Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SNTG2_chr2_945849_1372613	1345199	TCCCCCTG others(1016): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGT TGTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGC ACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGC CTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTA ATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT GGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0097 a0003c0026t0001g0097	1	175	0.0057	-1023	c.148 others(21): Show c.1489-22139_1489-21117del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42BPB_chr14_102927380_103062549	103034774	TGCCACTG others(1015): Show TGCCACTGCGCTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCCAAAAA AAAAAAAAAAAGAAAAGAAAAGGGATGTAGAGGGGACTATGAAATGGATA CTAATTCAGAATAGCCTGGATTTTTAAAGTTTCTTTCCTTAATATTAAAC AAAGTTTTATTTATATTACAAACCAATTATTATTAAAATGCTATTGGAGA AAAACTATAAAATCTGATCAACTGAGGATCTAGCAGTATTCAAAAATACC ACCATTCAATAGGGGCAACTAGCAATTAATTCTATACTTTTTTTTTTTTT GAGACGGAGTTTCGCTTTTGTTGCCCAGGCTGGAGTGCAAGTGGCACAAC CTCAGCTCACCACAACTTCCGCCACCCAGGTTCCAGCAATTCTCCTGGCT TAGCCTCCCAAGTAGCAGGGATTACAGGCATGTGCCACCATGCCCGGCTA ATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCTTGTCGGTCAGGCTGGT CTCAAACTCCTAATCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAATGC TGGGATTACAGGTGTGAGCCACCGCGCCCAGCTCAAGTGGTTTTATAAAT GCATACTTTAAAATTTCACTCTCTAAAATATTTTTCAGGGGTCAGGTGTG GTGGTTTACACCTATAATTCCAGCACTTTGGGAGGCCTGCCAGGCAGGAG GATCACTTGAGCCCAGGAATTGGAGACCAGCCTGGGCAACATAGTAAGAC TTCAACTCTACAAAATACTAAAAACAAGGCCAGGCAGCCAGGTGCGGTGG CTCATGCCGGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACG AGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCT TCTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGGCGCCTGTAGTCC CAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGG AGCTTGCAGTGAGCGGAGATCAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0254 a0001c0001t0038g0254	1	318	0.0031	-1022	c.175 others(19): Show c.175+21203_175+22224del	CDC42BPB	ENSG00000198752.11	transcript	ENST00000361246.7	protein_coding	1/36			chr14	TogoVar
INPP5A_chr10_132532787_132788480	132771767	TGAAGAGT others(1015): Show TGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGC CCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACAGCAGCCAC CCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAG CCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACG GCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGC CACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAG AGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGAC ACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCAC TGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCA GCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACA CTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACA GACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGG GACGGACACTCAGCACTGACACGGAGGCCACGGCAGCCACCCCACGAGGA GTGGGACAGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCATG AAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCC GATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCC ACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	197	0.0051	-1022	c.978 others(17): Show c.978-5865_978-4844del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LETM1_chr4_1806479_1861156	1828316	GGGCAGGG others(1014): Show GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCCGGACGGGGC AGCTGGCTGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCAGAGGGGCTCCCCACTTCCCAGCAGGGGCGGCCGGGCAG AGGCGCCCCCCACCCCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGAGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGAGCTGACCCCCCCACCTCCCTCCTGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCAGACGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG03098.hp2 others(4): Show HG01975.hp1 HG02257.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0004 a0001c0002t0017 a0001c0002t0019 others(2): Show a0001c0002t0004 a0001c0002t0017 a0001c0002t0019 a0005c0005t0004 a0005c0005t0018	a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0017g0019 others(3): Show a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0017g0019 a0001c0002t0019g0017 a0005c0005t0004g0004 a0005c0005t0018g0026	7	198	0.0354	-1021	c.108 others(19): Show c.1080+3407_1081-2634del	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding	6/13			chr4	TogoVar
ADAMTSL3_chr15_83649123_84044842	83909740	GAGTAGCT others(1013): Show GAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGAATCTCAGCATGTTGGCCAGCCTAGTCTTGAAC TCCTGACCTCAGGTTATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATT ATAGGCATGAGCCACCACGCCCGCTGATGGGTTTTGACAGATGTATGTAC CCCTCAAACCCCAGTCCCACTCAAGATCCAGAACATTTCCATCCCTACAA AAGTTTTCTTTGCAGCTTCTCTTTCTCTCTCTCTCAACACTGCATTCACT TCCAAGTCTGGCCTCTGTGTCATTAATTTGATCTTCAGCCATGTTTCTTC TGTTTTTTCCTAGTTATGAATTGTTAGACTTGTGACAATAGTGTTATTAT GTTTCACAGTTGGTTTCCATTTTCCCTTTTACTCTGTTGTTTTATCATCT CATCTCGAAACTCTCACATCAGTGAAATGATATTCTTTTTAAGTTCTTCC ATGTGCAAAGACGTAGGTAACACAGCCTGTTCCTCTGGTTGTGTTTTGCC CAGACATGGCTCTTTCAATGTATTCCTTTCTTTCTTTAAAAAAAAAAAAA TTGGTGAGGGGAGACAAGATTCAGAATTGTATGAACACTATAATATCTTT AATTTAAATAAAAAATAATACATAGAAGGAAATCATGCTGGATTCTGTGT AATTATTTTTTAGTTGCCGTGGGTTTTTTTTTTTTTTTAACCTTTAAGTC ACTTCTTGTTACTTTGGACAGAACTAACATTTACTTTTTAACAGGACTTT TAAAAAGATCGTTGAAAACCAACTTGAAATATACAGAAAAACTAGGAGGA CATTGAGTATAACCATTATTTGCCCTGCTGGGAGTTTAGGTGAACCTTTT TTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTACCCAGGCTGGAGTGC AGTGGCACAATCTTGGCTCACTGCAACCTCCACCTCCTTGGTTCAGGCGA TTCTCCTGCCTCAGCCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0246 a0003c0003t0001g0246	1	272	0.0037	-1020	c.170 others(19): Show c.1701-3319_1701-2300del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ATL1_chr14_50555145_50638045	50624013	CCACTGCA others(1013): Show CCACTGCACTCCAGCCTGGGCAACAGAGCAAGAATCTGTCTCAAAAAACA AAATGTTATGAAATTAAAATTGCGTTCAAATTGAAGTCTTAGAATGAAGG AAAATGTAGTATATGGAGTGGCATTATTTATAAGGACAATCAGAATGAAA GAATTCTCGATATAATTAAATCTCAAATGCAGGCATACATACCTCATTTT ATTGAGCCTCACTTTCTTGCACTTTTTACAAATTGAAGTTTGGTGGCAAC CCTATGTGAAGCAAGTCTATTGACGCCCTTTCTCCAACAGCAAGTGCTCA CTTCATGCCTGTGTCACATTTTGGTAATTCTCACAATTTTTCAAACTTTT TCATTATTATTATATCTGTTATGGCAACCTGTGATCAGTGAGTGCTGATG TTACTATTGTAATTGTTTCAGAGTGCCATTAACTGTGCTGTTATAAGATG GTGAACTTAATCGATAAATGTGTTTTCTGACTGCTCCATCAACCAGCAGT TCCCCCATCCCTCCCTCTCTGCAGTCCTTTCTTTTACCTGAGGCACAACA ATATTGAAAATAGGCCAATTAATAACCCCACAATGGCCTTTAAGTGTTGA AGTTCAAAGAGACACATCTCTCACTTTAAATCAAAAGCTAGAAATGACTA AGCTTAGTGAGGAAGGCATATGAAAAGCTGACATAGGCCAAAAGCTAGGC CTTTGCACCAATTAGTTAGCCAGGCTGTTGGATGCAAAGGAAGAGTTCTT AAAGGAAATTAAAAATGCAACTCCAGGCTGGGCCCAGTGGCTTACACCTG TAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAA TACAAAAATCAGCCAGGCATGGTGGCACATGCCCATAGTCCCAGTTACTT GGGAGGCCGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAA TGAGCCAAGATCGCACCACTG	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	318	0.0031	-1020	c.111 others(18): Show c.1119+785_1119+1804del	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(1013): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	273	0.0037	-1020	c.21 others(11): Show c.2144_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
MMD2_chr7_4900998_4964187	4932620	GTGCATTT others(1013): Show GTGCATTTTTTTTTTTTTTTTGAGAAGGAGTTTTGCTCTGTCGCCCAGAC TGAAGTGCAGTGGCATGATCTCAGCTCACTGCAGCTTCCACCTCTTGGGT TCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTATCTGGGATTACAGGCAT GTGCCACCACCCCTGTCTAATTTTTGTATTTTTAGTAGAAACAGGGGGTC TCATCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAC CTGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGAGCCACCAGGCC TGGTCTCCGTGCTTTGCCTTTTCCAAAATGTCACCTATGTGGAGTCATAC AGTTTTACAGCCTTTTTTTTTTTTTATGTTTAAAGAGAATCTGTTGTATA AAGTTGAAAGTGAAAAGAAACTGTACTCTGAATGCCAAAAAGGGATTTAC TTGTTTTCTCTTAAAATGTATTGTGATCAGGCACGGCAGCTCACGCCTGT AATCCCAGCGCTTTGGGAGGCCGAGGCGAGAGGATCGCTTGAGACCAGCT TTGGCAACATAGCAAGACCCGGTCTCTACAAAATATTAAAAAATTACCTG GGTGTGGTGGCATGTGCCTGTCGTCCCAGCTGCTTGGGAGGCCGAGGCAA GAGGATCACTTGAGCCCAGGAGGTCAAGGCTACAGTGAGCCAAGATCGTG CCACTGCACTCCAGCCTGCATGGGAGAGCATGATTGTCTCAAAATAAAAC AAAATGTATTGAAGGTAAATTTGTTTTATACTAAAAGAAAATGGCCCCTC CTAAATGTAACGTTATCTTTCCTGGTAATTATTCTCGACTCTTCCATCCC TGTCTTTGCTCCTGCATCCCCTTTGCCATCTGGCTTTGTTGTTGGGCAGG GAGCATCTGAGATTCCTCCTCCCTGGTGTTGCACGTCCCTTCCTTTTTAT TGCTGAGCAGTATTGCTTTGCATGGACATACCAGAGTTTGTTCATTCATT CTCCAGTTGAGGGATAATAAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0147 a0001c0001t0015g0147	1	380	0.0026	-1020	c.48- others(15): Show c.48-8108_48-7089del	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
