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
CEP72_chr5_607340_658553	631714	TGGATTTG others(459): Show TGGATTTGACCCAGTCCTGGTGGGGTGCTGTCCAGTGCCGGGATTTAGAC CAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTG GGGTTCTGTCCAGTGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCC AGTGCTGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATT TGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCC TGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTC TGTCCAGTGCTGGGATTTGACCCAGTCCTAGTGGGGTTCTGTCCAGTGCC GGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTAGAC CAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTG GGGTTCTGTCCAGCGCC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0029 a0003c0003t0002g0029	1	89	0.0112	-466	c.513 others(17): Show c.513-2052_513-1587del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	675808	CCCCCTCG others(459): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAG AGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGG ACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGG CGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACG CGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGA GGACAGAGACGCGGCGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp1 HG04228.hp1 others(2): Show HG00423.hp1 HG01168.hp1 HG04228.hp1 NA18977.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0256 a0001c0001t0002g0265 others(2): Show a0001c0001t0002g0243 a0001c0001t0002g0256 a0001c0001t0002g0265 a0001c0001t0002g0288 a0001c0001t0002g0289	5	272	0.0184	-466	c.305 others(17): Show c.305-2227_305-1762del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GIP_chr17_48953554_48973596	48964983	CAAAAAAT others(459): Show CAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGCCCCGGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCTGAGATTGCGCCAGTGCACTCCAGCCTGGGAGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGT GGAGGTTGCAGTGAGCTGAAATCGTGCCATTGCACTCCAGCCTGGGGAAC AAGAGCAAAACTTCGTCTCAATAAAAAAAAAAAAAAAAAAGGCTGGGTGC GGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGTGGGTGGA TCACAAAGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCG TCTCTACTAAAAATACA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	403	0.0025	-466	c.87- others(13): Show c.87-969_87-504del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5			chr17	TogoVar
IL3RA_chrX_1331785_1387689	1368652	CCTTATAA others(459): Show CCTTATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCC TGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTC AGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAG GGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGT ATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGAC GAGGACACAGACACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAA GACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGC CCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAAT GTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCT GAGATGGACTAAGACAT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	113	0.0088	-466	c.874 others(17): Show c.874+3403_874+3868del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1368713	GGGAGAAG others(459): Show GGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCA GCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAG AATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACA GCAGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGA CACACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGA TCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGAC GACCCTGTGAGGGCACA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	113	0.0088	-466	c.874 others(17): Show c.874+3464_874+3929del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1368769	CCCACACC others(459): Show CCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAA TGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCC TGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACA CAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGC CGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACAT CTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCT GTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTC AGGAGGAACCAGCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03490.hp2 HG02280.hp2 HG03490.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0007 a0005c0006t0004 a0003c0004t0007 a0005c0006t0004	a0003c0004t0007g0093 a0005c0006t0004g0042 a0003c0004t0007g0093 a0005c0006t0004g0042	2	113	0.0177	-466	c.874 others(17): Show c.874+3520_874+3985del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1370396	CCTGCCCA others(459): Show CCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGAGTAAGACATCTCATAAGAAGAGGAGATGAGGACACAG ACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTC CAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGA TCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTT CTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTA AGCCATCTCATAAGAAGAGACGAGGACACAGACACACAGAGAGGGACGAC CCTGTGAGGACACAGGGAGAAGACGGCATCTCCAAGCCCAGGAGAGGGGC CTCAGGAGGAACCAGCA	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	113	0.0088	-466	c.874 others(17): Show c.874+5257_874+5722del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1374052	