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
EPN2_chr17_19232366_19341715	19294577	AGGTTTCT others(1025): Show AGGTTTCTCGATGCTTTAAGGTTGAGTTTAGCAACAGTATGATACATAGT TGTTAGTTTTTGTTTAGTGATACAAGGCAGTTCCTCATTTTGACAGTTGC CTTTTCTTTTTTCCCTAAATCACTAGCTCTCAAGCTTTTAAATCTCCCAA AATGTCCCAAATCCTGGGCCACACCTTTGCCACACTTCTCAAATGAGAAT CTCTGGGAGGGCCCCAGGTACTGCGGTGGCACTGACAGCATTGTACTGGG GGCTGCTGGTTCCCTGTCAGATGTTTTAAGTCAGATTGGCTAGCATAGTC ACAGCTGCTGACGGTGTCTTTATTCATGGATGCTCAGTACAGCAGTTGCT AGTTTCAAATAGACAACTTCCAGGAGGCATTAAAAAAAAATTATATGACT AGAAACAGGAGGGAAGGCATGCAGATAGATTTGTCTTCCCATGGGAAGTA GGCCATATAAGTTAAATCTCTCTCTGTATCATATCCTTTTTTACTATCTT CAGAGTCTTTTTCACTACCTGAAATTCTCTTATTTGCTTTGTTTTGTCTC CCTGCACTAAAACAAGCTGTTAGAGCAGGAGCCCCGTTCATGCCCCGTGC TGTATCCCTAGTGTCTTTAGCACAACACCTGAACCAGGAAAGGTGCTCAG AACATACTTCATGCATGAGTGCTAAATAAGCCTCTCTTCTCCTCTCTCCT CACCTGAGGGCAGGAGTTCGAGACTAGCCTTGCCAACGCAGTGAAACCCC ATCTCTATTAAAAATACACACACACACACACACACACACACGCGCGTGCG CGCAAAATAGCCAGGTGTAGTGGTGCATGCCTGTAGTCCCAGCTACCTGG GAGGCTGAGGCAGGAGAATCACTTTAACCCAGGAAGTGGAGGTTGCAGTG AGCCGAGATCGTGCCATTAGACTCCAGCCTGGGTGACAAGAGTGAAACTC CCTCTCAGAAAAAAAAGAAAAGAAAAGAAAAAATACATTTGAAGTCAATT CCAGAAATATAGGAATGCCTTATATATTTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	280	0.0036	-1032	c.766 others(17): Show c.766+8830_766+9861del	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806535	CTCCCCCC others(1025): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	276	0.0036	-1032	c.23 others(11): Show c.2370_*3401del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2249		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806535	CTCCCCCC others(1025): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCC TCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18977.hp2 NA18522.hp2 NA18977.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0017 a0001c0004 a0004c0017	a0001c0004t0001 a0004c0017t0003 a0001c0004t0001 a0004c0017t0003	a0001c0004t0001g0012 a0004c0017t0003g0089 a0001c0004t0001g0012 a0004c0017t0003g0089	2	289	0.0069	-1032	c.-27 others(11): Show c.-2742_-1711del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2657		chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288538	TCTGCTCC others(1025): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTT CCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCT CCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0176 a0001c0020t0001g0176	1	266	0.0038	-1032	c.166 others(17): Show c.1662+514_1663-689del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4041632	ACTGGTCC others(1025): Show ACTGGTCCTTTTGCTGTCTCCATAGTTTGACCTTTTCCAAAATGTCATAT GTAGTTGGAATCACACAACACATGGCTTTTCCAGAATGACATCTTTCACT GAGGAATGTTTAATGCATGCGTGTCGTGAAAACACAGCATATATATAGTG AAAACAGCATGAAATGTAACTTCAACAGCTGCAATTTTTTTTTTCTTTTT TGTGACGGAGTCTCGCTCCCTTGCCAGGCTGGAGTGCAGTGGTGAGATCT CGGCTCACTGCAACCTCCGCCTCCCAGGTTCGAGCAATACTCCTGCCTCA TCCTCCTGAGTAGCTGGGACTACAGGCCCGCGCCACCACGCCCAGCTAAT TTTTGTGTTTTTAGTAGAGGTGGGGTTTCATCATGTTGGCCCGGATGGTC TCTATCTCTTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAACCACCGTGCCCGGCCAACAGTTGCAAATGTTTGAA TGGCTGTAAACGGTGGTTTATGGCTACAAAAACTAACAGATATCCCTGTC TCTGGGTCCCTGTGTAACCTATCCGAGGCACAGTGAGAGACCACTGCACT GTCCCACCTCCTTCTTCCCCATCCACTCCCAGAAATCCTCTCTTCAGGTA GGAGAAACTGCTACTCTCTGATCCAGGTTTCACATATTTCCGTGGGATAT AAAACCCCTAGTGCCTGAAACTGCTCTTCTGGTTTCTCCTTTCACCTGTG ATTATTCCCTGAGTGTCGGGGGCTTCAGGACAGAAGACTTTGTCATTGGC TGTGAGCATCAAGACAGTGTCCAATGGGTTTAGGCTGAGAGCCAGCTCAG CCAGGTGCCTGCGTGGGGGGAATTATCCAGTGAAAAGATATTTGTCTGCT CAGTGAAAACCAGAAAGGAGCATAACACCTGTCACGTTACCAGCCTGCCT CCAGGCCTGCCATTGGAGGCACAGCAAGGGTCTAATGCTAATCATCCGGG GAGGAAGTGTCCCTTGAGGCTTAGTCTGAGCAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00738.hp2 others(34): Show HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0009 others(12): Show a0001 a0002 a0009 a0010 a0011 a0013 a0014 a0015 a0019 a0020 a0021 a0022 a0028 a0031 a0032	a0001c0007 a0001c0011 a0001c0025 others(31): Show a0001c0007 a0001c0011 a0001c0025 a0001c0026 a0001c0027 a0001c0031 a0001c0046 a0001c0067 a0001c0071 a0001c0072 a0001c0087 a0002c0009 a0002c0012 a0002c0013 a0002c0041 a0002c0043 a0002c0053 a0002c0054 a0002c0066 a0009c0019 a0009c0020 a0010c0079 a0010c0082 a0011c0022 a0013c0070 a0014c0085 a0015c0074 a0019c0050 a0020c0063 a0021c0068 a0022c0094 a0028c0018 a0031c0069 a0032c0075	a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 others(33): Show a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0031t0001 a0001c0046t0022 a0001c0067t0068 a0001c0071t0057 a0001c0072t0065 a0001c0087t0009 a0002c0009t0004 a0002c0009t0056 a0002c0012t0016 a0002c0013t0064 a0002c0041t0007 a0002c0043t0035 a0002c0053t0067 a0002c0054t0002 a0002c0066t0023 a0009c0019t0074 a0009c0020t0070 a0010c0079t0054 a0010c0082t0001 a0011c0022t0072 a0013c0070t0026 a0014c0085t0043 a0015c0074t0042 a0019c0050t0019 a0020c0063t0007 a0021c0068t0014 a0022c0094t0025 a0028c0018t0071 a0031c0069t0069 a0032c0075t0008	a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 others(34): Show a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0031t0001g0018 a0001c0046t0022g0091 a0001c0067t0068g0001 a0001c0071t0057g0031 a0001c0072t0065g0027 a0001c0087t0009g0054 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0064g0023 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0066t0023g0088 a0009c0019t0074g0006 a0009c0020t0070g0009 a0010c0079t0054g0071 a0010c0082t0001g0076 a0011c0022t0072g0008 a0013c0070t0026g0112 a0014c0085t0043g0010 a0015c0074t0042g0081 a0019c0050t0019g0092 a0020c0063t0007g0106 a0021c0068t0014g0014 a0022c0094t0025g0049 a0028c0018t0071g0005 a0031c0069t0069g0064 a0032c0075t0008g0015	37	116	0.3190	-1032	c.260 others(19): Show c.2603-7714_2603-6683del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC35E2B_chr1_1656478_1697795	1693977	CAAAAGAA others(1025): Show CAAAAGAAAAAAGAAAAGATTACTTTTGGCCGGGCGAGGTGGCTCACGTC TGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGCGGATCGCCTGAGGTCA GGAGTTCGAGACCAGCCTGGCCAACATAGTGAACCCCCCCCCATCTCTAC TAAAAATACAAAAAAAAATTACCCGGGTCTCGTGGCGCGTGCCTGTGGTC CCCGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCTTGGAGTTG AAGGTTGCAGTGAGGCGAGATAGCGCCGCTGCTCTCCGACCTGGGCGACA GTGGGAGACTTCATCTCATAAATAAATAAATAAATAAATATTACTTTTAC GTTTTGTTAAACTTCCACTTGTTTTTGTTTCCGTTGCATGAACCTTCGTA AAGCTTCAGGAGGCTGATGGCAGCCTCCTTCCCCAGGCTTCCCCGTGGCG CCCGCAGCCGGGTTGGGCCAGAGGCTGGGACTGTTTCCTCCCGTGGGGTC TTTGGTGGGGATGTCCCCAGAGGAGTGGGGCAGGAGGAGGGGCACGGAGC GCCCCCGGGAGCCGGTCAGAGCGCAGCGATGGTGTCTGTGGTTCCAACCA CTCGGGAGGCTGAGGTGGGAGGATGGCTTGAGCCTGGGAGCTTGAGGCTG CAGTGAGCTAGAATCACAGCACCACACTCCAGCCTGGGCGACAGAGTGAG ACCCTTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGG CTGGGTGCGTTGGCTCGCGCCTGTAATCCCAGCACTTTGGGTGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATG AAACCCCGTCTCTACAAAAAATACGAAAAAAAATTAGCCGGGCATGGTGG CACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACT TGAACTCAGGAGGCAGAGCTTGCAGTGAGCCAAGATTGGGCCACTGCACT CCAGCCTGGCGACAGAGTGAGACTCCGTCAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0071 a0002c0002t0071	a0002c0002t0071g0163 a0002c0002t0071g0163	1	346	0.0029	-1032	c.-31 others(11): Show c.-3126_-2095del	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding		1183		chr1	TogoVar
ACACA_chr17_37079992_37411836	37380859	CTGCTGGG others(1024): Show CTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGTTTTTTTTTT TTTTAATTTCATTTTGCATGCACACAGTAAAATATTCAAACAGTATAGAT TTATAGTGAAAAGTAAGTCTCTCTCCTACTCCTGTCTCTCAATTCTCCAG TTCTCTATCCCTGATGGAACCACTATTATCAACTTATTATATTTCCTTCC GGAGATACTCTAAGAATGTATGAATGTGCATATTTTAAAAACATAAATGG TAACATACCATATACACTGTTCTGCCCCTTGCTTTTGCTTGTTTTTGTTT TTTGTTGTTATTGTTATTTTGTTGTTGTTGTTGTTGTTTTCTTTGGAGAT GGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCGCGATCTCGTCT CACTGCAACCTCCTCCTCCCAGGTTCACGTGATTCTCCTGTCTCAGCTTT CCAATTAGCTGGGATTACAGGTGCCCACCACCACACCCAGTGAATTTCTG TATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTAGTGTTGAA CTCCTGACTTCAAGTGTTTCACCCACCTCAGCCTCCCAAAGTGCTAGGAT TACAAGCGTTAGCCACTGCGCCTGGCCAATCCCTTGCTTTTCCATTTAAT AATATATCTTATAGGTCGTTCCATTTCAATACGTATATATTTACCCCATA CTTTTTTATATTTGCCTCATTCTTTTTAACAGTTTTACATTATTCCATAG TATGTCTCTTCCATAGTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCCGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACTCGCCACCACACCCAGTTAATTTTTTGTATTTTT GGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCGCCTGA CCTTGTGATCTGCCCGCCTTGGCCTCCCAAAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	298	0.0034	-1031	c.38+ others(17): Show c.38+24372_38+25402del	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