SMOC2_chr6_168436184_168672992	168593242	GGGCGTCT others(1013): Show GGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCT GAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCGTCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCT TCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCC TTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCT CCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCGCGGAGCTCC TCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	172	0.0058	-1020	c.638 others(17): Show c.638-5575_638-4556del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
UBR3_chr2_169822454_170089131	169960351	TCTTTATA others(1013): Show TCTTTATATCTATGTAAATATTCTGAAATCTGAAAAAAACTGAAATCTGA AACACTAATGGTCCCAAGCGTTTCAGATAAGGGATACTTAACCTGTACTG AAATTCTGTTTATGGAATTTATTTAGCATCAGTTGACTTTATCATATGAA AGAAGAGGGTTTAGTTTATTGACACTACTTTCCCTTTCTCTCTCTCTTCT TTACAAAAATTGATAATTATATTTTTGTTTTTTTACATGTTTAATATAAT TACAATATTTACGTATCGTTCTATTGTAGTAGTCAGTATCTTGATACCGC TTCATATAAAATGAACTAATAAGCACCCCATCCTTCCTTTCCTCTTTTAC CTCTTGCCTTTTTTCAGATACTTTTAAACTTTTAAATTGTCAAAGTTGCT GACATTTTGTTTTGCAGTCACATTAATGTCTTCCATATGAAGACATTAAA ACAATGAAGAGTTTGTATTAGTATGACTTTTTGAATGCTGTTGAGTACAA GACTAGATAATGTGCTACATAATGGTTCTACATCGACTGTTTTTGAGTCC AGTGGCTCAACTCCTGGACCCCTTCAAAGAGACTATCTTTAGTACGTAGC CTCTTTTCTTCCAGTCCCTTGATTGCTAAACCCATACCACCTCTTATTTG TTTCTATATGGACCATGACTTTGTTATGTTGCCTTTTGTTTTCCTTGAAG TTCCCCAACTGTCTTTTTAAAATTTTATTTTTAAAATTTTATTGTAGCAA GAACCAATGTGCCTTTATGATATCTCTATTATTCTATCTACTCAATCATA CAGTAGTCTTTTGCATGGAATTCTTTTCCAATGGACCAGTTCTTTTCCAA TCTGGTCCATTTGTTCTCCAGGCATGCCTTATAGCTATTACCTTAGGATT TTCCCCTTTTGGGATTGATAATAGAGATTCTTACATATTAACGTCATCTT TTTAAAAAATCTTATTTTATTGGGGTACCAATTCAAGTATATATATACAT TTTTTTTCTTTTTTAAGAGTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0225 a0001c0010t0011g0225	1	322	0.0031	-1020	c.363 others(19): Show c.3634+1826_3634+2845del	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	24/38			chr2	TogoVar
VPS53_chr17_503668_719839	645765	AGGCTCCC others(1013): Show AGGCTCCCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGT CTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCTTACACACA TCTCCGTGACCGCGTGGTCTCTGCCTGATAAGGGTCTTATCTTTTCTAAT TCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGT GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCATATCACGGACTG GAGACTGGCTCCCACACACATCTCGGTGACCGCGTGGCCTCTGCCTGATA AGGGTCTTATCTTTTCTAATTCATACCACGGACTGGAGACTGGCTCTTAC ACACATCTCGGTGACCGCGTGGCCTCTGCCTGATAAGGGTCTTATCTTTT CTAATTCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGAC CGTGTGGCCTCTGCCTGATAAGGGTCTTATCTTTTCTAATCCATACCACG GACTGGAGATCGGCTCCCACACACATCTCCATGACCGCGTGGCCTCTGCC TGATAAGGGTCTTATTTTTTCTAATCCATACTACGGACTGGAGATCGGCT CCCACACACATCTCCGTGACCGTGTGGCCACTGCCTCCTAAGGGTCTTAT CTTTTCTAATCCATACCACTGACTGGAGATTGGCTCCCACACACATCTCC GTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTA TCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCATGGCCA CTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGAT CGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGT CTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCACACACA TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT CCACACCACTGACTGGAGATC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01081.hp2 others(41): Show HG00423.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG03492.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0012 a0001c0001 a0001c0007 a0007c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(23): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0033 a0001c0001t0037 a0001c0001t0070 a0001c0001t0091 a0001c0001t0103 a0001c0001t0104 a0001c0001t0107 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0001c0007t0071 a0007c0012t0122	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(41): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0037g0126 a0001c0001t0070g0012 a0001c0001t0091g0129 a0001c0001t0103g0117 a0001c0001t0104g0212 a0001c0001t0107g0127 a0001c0001t0110g0122 a0001c0001t0111g0142 a0001c0001t0112g0138 a0001c0001t0113g0230 a0001c0001t0115g0144 a0001c0001t0116g0211 a0001c0001t0117g0143 a0001c0001t0119g0123 a0001c0001t0121g0132 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0024g0109 a0001c0007t0065g0104 a0001c0007t0071g0112 a0007c0012t0122g0140	44	200	0.2200	-1020	c.608 others(17): Show c.608+6506_608+7525del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ASTN2_chr9_116418112_117420057	116661454	AGGTTTAC others(1012): Show AGGTTTACAGCTAGGCACAAGGGGGGAAAATATGAATAACAATTTGTTTC AATCCTTGTGGTACTCAAGTGTAGAGACCTGATGGGACGTATTGGCTGGG AAGGAAAAAACAGAGATGGAGAAGGAGACGCTTAAGATATGGCAGAGAGA AAAGATAATTGATGGAGCAGGATCTTAAAGAAGACAGTAAGAGAAAAAAT TCCAAGGTGGTAATGGAATGGATGCGGTCTGAACTTCATATACATCTGGA TGTGAAATTCAGTTGGTCAAAACTAGGCATGCAACCAGGCCCTCTTTGTA TAGTTACACAAGTTGAGCTCTGTAAAAAGGTGACTCACTCATAGGTGGGA ATTGAACAATGAGAACACTTGGACACAGGAAGGGGAACATCACACACCGG GGCCTGTTGTGGGGTGCGGGGAGGGGAGAGGGATAAAATTAGGAAATATA CCTAATGTAAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATG TATACATATGTAACAAACCTGCACATTGTGTACATGTACCCTAGAACTTA AATTAAAAAAAAAAAGAAAAAAATATATATATATAAAAGGTGACAAGGCA AAAGGGTGGATGGGGACTAAATCCACCCTCAGCTTCACGTGCCATGCCTG TGCTCCTGCAATTGAGTACAAGTAGAGGAGCTCCTCTTCCTAATTCATAT AAGAGGTAACTTACAGGCTAGCCACAGCCCTGCATGTGACCATAGACAAG CTTCTTCCTCATAGTAGTCTCTGCTTTTTATGTATAAAATAGGCGAATAT CACCGACAATATAAAGTTGTTGAGATTTAAGATAACGGGCTGGGTGCAGT GGCTCATGCCTGTAATTCCAACACTTTGGGAGGCTAAGGTGGGCGGATCA CCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGT CTCCACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGTGGGCACCTGTAA TCCCAGATACTCGGGAGGCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0080 a0001c0025t0001g0080	1	100	0.0100	-1019	c.280 others(20): Show c.2807-10680_2807-9662del	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
CCDC200_chr17_43216420_43233623	43232604	ATTATATC others(1012): Show ATTATATCTGACTATTATTAATCATTAGTTTGTAGCATCACTCTTTGTTC TATTACCATAATGATCTCTGTTCTATTATGATTACCTTGGGGGAAACCAG GCCACACAGAGTTAGGAGCTGAAGGGCCACAGTGAGAGGTGACCAGAAGA CAAGAGTGTGAGCCCTCATTCACGCCCAGAGAAGGGCCGCTGGAGGGCTC CTTGGCCTAGCGGTAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCA GGCCTTGGTCTAGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTA GCAGAATTACTACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGG GAACGTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAG CGAAAACAAACACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGA GAACACATGGGACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGG GCGTGGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATG CGGGGCTTCAAACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTG GCACACGTGTACCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCA GAACTTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGG GGGGGAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCC ATTCCTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAG GACCTCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACG GTGGAAACGACAGCGTGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0063 a0005c0006t0001g0063	1	331	0.0030	-1019	c.-50 others(11): Show c.-5069_-4051del	CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding		3982		chr17	TogoVar
DDX51_chr12_132131594_132149319	132134931	CCCCGAGT others(1012): Show CCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCGCTCCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01361.hp2 HG03239.hp1 others(1): Show HG00323.hp1 HG01361.hp2 HG03239.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	329	0.0122	-1019	c.33 others(11): Show c.3322_*4340del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1662		chr12	TogoVar