GGAGGGAC others(459): Show GGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCTCCAAGCCCA GGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGAC CTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCG CCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCATCT CATAAGAAGAGACGAGGACACAGACACACACAGAGGGATGACCCTGTGAG GGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAG GAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTG TGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCT GTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGATGA GGACACAGACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0028 a0002c0002t0005g0028	1	112	0.0089	-466	c.875 others(17): Show c.875-4590_875-4125del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1374827	ACTGCCCA others(459): Show ACTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAA TCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGC AGCCTGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACA CACACAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCA AGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATC TCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCT AAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGAGTAAG ACATCTCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGA CCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGC CTCAGGAGGAACCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	110	0.0091	-466	c.875 others(17): Show c.875-3487_875-3022del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF1A_chr2_240708767_240825219	240779188	TCAGTTCC others(459): Show TCAGTTCCACACTCAGTTCCTCACAGTTCCACACTCAGTTCCACACTCAG TCCCTCACTCAGTTCCACACTCAGTTCCTCACTCACTTCCTCACTCAGTT CCTCATAGTTCCACACTCAGTTCCTCACTCACTTCCTCACTCAGTTCCTC ATAGTTCCACACTCAGTTCCTCACTCAGTTCCTCACTCAGTTCCTCATAG TTCCACACTCAGTTCCTCATCGTTCCACACTCAGGTCCTCACTCACTTCC TCACTCAGCTCCTCATAGTTCCACACTCAGTTCCTCACTCAGTTCCTCAC TCAGTTCCACACTCAGTTCCACACTCAGTTCCTCACAGTTCCACACTCAG TTCCTCATAGTTCCACTCAGTTCCTCACTCAGTTCCTCAGTTCCTCACTC AGTTCCACACTCAGTTCCTCACAGTTCCTCACTCAGTTCCACACTCAGTT CCTCACTCACTTCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0043 a0001c0044 a0001c0043 a0001c0044	a0001c0043t0022 a0001c0044t0028 a0001c0043t0022 a0001c0044t0028	a0001c0043t0022g0272 a0001c0044t0028g0144 a0001c0043t0022g0272 a0001c0044t0028g0144	2	328	0.0061	-466	c.882 others(17): Show c.882+2936_883-3263del	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
MYH13_chr17_10295865_10378006	10298302	ACCATACA others(459): Show ACCATACAATTTATCTGTTTAAAGTCTAAAATTGAATGGCTTTTAATATA TTCACAGTTATGCTGCCACCACCACAATCAATTTTAGAACATCCGTTTTC CCAAAAGAAACCCTGTGCCTCTTGCTGTCACCCCAACCGCCTCATCCCTC CTGGCAAAGCTATGATTTTTATTGTTATCTACACCTTACAGAATAAGGAA ATTGAGACTAAGCAATGAGAATAACTTGCCCATGACCACACAGTTGGTAT GTGACAGCACTGGGATTCCATCTAGGTTTGCCAGAACCTAAAGCCTGTGC TTCTGTCCACACAGGTCAGTTTGACCAATGAGGAAACTCAGGTTCAGAGA ATATATGTGATCAACCCAAGGCCACACAGCTACAGCTATTAAGTGGTCAG GATGAGGCTCACATTTAGACTTGGCTCCTAATCCACCCATAAGTGTCCTT ATTCCATTTTACTGTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG02258.hp1 others(9): Show HG00741.hp1 HG01109.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02717.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03540.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0003 a0001c0014 a0001c0022 others(6): Show a0001c0003 a0001c0014 a0001c0022 a0001c0046 a0001c0062 a0001c0090 a0001c0111 a0002c0005 a0023c0074	a0001c0003t0001 a0001c0014t0001 a0001c0022t0001 others(6): Show a0001c0003t0001 a0001c0014t0001 a0001c0022t0001 a0001c0046t0001 a0001c0062t0001 a0001c0090t0001 a0001c0111t0001 a0002c0005t0001 a0023c0074t0001	a0001c0003t0001g0238 a0001c0014t0001g0372 a0001c0022t0001g0149 others(9): Show a0001c0003t0001g0238 a0001c0014t0001g0372 a0001c0022t0001g0149 a0001c0022t0001g0181 a0001c0022t0001g0334 a0001c0046t0001g0319 a0001c0046t0001g0343 a0001c0062t0001g0273 a0001c0090t0001g0364 a0001c0111t0001g0078 a0002c0005t0001g0338 a0023c0074t0001g0076	12	380	0.0316	-466	c.21 others(11): Show c.2183_*2648del	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding		2562		chr17	TogoVar
OTUD7A_chr15_31470398_31875673	31511218	CATACATA others(459): Show CATACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATATATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATAT ATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACAC ACACATATATGTATATCTATATGTAACACACACATATATGTATATCTATA TGTAACACACACATATATGTATATCTATATGTAACACACACATATATGTA TATCTATATGTAACACACACATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAA CACACACATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	241	0.0041	-466	c.894 others(17): Show c.894-7866_894-7401del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PERM1_chr1_970198_987093	977374	CCCCCACC others(459): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACC CCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCC ACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCG CCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCC GGGAACCGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0048 a0001c0015t0002g0048	2	406	0.0049	-466	c.214 others(18): Show c.2149+1041_2150-751del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977374	CCCCCACC