C17orf78_chr17_37370985_37397708	37380859	CTGCTGGG others(1024): Show CTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGGTTTTTTTTTT TTTTAATTTCATTTTGCATGCACACAGTAAAATATTCAAACAGTATAGAT TTATAGTGAAAAGTAAGTCTCTCTCCTACTCCTGTCTCTCAATTCTCCAG TTCTCTATCCCTGATGGAACCACTATTATCAACTTATTATATTTCCTTCC GGAGATACTCTAAGAATGTATGAATGTGCATATTTTAAAAACATAAATGG TAACATACCATATACACTGTTCTGCCCCTTGCTTTTGCTTGTTTTTGTTT TTTGTTGTTATTGTTATTTTGTTGTTGTTGTTGTTGTTTTCTTTGGAGAT GGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCGCGATCTCGTCT CACTGCAACCTCCTCCTCCCAGGTTCACGTGATTCTCCTGTCTCAGCTTT CCAATTAGCTGGGATTACAGGTGCCCACCACCACACCCAGTGAATTTCTG TATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTAGTGTTGAA CTCCTGACTTCAAGTGTTTCACCCACCTCAGCCTCCCAAAGTGCTAGGAT TACAAGCGTTAGCCACTGCGCCTGGCCAATCCCTTGCTTTTCCATTTAAT AATATATCTTATAGGTCGTTCCATTTCAATACGTATATATTTACCCCATA CTTTTTTATATTTGCCTCATTCTTTTTAACAGTTTTACATTATTCCATAG TATGTCTCTTCCATAGTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCCGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACTCGCCACCACACCCAGTTAATTTTTTGTATTTTT GGTAGAGATGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCGCCTGA CCTTGTGATCTGCCCGCCTTGGCCTCCCAAAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	440	0.0023	-1031	c.391 others(17): Show c.391+1503_391+2533del	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DLGAP2_chr8_732628_1713476	1015387	AGACGACG others(1024): Show AGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACG ACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGAT GCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGG ACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCAC TGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAG ACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGA CGATGCCTCCACTGTGTGTGACCAGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	37	0.0270	-1031	c.73+ others(19): Show c.73+107426_73+108456del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33103273	CCTGTCAG others(1024): Show CCTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCCCTGTGACCTG CATGTATACGCCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGT GAAAATGGCCTGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAG TGGAAATGGCCTGTTCCTGCCTTAACTGATGACATTACCTTGTGAAATTC CTTCTCCTGGCTCATCCTGGCTCAAAAAGCTCCCCCACTGAGCACCTTGT GACCCCCACTCCTGCCCACCAGAGAACAACCCCTCTTTGTAATTTTCCTT TACCTACCGAAAGCTTATAAAACGGCCCCACCCCTATCTCCCTTCCCTGA CTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGATTAAAAAGCTTTA TTGCTCACACAAAGCCTGTTTGGTGGTCTCTTCACACGGACGCGACTGAA ATGACCCATTAGAAAAGCATACTTACTTATGTCTTGCATTTTTTGAGCTA TAATTTTTAAAAAATGTAAACTCAGAAATGTATGGAATCACTAAAAAAAT TATAGAAAATGGGATCTCACAGTTATGTCTTTGTAACTCATGCACATTAA AAGCAATCCCAAATAAAAATAATGATAAATCTAGCATAATAAATCATTAT TTCTTTAAATATATTTTTCCTAAGAACAGAACGATAACTCAAATTTAAGT GTTCCAAACTGATAAGTCCTCAGGGGAACACTAAAAGTGAGAGTAATTTA AAAGTAGAATATCAGTAGATTTTAGCAAAAGAAAAATTGATAGTGCTCAT TAGGAATTTATATAATTTATTGAATCATAATTACACTATTGATTTACATA ACAGACTCCTTTCACAGGTAAACTTTCTCCTAGAGTTTTGTCATATTTTA CAAATTCTAAATGAGTTAGCCCACTTAAATGTTTGTTTCTTAAAATTTTC TAGCACAGAAAAATATGTTAATAACGTTTTAAAATAATAATGTAGTGTGT TTCTTTTGAATAAAGAGACTATCATGTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0036 a0008c0011t0001g0036	1	126	0.0079	-1031	c.32- others(17): Show c.32-84104_32-83074del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	127260828	CATGGGTG others(1024): Show CATGGGTGTGCGTGTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGTG TGTGTGTGTACCCGTGCTCATCTGTGTACCTGCACGTGTGTGCATGTGGG TGTGTGTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTG TGTGTACCCGTGCTCATGTGTGTGTACCTGCATGTGTGTGCATGTGGGTG TCTGTATGTGTGTACCCGTGCTCATGTGTGTGTGCATGTGGGTGTGTGTG TACCTGTGCTCATCTGTGTGTGTACCTGCATGTGTGTGCATGTGTGTGTG CCTGCATGTGTGTGCGTGTGTACCCGTGCTCATCTGTGTGTGTCCCTGCA TGTGTGTGCATGCGGGTGTGTGTGTGTACCTGCATGTGTGTGCATGTGGG TGTGCGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTGTGTGTGTGCC TGCATGTGTGTGCATGTGGGTGTGTGTGTGTGTGCCTGCATGTGTGTGCA TGTGGGTGTGCGTGTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGGG TGTGTGTGTACCTGCATGTGTGTGCATGTGGGTGTGTGTGTACCCATGCT CATCTGTGTGTGTACCTGCATGTGTGTGCGTGTGTGTGTGCCTGCATGTA CCCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTGTACCTGCATGTG TGTGCATGTGGGTGTGTGTGTACCCGTGCTCATCTGTGTGTGTACCTGCA TGTGTGTGCATGTGGGTGTGTGCCTGCATGTACCCGTGCTCATCTGTGTG TGTGCATGTGTACCTGCATGTGTGTGCATGTGGGTGTGTGTGTACCTGCA TGTGTGTGCATGTGGGTGTGCGTGTACCTGCATGTGTGTGCATGTGGGTG TGCGTGTGTGTACCCGTGCTCATCTGTGTGTGTGCATGTGGGTGTGTGTG TGTGTACCTGCATGTGTGTGCATGTGGGTGTGGGTGTGTACCTGCATTGT GTGCATGTGGGTGTGCGTGTGTGTACCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0033 a0004c0020t0003g0033	1	134	0.0075	-1031	c.304 others(19): Show c.3044+3400_3044+4430del	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	29/51			chr10	TogoVar
HTR1F_chr3_87787706_87998839	87866586	TGCTAGTT others(1024): Show TGCTAGTTTGATTACACTTTCCACTATATTGTTTCTTGTAGCCAATTTTT CTCTCATACTTGCAAAAAAGAAACCCCAAACTGAAAGACTTCAAGTGCAT TTCCTGCAAAATTGGATGTTTGTTTTCTTACAGTTATTGACTACAGTTTC TCTTAACGTAGTGATTTCTAATGAGCAGGAAAATTGTTCGGGTTAGAATT TATTAGAGGTGTACATGGGCACAAGTGTGCGTGCGTGTGTGTGTGTGTGT GTGTGTGTGTGCGTGTGTGTGTTCAGGGAGCAGTTGTTAAGGTGGAAGAA AAGGTGTGTAGTACCACTTTTTTACATTTCTTTATGGTCTCCCCTGAGCA GTATTTCTATTAAAAACATCAGTTTGAACCTGAAGTAATAGCCAGCTTAG ATAATTAAGTTTATAAACAAAATACTGATGCAATATGATGGTTGCAGAAA ATTGAACTGATTTATGAGAAGTATTACAGAATTTAAAAAATTAATACTAG CTTGTAATGTGTCAAAGTATTTTTTCAAACACCAAGCCATGAAATCTTCC AGAACACGGTAGGAAATTCCCTCTTCAAACTCATTCCTTCCTAGGGCAGC ACATTTGCACTTTTTGTGTGAGTCAGTGGTGTTGGCTTCAAATTCTTTGG CATTTTCACCCTTGATAAGAATGCAGTAGTAATAACAGCAAGTTCTTACA GAACATAGAGGCATCAAACTTTTAAATCTCTCATTGTACATCGAAATGTT CTATCTTACCTTTCTCTTTTTGTCTCTCTCTCTCTCTCTCATATATTTTC TCTTTTTTTCACACACCCAAGCAGATCTCTTCAGAAGAGTTAAAATGGGG GGAAAAAACAAGACTCAATTTTTATTCGCTCAAGCATGGGACAAAAACTT TTAAGTGGCAAAAATTGAACATTTATTCCAAAATATCAAAGTAAAATAAA TACTCCAGGAAAATGAGTTATATATTTTATCTCTGAGTGACCTCCCCCAG AAAATCAATGTATATATGTGCAAGATGTATGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	248	0.0040	-1031	c.-43 others(19): Show c.-43+44463_-43+45493del	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2			chr3	TogoVar
LARS2_chr3_45383576_45554407	45455273	CTATTTGT others(1024): Show CTATTTGTTCTTGCAATCTGCAGTACCAAGTATTCACTTCTTCCAAATCC TCTGAGGTTTGCCGGGGACAAGAGACAGAGGTGGAGGGATATACGGTGCT CTTTTTCTACCTTTCTTTTATGTTTCATACAGTTTTAGTTGTGCATGGGT TGTCTGGAGTGGGGAGATGCCTCTTGAATGAACTGTCTACATTACTAAGC AGTACTTGGTCCTTTCTTTCTACCTGTTATTTTAAGTGGAACCCTTCCAG AACCTGTGTACACTGTGGGTAGAAATGTAAATTGCTATAGCCATTATGGA AAACAGTATGGAGGTTCCTCAGAAAATGAAAAATGGAACTACCATATGAT CCAGCAATCCCACTTCTGGGAGTATATCCAAAGGAACTGAAATCAGTGTG TTGGAGGGATATCTGTACACCCATGTTAACTGCAGTACTATTCACAGTAG CCAAGATATGGAATCAACCTAAGTGTCCATCAACAGACGAATGAATAAAG AAAATGTGGAGTATATACACAATGGAATAGTATTCAGCTTCAAAAAACAA TAAAATTCTGTCATTTGGGAATGACAGGGATGAATCTAGAAGACAGTGTG CTAAATGAAATAATCCAGGCACAGAAAGGCAAAAATCATGTGATCTCACT TACATGTGGAATCCTAAAAAACATTGAATTCATAGAAGTAGAGAGTAGAA TGATGGTTACCAGAGGCTGGAGGGGTAGGGGTGGAGCAAGGGAATGGGAA GTTACTGTCAGGAGTACAAAGTTTCAGCTAGACTGCAGGAATACATTTTG AGATCTACTGCACAGGAGGGTGACTCTAGTCAGTCATAATGTTTTGTATA TTTCGAGATAACTGAAAGAGTAAATTTATCACCACAAAAAATGTTAAGTA AGTGAGGTGATGGGTATTTTAATTGCTTAATTATTCTACATTGTGTACAT ATATCAAAATATCACACTGTATTCTATAAATACAGTTATGATTTGTCAAT TAATAATTGTTTTAAAAGAAATAATTAAGACT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG01361.hp2 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0241 a0001c0002t0001g0242	2	240	0.0083	-1031	c.607 others(17): Show c.607-3469_607-2439del	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	7/21			chr3	TogoVar