GMDS_chr6_1618806_2250605	2207108	AAGAAGTC others(1012): Show AAGAAGTCTGATGGTAGCCAGTCAAGAACTGCTGATTACGGGGTCAACAA TAATCAATGACCTAGGTAGCCTCCTTCTATATCTGGCTTCTACCCTCAAG TTTATGTCACCAATGAAAACTGCTGCTGGAGCTCCAGACATCACATCCAT GTACCAAGAAACAGAAAAGCAGAAGGTAAAGGCACAGGGGACATGTCTCC CAACTCTCAACTTCCTTTAAGCAGGCTTTCCAGAAGTTCCACAAAGCACT GTCACTTATGTTCATTGGCCAGAATTGAATCACAGTCACATTTACTGCTA AGGAAGCTGGAAAATGTCATCATTTAATTAAGCTCAGTGTTCACCCCAAA TAATATAGGGATTGTATTTTTAAGGAGGAAGTGAAGACTAACTGGTTGTC CATGCCACAATGACAACAAACTACTGAGCTTATAACATTAGAGTTTAGAA TTGTAATCAAACTTACAAAATCTGTATTGGATTCAAATTGCCCATTAACT TGTCTGCATTGTTCCTAGGACGGTTTTGTTCCTAGCACCTAGCAGATGCT CAGTAAATATTTGTTGAAGGAATGAATACTACCCCTAAGAGCAATTCGCC TATTGTTACGTAAAAATAAAAGTGATTCTCATTTTAGATCACCCCTTCCC CTCTGGAAATTACAGTCCTGCCCATTTGAAGTTTCTGCAGGGAAGACTGT AAGGTTAACATGGCCACAGGCAATTTTCTTAATAACTAAGGGACACAGTA AATTCCTCTCAACAGGAAAATATTGAGAAGATTTCTCTAAAACAGGATCT TGAGAACCAAGAAATTAAGCATATATATGTTTGCCAAGTTAGTAGCTTTT TCCAGGCATATGAAAAACCCAGTCAGGAAAGATGAGGTGGAAAAGGCAGA CAGGTATTCCCTTCCCAGATTAGAAAAGTTTTACTTATAAGGTCATGAAA ACATAAGCTTTACTCTGTTAGGATTAGGTGAAGCTGTGCATAAGTTAGAA CCCAACACACATCATGTAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 HG02615.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0077 a0001c0002t0002g0078 a0001c0001t0001g0077 a0001c0002t0002g0078	2	164	0.0122	-1019	c.102 others(19): Show c.102+37194_102+38212del	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
MCEE_chr2_71104687_71135229	71125328	CCTCCCGA others(1012): Show CCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACATGCCCGGCTAATGT TGTATTTTTAGTAGAGATGGGGTTTCGCCTCATTGGCCAGGCTGGTCTCG AACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGATAGG ATTAGAGATGTGAGCCACTGTGCCCACCCTAATTTTTGCATTTTTAGTAG AGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCA GGTGATCCACCCACCTCGGTCTCCCAAAGTGCTGGGATTATAGGTGTAAG CCACCATTCCAGTCAGTTTTTAGCATTTTTAAAATTCACTGTCGCTGTGT CCTCATCAGATAGTTTCTTGATCTCCACAGATAACTCTGCATTCCATTCA TTTAGCAAACAGTCATTGCATGTCATTAACAACAAGAATGGCCTGAATTT ACTGTGCACCTACTGTCTGGCACTGTATTTATTTTTTTACACCAACTATC TAATATTCACAACAAACCAAGTTAGAAACTTAGTAAGTTTCATTGTTATC ATGAAATCCAAGTGGATTACAACCGAGTACACATATACATAAATGTACAA TTGAAACTAAATTGCAAAAAAAGAATACCTTCCACCTCAGCCTCCTGAGT AGCTGGAACCATAGGCATGAGCCACCATGCCTGGCTAATTTTTGTACGTT TTGTAGAGATGGGGTTTCACCATGTTGCCCAGGCTGCCCATGTTGCTCCT GGGCTCAAGCGATCCTCCGACCTTGGCTTCCCAAAGTGCTGGGACTACAG ATGTGAGTCACAGCACTAGGCCAGTGAAAATGTTTTGAAATAGACAAATG TGATAGTTGCACTAACCCAGTGAATGTAATAATTACTGTTAAACTGTACT TTATTATTTATTTATTTTGAGACGAACTCTTGCTCTTTCACCCAGGCTGG AGTGCAATAGTGTGATCTCGGCTCACTGCAACCTCCACCTTCCGGGTTCA AGCGATTCTCCTGCCTCAGT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19088.hp1 NA18975.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	416	0.0048	-1019	c.41- others(14): Show c.41-1804_41-786del	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
SGSM3_chr22_40365594_40415289	40398219	GGCCTCCC others(1012): Show GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGGGCCCAGCCTG TCATCTGATTCTCTAATGTAAGGGTCAGGACTTTTTCCCCCACTGTTGTG TCCCAGCTCTTAGAAGCTGCCTGGCTCTTAGGGGTGCTCAGTCCCCATTT GCTGATGAATGAATGAGTGGGAGGACAGCCAAGATCAGGAAAGGGGAGGG ACTCCTGAGTGGGCCTTCCCAGCCCCTTCAGGCCTCCACAGCCAGATGTA GCTGATTTCTCTGCTACAAGCAGCCTGCAGGTGCTCTGTCACACTTTTAC TCTGCCCTTTCAGAACCACCAACCAAACCCCTGCCTCTGGGGCCGATGGT GATGAGGAGTCTTTCTCATGCTCTCAACTGGGACATGTTATGTGGAACCA TACACAGTTGTCATTTTTCTAGGCTGTAATGGATGAATATCGGCAATTTA ATATGGTTCAACATAGTTTTTAGTATACCTCAATGAGGAGGGTCCATATA TTAACAATAACTTTCTAAAAATTTTTAGGACTACTAATTGCCTGATACTT ATTGAGTACTTATATGTGTCAGGCAGTGTGCTAAAGGCCTTATTTGCATC AGCTCACGTAATCCTCATAACCACAGTAAGGCATAGGTATTATTATTCCA TTCTATCGAAAAGAAAACTGATACAGACGTGAAGTAAACTTGCCCACGGT TATAACAAGTGGGCACAGGCCCACTCTGCTACACGAGTAGCAGAGCTAGG ATTGGACTGGAGATGTCTTTACTTTTTTTTTTTGAGACAGAGTCTCACTC TGTCACCCAGGCTGGAGGGCAGTGGTGCGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCTCAAGTAGCTGC GATTACAGGGATGCATCACCATGCCTGGCTAATTTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCATGGTGGCCAAGCTGGTCTCAAACTCCTGGCCT CAAGTGATCCGCCCACCTCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00558.hp1 others(84): Show HG00280.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19030.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0006 others(4): Show a0001c0001 a0001c0002 a0002c0006 a0005c0012 a0006c0011 a0007c0009 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0002c0006t0002 a0005c0012t0002 a0006c0011t0002 a0007c0009t0002 a0008c0015t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(77): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0144 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0056 a0001c0001t0002g0126 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0007g0044 a0001c0001t0008g0045 a0001c0001t0010g0152 a0001c0002t0002g0153 a0001c0002t0002g0211 a0002c0006t0002g0213 a0005c0012t0002g0020 a0006c0011t0002g0195 a0007c0009t0002g0006 a0008c0015t0002g0142	87	290	0.3000	-1019	c.-11 others(19): Show c.-111-2438_-111-1420del	SGSM3	ENSG00000100359.21	transcript	ENST00000248929.14	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNTG2_chr2_945849_1372613	1343723	CTTTTCCC others(1012): Show CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCT GTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTC ACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTC GCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA GCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAG GAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCT CTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGC AGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCAC GCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTT TAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCC CTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTC TCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGAC TGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02922.hp1 NA18990.hp2 HG01346.hp2 HG02922.hp1 NA18990.hp2	a0003 a0008 a0003 a0008	a0003c0007 a0008c0011 a0008c0031 a0003c0007 a0008c0011 a0008c0031	a0003c0007t0001 a0008c0011t0001 a0008c0031t0001 a0003c0007t0001 a0008c0011t0001 a0008c0031t0001	a0003c0007t0001g0019 a0008c0011t0001g0004 a0008c0031t0001g0117 a0003c0007t0001g0019 a0008c0011t0001g0004 a0008c0031t0001g0117	3	187	0.0160	-1019	c.148 others(21): Show c.1489-23616_1489-22598del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344067	CCCCCTGT others(1012): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGC CCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTG GGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCT GGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGG GACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACT TTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGT TCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGC ACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	188	0.0053	-1019	c.148 others(21): Show c.1489-23158_1489-22140del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TSPAN9_chr12_3072379_3291559	3197818	TCACCACC others(1012): Show TCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACC ACCAGCACAGGTCACCACCAGCACAGGTCACACCAGCACAGGTCACCACC AGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCAC AGGCCACCACCAGCACAGGTCACCATCAGCACAGGCCACCACCAGCACAG GTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCAC CACCAGCACAGGTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAG CACAGGTCACCACCAGCACAGGTCACCACCAGCACAGCTCACCACCAGCA CAGGCCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACC ATCAGCACAGGCCACCACCAGCACAGCTCACCGTACCAGCACAGGCCACC ACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACACC AGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAGC ACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCACAGG TCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCACCACC AGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAG CACAGCTCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCA CAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAG CTCACCACCAGCACAGGTCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0093 a0001c0003t0033g0093	1	286	0.0035	-1019	c.-17 others(17): Show c.-17-3353_-17-2335del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