others(459): Show CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCC CACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCG CCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACC AACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTC CCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACC CCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTGCCCCC ACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCG CCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCC GGGAACCGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp2 NA18988.hp1 HG02976.hp2 HG03139.hp2 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0016 a0002c0008t0008 a0002c0002t0016 a0002c0008t0008	a0002c0002t0016g0042 a0002c0008t0008g0143 a0002c0002t0016g0042 a0002c0008t0008g0143	3	420	0.0071	-466	c.28 others(11): Show c.2800_*3265del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1510		chr1	TogoVar
RBAK_chr7_5040860_5074487	5071684	CCAGAAAT others(459): Show CCAGAAATGGCATAGATGATGGAATTAGTGATCAGGACATTAAAACAGCT ACTATGAATATTCCCCGTATGTTCAAGAAGAATGGAGAATGAACGAGAGT GAGGGACCGGAAACGACTGTGTTCCATGCTGAGGGTGGCAGAGGCTGGCC TGGATGCTGGATGAGGCTCAACTCGGGGGCCTGGGCTGTTGCACTGGGGC TGGACTGGGGATCACGGAAGAGGGCCAGGCCCGCGTGGGTCTCCAGGGCT GTGCTCAGGGGCGTGGTCTTCTGCAGTGGGGGCTTGGCTGGTGAGTGGAG ACTCTGCGTGACTCTGGGGGCGTGGCCGAGAATGGGTGTAGCTCTGTACT AGGGCGTGGTCATGCGTAGGGGTTTGGGTGAGGCGTTAACAGTGGGCGGG CGTGGCTCGGGCTCGAGGGCGTGGCTCAGGCTCGTGGAGGCGTCCGAGCT CCAGGGCAGCTCTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02717.hp2 others(6): Show HG02258.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 others(5): Show a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0011g0109 a0001c0001t0011g0204 a0001c0001t0018g0041 a0001c0001t0018g0077 a0001c0001t0018g0105	9	436	0.0206	-466	c.60 others(11): Show c.6084_*6549del	RBAK	ENSG00000146587.18	transcript	ENST00000396912.2	protein_coding		2198		chr7	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(459): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02451.hp1 others(8): Show HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02895.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp1 NA19043.hp2 NA19062.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0022 a0001c0023	a0001c0001t0007 a0001c0001t0050 a0001c0004t0010 others(6): Show a0001c0001t0007 a0001c0001t0050 a0001c0004t0010 a0001c0004t0042 a0001c0004t0043 a0001c0010t0026 a0001c0010t0027 a0001c0022t0051 a0001c0023t0052	a0001c0001t0007g0139 a0001c0001t0050g0010 a0001c0004t0010g0003 others(8): Show a0001c0001t0007g0139 a0001c0001t0050g0010 a0001c0004t0010g0003 a0001c0004t0010g0005 a0001c0004t0010g0006 a0001c0004t0042g0002 a0001c0004t0043g0004 a0001c0010t0026g0017 a0001c0010t0027g0018 a0001c0022t0051g0013 a0001c0023t0052g0009	11	50	0.2200	-466	c.573 others(19): Show c.573+69221_573+69686del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
USP40_chr2_233470526_233571782	233567482	CTATATAA others(459): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAA GATTATAGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0010 a0002c0009t0010	a0002c0009t0010g0128 a0002c0009t0010g0128	1	312	0.0032	-466	c.-12 others(10): Show c.-1284_-819del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		701		chr2	TogoVar
USP40_chr2_233470526_233571782	233567560	CTATATAA others(459): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0037 a0006c0006t0004g0037	1	307	0.0033	-466	c.-13 others(10): Show c.-1362_-897del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		779		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(459): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAA GATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATAT AAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTAT ATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTT ATATAAGATTATAGTTATATAACCTTATATAAGATTATAGTTATATAACC TTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	278	0.0036	-466	c.-14 others(11): Show c.-1466_-1001del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding		883		chr2	TogoVar
ZNF569_chr19_37406157_37472444	37440213	AAAAAAAC others(459): Show AAAAAAACTAACAACAAAGAATCCTATATTTAGGAAACTTATCTTTCAAA AATGAAGGTGATTATGTTAGGTGAAAGAAGCCAGACACAAAAGGTCACAT ATTTTATTATTGTATATATATGAAATATTCAGAATAGATAATATAGCCAG AATAGGTAAATCCACAGAGACAGAATGCAGAATGGTGTTTGCCAGGGGCT AGGAGTGAGAGAGGGATAGGGGAACAGATGCTTAATGGGTATGGGGTTTT ATTTTGAGGTGATAAAAATGTTACAGAACCAGATAGAGGTGGTGGCTATA CAACACTGTGAATGTACTAAAGACCACTGAATCGTAGAATGATTAATTTT AAATATGTATGTGAATTTCAGGTAAAAAAATAAGGTGAAATAAGTAAAAA CAAAGAATTCAATGCTAGCAGACTAGCCTCATAAGAAACACGGAAGGAAG TTATTCAGACTGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	372	0.0027	-466	c.15+ others(15): Show c.15+4228_15+4693del	ZNF569	ENSG00000196437.12	transcript	ENST00000316950.11	protein_coding	3/5			chr19	TogoVar