TAF4_chr20_61969798_62070881	62057664	CGGGGGGC others(1024): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTC AGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCG GGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACA CCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCA GGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAG GACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCC ACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGAC GGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAAC CTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACA GACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGA CACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCT CAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGA CAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACAC AGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGC AAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAAT GGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG CCTACACACCAGGCCACAGACAATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02735.hp2 HG03239.hp2 others(1): Show HG02683.hp2 HG02735.hp2 HG03239.hp2 HG03831.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0195 a0001c0010t0001g0196 a0001c0010t0001g0197 others(1): Show a0001c0010t0001g0195 a0001c0010t0001g0196 a0001c0010t0001g0197 a0001c0010t0001g0198	4	232	0.0172	-1031	c.136 others(19): Show c.1360+5756_1360+6786del	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
HSD17B14_chr19_48808018_48841491	48834487	CTGAGGTC others(1023): Show CTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTG GGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCC TGGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAG CCTGGACCCCTGGGTCTGAAGGAGGAGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02523.hp2 HG02015.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	392	0.0051	-1030	c.127 others(15): Show c.127+288_128-130del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834487	CTGAGGTC others(1023): Show CTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAG GAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTG GGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTC CTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGG AGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCC TGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAG GGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCC TGGGTCTGAGAAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGTGCCAGAGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGGGAG CCTGGACCCCTGGGTCTGAAGGAGGAGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG02015.hp1 HG02523.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0218 a0001c0008t0001g0018 a0001c0008t0001g0218	2	298	0.0067	-1030	c.17 others(11): Show c.1772_*2801del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2609		chr19	TogoVar
IRS2_chr13_109747695_109791583	109765495	AACTCCCC others(1022): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCA ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGATCCAA CTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAAC TCCCCACCAAGCATGTAGATATCCCAGCCTCCTCCACCTTGGCTCCAACT CCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTCCTC CCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCC CCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCC CACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCC ACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCTCCTCCCCA CCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCAC CAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACC AAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCA AGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCGACTCCCCACCAA GCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAAC ATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCA TGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAGCAT GTAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATG TAGATATCCCAGCCTCAACCACCCTGACTCCGACTCCCCACCAAGCATGT AGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGCATGTA GATATCCCAGCCTCATCCACCCTGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(112): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0015 a0001c0029 a0002c0002 a0003c0008 a0003c0012 a0006c0017 a0008c0020	a0001c0001t0002 a0001c0001t0016 a0001c0001t0033 others(25): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0033 a0001c0001t0034 a0001c0003t0002 a0001c0003t0004 a0001c0003t0035 a0001c0003t0049 a0001c0004t0002 a0001c0004t0016 a0001c0004t0020 a0001c0004t0022 a0001c0004t0027 a0001c0004t0036 a0001c0004t0037 a0001c0004t0038 a0001c0005t0002 a0001c0015t0002 a0001c0029t0004 a0002c0002t0001 a0002c0002t0002 a0003c0008t0002 a0003c0008t0004 a0003c0008t0032 a0003c0012t0002 a0003c0012t0031 a0006c0017t0022 a0008c0020t0002	a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 others(92): Show a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0016g0022 a0001c0001t0033g0126 a0001c0001t0034g0067 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0031 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0134 a0001c0003t0002g0136 a0001c0003t0002g0140 a0001c0003t0002g0143 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0156 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0138 a0001c0003t0004g0139 a0001c0003t0004g0141 a0001c0003t0004g0142 a0001c0003t0004g0144 a0001c0003t0004g0155 a0001c0003t0035g0137 a0001c0003t0049g0292 a0001c0004t0002g0017 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0241 a0001c0004t0002g0244 a0001c0004t0002g0249 a0001c0004t0002g0254 a0001c0004t0002g0255 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0259 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0264 a0001c0004t0002g0266 a0001c0004t0002g0268 a0001c0004t0002g0270 a0001c0004t0002g0271 a0001c0004t0002g0273 a0001c0004t0016g0251 a0001c0004t0020g0286 a0001c0004t0020g0287 a0001c0004t0020g0289 a0001c0004t0022g0269 a0001c0004t0027g0290 a0001c0004t0027g0291 a0001c0004t0036g0260 a0001c0004t0037g0275 a0001c0004t0038g0276 a0001c0005t0002g0038 a0001c0005t0002g0176 a0001c0015t0002g0049 a0001c0029t0004g0285 a0002c0002t0001g0001 a0002c0002t0002g0196 a0002c0002t0002g0197 a0003c0008t0002g0129 a0003c0008t0002g0130 a0003c0008t0002g0132 a0003c0008t0002g0133 a0003c0008t0004g0128 a0003c0008t0032g0131 a0003c0012t0002g0238 a0003c0012t0031g0237 a0006c0017t0022g0165 a0008c0020t0002g0168	115	281	0.4093	-1029	c.401 others(20): Show c.4013-10216_4013-9188del	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
SLURP2_chr8_142759338_142774828	142759925	GTCACGCA others(1022): Show GTCACGCACCATCCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTC TCACGCACCATACAATCCACCCGTTTACAGTGGCTAATTCAGTGGTTTCT CACGCAGCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTC ACGTACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCA CGCAGCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCAC GTACCATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTTTCACG CACCATACAATCCACCCATTTACAGTGGGTAACTCAGTGGTTTGTCACGC ACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTGTCACGCA CCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTCACGTAC CATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCACGCAGC ATACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCAGCA TACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCAT CCAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCACCATC CAATCCACCCGTTTACAGTGGTTAATTCAGTGGTTTGTCACGCACCATCC AATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACA ATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCACGCAGCATACAA TCCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAAT CCACCCGTTTACAGTGGCTAATTCAGTGGTTTCTCACGCACCATACAATC CACCCGTTTACAGTGGGTAATTCAGTGGTTTGTCATGCAGCATACAATCC ACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATACAATCCA CCCGTTTACAGTGGGTAATTCAGTGGTTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	-1029	c.36 others(11): Show c.3651_*4679del	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		4412		chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393204	GGGGAAGG others(1022): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG CAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03540.hp2 HG02683.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0017 a0001c0001 a0004c0017	a0001c0001t0054 a0004c0017t0060 a0001c0001t0054 a0004c0017t0060	a0001c0001t0054g0159 a0004c0017t0060g0017 a0001c0001t0054g0159 a0004c0017t0060g0017	2	288	0.0069	-1029	c.181 others(21): Show c.1811-13930_1811-12902del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241806497	TCCCTCCC others(1021): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	310	0.0032	-1028	c.23 others(11): Show c.2332_*3359del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2211		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806539	CCCCTCAG others(1021): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCAC GCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA20300.hp2 NA18954.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0057 a0002c0002t0002g0004 a0001c0001t0001g0057 a0002c0002t0002g0004	2	290	0.0069	-1028	c.23 others(11): Show c.2374_*3401del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2253		chr2	TogoVar