FSTL5_chr4_161378897_162169000	161706984	TAACTCTT others(1011): Show TAACTCTTCTTAAATTACCATTACTTTTATTCAGACTGTAGTTAGAGTTA CAATATAATTTATTTTACTGTGTACCTGTTGTAATGCACTTATTTCAGAA AAAAATCTAAACCAAACACAAATTTGTTTTTTTCTGTAAATTAATGTTTT CAGAGAAAAACATCTTTCTAGAAATACAAATTGTTTATAATTTGTATAAA CAATTGCATTAAGAATTACATGGTAGCATTCACTTTTAAAACAAAATATT TAATTTTCACGGATCAGGAGAACATTGTTTGAAATGAAATTTAAATATAG TTTCTTGGACAAATTCCTATTATAGAAACAAGATATGCACTATTGAGAAA CTATGTTGATGCAATTAATGCCTATTTTGTTATTTATAAAATGTAAAAAT TAGCATGATGCTGTTATTAGAAAATAAATATGCTGCAAAGAGAAAGTATG ATAAAACTTTGAAATCATGCATCATATATTATGCTACAAATGTCTTTATG CCATAAAATTTGTTACGGCATAAAGACGGAGGATGCACTGCATATAATAC TTCTATATAAGTTAACAAAGCTTACTAATGAAAATGAAGGCATTTAACAT GTCTATTCTAACATTTTTCTTCCAATTTTTTCACGAAATCTTGCTATTTT AGTATTATTCTGCCAAATGTATTGATATACACAAATACTTAATTTGCTAG GACATTTTCCTCTTATTTTGCAATTTAATTTTTGTTACAAAATGGTAAAC AATCATAACTAATCATCTTTTAATGGTGATACACAATACAGGGTATATAA TGAATACAGAAGAAAACAAAACTAACAGAATTTGGTCTCTGGATAATGTG TTCATTTCATTGATATTTGGGATTTAAATCTGATAATATTAAAACAGACA AACCAACCAAAAAAGGAGCAAAGCATTAGAAATTAAGAGATACTCATTTT CCCCCACAAAATACCTTCCACATTTTATAAAGGCATTGCTTATCAGTTAT AGACATTGAATGACTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 HG02615.hp1 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0021 a0005c0007t0001 a0001c0002t0021 a0005c0007t0001	a0001c0002t0021g0138 a0005c0007t0001g0094 a0001c0002t0021g0138 a0005c0007t0001g0094	2	140	0.0143	-1018	c.727 others(19): Show c.727+51409_728-50491del	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	6/15			chr4	TogoVar
HIP1_chr7_75528298_75743941	75585276	CCAGGTTC others(1011): Show CCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGACGTGAGCTAATTTCTTTTTGTATTTTTAGTAGAGACGGAGTTTTGCC ATGTTGGCCAGGCTGGTCTTGAACTCCAGACCTCAGACGATCCGCCCGCC TTGGCCTCCTGAAATGCTGGGATGACAGGCGTGAGCCACTGCGCCCAACC CCAAAACATCTTAAATCCAGTTCTCACCTTTCCCCGCCTCCTCATGACAC CTTTACCAGAGCCCGGTCCTCCCTCCAATCACACGCTACAAGCCCCCTCC CCTCCACACTCTCAGCCTCTCCCTCCTGCTTCTTCGCCTTGCAATCCAGC CCAAGGGCAGCCCGACTCCCCGCCTCAGCCTCTGACACCCTGGCCTGGCC CAGCCTCAGTTCTGGTTTACGTTGCCTCCTATGTGCCCACCCCTCTGCCT GATCCCCGTTGTCTCCCACAGTTGCCAGACCCCTGTACACCCCGCAGCTG CTCGCCTCCCCCACCTCACACTATCCATTGTGTCACCTTCTTCTCTCTTT TTTCTGTGAAACAGGGCCTCACTCTGTTGCCCAGGCGGGAGGGCAGTGAT GCGATCATAGCTCACTGCATCCTTGACTTCCCAGGCTCAAGGTATCCTCC CACCTCAGCCTCCCGAGTAGCTGGGACTACAGTTGCACACTACCACGCCC GGCTAATTTTTAAATTTTTTTGTAGAGACAGGATCTTGCTATGGCCCAGG CTGGTCTCAAACTCCTGGTCTTAAGCGATCCTCCAGCCTCGACCTCCCAT AATGCTCAGATTACAGGCATGAGCCACTGTGCCCAGCCAGGAATTGTTTT TATTAACAGTAAAATCAATGCTTCTGTAACATTTTCATAAGGCAATATAG TGCCTAGGGTTACTCTTTCTTTTTTTTGTTTTTTTTTTTGAGACAGAGTC TCATTTTGTCTCCCAGGCTGGAGTGCAGTGGCATGGTTTTGGCTCACTGC AACCTCTGCCTCCTGGTCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0017 a0003c0006t0004g0017	1	252	0.0040	-1018	c.465 others(16): Show c.465+459_465+1476del	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	5/30			chr7	TogoVar
PCDH11X_chrX_91774375_92628230	92495748	CTTACATG others(1011): Show CTTACATGGCAGCAGCAAGAGAAAATGAGGAAGATGCAAAAGCGGAAACC CTTGATAAAGCCATCAGATCTCGTGAGACTTACTCACTACCACAAGAGCG GTATGGGGGAAACTGCCCACATGATTCAAATTATCTCCCACCGAGTCCCT CCCACAACACATGGAAATTATGGGAATACAATTCAAAATGAGATTTGTGT GGGGAGACAGAACCAAATCATATCAACCACGATCAAAATACTGAACATAT TTATTATTCCTAGAAATTTTTTCATTTTCCCAGTACCTACTGCATTGACT ACCATTTTAGATTTTATCAGTTAATTGGTAAATATGTATTGACTGAAATA ACTTTCTTTGGCAATATAATTCTGTAGTATATATAAAGTAGGGGTTCATT GTCTATGATATAGATGAGATTGGATTTAATGCTTGAAAACATGCAATTTA TATGAGAATCTTTAAAAATTAGGAAGTATAAGAGACAAAATATCAATTTC TTTCTCCTACATTTAAGAACAGGTAGTCTCTTCAAAATCCCAGAAGTTGA GCCTTAGCTGAGGTTTAGTGTTTTCTAAACAGGCTTAAAATGGAAGTTGT TTAATTATATAATAATTATGCAAGGAAAAATGTGGTGATGAAGATTAAAC AACTCTTTTATGTAGGCCATCTAGGAATTAATCGTTGGAGGAAAAGTAAC TCTTAGGTTTTAGAGCATCGATTAGTAAGCTACAGGTGTATCATTCCTAG CAGCTAGCAAATAGGTGAAGGTGGTTGCACAAGCCTTTTTTCAGAGATGT ATATCCTTTGACTTTGGGACTACTATTAAATATGCCCACACAGAAAGCAT TCCATGAGGACGACAATGGATTATGGAATATGGCAAAACCAAAATTATGT TAATGTAGAAACCAAAGTAATTCCACCTTTCTGGGGACAAGCCCAGATAT GTAAACATACTGCTTATCTATCTACATTTATCTTTCACTATGAGTCCCTA AAATGTTATACCGCAGGTA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02895.hp1 others(5): Show HG02145.hp1 HG02615.hp1 HG02895.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001	a0001c0001t0002g0001 a0001c0001t0006g0021 a0001c0001t0007g0017 others(5): Show a0001c0001t0002g0001 a0001c0001t0006g0021 a0001c0001t0007g0017 a0001c0001t0024g0058 a0001c0002t0002g0007 a0001c0002t0006g0006 a0001c0002t0008g0008 a0001c0003t0001g0151	8	154	0.0519	-1018	c.336 others(21): Show c.3367+27428_3367+28445del	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHMP2B_chr3_87222309_87260556	87256474	ATTTGAAT others(1010): Show ATTTGAATGCCTTTAGAGAAAACCTGGTACTCTCTTTTCCGCCAAAATGT GCATTTCCTACCATCCTAGTTGCCATACTTCTCACCTGATCTCTGTGGGC CTAATTGAAATATGTACTCTTATTTTAGACACTCCTCTGTTAAAACAGGT GTTTTAACATGTTAAAACAGACCAGGTTTTCCTGGTCTCAAAAGAGACCT GTGATGACTTGTCCCTTTGATGCCATTACTGTGCATGAAAAGGTTTTGGC AACTTCAGAAATACAGATCAACTTTCCAGTTTCCTCTCTGTAGAAGCTGA GGGTTCAAAACCATTCTAAGCTTAGTTGTTTTAGTAGTCAATTGGATTGA TGTTGCCTTAGAGGAAGCCTGAAGATTGTGAAGCCTGATTTCAGGTGTCC TACTGTTGGAACACCACATTCCCCCAACAGCTTGAAAATACACCCCCCCC GCCGCCATCCCCAAACACTGAAAATATTTCTCTGACTACACAAATCCTTT CCACCTTTAGAGATGGAAAGGTAAATTGTATGAATGAGTTTATCAGCCAC CTTTACTAGGTAAAGTTGAATGTACCAAACTAGTAGAAATGACAAACATC TTTCTTCCATTTTAATGGACAAATCTACTGAATTCCTGAAGACTTAAAGA GTTCACAAATATGTAAGAGGGAAAGACTATGGCTACAGTCAGCCTTTGTC ATTTATTCCCCAAAGTATGAACATATCAGTCTACACAGTGAATTGTATGT CATTTGTTTAATTGAGGTTTAGGATTCTAAATGGCATTAACCATTTTCTA TTGTTTTGAAGATTAATCAAAATAAAGCATTATTTTAATGTAGTTAGAAA GTAGTCTCAATATAAATGAGTTTTGTATAATACAAAACATTAATACAAAT GAGTTACTGGTATTTACTGGCCGGGGAGGCCTCAGGAAACTTACAATCAT GGTGGAAGGTACCTCTTTGCAGGGCGGCAGGAGAGAGAATGAGAGCCCAG CTAAGGGGAAAGCCCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02109.hp2 others(4): Show HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0009 a0002c0004t0004 a0002c0004t0009	a0002c0004t0004g0025 a0002c0004t0004g0116 a0002c0004t0004g0117 others(2): Show a0002c0004t0004g0025 a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0009g0118 a0002c0004t0009g0119	7	412	0.0170	-1017	c.26 others(11): Show c.2653_*3669del	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		919		chr3	TogoVar
POU1F1_chr3_87254404_87281584	87256474	ATTTGAAT others(1010): Show ATTTGAATGCCTTTAGAGAAAACCTGGTACTCTCTTTTCCGCCAAAATGT GCATTTCCTACCATCCTAGTTGCCATACTTCTCACCTGATCTCTGTGGGC CTAATTGAAATATGTACTCTTATTTTAGACACTCCTCTGTTAAAACAGGT GTTTTAACATGTTAAAACAGACCAGGTTTTCCTGGTCTCAAAAGAGACCT GTGATGACTTGTCCCTTTGATGCCATTACTGTGCATGAAAAGGTTTTGGC AACTTCAGAAATACAGATCAACTTTCCAGTTTCCTCTCTGTAGAAGCTGA GGGTTCAAAACCATTCTAAGCTTAGTTGTTTTAGTAGTCAATTGGATTGA TGTTGCCTTAGAGGAAGCCTGAAGATTGTGAAGCCTGATTTCAGGTGTCC TACTGTTGGAACACCACATTCCCCCAACAGCTTGAAAATACACCCCCCCC GCCGCCATCCCCAAACACTGAAAATATTTCTCTGACTACACAAATCCTTT CCACCTTTAGAGATGGAAAGGTAAATTGTATGAATGAGTTTATCAGCCAC CTTTACTAGGTAAAGTTGAATGTACCAAACTAGTAGAAATGACAAACATC TTTCTTCCATTTTAATGGACAAATCTACTGAATTCCTGAAGACTTAAAGA GTTCACAAATATGTAAGAGGGAAAGACTATGGCTACAGTCAGCCTTTGTC ATTTATTCCCCAAAGTATGAACATATCAGTCTACACAGTGAATTGTATGT CATTTGTTTAATTGAGGTTTAGGATTCTAAATGGCATTAACCATTTTCTA TTGTTTTGAAGATTAATCAAAATAAAGCATTATTTTAATGTAGTTAGAAA GTAGTCTCAATATAAATGAGTTTTGTATAATACAAAACATTAATACAAAT GAGTTACTGGTATTTACTGGCCGGGGAGGCCTCAGGAAACTTACAATCAT GGTGGAAGGTACCTCTTTGCAGGGCGGCAGGAGAGAGAATGAGAGCCCAG CTAAGGGGAAAGCCCCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02109.hp1 others(4): Show HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0037 a0001c0001t0006g0064 a0001c0001t0006g0096 others(3): Show a0001c0001t0006g0037 a0001c0001t0006g0064 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0100 a0001c0001t0010g0098	7	418	0.0167	-1017	c.24 others(11): Show c.2403_*3419del	POU1F1	ENSG00000064835.12	transcript	ENST00000350375.7	protein_coding		2929		chr3	TogoVar