ANKRD33B_chr5_10559070_10662816	10639428	CGCGGCGA others(458): Show CGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGT GACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCG ATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGG AGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCG CGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGA CGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGAT GTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAG TTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGC GGTGACGTGGAGTTGT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18983.hp2 NA18975.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0024 a0001c0007t0024 a0001c0001t0024 a0001c0007t0024	a0001c0001t0024g0206 a0001c0007t0024g0155 a0001c0001t0024g0206 a0001c0007t0024g0155	2	322	0.0062	-465	c.637 others(17): Show c.637+1274_637+1738del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP11A_chr13_112685038_112892168	112750087	CCCCTTCA others(458): Show CCCCTTCAGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATC CTCCCACGTGGGGACACGCCTGCTGAAGGATGCGGGGTTGAGTCCCCTTC AGCCTCTCGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCAC GTGGGGACACGCCTGCTGAAGGATGCGGGGTTGAGTCCCCTTCAGCCTCT CGTGAATTTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGA CACGCCTGCTGAAGGATGCGGGTTTGAATCCCCTTCAGCCTCTCGTGAAT TTCTGTCTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGCCT GCTGAAGGACGCGGGGTTGAATCCCTCTTCAGCCTCTCGTGAATTTCTGT CTTAGGGAAGGAGAGTCTCCATCCTCCCACGTGGGGACACGCCTGCTGAA GGATGCGGGTTTGAAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02976.hp1 HG03225.hp2 HG01261.hp1 HG02976.hp1 HG03225.hp2	a0001 a0008 a0001 a0008	a0001c0014 a0008c0023 a0001c0014 a0008c0023	a0001c0014t0003 a0001c0014t0045 a0008c0023t0002 a0001c0014t0003 a0001c0014t0045 a0008c0023t0002	a0001c0014t0003g0178 a0001c0014t0045g0056 a0008c0023t0002g0064 a0001c0014t0003g0178 a0001c0014t0045g0056 a0008c0023t0002g0064	3	252	0.0119	-465	c.40- others(17): Show c.40-35044_40-34580del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CAMK1D_chr10_12344547_12840545	12775655	AGGTGAGA others(458): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01071.hp1 others(5): Show HG00558.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp1 HG01258.hp2 HG01981.hp1 NA19012.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0042 a0001c0002t0073	a0001c0001t0003g0045 a0001c0001t0003g0179 a0001c0001t0007g0068 others(5): Show a0001c0001t0003g0045 a0001c0001t0003g0179 a0001c0001t0007g0068 a0001c0001t0009g0213 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0042g0085 a0001c0002t0073g0058	8	214	0.0374	-465	c.565 others(17): Show c.565+5858_565+6322del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DCC_chr18_52335197_53540899	52936195	TTTCCTCA others(458): Show TTTCCTCAGCTGAAACTCTGGTTGTCAAAAGGTATGCAAAATTAAGTGCA AAATATGTTTAAAAGATTCTGTTGAATATTTATATGAATTAGAAGAAGAG ACAATGTAAGTTCAGACTGTTTGTTGGTAGCAAAATGATTCGTTATTTCA GTTGGGAGTTAGAACTGGTAATGGAAATACAAGTTGGATTGGTGGTAGGA TAGGTTTATTTATTACACAAATATTTATTTGAGAGTCTACTGTGTGCTGG GCCCTCCCTTTCCTTTCTCCCTTCCACTGGAGAAAATAATGTGAGCATTG CTTTGCATATATTATTGAGATGATGATGAGTCTAATTTTTTCTTTCTTGG ACAAATGAAGTAGAGGCCCCCGAGGGAAAAGCAAAGTCTATGTACTAATA CAGACCATTAAAAAGGCAATCTAAGAATATAATTTTAATTATCCCTAACA ATCTAAGCAAGGTGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp1 others(27): Show HG00099.hp2 HG00280.hp1 HG00597.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01106.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01993.hp2 HG02257.hp2 HG02809.hp1 HG02895.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp2 HG03831.hp1 HG04228.hp2 NA18979.hp2 NA19043.hp2 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0005c0016	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(17): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0016 a0001c0002t0033 a0001c0002t0034 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0012 a0001c0003t0016 a0001c0003t0028 a0001c0003t0030 a0001c0005t0011 a0001c0007t0003 a0001c0008t0025 a0001c0008t0026 a0001c0010t0003 a0005c0016t0021	a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0003g0059 others(27): Show a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0003g0059 a0001c0002t0005g0050 a0001c0002t0006g0003 a0001c0002t0006g0006 a0001c0002t0006g0009 a0001c0002t0006g0021 a0001c0002t0016g0047 a0001c0002t0033g0112 a0001c0002t0034g0091 a0001c0003t0003g0041 a0001c0003t0004g0008 a0001c0003t0004g0052 a0001c0003t0004g0077 a0001c0003t0008g0013 a0001c0003t0012g0082 a0001c0003t0012g0100 a0001c0003t0016g0007 a0001c0003t0028g0076 a0001c0003t0030g0020 a0001c0005t0011g0045 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0001c0008t0025g0086 a0001c0008t0026g0095 a0001c0010t0003g0096 a0005c0016t0021g0033	30	114	0.2632	-465	c.985 others(19): Show c.985+10828_985+11292del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
ERICH1_chr8_659200_736224	675707	TGAGGACA others(458): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGC GCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACA GAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAG GACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCG GCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGAC GCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01169.hp2 others(1): Show HG01106.hp1 HG01168.hp2 HG01169.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0010 a0001c0001t0002g0271 a0001c0003t0001g0217 a0001c0001t0002g0010 a0001c0001t0002g0271 a0001c0003t0001g0217	4	357	0.0112	-465	c.305 others(17): Show c.305-2125_305-1661del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
