0302 a0038c0057t0003g0272 a0040c0061t0002g0044 a0041c0034t0004g0298 a0042c0058t0002g0046	183	313	0.5847	-899	c.43 others(11): Show c.4349_*5247del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		3840		chr18	TogoVar

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