INA_chr10_103272138_103295346	103293407	CACGCCTG others(1021): Show CACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACGAG GTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTAC TAAAAATACAAAAATTAGCTGGGTATGGTGGCGCACGCCTGCAGTCACAG CTACTTGTGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCGGAGG TTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCCTGGTGACAGAGCA AGACTCCATCTCAAAAAAACGAAACAAAAAACAAACCCACTGGTAGGAAA TTTATGGAACTATCAGAAAAATATAATCATGAACGTCTCATACACTTTCT GCTCCAGCTGAGACCACTGTGTATAGCCACCCTGGGTCAATCCCCGTTAG AAGGAATCCCATTAGGAAAACATAAACCAGATCTAATAAGAGTATTGATT TCAGCTAGGCGTGGTGGCTTATGCCTGTAATCCCAGCGCTTTCGGAGGCC AAAGCGGGTGGATCACCTGAGGTCAGGGGTTCAAGATCAGCCTGGCCAAC ATGGTGAAACCCCATCTCTACTAGAAATATAAAAATATTAGCCAGGCATG GTGGGGGACACCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAAT CACTTGAACCCAGAAGGCGGAAGTTGCAGTGAGCCAAGATCATGCCATTG CACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAA AAAAACGAAAAAAAAGAGTATTGATTTCAAAACAGAGCCCAAAGAAAAAG CCAGAAATCTCTCTGGATGTAAATGGGTTTAAACACACACACACACACAC ACACACACACACACACACACACACGCACGCAGAGCTGGAAATGTTGCTTA CTTATAAGTACCATCACTAAATTTCAACTAATATTATTTTTATTATTATA TCATCAGATGTCTCTAAGTTCCTGAAAAACACCTAAATTGTAGGAATACT TTTATTTTTTTGGCCGGGCATGGTGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp1 others(61): Show HG00280.hp1 HG00323.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG02056.hp1 HG02083.hp2 HG02165.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0007 a0001c0001 a0001c0005 a0005c0007	a0001c0001t0002 a0001c0005t0002 a0005c0007t0002 a0001c0001t0002 a0001c0005t0002 a0005c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0020 others(33): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0045 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0182 a0001c0005t0002g0011 a0005c0007t0002g0003	64	416	0.1538	-1028	c.47 others(11): Show c.4739_*5766del	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding		3062		chr10	TogoVar
MYO10_chr5_16656907_16941288	16869603	GCCTGTAA others(1021): Show GCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACCTGAGG TCAGGAGTTCAAGGCCAGCCTAGCCAACATGGCAAAAGCGCATCTCTACT AAAAATACAAAAATTAGCCGGGCGTGCTGACGCATGCCTCTAATCCCAGC TACGTAGGAGGCTGAGGCAGAAGAATCGCTTGAACGCAGGAGACAAAGGT TGCAGTGAGCTGAGATTACACCACTGCACTCCAGCTGGGGCAAAAGAGCA AGACTCCATTTCAAAAAACTATAATAATAATAATAACTTAATAAAAACAG AAGGAGAAAGGAAGGGAAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAAA AAGAAAAGGAAAGGAAGCAGGCAGGTGTGCCCTTTAGTGATCTCACACGA AACAATACACTGTGATCTCCTGACACCCCGTGTTTCTGAGGTTCCATTTT AGGATTTTAGACACACATGGCTCTGCTTTTTCTCCAACACTAAACAGGAT TTTAAAATTGCTTTTTAATTCACCTGAGAATTATGATGCCGCAGTCAGCC CAACTCCTGGCCGCTGGAGGGGAGGGCTCAGAGAATAAAAAGGAAAGGAA AAGCTTCGAAGTGCAAGAAAAAAACCTTCTAACTTTACCCAAAGCCCTCC TTCTTTGCTTTATCTTTGCTTCCTCCAAAACACTAATACTGGTGGAATAC GGAAGGGCTTGAGTGCTTCTTGCTCTTCATTTTAAGTAATTATGACCCTA AGGCATTTTTCAGGAACGTCTTCAAAATCCTTACTACTCCAATGTGGTTG GTCCAGCAACATAATATCACCAAGGAGCTTGTGAAAAATTCAGCCCGCTC TCCAGCCCCACCCCAACCTGCCTGTCAGAATCTGCATTTTAACAAGATCC ACAGGTGATTCGTATGCACCACTCTAAATCAAAGGAAAATTACACTAATA GTTTTGTAAACTCTTTGTGGATTCTAAGAGGTCACCTTTGGGTAAAATAA AAATTTCGCAGCAGGCACGGTGACTCACA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02451.hp2 HG02486.hp2 others(12): Show HG02129.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG03195.hp1 HG03579.hp2 HG03710.hp2 NA18945.hp1 NA18962.hp1 NA18994.hp2 NA19000.hp1 NA19010.hp2 NA19030.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0009 a0018 a0027	a0001c0001 a0001c0003 a0001c0022 others(7): Show a0001c0001 a0001c0003 a0001c0022 a0002c0002 a0004c0004 a0004c0061 a0006c0009 a0009c0010 a0018c0056 a0027c0035	a0001c0001t0009 a0001c0001t0109 a0001c0001t0160 others(12): Show a0001c0001t0009 a0001c0001t0109 a0001c0001t0160 a0001c0003t0059 a0001c0022t0047 a0002c0002t0012 a0002c0002t0015 a0004c0004t0002 a0004c0004t0083 a0004c0004t0100 a0004c0061t0037 a0006c0009t0097 a0009c0010t0031 a0018c0056t0087 a0027c0035t0157	a0001c0001t0009g0248 a0001c0001t0109g0088 a0001c0001t0160g0269 others(12): Show a0001c0001t0009g0248 a0001c0001t0109g0088 a0001c0001t0160g0269 a0001c0003t0059g0052 a0001c0022t0047g0242 a0002c0002t0012g0115 a0002c0002t0015g0046 a0004c0004t0002g0195 a0004c0004t0083g0012 a0004c0004t0100g0133 a0004c0061t0037g0035 a0006c0009t0097g0212 a0009c0010t0031g0258 a0018c0056t0087g0007 a0027c0035t0157g0268	15	270	0.0556	-1028	c.120 others(17): Show c.120+6978_120+8005del	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
NEU4_chr2_241804193_241822413	241806497	TCCCTCCC others(1021): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTT CCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGA CCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAACCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	312	0.0032	-1028	c.-27 others(11): Show c.-2780_-1753del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2695		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806539	CCCCTCAG others(1021): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCAC GCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	292	0.0034	-1028	c.-27 others(11): Show c.-2738_-1711del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2653		chr2	TogoVar
NEXN_chr1_77883624_77948895	77934164	GATGCCCG others(1021): Show GATGCCCGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCATGT CGGCCAGGCTGATCTCGAACTCCTGACTTCAGGTGATCCGCCCACCTCGG CCTCCCAAAGTGCTGGTTATTACAGGCATGAGCCACCGCACCCGGCCTTT TTGTTTTCTTTTCTAAAGATGGGGTGATCGCACTTTATTGCCCAGGCTGG TCTCAAACTTCTGGCAAGCGATCCTCTGACCTGAGCCTTCCACAGTTCTG GGATTACAGGCATTAGCCATCATGCCCAGCCACTGTCTTGAAATTCTTAA TTTTACCTTTGAATTTGTGTGTTGTATGTAAGTGAAAACTGATTGGACGA TGAAGCATGCCCTATATAGGAGCTTTTGCTCACTAAAGCTTTACGCTGTC TTTCCTGCCTCCCTGGAATGGGTTTTCATCAGCCCCCTTTCCCAGGGCCC TGCCTAACCTTCTTCCCTCTTCGGACTCTGCTGCCATCCCTCTGGGTGGC CCAGGTTGCGTGGGCAGCAGAAGAGAAAGGTAGAATGGGGGCGTGTATTC GCCATCAGCCTTGGCCCCTGCCAGGGGCCAGGCCACACACATGAACAGGG TCAGGGTCTAAGATGTAGCCTCATGACTTGGACTGGCAATGCTATGGCAT GTTTGGCAGGCAACTTGGAGGGGTCCTCTCACCAATTTATAACCTAGGAA CCAGAAATACTTAATTATTAACTTGAGTATTAAGAGTGATGTTTACTTTG TAAGACTACCATAAAATCAAAAGTAGGAAAAATTTTAGATACTGTGGCTC TATTTAGAGATGAAGAAAATCATACAGTGGGTAAGTAACTGGGCAAAAGC CTGCACAGTATCAGAGCCAGGACTAGAACTCATATGACTCCTAGTCCAGT GTTCTTTTTTGTTTGTTTGAGACAAAGTCTTGCTGTGTCACCCAGCCTGG AGTGCAGTGGCACAATCTCGGCTCACTACAACCTCCACCTCAGCCTCCCA AGTAGCTGGGATTACAGGCACAAGCCACC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	266	0.0038	-1028	c.125 others(17): Show c.1251+711_1252-606del	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
TADA2A_chr17_37401886_37484725	37436483	CGAGTAGC others(1021): Show CGAGTAGCTGGGACTACAGGTGCGTGCCACCATGTCCGGCTAATTTTTGT ATTTTTAGTAGAGACGAGGTTTCATCATGTTGGCCAGCCTTGTCTTGAAC TCCTGACCTCAAGAGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATT ACAGGCGTGAGCCACTGAGGCCAGCCTAAAGTTTAATATTATACTCTTTA TGTTTCAAAGTTAAATCTACAAGCAAGGAATATTCAGAGACATCTAGCTT CTGGATAGATGTCTCTACCCTGTTCTCTTTCTTCCTCCCCATAGTAACCT TTTTTTTTTTAAAGTGTGTTTTATTCTTCCATTTAAAAAAATACATACAT ATTTGTCTTTTCCTCTTTCTTAGCTAAATGGGAGCGTACTGAAATATTTA TCTCTACCTCTGTGTTAAGTTTAAAAATATATGTATATCTGCATGAATTG CTTGGCATTTATAGGTGATATGGAGGCCCTTCTAGCTAATGGTGGAAACG GGTGGGAGAGGTGGACAACTAATAAGAATGTACCCTGGGTATCTCTCATC ATTCGGCTGTAAACTATTACTACAGTTGAAGTTCCTAGATTCCATTTATT TTTAATTTTTTTTTTTTTTTTGAAACGGAGTCTTGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCGCCTC CTGGGTTCATGCCATCCTCTTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCTCACCACCAGGCCCGGCTAATTTTTTATATTTTTAGTAGAGACG GGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCTCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGT GCCCGGCCTATTTTTGATTTTTGAGACAGAGTCTTGTTGTGACGCCCAGG CTGAAGTGTGGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTCCGCAG TTCAAGTGATTCTCCTGCCTCAGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp2 HG03540.hp2 HG01109.hp1 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0011 a0001c0001t0010g0263 a0001c0001t0010g0011 a0001c0001t0010g0263	3	350	0.0086	-1028	c.193 others(16): Show c.193-1235_193-208del	TADA2A	ENSG00000276234.5	transcript	ENST00000615182.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