KCNG2_chr18_79792938_79905100	79831264	GTCAGGAG others(458): Show GTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCG GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGCGTGCCCTGCGTA CAGAGCCTTCGTCAGGAGCGTGCCCTGCGTACAGAGCCTTCGTCAGGAGC GTGCCCTGCGTACAGAGCCTTCGTCAGGAGCGTGCCCTGCGGACAGAGCC TTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCT GCGGACAGAGCCTTCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	310	0.0032	-465	c.-11 others(21): Show c.-114-25085_-114-24621del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LARGE1_chr22_33267509_33925476	33825480	ACGATCAT others(458): Show ACGATCATGATGGAAGGGGAAGCAAACATGTCCTTCTTCACATGGTGGCA GCAAGGAGAAACGCTGACCAAAAGGAGGGAAAGCCCCTTCTAAAACTATC AGATCTCGTGAGAACTCACTCACTGTCACCACTAACACAAGGACAACAGC ATACGGGTAACTGCTCCCTTGATTCAATTACCTCCCACTGTGTCCCTCCC ATGACACTGGCGATTACACGAACTACAATTCAAGGTGAGATTTGGGTGGG GCCACAGCAAAACCATATCAGATGGTGACAGAGAGAGGGAACGAAGCCCA CTGTGGCTTTTTCCCACTACCCATCAATCCTGACTCCAACAGAGACTGGA AGCTGCTACATTCCCCAGCTGCAATTAATAAAACAAAACAGCAGGTGTGG ATGTGGGAAGGCGTTATAATGGAGGGACAAGGCTGGGAGACAGAAACTGC CACTCTTGAGTAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0108 a0001c0006t0029g0108	1	108	0.0093	-465	c.-82 others(19): Show c.-82-64387_-82-63923del	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LOC400499_chr16_11367015_11532247	11375109	TAGTGCTG others(458): Show TAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGACCTATTAACTCTT TGATGAATTGCCATATTGTCTTCCATAGCTGCAGCACCATTTTATACTCC CCGTAAGAATACACAAGGGTTCAAACAACTCAATGTCCTAACACTTGTTA TTTTCTGTATTAATTACAGCCATCCTAATGGGTCTGAAGTGGCACCTCCA TGTACTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTCTGTCACCGAG GCTGGAGTGCAGTGGCGGGACCTCAGCTCACTGCAACCTCTGCCTCCCGT GTTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGCAGCTGGGACTACAGGC ATACACCACCACTCCTGGCTAATTTTTTATTTTTAGTAGAGACGTGGTGT CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCC CACCTTGGCTTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01070.hp1 others(40): Show HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01993.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20905.hp2	a0008 a0013 a0016 others(38): Show a0008 a0013 a0016 a0025 a0029 a0048 a0063 a0070 a0075 a0076 a0078 a0085 a0093 a0104 a0108 a0112 a0123 a0124 a0136 a0137 a0139 a0140 a0142 a0144 a0148 a0149 a0152 a0154 a0157 a0158 a0163 a0165 a0173 a0175 a0176 a0195 a0198 a0199 a0229 a0243 a0252	a0008c0006 a0013c0116 a0016c0022 others(38): Show a0008c0006 a0013c0116 a0016c0022 a0025c0185 a0029c0025 a0048c0238 a0063c0259 a0070c0126 a0075c0252 a0076c0187 a0078c0265 a0085c0251 a0093c0033 a0104c0035 a0108c0031 a0112c0180 a0123c0113 a0124c0186 a0136c0092 a0137c0191 a0139c0038 a0140c0120 a0142c0085 a0144c0264 a0148c0178 a0149c0042 a0152c0051 a0154c0181 a0157c0114 a0158c0179 a0163c0040 a0165c0056 a0173c0223 a0175c0101 a0176c0072 a0195c0232 a0198c0190 a0199c0036 a0229c0192 a0243c0188 a0252c0202	a0008c0006t0005 a0013c0116t0005 a0016c0022t0005 others(38): Show a0008c0006t0005 a0013c0116t0005 a0016c0022t0005 a0025c0185t0002 a0029c0025t0006 a0048c0238t0005 a0063c0259t0005 a0070c0126t0005 a0075c0252t0005 a0076c0187t0002 a0078c0265t0006 a0085c0251t0005 a0093c0033t0005 a0104c0035t0007 a0108c0031t0006 a0112c0180t0005 a0123c0113t0005 a0124c0186t0005 a0136c0092t0005 a0137c0191t0005 a0139c0038t0002 a0140c0120t0002 a0142c0085t0006 a0144c0264t0007 a0148c0178t0006 a0149c0042t0006 a0152c0051t0006 a0154c0181t0006 a0157c0114t0007 a0158c0179t0002 a0163c0040t0005 a0165c0056t0006 a0173c0223t0005 a0175c0101t0002 a0176c0072t0006 a0195c0232t0007 a0198c0190t0006 a0199c0036t0002 a0229c0192t0007 a0243c0188t0005 a0252c0202t0005	a0008c0006t0005g0053 a0013c0116t0005g0134 a0016c0022t0005g0229 others(40): Show a0008c0006t0005g0053 a0013c0116t0005g0134 a0016c0022t0005g0229 a0016c0022t0005g0230 a0025c0185t0002g0168 a0029c0025t0006g0004 a0029c0025t0006g0005 a0048c0238t0005g0069 a0063c0259t0005g0117 a0070c0126t0005g0003 a0075c0252t0005g0175 a0076c0187t0002g0051 a0078c0265t0006g0165 a0085c0251t0005g0176 a0093c0033t0005g0294 a0104c0035t0007g0032 a0108c0031t0006g0285 a0112c0180t0005g0148 a0123c0113t0005g0014 a0124c0186t0005g0044 a0136c0092t0005g0228 a0137c0191t0005g0158 a0139c0038t0002g0030 a0140c0120t0002g0293 a0142c0085t0006g0040 a0144c0264t0007g0274 a0148c0178t0006g0028 a0149c0042t0006g0034 a0152c0051t0006g0235 a0154c0181t0006g0287 a0157c0114t0007g0167 a0158c0179t0002g0017 a0163c0040t0005g0038 a0165c0056t0006g0006 a0173c0223t0005g0275 a0175c0101t0002g0142 a0176c0072t0006g0009 a0195c0232t0007g0226 a0198c0190t0006g0159 a0199c0036t0002g0036 a0229c0192t0007g0026 a0243c0188t0005g0196 a0252c0202t0005g0143	43	308	0.1396	-465	c.995 others(19): Show c.9959-2836_9959-2372del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	66/66			chr16	TogoVar