RASSF3_chr12_64605495_64702564	64623682	ACCCAGGC others(1010): Show ACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCTTCTGCT TCCCAGGTTCAAGAAATTCTCATGCCTCAGCTTCCCGAGTAGCTGGGATT GCCAGCACCCGCCACCATGCCTGGCTAATTTTTATTTTTATTTTTTTAGT AGAGAGAGAGTTTCACCGTGTTGGCCAGACTGGCCTCAAACTTCTGGCCT CAACCGATCTGCCCGCCTCTGCCTCCCAAAGTGTTGGGATTACAGGGGTG AGCCACCATGTCCGGCCATATTTCTGTTTTAGAATTGCTTTCTTGCTTTT CCTCTGACCAGATTTGGTCACGTGAAACTGTCAATTAGCATGAATGAGGT GCTGCTGCCATGCAGGGGTTTGATCCTTGGCTGTCATGTTGATGGTCTCT GTATCCAAATTAGTATTTGTGAAATTTGGGGGAAGAGAATTTGGGCTTAT TGTGTAGCGGAACGAGTACGTTTCATAAAGGCAAACCTAGCACCGATATC AACAAATCCACTTACAATCCATTCCTAAAGGAGGAAGCTCTGTTACAGTT TTAAAATTAACATTACAATGCATCTTGCTTGTTTGAGGTGAGGGCTTAAA ACTCAGTAATGAAAAAGAGGGAGAACTATAGGCTAAAAGGGTGTGTGTTC TTAATTGATTAATTGCAAGCAGCTATGTAGGGCACCCTGTGTTTAAATCA GTGCTAGCTGTATTATCTTGAGCAAGTCATTGTACCTCTTTGTTTTTTTA ATTTATTTTTATTTTTTACATTTTTAAGAGACAGGGTCTCACTATGTTGC TCAGTTTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCT CCCAAAGCGCTGGTATTACAGGTATGGGCCATCACGCCTGGCAAATCGTT GTACCTCTTTGAGCCTCAGTTTCCTCATTTGTAAACTAGTAGGATGCCTG GAAGTTCATAAGCATTAATAAATGTTAGCAATAGTTATTATTTCTTGAGA CGGAGTCTTGCTCTGTTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 NA19240.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080	a0001c0001t0078g0361 a0001c0001t0079g0360 a0001c0001t0080g0368 a0001c0001t0078g0361 a0001c0001t0079g0360 a0001c0001t0080g0368	3	368	0.0082	-1017	c.111 others(19): Show c.111+12961_111+13977del	RASSF3	ENSG00000153179.14	transcript	ENST00000542104.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
SNTG2_chr2_945849_1372613	1343615	CCCCTGTT others(1010): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTT TTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCA CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0097 a0003c0026t0001g0097	1	182	0.0055	-1017	c.148 others(21): Show c.1489-23724_1489-22708del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
AQR_chr15_34846782_34974742	34904642	CCCTCCAC others(1009): Show CCCTCCACTCACCCACTTCAAATTCTAAGATGCTGAAAGTATTTTCTTCT TTCTCTAAATTCTTACTATTTCCTTCCATAGCAGTCATGTAATGTTTACG ATGCAACACCATGACTTGCAATAATTTGTACACACACTCAACTAAAATAG GAGTACTTAGAAGTCAAAGAACTTATCTTTACTTTTGTCACTCATAGCTC CCACTACTGCCTTACATATAGTAAGTATTCAATAAATATTTTCTAATTAA ATATATGTATTTTAGAATTTAAGGCATAGTTTTCTATTCATTAATTCCTT AATTTGACAGAGGTTCATCACTTTTCTCATCCTTCCACATTCCATACCTA GTATAACCAGCATGAAAAGAAATTTCACATACACAGAAATGTAGGATACT AATGGTTGAAAGCCCAGAGCCTTTTCTTTCCTCTCTGACATATCTCCTCT TTTTTGGGGGGGGTGGGGGGAAGGGGGGGTCTTAGACCTCGAACTTTGGT TCCATTATGTGGCCTTATGCTTATTCCATCCATTTTCCATTCCCTTCTCC TATTTCCTCTCATTCTAGAGATAAATAACTTAATCATCAGCAGTTTAGCA ATGATATAATCTCTAAACCACAGATAGCATAAACTGACTAAAGTTTCAAA AGAAGTACAACAACCAAATTGTAAAATAAGCACTAGACATGTATGCAGTT GTAATTTAATAATAAGTATTATAAAGGAAGTCAGGACAACAGAAGAAAGA ATTTCAAAGGGATAATAAGTGATACACATAAGAAATCAAATAACTGACTA ATTTTGTAAAGCAGTGTTTTTAAATGCGGTAAAGTTGGCATCTTATGCAG GATAATTCCTTCTTTTATTTCTGTTCAGATGTTTAGCATCCTTGGCTCAC AGTTACCTAATGCCAAGAGCCTGCCATTCCTCACCTCTATCCCGGTCATT TGAAAACCTAAATATCACTATGCATTTTCAAACGCAGGACAGTATTGTTC CCAATTAAGAACCACCA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp2 HG02257.hp1 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0177 a0001c0008t0018g0178 a0001c0008t0018g0177 a0001c0008t0018g0178	2	310	0.0065	-1016	c.183 others(17): Show c.1831+887_1832-138del	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	18/34			chr15	TogoVar
CNN2_chr19_1021608_1044065	1033970	CGGTGTCT others(1009): Show CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACG GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACGGTAA GCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20752.hp2 HG01168.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0007 a0001c0001t0001 a0001c0005t0007	a0001c0001t0001g0091 a0001c0005t0007g0099 a0001c0001t0001g0091 a0001c0005t0007g0099	2	388	0.0052	-1016	c.390 others(17): Show c.390+1275_391-1144del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
LUC7L_chr16_183990_234449	186152	GGGGAACA others(1009): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02717.hp1 HG02886.hp2 others(1): Show HG00544.hp1 HG02717.hp1 HG02886.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0324	4	324	0.0123	-1016	c.20 others(11): Show c.2030_*3045del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2837		chr16	TogoVar
MAP2K5_chr15_67537703_67812114	67575983	GATCTCGG others(1009): Show GATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGTCT CAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCACCACGCCTGGCTA ATTTTTATATTTTTAGTAGAGACAGGATTTAACCATGTTGGCCAGGCTGG TCTTGAACTCCTGATCTCAGGTGATCTGCCTGCCTTGGCCTTCCAAAGTG CTGGGATTACAGGCATGAGCCACTGCTTCCATCCTTCTCTCTTTCTTAAT AGAAAATTTGTGCCTCATAAACTTAAACTGTGCTGTTTTGGAACTCAAGT TTTTTAAAAAATATGGCAGATTTCCATGAAGAAAAAAATGTAATTATTGA TTGAATTGTGCCATTAGCATTAGAATTAGATTTATAACAAATATGAACAC TGTAGTAAACTTGCAAACAAAACAAAGCAAAAAATTGTACTTGTTATCCC CTTGTTGAATCTGGCCCTCTGTTTCAAATTAATTAGATTTTTGGTAACTA TGCTAAACTTTGTCACATCCTTATTAAAATGACTGAAGAATTTTGAAGAA CAGCTCAGAGGGACTCTGAAACTAATCTGAGTCTAGTACTGGAGATTCCA TTAGCAATTGCAAAGCTGATTGATCTTTTACCCAGTTAGCTTATTGATTA TCGCTGCAGTTACTGCATGTAACGGATTATGCAAGGGGTAACAGGAGAAA ACATATTTTATAATTGCTGCTGATGTATTCAGTTTGGACACAATATTTCA TACTCTATATAATTATTTCTGCATTTTTAAATGCTGCAACACTTCTAAGA TAGAAAGTTTGCTTAATATTGTTTCAATATGAGGAGGTGTACTTTTAAAT TTCTTAACTAATAATGCATTACAGTTTACCAAGTGCCTTCACTAATTTTA TTGCTGCAGTTTAATTTTTGAGCCTCACAGTAACCCTATATATATATTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00558.hp1 others(45): Show HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp2 HG01074.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02818.hp1 HG02965.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18948.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18988.hp2 NA19001.hp1 NA19004.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0066 a0001c0001t0004g0229 a0001c0001t0004g0230 others(45): Show a0001c0001t0004g0066 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0008g0261 a0001c0001t0008g0262	48	276	0.1739	-1016	c.253 others(17): Show c.253-4753_253-3738del	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF516_chr18_76352682_76500242	76393751	CGGGTGGT others(1009): Show CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0042 a0002c0013t0042	a0002c0013t0042g0186 a0002c0013t0042g0187 a0002c0013t0042g0186 a0002c0013t0042g0187	2	343	0.0058	-1016	c.181 others(21): Show c.1811-14464_1811-13449del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACER1_chr19_6301142_6338612	6330473	GCTAGTTT others(1008): Show GCTAGTTTTTAAATTTTGTGTAGGGACTGGGTCTTGCTATGTTGCTTAGG CTGGTCTTGAACTTCTGGCCTCAAGTGATCCTCCTGTCTCGACCTTCCAA AGTACTAGGATTAAAGGTGAGAGCCACCATACCCAGCCTCTCAGTGCCTT CTGCAAGGGCTCTCATCTGGGTGCAGGATGAAAACAGAACACTGGACCAC AGTGGCTGCTGGGGATTCCAGAGAGAAGAGCTCTAGAGCCCTTACCCATC ATCTCAGCCTCGTAGGACCAATCATTCAGCTCCCTCCCATGTTAGAGGTG GGACTACTGAGGACCGGGAACCATATCTCTGGCTAAGGAAGAGCAAGAAT CAGTGAGACCGTGAGGATCCTGGAGTCTCATAATCCCACTTCCCAGGTAT GGGAAGCCCCGGGGTGAAAGGCAACAGGGTCAGAGCAACCTGAGCCTCGG ACTCTCCTCCCAGAAAAGTCTCCTGGACTCACCAAGTTTAAATCCTGGCT CTAATAACCAGGGTGACCCTGGGCACAGCCTTCAAACTCCTTGAACACCT GTTTTATCACCTGGAAAATGGGATGAAGTCTGTATCATATAGATTGCATC TAACTCCCCATGTCACTGTGCAGATTAAAGGAGGTGTTTCACGTAAAATG TTTAGGGTCATGCCTGGTACACAGCAAGCACTTTTTTTTTTTTTTTGAGA TGAGGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGACACAATCTTGGCT CACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTTAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCGGCACCATGCCTGGCTAATTTTTT GTATTTTTAGCACAGACGGCATTTCACCACGTTGGCCAGGATGGTCTTGA CCTCTTGACCTCATGATCCACCCCCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATAGCACCCAGCCAGCAAGCACTCTTCTGCTCACTGA GCAAGGCCTATGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01433.hp2 HG02451.hp1 others(12): Show HG01358.hp2 HG01433.hp2 HG02451.