A2ML1_chr12_8817621_8881787	8864244	GGCTCATG others(1020): Show GGCTCATGCCTGTCATCGCAGCACTTTGAGAGGCCGAGGCAGGCGGATCA CCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGATGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCCAGGTGCGATGGCAGGTGCCTGTAA TCCCAGCTACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGG CAGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGTCTGGGTGA CAAGAGTGAAACTCTGTCTCCAAAAAAAAAAAAAAAAAAAAAGCAACATC ATGAGGTCCATGTTTTACATGCAAGTAGGATATATATAATTATGGCTAAA TGTACATATTAATAAACTAGGAAGACCATTATGGGGTCTGTAAAGATAAC ACCAAGATTCATGGGCACATATCCTTCTATCCTTCTTCTGCTATTGCAGG TATTAGAAAGCTAATAAGATATAGTCTGAACTCTAAAAAGTTTACAGTCT AGAAGAAAAGCGAGGACAAAGTCTATGTATTACAAAGAGGATCTGGTTTA TAATATAAGAAACATGCAAAAGGTACAACATATCGAATTTCAAAATGGGA GAGAAAGCTCATATCAGCTTGAGGGATAAGAAAAGTCTTAGCCGGGCACA GTGACTCACGCCTATAATCCCAGCACTTTGGCAGCCTGAGGCGGTTGGAT CACTGGAGGTCAGGAGTTCAAGATCAGCCTGGTCAACATGGTGAAACCCC ATCTCTACTAAAATACAAAAATTAGCTGGATGTGGCCCCATCTCTACTAA AGATACAAAAATTAGCTGGATGTGGTGACATGTTCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCGGAAGGCAGAGGTTG CAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGTGACAAAGCAGC ACTCTGTGTCAACAACAACAATAAACAAAAACAAACAAAAACAACAACAA ACAAAAATTTTTTAGGCTGGACACAGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(335): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0015 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0027 a0029 a0030 a0031 a0032 a0034	a0001c0001 a0001c0002 a0001c0003 others(43): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0031 a0001c0038 a0001c0049 a0001c0050 a0001c0056 a0002c0004 a0002c0007 a0002c0021 a0002c0059 a0003c0009 a0003c0022 a0003c0025 a0003c0037 a0003c0042 a0003c0053 a0004c0006 a0004c0052 a0006c0012 a0006c0030 a0006c0051 a0007c0015 a0008c0014 a0009c0013 a0010c0018 a0010c0054 a0011c0010 a0012c0029 a0012c0048 a0015c0017 a0018c0023 a0019c0024 a0020c0027 a0021c0028 a0022c0058 a0023c0047 a0024c0039 a0027c0040 a0029c0041 a0030c0032 a0031c0044 a0032c0036 a0034c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0002 a0001c0031t0001 a0001c0038t0001 a0001c0049t0002 a0001c0050t0004 a0001c0056t0002 a0002c0004t0001 a0002c0004t0003 a0002c0007t0003 a0002c0021t0001 a0002c0021t0003 a0002c0059t0003 a0003c0009t0004 a0003c0022t0001 a0003c0022t0004 a0003c0025t0004 a0003c0037t0004 a0003c0042t0004 a0003c0053t0002 a0004c0006t0001 a0004c0052t0001 a0006c0012t0001 a0006c0030t0001 a0006c0051t0002 a0007c0015t0003 a0007c0015t0004 a0008c0014t0006 a0009c0013t0001 a0009c0013t0006 a0010c0018t0005 a0010c0054t0005 a0011c0010t0001 a0011c0010t0004 a0012c0029t0001 a0012c0048t0002 a0015c0017t0004 a0018c0023t0001 a0019c0024t0001 a0020c0027t0003 a0021c0028t0002 a0022c0058t0001 a0023c0047t0002 a0024c0039t0001 a0027c0040t0005 a0029c0041t0005 a0030c0032t0006 a0031c0044t0004 a0032c0036t0002 a0034c0055t0003	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(327): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0107 a0001c0001t0002g0143 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0233 a0001c0001t0002g0259 a0001c0001t0002g0288 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0330 a0001c0001t0002g0356 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0123 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0154 a0001c0001t0003g0180 a0001c0001t0003g0189 a0001c0001t0003g0192 a0001c0001t0003g0206 a0001c0001t0003g0266 a0001c0001t0003g0273 a0001c0001t0003g0278 a0001c0001t0003g0300 a0001c0001t0003g0346 a0001c0001t0004g0030 a0001c0001t0004g0061 a0001c0001t0004g0293 a0001c0001t0004g0335 a0001c0001t0004g0353 a0001c0001t0006g0015 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0002t0001g0153 a0001c0002t0001g0281 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0111 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0140 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0159 a0001c0002t0002g0170 a0001c0002t0002g0179 a0001c0002t0002g0184 a0001c0002t0002g0201 a0001c0002t0002g0207 a0001c0002t0002g0211 a0001c0002t0002g0217 a0001c0002t0002g0240 a0001c0002t0002g0248 a0001c0002t0002g0261 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0306 a0001c0002t0002g0309 a0001c0002t0002g0317 a0001c0002t0002g0331 a0001c0002t0002g0333 a0001c0002t0002g0336 a0001c0002t0002g0338 a0001c0002t0002g0347 a0001c0002t0002g0351 a0001c0003t0001g0004 a0001c0003t0001g0227 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0245 a0001c0003t0001g0246 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0314 a0001c0003t0002g0226 a0001c0003t0002g0254 a0001c0003t0002g0264 a0001c0003t0002g0322 a0001c0003t0002g0345 a0001c0003t0002g0357 a0001c0003t0003g0221 a0001c0003t0003g0229 a0001c0003t0003g0232 a0001c0003t0003g0263 a0001c0003t0003g0265 a0001c0003t0003g0267 a0001c0003t0003g0294 a0001c0003t0003g0319 a0001c0003t0003g0321 a0001c0003t0003g0325 a0001c0003t0003g0328 a0001c0003t0004g0260 a0001c0005t0002g0009 a0001c0005t0002g0010 a0001c0005t0002g0225 a0001c0005t0002g0228 a0001c0005t0002g0230 a0001c0005t0002g0242 a0001c0005t0002g0250 a0001c0005t0002g0253 a0001c0005t0002g0257 a0001c0005t0002g0258 a0001c0005t0002g0262 a0001c0005t0002g0323 a0001c0005t0002g0324 a0001c0031t0001g0186 a0001c0038t0001g0235 a0001c0049t0002g0070 a0001c0050t0004g0313 a0001c0056t0002g0332 a0002c0004t0001g0121 a0002c0004t0003g0080 a0002c0004t0003g0082 a0002c0004t0003g0083 a0002c0004t0003g0086 a0002c0004t0003g0090 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0101 a0002c0004t0003g0102 a0002c0004t0003g0119 a0002c0004t0003g0120 a0002c0004t0003g0284 a0002c0007t0003g0001 a0002c0007t0003g0049 a0002c0007t0003g0078 a0002c0007t0003g0084 a0002c0007t0003g0085 a0002c0007t0003g0088 a0002c0007t0003g0118 a0002c0021t0001g0223 a0002c0021t0003g0255 a0002c0021t0003g0320 a0002c0059t0003g0231 a0003c0009t0004g0092 a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0236 a0003c0009t0004g0237 a0003c0022t0001g0220 a0003c0022t0004g0218 a0003c0025t0004g0007 a0003c0037t0004g0122 a0003c0042t0004g0343 a0003c0053t0002g0349 a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 a0004c0006t0001g0068 a0004c0006t0001g0077 a0004c0006t0001g0108 a0004c0006t0001g0109 a0004c0006t0001g0224 a0004c0006t0001g0339 a0004c0052t0001g0234 a0006c0012t0001g0155 a0006c0012t0001g0169 a0006c0012t0001g0208 a0006c0012t0001g0318 a0006c0030t0001g0315 a0006c0030t0001g0355 a0006c0051t0002g0354 a0007c0015t0003g0026 a0007c0015t0003g0039 a0007c0015t0004g0276 a0008c0014t0006g0106 a0008c0014t0006g0340 a0008c0014t0006g0341 a0008c0014t0006g0342 a0009c0013t0001g0125 a0009c0013t0001g0197 a0009c0013t0001g0199 a0009c0013t0006g0198 a0010c0018t0005g0022 a0010c0018t0005g0023 a0010c0018t0005g0037 a0010c0054t0005g0312 a0011c0010t0001g0165 a0011c0010t0001g0166 a0011c0010t0001g0167 a0011c0010t0004g0117 a0012c0029t0001g0006 a0012c0048t0002g0334 a0015c0017t0004g0013 a0015c0017t0004g0194 a0015c0017t0004g0195 a0018c0023t0001g0247 a0018c0023t0001g0252 a0019c0024t0001g0091 a0019c0024t0001g0095 a0020c0027t0003g0196 a0020c0027t0003g0360 a0021c0028t0002g0066 a0021c0028t0002g0113 a0022c0058t0001g0244 a0023c0047t0002g0081 a0024c0039t0001g0200 a0027c0040t0005g0216 a0029c0041t0005g0359 a0030c0032t0006g0163 a0031c0044t0004g0033 a0032c0036t0002g0110 a0034c0055t0003g0222	338	366	0.9235	-1027	c.371 others(18): Show c.3717+249_3717+1275del	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	29/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP11A_chr13_112685038_112892168	112863031	GCAGTAGT others(1020): Show GCAGTAGTTCAGTGCGGCCCATGCAGCTTCCCAGCAGGGTCCATCACCAC CTGCACAGTAATTCAGCGTAGCACATGCAGTTTCCCAGCGGGGTCCATCA CCACCTGCACAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCC ATCACCACCTGCACAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGG GTCCATCACCACCTGCGCAGTAATTCAGTGCAAACCATGCAGCTTCCCAG CGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTC CCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAG CTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCCT GCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGC CCATGCAGCTTCCCAGCGGGGTCCATCACCACGTGCGCAATAATTCAGCA TAGCACGTGCAGCTTCCCAGCGGGATCCATCACCACATGGGCAGTAATTC AGTGCGGCCCATGCAGCTTCTCAGCGGGGTCCATCACCACCTGCACAGTA ATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGATCCATCACCACCTGCGC AGTAATTCAGTGCAGGCCTGCGCAGCTTCCCAGCGGGGTCCATCACCACC TGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCTCAGCAGGGTCCATCAC CACCTGCACAGTAATTCAGTGCAGGCCATGCAGCTTCTCAGCGGGGTCCA TCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGG TCCATCACCACCTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGC GGGGTCCATCACCACCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCC CAGCGGGGTCCATCACCACGTGCACAGTAATTCAGTGCAGCACGTGCAGC TTCTCAGCAGGGTCCATCACCACCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0010 a0002c0010t0010	a0002c0010t0010g0222 a0002c0010t0010g0222	1	244	0.0041	-1027	c.299 others(18): Show c.2991+462_2991+1488del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKB_chr7_14140049_14907751	14211360	TATTTACT others(1020): Show TATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGT TTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGT TTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0063 a0001c0003t0002g0063	1	121	0.0083	-1027	c.212 others(21): Show c.2123-34236_2123-33210del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
PCGF3_chr4_700832_775089	745327	CGGGGGTC others(1020): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	357	0.0028	-1027	c.462 others(16): Show c.462+644_462+1670del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CACNG7_chr19_53904278_53948950	53922127	CCTGGTCA others(1019): Show CCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGTC CCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTG TCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTG CAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTCATT GGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTG GTCATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAG GTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCC CAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTT GTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGTCCCAGGACTGGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGG TGCAGTTGTCCCCAGGCCTGGTCATTGGTGCAGTTGTCCCAGGCTGGTCA TTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTG GTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTGTCCCAGG CTCGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCC AGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTG ACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAG TTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGTCCCAGGACTGGTCATTGGTGCAGTTGCCCCAGGCCTGGTCAT TGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTTGTCCCCAGGCCTG GTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGCCCCAGGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	340	0.0029	-1026	c.424 others(17): Show c.424+6646_424+7671del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	990471	GGACCCCC others(1019): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCC CCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGG ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTC TTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCT GTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCACCTTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0002 a0002c0001t0011g0002	1	23	0.0435	-1026	c.73+ others(17): Show c.73+82555_73+83580del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	990840	ACCTTGCC others(1019): Show ACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCA GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTA CCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCAC CTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTT CTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	21	0.0476	-1026	c.73+ others(17): Show c.73+82928_73+83953del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991866	CCCTTGCC others(1019): Show CCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATAC TCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCC ATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCAC CCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCT GCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACC CCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCG GACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTG CCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCAC CTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTT CTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCC TGTTCTTCTCTCCCTCCTTGCCTGGACCCCCTGCACCCCCATACTCGGAG TTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTC GGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	25	0.0400	-1026	c.73+ others(17): Show c.73+84013_73+85038del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RASA3_chr13_113972783_114137623	114083770	ACGGGGAA others(1019): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCG ACTCCCTTCGTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	46	0.0217	-1026	c.56- others(16): Show c.56-10959_56-9934del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114084887	CTCCTCGC others(1019): Show CTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTG CTGAGTCTGGAGTATCGACTCCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	55	0.0182	-1026	c.56- others(17): Show c.56-12076_56-11051del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
PCDH7_chr4_30715369_31151800	31012325	CATGTTGG others(1018): Show CATGTTGGTTTATTATTGCTGAATTTATCCTCTGACTACTAAATATAGAA GATGTCTCAATTTTCATTACAAACTGCCCCCTTCTAGAAAAGCAAAACAG CAACACTCACAGAATACTTGTCTAAACTTAAGGTTTGATGCTTTTAGAGA GTCTTGTTATTTACTAGGCATTGGGTACAAGGTACTCAATACATTTTGTA CCAATGAGGCATAAAAATCTACATTTTATTTGGTAAATGTATTTGATATA TAACTTCAGATAAGATCTCTCTATAGAAGAAAAAAATTAACACTTGCATT AATCTTGCCAGAAAAGTTATTTCTACTAAAATAGTAAAAATAAGAAATTA TCTTACTAGAAAACAGAGATTTCTTTCCAACTTTTTTATTCAATTGAAAG CAGATGTCCAGGCTCACACCTGTAATCCCAGCACTTTAGGAAGCCTAGGC AGGAGAATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGC GAGAGATGGTCTCCACAAAAAATAAAATGAAATCAATAAGCCAGGCATAG TGGCATGTGGCTGTGGTCCCAGATACTCTAGAGACTGAGGCAGGAGAATC CTTTGAGTTCAGGAGTTTGAGGCTGTAGTGAGCTATGAAATGATCTCACC ACTGTGCCCAAGCCTGGGCAACAAAGTGAGAGATGGTCTCTACAAAATAT AAAATGAAATAAATTAGCCAGGCATAGTGGCACATGGCTGTAGTCCCAAA TACTCTAGAGGCTGAGGCAGGAGGATACTTTGAGTTCAGGAGTTTGAGGC TGCAGTGAGCTGTGATATGATCACACCACTGTGCTCCAGCCTGGGCAACA GAAGGAGACCCTGTTCTCTAAAGAAAAAGAGTGGAAACATTAAATTAAAG GAAATAACCAACTATGGATGCACACATGGAAGTATTTCTGTGTATTTAAT GAAGACTATGTGTACATATATCTAAGACTATATATGTATACACACACACA CATACACACATACTATATATCTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(32): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01496.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02155.hp1 HG02683.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19011.