MAN1B1_chr9_137081985_137114183	137102916	ATTCACGC others(458): Show ATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGC TTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGT GCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGT TACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATG CTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCG TGCAGGTCGGTGGTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGT GGTGTTACACACATTCATGGTGTTGCAGGCGTGCAGGTCGGTGTTACACA CATGCTGTTGCAGGCGTGCAGGTCGGTGGTACATTCATGCTGTTGCAGGC GTGCAGGTCGGTGGTGTTACACATTTTCACGCTGTTGCAGACGTGCAGGT CAGTGGTGTTACATTC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18978.hp2 NA19084.hp1 HG03225.hp2 NA18978.hp2 NA19084.hp1	a0006 a0016 a0006 a0016	a0006c0011 a0016c0028 a0006c0011 a0016c0028	a0006c0011t0002 a0016c0028t0002 a0006c0011t0002 a0016c0028t0002	a0006c0011t0002g0039 a0016c0028t0002g0129 a0006c0011t0002g0039 a0016c0028t0002g0129	3	404	0.0074	-465	c.125 others(19): Show c.1254+1245_1254+1709del	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12			chr9	TogoVar
MUC4_chr3_195741771_195816929	195776432	ATACCTTC others(458): Show ATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACACCCATACC TTCCGCATCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCG CACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCA CACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACGGCCATACCTTCCA CAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCC ATACCTTCCACACCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0047 a0080 a0047 a0080	a0047c0140 a0080c0141 a0047c0140 a0080c0141	a0047c0140t0005 a0080c0141t0002 a0047c0140t0005 a0080c0141t0002	a0047c0140t0005g0226 a0080c0141t0002g0219 a0047c0140t0005g0226 a0080c0141t0002g0219	2	242	0.0083	-465	c.129 others(21): Show c.12943+1406_12943+1870del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
PEX5L_chr3_179789958_180041937	179936551	TTCTGAGT others(458): Show TTCTGAGTAACTTAATTCTGCCCTGTTAACTTTCCAGATAAACCTTCAAT TTGTAAAGGAAGCTGAGTTCTGAAAAAATGAGGCCTTTGCTAGAAGGGCT GGACACAATTATGTGTAGGTACCCTAGAGACAAGGGACAGGGTGCCATGT ACCTCTCCAAGAGCCTAGTCACCAAGGAGAAGAGTCAAGCAGAGCAGGGA TTTATGGGGTTCTTGAGCCACCAGCCTTTCTCTGTTGAGCTCTCTTTAGC ATCACCTTGAAAAGCTTAACCCTTTACTCCATGGCTATCACCACTATCTT CAGCTCTGAGATTTAGTCTGGGCTTTCTGAAAAGAAAAGTAAGAGGAATA CATTTGACAGCTTACATGACAGCATGAGTAACCTTTGCTACTCGTTTATA TTCTAGGTATATAAAACTATTACTAAACTGAGTGAGGTTGGTGAATTATC TTGTACTAAAACAGAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(104): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18967.hp1 NA18979.hp2 NA18991.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0003t0002 a0001c0003t0023 a0001c0005t0001 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008	a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0061 others(104): Show a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0128 a0001c0001t0002g0192 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0040 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0121 a0001c0001t0003g0143 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0003g0214 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0189 a0001c0001t0004g0199 a0001c0001t0004g0216 a0001c0001t0005g0114 a0001c0001t0005g0188 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0006g0045 a0001c0001t0006g0094 a0001c0001t0006g0122 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0146 a0001c0001t0006g0173 a0001c0001t0006g0185 a0001c0001t0007g0015 a0001c0001t0007g0030 a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0093 a0001c0001t0007g0152 a0001c0001t0008g0049 a0001c0001t0008g0066 a0001c0001t0009g0087 a0001c0001t0009g0144 a0001c0001t0009g0155 a0001c0001t0010g0009 a0001c0001t0010g0041 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0011g0023 a0001c0001t0012g0200 a0001c0001t0014g0056 a0001c0001t0014g0064 a0001c0001t0015g0175 a0001c0001t0015g0176 a0001c0001t0015g0177 a0001c0001t0016g0108 a0001c0001t0019g0065 a0001c0001t0020g0171 a0001c0001t0020g0184 a0001c0001t0026g0112 a0001c0001t0027g0138 a0001c0001t0028g0117 a0001c0001t0030g0081 a0001c0001t0031g0109 a0001c0001t0034g0063 a0001c0001t0035g0178 a0001c0001t0036g0142 a0001c0001t0037g0033 a0001c0001t0039g0183 a0001c0001t0041g0196 a0001c0001t0043g0220 a0001c0003t0002g0053 a0001c0003t0023g0052 a0001c0003t0023g0054 a0001c0005t0001g0110 a0002c0002t0001g0050 a0002c0002t0005g0206 a0002c0002t0005g0207 a0002c0002t0005g0208 a0002c0002t0008g0179 a0002c0002t0008g0180	107	218	0.4908	-465	c.93+ others(17): Show c.93+34578_93+35042del	PEX5L	ENSG00000114757.19	transcript	ENST00000467460.6	protein_coding	2/14			chr3	TogoVar
POLK_chr5_75506891_75614991	75526512	ATGGTATT others(458): Show ATGGTATTTTAAGAGGATGATTTAAACAGAGATAAACTTCTGATTTAATG GGTTTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTGGAGACAGAGTCT CGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCTCAATCTTGGCTCACTGCA ACCTCCACCTACCAGGTTCAATTGATTCTCGTGCCTTAGCCTCCTGAGTA GCTGGGATTACAGACGTGCACCACCACAACCGGCTAATTTTTGTATTTTT AGTAGAGACGTATTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGC CTCAAGTAATCCACCTGCCTCAGCCTACCAAAGTGTTGGGGATATGGGCA TGAGCCACTGCACCTGGCCTAATGTGAATATTTTAAAACCTAAAACCATT TATTTTCTTTTGAAGTAAAAGGTAGAGGTATCTAAAGTAGATAAAGAGAG TCAGCTAGGTATGTGG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	354	0.0028	-465	c.-14 others(19): Show c.-14+14599_-14+15063del	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	1/14			chr5	TogoVar