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0004t0001g0378 a0001c0004t0001g0379 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0382 a0001c0004t0001g0383 a0001c0004t0001g0384 a0001c0004t0001g0385 a0001c0004t0001g0386 a0001c0004t0001g0387 a0001c0004t0001g0388	15	394	0.0381	-1015	c.93+ others(15): Show c.93+1971_93+2985del	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ITSN1_chr21_33637501_33904861	33652044	CTAAAAGC others(1008): Show CTAAAAGCCTACCAAGATCTTACCATCCAGTGATAATGACTGTTAATACC CTGTGAAGGTCAACATGCTCAAATTACCCAGCAGGTGCCTGGTGTGAAGC TACTTAGCCCGGGAGAGTTGAAGGCCTGTTAGGGACCACGAGCACTGAAG GTGGCAGGACGGTCCAGGGCCAGTCAACCCAGACCTTTGTGGTTCTGGGA GGATGCGTCCTGGTGTTACTACACCTTATAGTTATTTAGGAGAATGTGGG TTTAATATGAAATCTTCTGATTTTTATGTGGGCCACACTTTTTATTGTTA ACACACTGGGGTTCAAAGCATACCTGAGGGCTGGATTCAGTCTTCGTTGC CTTGCCAGTTTGTAGCCTCAGGTACGTACAGTTTTGTAGCCTGTGTTTTT CACTTAATGTGTTGTATTTGCAGCCTTTTTTGCTACATCGTCATATATGT AATCAGTCACTTATTGCTGGACCTATAGATTCTTTGTCTTTTTGCTTTTT AATAAAGATAGGTAAAATTCTTGGACCAAAAGTTGTTTGTAAAGCCTTTG CAGCATACCGCTCTCAGATGCATTCCCCCTATCATGTAAAAGGTACTTGT TTCCTGTTCTCTTACCAGGACTGGGTAAAACCATCTCCAAAAACATCTTA GCCAATTTTATTTGTTTTAACTTGCATTATTTTCTGTATTACCAATGAGT GTGAATGATTATTAAATGCCTATTGGCCTTACACAAATTTATTTGGTAAC CAACTTGTCTTGCTGGAACTCTAAGTTCCAGCAATGTTTTGGTCTTGCAT TCAATGCTTCTCAGTCTTTGTGATTCCAGATAATATTAGTACTGTGTTAG TAGCAATAATTAGTACTAATTGTAGGCATCGTTCCCCAAAACTGAGGGCA TCAGTATCTTTGGCACAACTATAATCCACTTAAAGTACTGTGACTGGGAA GTTCTTTTTTTTTTTTTTTTTGACAGAGTCGTGTTTTGTTGCCCAGGCTG GAGCGCAGTGGCACAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG06807.hp2 NA19043.hp2 HG02818.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0027 a0001c0002 a0001c0027	a0001c0002t0013 a0001c0002t0069 a0001c0027t0010 a0001c0002t0013 a0001c0002t0069 a0001c0027t0010	a0001c0002t0013g0241 a0001c0002t0069g0242 a0001c0027t0010g0240 a0001c0002t0013g0241 a0001c0002t0069g0242 a0001c0027t0010g0240	3	240	0.0125	-1015	c.-33 others(18): Show c.-33+9333_-33+10347del	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
UBE2K_chr4_39693136_39787792	39711180	TGAGACGG others(1008): Show TGAGACGGAGTCTCACTTTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATC TCGGCTCACTGCAAGCTCTGCCTCCCGGGGTCATGCCATTCTCCTGCCTC AGCCTCCCGAGTATCTGGGACTACAGGCGCCCGCCACCAAGCCCAGCTAA TTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCGTGTTAGCCTGGATGG TCTCGATCTCCTGACTTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GAGATTACAGGTGTGAGCCACCGCGCCCGGCAGCATTATTTTTTAAAGAT CTGTGATAGTGCATGTTGTGCTAGTTCTTTAATACAGACTATATTGTATT CCATGTCAGTTTTTAAAGTTTATTTCCCTATTGATGGCATTTAATTCCAA CTTTTAGATAAAAGGATGTACTGGACATTTTTATAATTTTTTGGGGAACA TGTAAGAGTTTTTCTAGGAAGTAGATTTGTAAGACCTGAGCGTATTTTCA GCTTCTGCCTGACTGGACATTGCTTCACTGTTCTCCAGATGATTGAATCA ATTTACATTCCCACTAAAAGAGTTCTGCCCGGGAGAGGTGGCTTACTCCT GTAATCCCAGCACTTTAGGAGGCAAAGGCGGGCGGATCACCTGAGGTCAG GAGTTCCAGACCAGCCTGAACACCATGGAGAAACCTCGTCTCTCTACTAA AAATACAAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGCT ACTTGGGAGGCTGAGGTGGGAGAATTGCTTGAACTGGGGAGGCAGAGGTT GCATTAAGCCGAGATTGCGCCATTGCATTCCATCCTGGGCAAGAGAGGGA GACTCTGTCTCAAAAAAAAATAGTCACTATTTTTTGTAAGACTATCTCAG GAAAAAAAGAGGAAGGGAAAAAAAAAACGTAGTTACTTGAAACCGCCCCC CCTTTTTTTTTTGGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGC AATAGCACCGACAACC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	334	0.0030	-1015	c.63+ others(17): Show c.63+12791_63+13805del	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6			chr4	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235036	GAAGCCTC others(1008): Show GAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCA ACCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAACCTCTGATGGACGG TGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCA CTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATG GACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGC CTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTC TGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGC CAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCA GCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGG TGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCA CTCCAGCCTCTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATG GACGGTGGGCCAAGCCTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGT CTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTC TGATGGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGATGGTGGGC CAAGCCTCCACTCCAGTCTCTGATGGACGGTGGGCCAAGTCTCCACTCCA GCCTCTGATGGACAGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGG TGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCA TTCCAGCCTCTGATGGACGGTGGGCCAAGTCTCCACTCCAGCCTCTGATG GATGGTGGGCCAAGCCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGC CTCCACTCCAGCCTCTGATTGACCGTGGGCCAAGCCTCCACTCCAACCTC TGATGGACGGTGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	311	0.0032	-1015	c.-12 others(20): Show c.-127-10878_-127-9864del	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049197	GGAACACA others(1007): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACATAT GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGG GCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGG AATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATG GGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACAC ATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGG CAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGA ACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGG GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAG AGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGG AATACATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGA GGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	297	0.0034	-1014	c.45 others(11): Show c.4520_*5533del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2906		chr8	TogoVar
ATP5F1A_chr18_46075248_46103296	46096714	GCTCATGC others(1007): Show GCTCATGCTTGTAATCCCAGCACTTCAGAAGGCCGAGGCGAGCGGATCAC CTGACGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGTGAAACCCCGTC TCTACGAAAAACTACAAAAAGTAGCAGGGCATGACGGCGGGTGCCTGTAA TCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACTTGATCCTGGGAGG CGGTGGTTGCAGTGGGCGGAGATCACGCCATTGCAATCCAGCCTGGGCGA CTGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAAAAAAAACAAGCAA ACAAAAACTGAATAAATGCTAGAGTTAGATTAGAAACCAAGAGTTGTGGC ATGTGGACTTATTTTACTCTCTCAACAAATCCTGCAGCCACCTGGAACTT CCTTCAGTTTCTCCTTCAAGTTGTAATACTGCGACTGGTCACTGTCAATT CTGAAGCCTCTACCTTCCATAGGAGCTAGATGAAAACCGTTAAAAATGCT TTTTTGTTAACAGAAACCCAAGATGCTACCAGCGGTTGTTAAGGCAGCAA AACAGCCAACATGTTTATTTCACCTTTCAAATTGAGATTACTTTTAGAAC AAAAAAAAAGTGTCAGTGTCAATGCGTTTACACTGAAATCATGTTAATTT CAAGGGAAACAAATAACGAAGGGTATTAATCCTTACAGCCATTTTCCAAC CTTGTTCTCTTTTACTTGAATTCTCCATCACTAAAAATTACTCAAAACCA GGTGGAAAACTCAAGGACAAATTCTTTAAACACGTCCAAGTGCCACAAAG CACACACTCTGCCGGAGAGACAATTTAGAAACCAGCTTCACTGTTGTCAC AGTGCTGGCCACATGAAATGGTTCTTTGCACCTGCAGGACGTTTTCACGG TCGTTTCGTATTCAGCACTAAGAGAAAGCCTACGTAAGTATTCCAAAAAC CACCTTCATTTATTCCTTTCCTCTAAACTGAGCTCCAGGCAGAGGTGAAA TGCTGGGCCTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 NA18940.hp1 others(4): Show HG00544.hp2 HG00597.hp2 NA18940.hp1 NA18949.hp1 NA18997.hp1 NA19074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 a0001c0001t0087	a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 others(3): Show a0001c0001t0002g0034 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0022g0123 a0001c0001t0023g0124 a0001c0001t0087g0127	7	388	0.0180	-1014	c.60+ others(14): Show c.60+444_60+1457del	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ZBTB45_chr19_58508530_58524810	58523796	GAGTAGCT others(1007): Show GAGTAGCTGGGACTACAGGCGCCCGCCACCAGGCCCCGCTAATTTTTTTG TATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATATGGACTCC ATCTTTAAAAATATATATATATAGAAAAATTAGCTGGGCGTGGTAGCAGG GGCCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGAAGAATCCCTTGAA CCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAG CCTGGGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGGGCTTGGGACG GTGGCTTATGCCTGTCATCTCAGGACTTTGGGAGGCTGAGGTGGGCAGAT CACCTGAGATCAGGAGTTCCAGCCTAGCCAACATGGCAAAACCCCGTCTC CACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGGTGGGCCCCTATAA TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATACCTTGAACCCGGGAGG CGGTTGTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCGA CAAGAGCAAGACTCCGTCTCAAAATAATAATAATAATAATAAAAAGAATG TGTATATATATGTGTGTGTGTGTGTGTGTGTGTTCATATATGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGAACCCAAAGACCTTAACC CTGGTTGTGGGGGCATTTCAAGGAATAAATGTGTACCTGAGAACACAGGT TTGACAAGCTAGGGAGGAGGGCGATGTGGCCTGCAAATATTAAAAACTCC AGGCTAGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGT GGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TGGCGTGAACCTGGG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18969.hp1 NA18950.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	408	0.0049	-1014	c.-50 others(11): Show c.-5069_-4056del	ZBTB45	ENSG00000119574.13	transcript	ENST00000594051.6	protein_coding		3987		chr19	TogoVar