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0001c0019 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0018t0002 a0001c0019t0005 a0004c0015t0001	a0001c0001t0001g0091 a0001c0001t0002g0084 a0001c0001t0002g0086 others(32): Show a0001c0001t0001g0091 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0173 a0001c0001t0003g0065 a0001c0001t0003g0079 a0001c0001t0003g0082 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0004g0047 a0001c0001t0004g0083 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0038 a0001c0001t0005g0044 a0001c0001t0008g0026 a0001c0001t0008g0036 a0001c0001t0008g0039 a0001c0001t0008g0042 a0001c0001t0012g0029 a0001c0001t0012g0037 a0001c0001t0015g0001 a0001c0001t0024g0035 a0001c0001t0025g0028 a0001c0001t0030g0081 a0001c0002t0001g0167 a0001c0002t0002g0122 a0001c0002t0002g0135 a0001c0002t0004g0152 a0001c0018t0002g0060 a0001c0019t0005g0041 a0004c0015t0001g0080	35	214	0.1636	-1025	c.339 others(21): Show c.3391+91961_3391+92985del	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRPSAP2_chr17_18853131_18936287	18887825	TAACTTGT others(1018): Show TAACTTGTTCTTTCTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAAT TCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAG TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC TAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTT GAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGTAT CTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAG TGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAG ATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATG AAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGA TTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGC CATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGA CGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCTGGGCGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGG CTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGT GGCCGGGCAGAGGCGCCCCTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(173): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0003t0003 a0001c0005t0002	a0001c0001t0002g0171 a0001c0002t0002g0001 a0001c0002t0002g0003 others(172): Show a0001c0001t0002g0171 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0130 a0001c0002t0004g0131 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0136 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0007g0197 a0001c0002t0007g0358 a0001c0002t0008g0088 a0001c0002t0009g0179 a0001c0003t0003g0005 a0001c0003t0003g0006 a0001c0003t0003g0007 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0005t0002g0057	176	390	0.4513	-1025	c.529 others(16): Show c.529-1981_529-957del	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEMA3E_chr7_83358238_83654139	83420853	CTCTAACT others(1018): Show CTCTAACTATAAGAATCCTAGAAGAAAACCTAGGATATACTCTTCTTGAT ATTAGCCTTAGCAAAGAGTTTTTGACTTAGTCCTCAAAAGCAATTGCAAC AAAAACAAAAACTGACAAGTGGGACCTAATTAAAGAGCTTCTGCACAGCA GGAACTATCAACAGAGTAAACAGACAACTTACAGAATGTGAGAAAATATT TGCCAGCTATCATCCAACAAAGGTTTAATATCCAGAGTGTATAAGGAACT TAACTCAAAAAGTATTACTGATTTTTTTAATAGTTTGGAAAAGAATAACA AAATGTACTCTCAATAATTTGGAATATTTATTTTCAATTTTATTCTTCAT CACATAGTATTTGTATAAACATTCAATGTTTAATAACATAGAATAATGCA TAAGTACTGTAAATATTTATCAACAAATGCCATATTATGTACAATATTTC AATTTTAATATAAGGCTTCACACAGATAATGAAAATTAATATTTTCATGA AAAACTACTTTATTGGCTCCTATTTCAAGCATATAACCATAGAACTTATC CCTTAATGTTTCCAGGTTTCAAAATTCTCATTAAAGGTTGTTTTGTATAA TTAATCTCCATTAAGTATACTACAAGTGGTGTGGGTAAAAAAAGTAGTTT AGAAAAGTGACAATAAAAATCAATATTGAAAAACTTGTATAAAAAACTAA TTTAAAATAGAACATCATGATATTGCTCAATTTGGCAACTATGTACAACC CTGCTCATCTGTGAACCACAAACCTATAAACAATCTTGAAAGTCCAGAGT AACCTCTGAGAGTTGAGGGCACTTCTCTCAAACTTGATCTTAACTTTGCT AGTCATCTGATTTACCCACATTATCTGTTCTGTCTTTGTCTTGCTATTCT TATTTAGCACCCTTTTCTCTTTCTCTGTGATATCCTAAAATCACATCCTG ATCCTGCCGTTTTGAAAACTTTTCAGTAAATGCTGAGTTCACCCAACCAC TACTACCATCCAGTCTTATCCTTGGA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp1 HG01071.hp1 others(22): Show HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01261.hp1 HG01515.hp1 HG01934.hp2 HG02083.hp2 HG02109.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02896.hp2 HG03139.hp1 HG03486.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0003c0009 a0001c0001 a0003c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0031 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0003c0007t0004 a0003c0007t0023 a0003c0007t0026 a0003c0009t0063	a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 others(22): Show a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0003g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0156 a0001c0001t0006g0189 a0001c0001t0008g0186 a0001c0001t0008g0190 a0001c0001t0015g0199 a0001c0001t0031g0009 a0001c0001t0035g0015 a0001c0001t0044g0105 a0001c0001t0045g0114 a0003c0007t0004g0154 a0003c0007t0023g0143 a0003c0007t0023g0165 a0003c0007t0026g0006 a0003c0009t0063g0182	25	224	0.1116	-1025	c.457 others(17): Show c.457-3395_457-2371del	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SGTA_chr19_2749715_2788273	2772765	ATGGGTGA others(1018): Show ATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGAC GCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAAATGGGTGACGCGGCCACAGGGCAGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGGTGGGTGACGCAGCCACACGGCAGGGACTCCGAGGGCAGAGGTGG GTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGG CCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCC GAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGA CGCGGCCACAGGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCAC ACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACTCCGAGG GCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATG GGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCG GCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGG CAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTC CGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAG AGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTG ACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCA CACGGCGGGGACACCGAGGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02559.hp1 others(3): Show HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0175 others(3): Show a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0006t0004g0176 a0001c0006t0004g0177 a0001c0006t0004g0178	6	353	0.0170	-1025	c.-23 others(17): Show c.-23-4699_-23-3675del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SGTA_chr19_2749715_2788273	2772947	CGGCAGGG others(1018): Show CGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCAGCCACACGGCAGGGA CTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGG GTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGG CCACACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGC AGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACC GAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGA GATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGA CGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCAC ACGGCAGGGACTCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGG ACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGG GCAGAGGTGGGTGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTG GGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACG GCCACACGGCAGGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGG CAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACAC CGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAG AGGTGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTG ACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCA CACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGG GACTCCGAGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACTCCGAG GGCAGAGATGGGTGACGCGGCCACAG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 NA18522.hp1 HG02258.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0018 a0001c0003t0008g0049 a0001c0003t0008g0018 a0001c0003t0008g0049	3	392	0.0077	-1025	c.-23 others(17): Show c.-23-4881_-23-3857del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
ZNRF3_chr22_28878572_29062488	29061463	TCCATGTT others(1018): Show TCCATGTTGGTCAGGCTGGCCTCGAACTCCCCACCTCAGATGATCCGCCC GCCTCAGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCATGTTCG GCTGAATACACTTTCTAACCAACTGCCATGCACCAAGAAGAGCTCATTCA CAGGGAAATCAATATACTCTGGGGACCATAAAAGCAACACGAAAACATTA ATGCTGCCGGCCTCCATTTCCTGGGACCAACTAAGAGCAACAGAACAATT TGGATAGATTAGAATCACATATTTAAAGAGATCTGGCTTTCTAAGAAATG TCATCTATAGAAATAAAATCACCTTACCATATTTCAGTTGCCTTAAATTT TATTTTCGCTAGCTTAGTAAGGGGAAGAAATATGTATTTTCTCTTTCCTT TTTCTCTCTCTCTCTTTTTTTTTGTTTTTGTTTTAATATTTCTAGTCACC TGTCTTTCTCTGCCTTAGTCACATATGGGCAAATTGCTGTTTGTTTAGAT GTGGGCTCAATGCAGGCAGCTTTGAGCCATTATCTCTAGTATTTGTGATG TCACTTTGGTTTGTGATGTGGGTGTGGGTGGGTGTTACATCATCAGATTT TATAGTTAAATTATGTGGGAAGAAGTTCTATACGGTTTTGCTTCTAGCCT CAGAAACTTCTGAAGTCCTCATTTCCCCCAAAATGGCTTGGATGAATTTT GAAGATCTTCATGTTCTTAAGAAGTATGTTTTGCAGGAAATGTAGTCAAA TATGCAGACCAGATTTGGGGATATGGGTAGTGAGATGCATCCCTACATGT GCAAAAGTGCCCTCCTTCATGTACATAAAGGAGGCACTGTTAAGTTCTCA GAACAGCTGCCAAGGTTAGGGACCAGGAATGAAAGAACACGTTCCTGCAG ACCTGGGCACCTTTCCCTGCATGTCTCTCCCGGGAAGACTACATGGTTTC TGGAATGTGGGTTTCTTTTACATCCCATGGCAAATGCAGTAATTAGAGCT GTTAGCAGTGTCAAGGGCTTGAAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	268	0.0037	-1025	c.78 others(11): Show c.7842_*8866del	ZNRF3	ENSG00000183579.16	transcript	ENST00000544604.7	protein_coding		3976		chr22	TogoVar