PRR20A_chr13_57135918_57148939	57146544	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00621.hp1 others(55): Show HG00280.hp2 HG00323.hp2 HG00621.hp1 HG00639.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18965.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp2 NA19057.hp1 NA19074.hp1 NA19077.hp1 NA19083.hp2 NA19084.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0028 a0001c0001t0040 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0042 a0001c0002t0043 a0001c0010t0002 a0004c0005t0011 a0004c0005t0014	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0001 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0003g0001 a0001c0001t0007g0004 a0001c0001t0028g0001 a0001c0001t0040g0001 a0001c0001t0041g0001 a0001c0002t0001g0001 a0001c0002t0002g0001 a0001c0002t0002g0012 a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0042g0032 a0001c0002t0043g0001 a0001c0010t0002g0001 a0004c0005t0011g0001 a0004c0005t0014g0001	58	330	0.1758	-465	c.35 others(11): Show c.3554_*4018del	PRR20A	ENSG00000204919.1	transcript	ENST00000377931.1	protein_coding		2606		chr13	TogoVar
PRR20B_chr13_57142488_57155509	57146544	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG01169.hp1 others(24): Show HG00323.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02630.hp1 HG02976.hp2 HG03490.hp1 HG03831.hp1 HG03831.hp2 NA18939.hp2 NA18952.hp1 NA18967.hp1 NA18998.hp2 NA19057.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0005c0012 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0032 a0001c0001t0033 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0003c0004t0008 a0005c0012t0004 a0006c0011t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0009 others(11): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0003g0001 a0001c0001t0007g0001 a0001c0001t0032g0001 a0001c0001t0033g0001 a0001c0003t0002g0001 a0001c0003t0003g0006 a0001c0003t0003g0008 a0001c0003t0007g0001 a0003c0004t0008g0028 a0005c0012t0004g0012 a0006c0011t0002g0001	27	168	0.1607	-465	c.-11 others(10): Show c.-1176_-712del	PRR20B	ENSG00000204918.3	transcript	ENST00000377930.1	protein_coding		943		chr13	TogoVar
PRR20B_chr13_57142488_57155509	57153117	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01346.hp2 HG01358.hp1 others(6): Show HG00609.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp1 HG02602.hp1 HG02630.hp1 HG03017.hp1 HG03490.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0032 a0001c0003t0003	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0003g0001 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0003g0001 a0001c0001t0018g0001 a0001c0001t0032g0001 a0001c0003t0003g0006	9	167	0.0539	-465	c.35 others(11): Show c.3557_*4021del	PRR20B	ENSG00000204918.3	transcript	ENST00000377930.1	protein_coding		2609		chr13	TogoVar
PRR20C_chr13_57149061_57162082	57153117	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01346.hp1 HG01358.hp1 others(11): Show HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG02273.hp2 HG02698.hp1 HG03017.hp1 HG03831.hp2 NA18747.hp1 NA18950.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	14	138	0.1014	-465	c.-11 others(10): Show c.-1176_-712del	PRR20C	ENSG00000229665.8	transcript	ENST00000544357.2	protein_coding		943		chr13	TogoVar
PRR20C_chr13_57149061_57162082	57159688	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01167.hp1 HG01169.hp1 others(17): Show HG00423.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01952.hp1 HG02148.hp1 HG02273.hp2 HG02698.hp1 HG03017.hp1 HG03831.hp1 HG03831.hp2 NA18747.hp1 NA18952.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	20	138	0.1449	-465	c.35 others(11): Show c.3555_*4019del	PRR20C	ENSG00000229665.8	transcript	ENST00000544357.2	protein_coding		2607		chr13	TogoVar
PRR20D_chr13_57155632_57168653	57159688	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01257.hp1 others(18): Show HG00423.hp2 HG00438.hp1 HG01257.hp1 HG01496.hp1 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp2 HG02572.hp1 HG03017.hp2 HG03491.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18951.hp2 NA18953.hp2 NA18967.hp1 NA18969.hp1 NA19057.hp2 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0008g0002 a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0007t0001g0002	21	146	0.1438	-465	c.-11 others(10): Show c.-1176_-712del	PRR20D	ENSG00000227151.4	transcript	ENST00000452123.3	protein_coding		943		chr13	TogoVar
PRR20D_chr13_57155632_57168653	57166253	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01928.hp1 others(11): Show HG00423.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02040.hp1 HG02148.hp1 HG03017.hp2 HG03491.hp1 HG04204.hp1 HG04204.hp2 NA18951.hp1 NA19057.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0008g0002 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0008g0002 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0018 a0001c0007t0001g0002	14	146	0.0959	-465	c.35 others(11): Show c.3549_*4013del	PRR20D	ENSG00000227151.4	transcript	ENST00000452123.3	protein_coding		2601		chr13	TogoVar