FAM78A_chr9_131253078_131281510	131261970	TAATCCCA others(1006): Show TAATCCCAGCACTTTGGGAGGCTGAGGCAGGCTGATCACTTGAGGTTAGG AGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAA TACAAAAATTCACTTTGGGAGGCCAAGGGGGGCGGATCATGAGGTCAGGA GTTTGAGAACACCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAAA AATAGAAAAAATTAGTCAGGCATGGTGACATGCGCCTGTAGTCCCAGCTA CTCAGGAGGCTGAGGCAGGAGACAGAGGTTGCAGTGAGCCGAGATCACGC CATGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCCAAAAAAAAA AAAAAAAAATTAGCGGGGTACGGTAGCAGATGCCTCTAATCCTGTAATCA GGAGGCTGAGGCAGAAGAATTGCTTGAACCTGGGAGGCTGGGTTTGCGGT GAGCTGAGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGTGAGACTC TGTCTGCAAAAAAAAAAAAAAAGCACTCCCAACTGGACGCAGTGGCTCAC ACCTCTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCCAACACAGTGAGA CCCTACCTCTAAAAAAAAATGCATTCCTGTTCCTAGAATTAATCACAATA GCCAAAAGGCAGAAGCGATCCAAGTGTCCAACGACAGATAAATGGATAAA CAAAATGTGCTACATACGTACAATGGAATGTTCTTCAGCCTTAAGAAGGA AGGATGTTCCAACACAGGCTACAACACAGATCAACCTTGAGGACGTTATG TTGAGTGAAATAAGCCAGCCACAAAAAAACACAAACTGTGTGATTCTACT TATGTGAAGTCCCTAGTGTTGTCAAATTCATAGAGACAGAAAGTAGAATG GAGGTTGCCAGGGGCTGGGAGAAAGAGGAACGGAAAGTTGATATTTCTTG GGGACGAAGTTTCAGTTTTGCAGATGAAAAGAGTTCTGGGCTGGGCGCAG TGGCTCACACCTGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	2	416	0.0048	-1013	c.324 others(16): Show c.324-1633_324-621del	FAM78A	ENSG00000126882.14	transcript	ENST00000372271.4	protein_coding	1/1			chr9	TogoVar
TPO_chr2_1408463_1548673	1531907	CTCAAATC others(1006): Show CTCAAATCACCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACTGCGAG CAACCTCCTCAAATCTCCCCACTGTGTGCAACCTCCCAAAATCTCCCCTA TTGTGTGCAACGTCCTCAAATCCCCTCACTGTGTGCAACCTCCCCAAATA CCCCCCACTGTGTGCACCTTCCTCAAGTCCCCCACTGTGTGCAACCCCCA CAAATCCCCCCACTGTGCGCAACCTCCTCTAATCCCCTCACTGTGTGCAA CCTACACAAATGCCCCCCACAGTGCGCAACCTCCTCAAATCCCCCACCAC TGTGAGCAACCTCCTCAAATCCCCCCACTGCCTGCAACCTCCTCAAATCC CCCCACTGTGTGCAACCTCCTCAAGTCCCCCACTGTGTGCAACCCCCACA AAACTCCCACTGTGCGCAACCTCCTCTAATCCCCTGTGTGCAACCTCCAC AAATACCCCCCACAGTGCGCAACCTCCTCAAATCCCCCACCACTGTGAGC AACCTCCCCAAATCCCCCCACTGTGAGTAACCTCCTGCAATTGCCCCGCA CTGTGCAACCTCCTCAAATCCCCCCCACAGTGCAAAACCTCCTCAAAACC CCCGCCACTCTGAGCAACCTCCTCAAATACCCCACTGTCAGCAACCTCCT CAAATCCCCCCAACTGTGTGCGACCTCCCCAAATCCCCCCCACAGTGTGC AATCTCCACAAATCCCCCCCCACTCTGTACAACCTCCCCAAACCCCCCCA ACTGTGTACAACTTCCTCACAACCACCCACTCTGTGCAACCTCCCCAAAT CCCCCACTGTGAGCAACCTTCCCAAATCCCCCCACTGTGTGCAATCTCCC CATATCCCCCCACTGTGAGCAACCTCCCCAAATCCCCCACACTATGTGCA ACCTCCTCAAATCCCCCCACTCTGCACAATCTCCCCAAATCCCCCCCACT CTGCGCAACCTCCTCAAATACCCCCAGTTTGCAACCTCCCAAAATCTCCC TATGTGCAACCTCG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp2 others(14): Show HG01069.hp2 HG01071.hp2 HG01167.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19088.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0002c0015 others(4): Show a0001c0001 a0002c0002 a0002c0015 a0006c0026 a0008c0011 a0008c0016 a0008c0028	a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 others(5): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0006 a0002c0015t0003 a0006c0026t0003 a0008c0011t0006 a0008c0016t0003 a0008c0028t0003	a0001c0001t0003g0081 a0001c0001t0003g0128 a0002c0002t0003g0056 others(14): Show a0001c0001t0003g0081 a0001c0001t0003g0128 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0078 a0002c0002t0003g0095 a0002c0002t0006g0026 a0002c0015t0003g0110 a0006c0026t0003g0052 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0028t0003g0003	17	128	0.1328	-1013	c.261 others(19): Show c.2619-8686_2619-7674del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
ZNF143_chr11_9456012_9533524	9504239	TTGAGCCA others(1006): Show TTGAGCCACCACACCTGGCCAAAGCATCTTTTTATGTATTTATTAGCCAT GTGTATATCTTCTTTGGAGAAATGTCTATTCAAATCCTTTGCCCGTTTTT AAAATTGGGTTGTGTCTTTATTACTGAGTTGTATAACTTTAATTCGAGAG ACTTGAATCCAAGTCTCTTATTAGATATATTAGTTACAGATATTTTCTTC CATTCTGTGGCTGGTTTTTTAATTCTCTTAATGATATTTGCAGTATAGAA GCTTTTAATTTTAATGCTCCATTTTGTGGATGTATTTTTGGTGGGTGAGA ATGGAAAGGCAAATGTGAGCGTAAGGCAGGATATGCATTAGTTTTATAAG AAAAATTTTAATATATTGTTTTATTACTGGTATTAAGAGTAAACTTGTGT TAATTCAAAATTAAAAGACATTTTTTTCTTTTTTCTTTTTTTTTTTTTTT TTTTGAGACAGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGTG ATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGC TAATTTTTATACTTTTAATAGAGACGGGATTTCACCATGTTGGCCATGAC AGTCTCAATCTCTTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGTGTGAGCCACCACGCCCAGCCTCTTTTTTTTTTTTTT TTTAAGATGGAGTCACGCCCTGTCACCCAGGCTGGAGTGCAATGGCACGA TCTAGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCC TCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATACCACCATGCCCAGCT AATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATG GTCTCCATCTCCTGACGTTGTGATCCACCCACCTTGGCCTCCCAAAGTGC TAGGATTACAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp1 others(86): Show HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19066.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(86): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0250 a0001c0001t0001g0320 a0001c0001t0001g0321 a0004c0005t0001g0054 a0004c0005t0001g0073	89	330	0.2697	-1013	c.114 others(19): Show c.1147+2980_1148-3357del	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZNF143_chr11_9456012_9533524	9504250	CACCTGGC others(1006): Show CACCTGGCCAAAGCATCTTTTTATGTATTTATTAGCCATGTGTATATCTT CTTTGGAGAAATGTCTATTCAAATCCTTTGCCCGTTTTTAAAATTGGGTT GTGTCTTTATTACTGAGTTGTATAACTTTAATTCGAGAGACTTGAATCCA AGTCTCTTATTAGATATATTAGTTACAGATATTTTCTTCCATTCTGTGGC TGGTTTTTTAATTCTCTTAATGATATTTGCAGTATAGAAGCTTTTAATTT TAATGCTCCATTTTGTGGATGTATTTTTGGTGGGTGAGAATGGAAAGGCA AATGTGAGCGTAAGGCAGGATATGCATTAGTTTTATAAGAAAAATTTTAA TATATTGTTTTATTACTGGTATTAAGAGTAAACTTGTGTTAATTCAAAAT TAAAAGACATTTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTGAGACAG CGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCA CTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCAGCTAATTTTTATA CTTTTAATAGAGACGGGATTTCACCATGTTGGCCATGACAGTCTCAATCT CTTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACCACGCCCAGCCTCTTTTTTTTTTTTTTTTTAAGATGGA GTCACGCCCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTAGGCTCAC TGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCGCATACCACCATGCCCAGCTAATTTTTGTAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTC CTGACGTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTAGGATTACAG GCGTGAGCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG03139.hp1 HG00639.hp2 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039	3	330	0.0091	-1013	c.114 others(19): Show c.1147+2981_1148-3356del	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	11/15			chr11	TogoVar