LRRTM4_chr2_76742685_77527376	77092974	TCAGGCCT others(1017): Show TCAGGCCTGTCCTCAGAATGCTACAGGGTACAGCCCATTTAAGCTCCTTT ATAGACGCTCCTTTTATTAGGCCCCAGTCTCATTCCAGACACCAGACCAA CTTAGACTGTGCCCCAAAAAACTTGTCATCCCCACTATCTTCTGTCTAGT CATACTCCTATTCACCGTTCTCAACTACTCATACATGCCCTGCTCTTGTT TACACTGCCGGTTTACACTGTTTTTCCAAGCCATCACAGCTGATATCTCC TGGGGCTATCCCCAAACTGCCACTCTTAACTCTTGAAGTAAATAAATAAT CTTTGCTGGCAGGACTATGCTGAATCTCCTTAGGCACTCTCTAATCAGAT GTCCTGAGTCGTCCCAATTCTTAGACCTTTTATACCTGTTTTTCTCCTTC TGTTATTCTATTTAGTTTCTCAATTCATCCAAAACCGTATCCAGGCCATG ACCAATCATTCTATACGACAAATGTTTCTTCTAACATCCCCACAATATCA CCCCTTACACAAGACTTCCCTTCAGCTTAATCTCTCCCTCTCTACATTCC CACACCACCCCTAATCCCGCTTGAAGCAGCCCTGAGAAACATCGCCCATT CTCTCTCCATACCATCCCCCCAAAAATTTTCGCTGCCCCAACACTTCAAC ACTATTTTGTTTTATTTTTCTTATTAATATAAGAAGACAGGAATGTCAGG CCTCTGAGCCCAAGCCAAGCCATCGCATCCCCTGTGACTTGCACATATAC GCCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAATATGCC CTGCCCCGCCTTAACTGATGACATTCCACCACAAAAGAAGTGTAAATGGC CGGTCCTTGCCTTAAGTGATGACATTACCTTGTGAAAGTCCTTTTCCTGG CTCATCCTGGCTCAAAAAACACCCCCACTGAGCACCTTGCGACCCCCACT CCTGCCCGCCAGAGAACAAACCCGCTTTGACTGCAATTTTCCTTTACCTA CCCAAATCCTATAAAACTGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	128	0.0078	-1024	c.155 others(23): Show c.1552-345082_1552-344059del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
MRPL45_chr17_38292168_38328211	38315930	CACCTGGC others(1017): Show CACCTGGCTAATTTTTGTATTTTTTAGTAAAGATAGGGTTTCACCCTGTT GACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGC CTCCCAAAGTGCTGGGATTACAGGTATGAGCCATTGTGCCTGGCCGCATT ATTTCTTCAAATTTTTTTTCTATCCATTTCTTTCTTCTTTTTCTGGGACT CCTATGATGTGTATTTGGTATACTTGATGATGTCCCACAGGTCCCTCAAG GTTTTGTTCATTTTTTTTCCATTATTTTTTCTCTTTGCATTTTAGACTAT GTAATTTTAATTACCTTATCCTCAAGTTCACTGATACTTTGCCTGCTCAA ACCTGCTGTTGAACCCCTCTAGTGAATTTTAAAATTTATTGTACTTTTTA GCTCCAGAATTTCTGTTTGGTTCCCTTGTATAATTTCTGTCTCCAATGTG TTCACACATTGTTTTTCTGATTTCATTACTTCTTTGTCCATGGTTTCCTT TAGCTCATTGGACATATTTAGGACAATTGATTTGTGTCTTTACTAATAAT TACAATGTCTGGGTTTCCTTAGGGGTGGTTTCTGTCAAATTATTTTTTGG TCAGGTGTGGTGGCTCATGCCTATAATCCAGTACTTTGGGAGGCCGAGGC GGGCAGATCACTTGAGTCCAGGAGTTCGAGACCAGCCTGGCCAACATGGT GAAACCCCAACTCTACTAAAAATACAAAAAAAGCTGGGTGTGGTGGCGTG CACCTGTAGTCCCAGAATCTCACTCTGTAGCCCAGGCTGGAGGGCAGTGG TGCAATCCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAAGTGTATTTG TCTGTTTTACATTTTATCCAACATTTCCTTTTTTTTTGAGACGGAGTCTT GCTCTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAC CTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAATAGC TGAGACTCCAGGTGTGTGCCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0035 a0006c0006t0001g0035	1	286	0.0035	-1024	c.462 others(17): Show c.462-2733_462-1710del	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPRH_chr19_55176247_55214501	55207648	TTGGGGGC others(1017): Show TTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTC TGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAG GAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGT CTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGA GGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGG ACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTT GGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGG AGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GGTCTCGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTG AGTCTGAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGGA GGGGCTGGGGGTCTGGACTCCTGGGCCTGAAGGAGGAGGGACTGGGGGTC TGGACCCCTGAGTCTGAGGGAAGAGGGGCTGGGGGTCTGGACTCCTGAGT CTGAGGGAGGAGGGGTTGGGGGCCTGGACTCTTGGTTTGAGGGAGGAAGG GCTGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGTCTGGA CTCCTGGGTCTGAGGGAGGAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0086 a0010c0086	a0010c0086t0002 a0010c0086t0002	a0010c0086t0002g0039 a0010c0086t0002g0039	1	376	0.0027	-1024	c.51+ others(13): Show c.51+711_52-450del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
SCAPER_chr15_76342904_76910340	76907343	CCGCCTGT others(1017): Show CCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGG TCAGGAGATCGAGATCGAGACCATCCTGACCAACATGGTGAAACCCCATC TCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCATGTGCCTGTAA TCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTGAACCAGGGAGAC GGAGGTTGCAGTGAGCACAGATCATGCCACTGCACTCAAGCCTGGCGACA GAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGTCACTAGGGATTTCCCT ACTATATATCTTATGGACATTATCATCATTACCTAACTTAATTTCTCTTC ATGACCCTCCTTCCTTCTGGAAATACTTTTCCTTGCCTTTCATTTTTACT CTCTTGGTAGCACTTCTCCATCTCTAACCACTCCCTCTCCATCTCTTTTA AAGTCTCTCTTATTTCTCCCAGCCTTTAAATATTGTTATCCCACAGGAAT AGGTATAAGCCTTCACTCTTTTCCCACTGGACACACTCTCTACATGACCA CTGCCTTTTACATAACTTTGGTTAGCATCTTTATGCTCTGGATTTCCGAA TATATATCCCCAGCCCTGATTCCTACTCCTGGGATCCAGGCCACATTGTT AACTACCTACTGGTCATCTCCACTTGAATTAATAAAAATAAATATGACAA AAATAAAAATGATTCATCTTTCTTATATACATATAAAACAGCTTTATTGA GATGTAACCTACATACAAATCAGTGGTTTTTAGGATATTCACACAATTGT ACAATCATCACTGCATTTTCTTTACCCCGGAAAGGAACCCAGTACTCACT TCTCCATTTTCCCTCAATTCTCTCAGCCATAGGCAACCACTAATCTACTT TCTCTATGCATAGATTTGCCTACTCCGGACACCTTGTATAAAGGGAGTCA TGAGATGTGGTATTTTGTAACTGGCTTCTTTCACTTTGCATATATTCGAG GTATGTTTCTGGGCGCGGTGGCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18972.hp2 NA19064.hp2 others(2): Show NA18945.hp2 NA18972.hp2 NA19064.hp2 NA19065.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0230 a0002c0002t0002g0252 a0002c0002t0002g0256 others(2): Show a0002c0002t0002g0230 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0265 a0002c0002t0002g0287	5	310	0.0161	-1024	c.-31 others(11): Show c.-3128_-2105del	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding		2004		chr15	TogoVar
NTM_chr11_131365615_132341822	132069625	TCACAGGT others(1016): Show TCACAGGTTAGTTAACAGGTCACCCAGCCAAGTTAACACGTCACACTGAC CATCACAGGTTAGTTAACACGTCACACAGCCAGGTTAACACGTCACACTG ACCATCACAGGTTAGTTAACACGTCACACAGCCAAGTTAACACGTCAAAC TGACGATCACAGGTTAGTTAACACGTCACACAGCCAAAACACATCAAACT GACCATCACAGGTTAGCTAACACGTCACACAGCCAAGTTAACACGTCACA CTGACCGTCACAGGTTAGTTTACACGTCACACAGCCAAAACACGTCAAAC TGACCATCACAGGTTAGTTAACATGTCACACAGCCAAGTTAACACGTCAA ACTGACGATCACAGGTTAGTTAACACGTCACACAGCCAAGTAAGTTAACA CGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCAAGTTAA CACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAGTT AACACGTCACACAGCCAAGTTAACACGTCAAACTGACCGTCACAGGTTAG TTAACACGTCACACAGCCAAGTTAACACGTCAAACTGACCATCACAGGTT AGTTAACACGTCACACAGCCAAAACACGTCAAACTGACCATCACAGGTTA GTTAACGTGTCACACAGCCAAGTTAACACGTCAAACTGACGATCACAGGT TAGTTTACACGTCACACAGCCAAAACACGTCAAACTGACCATCACAGGTT AGTTAACACGTCACACAGCCAAGTAAGTTAACACGTCAAACTGACCGTCA CAGGTTAGTTAACACGTCACACAGCCAAGTTAACACATCACACAGCCAAG TTAACACGTCAAACTGACCGTCACAGGTTAGTTAACACGTCACACAGCCA AGTTAACACGTCAAACTGACCGTCACAGTTTAGTTAACACGTCACACAGC CAAGTTAACACGTCAAACTGACCATCACAGGTTAGTTAACACATCACACA GCCAAAACACGTCAAACTGACCAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	86	0.0116	-1023	c.168 others(19): Show c.168-76640_168-75618del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RIPK1_chr6_3063494_3120187	3093205	CGCAGAGC others(1016): Show CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTA GGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTAC CTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCT AGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTA CCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCACCTAGTAACT GCAGAGTACCTACCTGCCGCACCTAGTAACTGCAGAGTACCTACCTGCCG CACCTAGTAACTGTAGCGTACCTACCTGCTGCACCTAGTAACTGCAGAGT ACCTACCTGCTGCACCTAGTAACT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0045	1	338	0.0030	-1023	c.915 others(17): Show c.915+3553_915+4575del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1345195	CTTTTCCC others(1016): Show CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCC CTGTTGTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTC TCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGAC TGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTC CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	153	0.0065	-1023	c.148 others(21): Show c.1489-22144_1489-21122del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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