PRR20E_chr13_57162197_57175218	57166253	CCATCGCG others(458): Show CCATCGCGCTGAGCTCGACTCTTTTTACAAAAGGCCACTTGACATCCTCA CTTGGCAGTTCAAAAGCCCCTTCAACCAGATGTGCGCAAGCCAAGCTCCG CAACTTCCCGTTCAGAGCAGGTTCTCGGTCCACCTCTGCCTGAATGAACC GGCGGGCTACCAAGGCCGCAGTCTCTTCCTCAAGGGCTGTCCACACTGGG TCTCGCTTTCTCTTGGAAATTTCTCTCCCACCAGGGAACTTTCTCCTCCT CTACCTCCCTGAGTCTCAGTCTAACAGCACCCTGCGCCCAACCCCGAGGG CTGCAATAGCCTTCTTGCCTCTCCTGACTTATTCTGCGGACCCTGGGTTG GCGCTCCTTCACAGCCAGGCTGGTCGTTTCTGAAATGTTAACCCGCTGCC GGACACCGTTCCACGGTTTTCCGCTGCCTTGGAACAAGACCAGCTCCTGC GCGGACCCTGCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp1 HG01123.hp2 others(16): Show HG00423.hp1 HG01123.hp1 HG01123.hp2 HG01358.hp1 HG01496.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02698.hp1 HG03491.hp2 HG04204.hp1 NA18971.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0006c0009t0001	a0001c0001t0001g0007 a0001c0002t0001g0007 a0001c0002t0001g0009 others(3): Show a0001c0001t0001g0007 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0015g0007 a0006c0009t0001g0007	19	258	0.0736	-465	c.-11 others(10): Show c.-1176_-712del	PRR20E	ENSG00000234278.3	transcript	ENST00000434815.1	protein_coding		943		chr13	TogoVar
RIPK1_chr6_3063494_3120187	3090794	CGCCTACC others(458): Show CGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCTA GTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCA GAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0051 a0001c0002t0025g0051	1	338	0.0030	-465	c.915 others(17): Show c.915+1138_915+1602del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10			chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090795	GCCTACCT others(458): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCTAG TAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	326	0.0031	-465	c.915 others(17): Show c.915+1169_915+1633del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(458): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	231	0.0043	-465	c.915 others(17): Show c.915+1414_915+1878del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(458): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01099.hp1 others(7): Show HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01993.hp1 HG02074.hp1 HG02293.hp2 HG03654.hp1 NA18990.hp1 NA19081.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0181 others(7): Show a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0181 a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0001t0002g0150 a0001c0001t0005g0143 a0001c0001t0005g0174 a0001c0001t0005g0266 a0001c0001t0018g0288	10	235	0.0426	-465	c.915 others(17): Show c.915+2995_915+3459del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092652	AGCGCCTA others(458): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02886.hp2 HG01192.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0236 a0001c0001t0001g0041 a0001c0001t0001g0236	2	252	0.0079	-465	c.915 others(17): Show c.915+3026_915+3490del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092891	TAACCGCA others(458): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAG AGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACC TAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	301	0.0033	-465	c.915 others(17): Show c.915+3243_915+3707del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092900	CGCGCCTA others(458): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	326	0.0031	-465	c.915 others(17): Show c.915+3274_915+3738del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092953	TAACCGCA others(458): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTG CCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	303	0.0033	-465	c.915 others(17): Show c.915+3305_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093117	CGCGCCTA others(458): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02145.hp1 others(12): Show HG00639.hp1 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02647.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0122 a0001c0001t0003g0012 a0001c0001t0003g0065 others(12): Show a0001c0001t0001g0122 a0001c0001t0003g0012 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0234 a0001c0001t0003g0312 a0001c0001t0006g0034 a0001c0001t0006g0063 a0001c0001t0006g0066 a0001c0001t0006g0102 a0001c0001t0006g0130 a0001c0001t0014g0025 a0001c0001t0014g0040	15	328	0.0457	-465	c.915 others(17): Show c.915+3553_915+4017del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SHOX_chrX_625791_656584	643527	TGTCTCGG others(458): Show TGTCTCGGGAGTGCCTTGGGGACCTAGTGACCCGGGAGAGGCTTGGGGAC CTGGTGTCCCGGGAGAGGCTTGGGGACCTGGTGTCCTGGGAGAGCCTTGG GGATCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGA GCCTTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGG GAGAGGCTTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGACCTGGTGTC CTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCCTTGGGGACC TGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAGAGGCTTGGG AGCCTGGTGTCCCGGGAGAGCCTTGGGGACCAGGTGACCTTGGAGAGGCT TGGGGACCTGGTGATCTTGGAGAGGCTTGGGGACCTGGTGTCTCGGGAGA GCCTTGGTGACCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02559.hp2 others(5): Show HG01884.hp1 HG01884.hp2 HG02559.hp2 HG02615.hp2 HG03041.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 others(5): Show a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0144	a0001c0001t0052g0090 a0001c0001t0055g0146 a0001c0001t0056g0088 others(5): Show a0001c0001t0052g0090 a0001c0001t0055g0146 a0001c0001t0056g0088 a0001c0001t0057g0006 a0001c0001t0058g0015 a0001c0001t0059g0087 a0001c0001t0060g0006 a0001c0001t0144g0148	8	218	0.0367	-465	c.634 others(15): Show c.634-862_634-398del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar

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