DOC2B_chr17_137789_186650	170846	GCAGCACC others(1005): Show GCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACC AGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGC TGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCA CCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCGGGCCAGGT TGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAG GGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCA GAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGG GCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGA GGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGC CGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGG GGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGG AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0002t0002 a0001c0002t0003 a0001c0002t0019 a0001c0002t0026 a0001c0002t0028 a0001c0002t0029 a0001c0003t0002 a0001c0004t0001 a0001c0004t0006 a0001c0009t0001 a0001c0010t0048 a0003c0008t0011	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(230): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0005g0001 a0001c0001t0005g0054 a0001c0001t0005g0099 a0001c0001t0005g0107 a0001c0001t0005g0210 a0001c0001t0005g0213 a0001c0001t0006g0280 a0001c0001t0007g0288 a0001c0001t0008g0047 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0010g0098 a0001c0001t0010g0150 a0001c0001t0010g0223 a0001c0001t0010g0225 a0001c0001t0011g0232 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0013g0055 a0001c0001t0013g0105 a0001c0001t0013g0169 a0001c0001t0014g0089 a0001c0001t0014g0149 a0001c0001t0014g0168 a0001c0001t0015g0194 a0001c0001t0015g0267 a0001c0001t0015g0268 a0001c0001t0017g0028 a0001c0001t0017g0042 a0001c0001t0017g0043 a0001c0001t0018g0293 a0001c0001t0018g0294 a0001c0001t0021g0191 a0001c0001t0021g0206 a0001c0001t0022g0104 a0001c0001t0022g0183 a0001c0001t0025g0292 a0001c0001t0027g0051 a0001c0001t0030g0152 a0001c0001t0032g0243 a0001c0001t0033g0170 a0001c0001t0039g0222 a0001c0001t0040g0126 a0001c0001t0041g0056 a0001c0001t0042g0275 a0001c0001t0043g0276 a0001c0001t0044g0035 a0001c0001t0045g0114 a0001c0001t0046g0148 a0001c0001t0047g0230 a0001c0001t0050g0212 a0001c0001t0052g0115 a0001c0001t0053g0250 a0001c0001t0055g0141 a0001c0001t0056g0142 a0001c0001t0057g0207 a0001c0001t0058g0030 a0001c0001t0059g0122 a0001c0001t0060g0123 a0001c0001t0062g0135 a0001c0002t0002g0235 a0001c0002t0002g0246 a0001c0002t0003g0291 a0001c0002t0019g0038 a0001c0002t0019g0039 a0001c0002t0026g0040 a0001c0002t0028g0265 a0001c0002t0029g0037 a0001c0003t0002g0295 a0001c0003t0002g0296 a0001c0003t0002g0297 a0001c0003t0002g0298 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0004t0001g0303 a0001c0004t0006g0301 a0001c0004t0006g0302 a0001c0004t0006g0304 a0001c0004t0006g0305 a0001c0009t0001g0174 a0001c0010t0048g0231 a0003c0008t0011g0229	262	338	0.7751	-1012	c.453 others(16): Show c.453+679_453+1690del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
FAM149A_chr4_186099704_186180337	186173611	CCTCCCAA others(1005): Show CCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTCCGCGCCTGGCCAGCT GACTCCATTTCTATAGCAATGAGACACATTAGGCAGCAGCAGCAGCAGCA GCAGCAGCGACCACCAGGTCCATGCCTCTTTTCCGTGGTCACAGCTCCAT GTGTCCGGGGAAGATTGCTAATGCTTAGTTTCCTGCACAAAGCAAACCAA AGCATTTTTGAGAATTTTCTACATTATTCCTAAACATTAGCAATAGAAAC TTTTAAGAGCAAATGCCAGTCTTAATTCAGCAGCTCTCCCACTTGAGGAA TAGTTAGATATGTGAGTAGCCTGGAGCCCATGTTATAGGGCTGCTGGTTA GGTGCTCTCTGGTGCATCATTACTGCTCAAAGCATGACCCACTTGCTCTT TCAGATCCACTCAGGGTATTTTATGTCCATTTCCAGGAACCATCCAACTC CTTCCCTATTCAGTCCAAACTTCCTTTTTTTTTTTTTTTACTTGAAGTTC AGGGGTACATGTGCAGGTTGTTACATAGGTAAACTTGTGTCGTGGGAGTT TGTTGTACAGATTATCACCCAGGTATTAAGCCTAGTATCCATTAGTTATT TTTCCTGATCCTCTCCCTCCTTCCACCCTCCACCCTTTGATAGGCCCTAG TGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCTCATCATTTAGCTCCCAC TTAGAAGTGAGAACGGATGGCATTTGTTTTTCTGTTTCTGCATTAGTTTG CTAAGGATAATGACTTCCAGCTCCAGCCATGCCTCTGCAAAGGACATAAT CTCATTCTTTTTTATGAGCTCAAGCTTCGTAGTAGGGAAAACACCGGATA TTCAGTCTAAACTAACATTAAGGTAGGGTATCCAAGATAAAATGTTTTTT CTTTGAAAACCACTGAATATACTTTATGGTAGCTTTACCTTGTTTGGCTC CAGAGGTTTGCAAATAAGAATCTATTATTTATATATATATATTGGTAAAA GACAAAATATTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG02004.hp2 HG00673.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0052 a0001c0014t0042 a0001c0001t0052 a0001c0014t0042	a0001c0001t0052g0043 a0001c0014t0042g0005 a0001c0001t0052g0043 a0001c0014t0042g0005	2	291	0.0069	-1012	c.16 others(11): Show c.1625_*2636del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14	1625		chr4	TogoVar
FNTA_chr8_43051323_43090785	43065499	AGCCTCCC others(1005): Show AGCCTCCCAAAGTACTGGGATTATAGGCGTGAGCCACTGTGCACGGCTGC TGACCCACATTTAATAGTATAATGACATTCCCTCTAACAGTGTCATTTTT GTTTTCTTTGTACCAATAGGTAATTTGTCGTCCAGATGCTCTGCTATATG TGAAGTATCATTTTTCTATTGAACACAGGTCATCCTTCAGTTTCATTTTT CTCTTCACCAATTGGATGCTGCATACCTGGTTTTCAGCTCATTCATGTGT TAGATCCCCTGTGTCCTAGATCGTATACCTTTCTCTTTCTTGATTTACTT TCTCATTTTATAGAGCACATCATTGAGTAGAAAGATGGAAAATAATTTTT GGGATTTATACAATTAAAAATCATTAGTCTCCCTTCAACTTTAGTAATAA AATTGTAGATTGGAAATTATTTTCCCTCAGAATTTTAAAACTCTTTTTCT GTTTCTCTTAGCTTCTTTTCAGGTTGAGAAGATTTCCATTCCTTTGTTTA AAACTTTTCTTTTTCTCTTTATGTTCTGGGGATTTTTCTGGGTTCTTCTG ATAATTTCTTCTCTTTCCTCTGTTTTCTTTTTCTGGAATGCCTTTTAGTT CTATGTTGTATCTCCTCAATTTTTCTTATTTTCATTTGTTTATCTTTTTA TTTTCTTTTGAGATAATTTCATCAATTTTATTTTCTAACTCTCGTATGGA TTTTTAAAGATTTCTGCATTCATTTTTAATTTGGGGGAGCTGTTTTTTTG TTCTGTGAATATGCTTTTTTTTTTTTGAGACAGAGTCTCGCTCAGTTGCC CAGGCTGGAGTGCAGTGGCTCGATCTCTGCTCACTGCAAGCTCTGCCTCC TGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACG GACGCCTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTTTAGTAGAGA TGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA TCCGCCCGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG01884.hp2 others(6): Show HG01192.hp2 HG01884.hp1 HG01884.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0174 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0091 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0002g0080	9	292	0.0308	-1012	c.401 others(17): Show c.401+1297_401+2308del	FNTA	ENSG00000168522.13	transcript	ENST00000302279.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(1005): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC TGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0166 a0001c0001t0020g0166	1	262	0.0038	-1012	c.970 others(19): Show c.970-21767_970-20756del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCL26_chr7_75764538_75777211	75764767	CAGGCAGG others(1004): Show CAGGCAGGAAGTCCTGGAGAATTAATACTCACCCCTGCCCCACCACATCA ACCATCAGCCAATGACTGCCTGGAGTTGGTGTATAAATACCCTTGCTCGG CCGGGCGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGG CGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACACAGTG AAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCAGGAGTGGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAT ACCCTTGCTCCCTGGCCCCGTGGGTGGGGCTAACTCTGAGACGTGGGTTA TACATCATTGCCCAGAGCTCCTCAACACCGTTAAGCACTGTAGGCCACAT TGATGCCTCGCTTGATAATACACACTTATTGGAGGCTTTCCCTTTTCTGT CTCACGTCCCCACGCCCTAGTGGTGTCTCCTGAGATCACCTTCAAAACAT TACATGCAAATTATTATCTTAAGGTTTATTTCTGGGGAAACAACATCTAA AACATCATCCAAGACCTGAGATAAAAAATTAAGAAGATTGGACTTTGAGC AGTAAGTGCTTCCTAAATGCCAAGTACTAACAGCCAATAGCTGTCATGAA TGATTTTGTATTTTTACAATGTAAATGTAAATAAGAATCGCTTGAACCTA GGAGGCAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTG GGCAACAGAATGAGACTACATCTTAAAAAAAAAAAAAAACCGGGTCCGGT GGCTCATGCCTACAATCTCAGCACTTTGGTTTGGGAGGCCAAGGCGGGTG GATCACCTGAGGTCAGGAGTTTGAGACCAGCATGACCAACGCGGTGAAAT CCCGTCTCTACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00280.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	-1011	c.39 others(11): Show c.3915_*4925del	CCL26	ENSG00000006606.9	transcript	ENST00000005180.9	protein_coding		4770		chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241805443	TCCCTCCC others(1004): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCT AGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	310	0.0032	-1011	c.12 others(11): Show c.1278_*2288del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1157		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805443	TCCCTCCC others(1004): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCT AGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC CTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	316	0.0032	-1011	c.-38 others(11): Show c.-3834_-2824del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3749		chr2	TogoVar

Search by Variant

Search

Search Results