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
GPR158_chr10_25170001_25607229	25203596	CTGTTCCA others(418): Show CTGTTCCATTGGTGTATATCTGTGTTTTGGTACCAGTACCATGCTGTTTT TGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCT CCAGCTTTGTTCTTTTGGCTTAGGATTGTCTTGGTAATGCAGGCTCTTTT TTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTTTCAAATTCTGTGAAG AAAGTCATTGGTAGCTTGATGGGGATGGCACTGAATCTATAAATTACCTT GGGCAGTTTGGCCATTTTCACAATATTGATTCTTCCTATCCATGAGCATG GAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCATTGAGCAGTGGT TTGTACTTCTCCTTGAAGAGGGCCTTCACGTCCCTTGTAAGTGGGATTCC TAGGTATTTTATTCTTTTTAGCAATT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp1 others(48): Show HG00323.hp1 HG00323.hp2 HG00642.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18940.hp2 NA18954.hp2 NA18956.hp2 NA18961.hp2 NA18968.hp1 NA18973.hp2 NA18978.hp1 NA18986.hp1 NA18988.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0010 others(8): Show a0001c0001 a0002c0002 a0002c0010 a0002c0018 a0003c0003 a0003c0019 a0004c0004 a0005c0005 a0006c0006 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0012 a0002c0010t0001 a0002c0018t0020 a0003c0003t0002 a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 a0003c0019t0003 a0004c0004t0002 a0004c0004t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0006 a0005c0005t0018 a0006c0006t0001 a0006c0006t0002 a0007c0009t0002 a0007c0009t0003 a0008c0008t0003	a0001c0001t0001g0117 a0001c0001t0001g0156 a0001c0001t0002g0023 others(48): Show a0001c0001t0001g0117 a0001c0001t0001g0156 a0001c0001t0002g0023 a0001c0001t0002g0118 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0004g0119 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0007g0141 a0001c0001t0022g0138 a0001c0001t0023g0128 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0158 a0002c0002t0003g0142 a0002c0002t0012g0140 a0002c0010t0001g0153 a0002c0018t0020g0157 a0003c0003t0002g0005 a0003c0003t0003g0131 a0003c0003t0003g0133 a0003c0003t0003g0147 a0003c0003t0009g0127 a0003c0003t0009g0145 a0003c0003t0011g0006 a0003c0019t0003g0120 a0004c0004t0002g0012 a0004c0004t0003g0121 a0004c0004t0003g0139 a0004c0004t0003g0143 a0004c0004t0003g0144 a0005c0005t0001g0073 a0005c0005t0001g0150 a0005c0005t0002g0151 a0005c0005t0006g0071 a0005c0005t0018g0072 a0006c0006t0001g0075 a0006c0006t0001g0077 a0006c0006t0002g0074 a0006c0006t0002g0076 a0007c0009t0002g0122 a0007c0009t0003g0134 a0008c0008t0003g0123 a0008c0008t0003g0146 a0008c0008t0003g0148	51	160	0.3188	-425	c.903 others(19): Show c.903-17455_903-17031del	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	1/10			chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(418): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19240.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0326 a0001c0001t0001g0257 a0001c0001t0001g0326	2	274	0.0073	-425	c.27 others(11): Show c.2739_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
OTUD7A_chr15_31470398_31875673	31511173	GTATATCT others(418): Show GTATATCTATATGTAACACACATATGTATATCTATATGTAACACACATAC ATATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAAC ACACATACATATGTATATCTATATGTAACACACATATATATGTATATCTA TATGTAACACACATATATATGTATATCTATATGTAACACACATATATATG TATATCTATATGTAACACATATATATGTATATCTATATGTAACACACACA TATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAA CACACACATATATGTATATCTATATGTAACACACACATATATGTATATCT ATATGTAACACACACATATATGTATATCTATATGTAACACACACATATAT GTATATCTATATGTAACACACACATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0211 a0001c0006t0049g0211	1	244	0.0041	-425	c.894 others(17): Show c.894-7780_894-7356del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PIEZO1_chr16_88710338_88790220	88728515	CCACAGCC others(418): Show CCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTG ACCCTCGATGTTGGGGAACCCAGGACATGCTGATCTCACAGCCCCATCTG CCACAGAGGGAACCTCGCGACACAAAAACAAAGTGACCCTCGATGCTGGG GAACCCAGGACATTCTGAACTCACAGCCCCATCTGCCACAGAGGGAACCT CGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCCAGGACATGC TGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACA AAGTGACCCTCCATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCC ATCTGCCACAGAGGGAACCTTGCGACACAAAAACAAAGTGACCCTCCATG CTGGGGAACCCAGGACATGCTGAACT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp2 HG02723.hp1 others(4): Show HG01081.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG03139.hp2 HG03516.hp1	a0008 a0061 a0008 a0061	a0008c0013 a0008c0063 a0008c0125 others(1): Show a0008c0013 a0008c0063 a0008c0125 a0061c0128	a0008c0013t0005 a0008c0063t0004 a0008c0125t0004 others(1): Show a0008c0013t0005 a0008c0063t0004 a0008c0125t0004 a0061c0128t0015	a0008c0013t0005g0006 a0008c0013t0005g0007 a0008c0013t0005g0008 others(4): Show a0008c0013t0005g0006 a0008c0013t0005g0007 a0008c0013t0005g0008 a0008c0013t0005g0009 a0008c0063t0004g0115 a0008c0125t0004g0270 a0061c0128t0015g0032	7	190	0.0368	-425	c.319 others(18): Show c.3197-1279_3197-855del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PKP3_chr11_389209_409908	390478	CGTCCTGA others(418): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGA CCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCC CTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCC CGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGC GCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGC CTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGG CCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGAC GCCCCCTTCCCCAGAGGAGCGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	82	0.0122	-425	c.-38 others(11): Show c.-3814_-3390del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PPP2R3B_chrX_328933_391907	339721	GTGAGAGG others(418): Show GTGAGAGGGGAGGAGCCGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGT GAGAGGGGAGGAGCCGGGGGGGGTGAGAAGGGAGGAGCCGGAGGGGGTGA GAGGGGAGGAGCCGGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGA GAGGGGAGGAGCCGGGGGGGGGTGAGAGGGGAGGAGCTGGGGGGGGTGAG AGGGGAGGAGCCGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGTGAGAGGG GAGGAGCCGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAG GAGATGGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGA GATGGGGGGGTGAGAGGGGAGGAGATGGGGGGGGTGAGAGGGGAGGAGAT GGGGGGGGCGAGAGGGGGGGAGGAGC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0012 a0006c0005t0003g0012	1	24	0.0417	-425	c.135 others(17): Show c.1351+619_1352-826del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PTK2_chr8_140652900_141006282	140812989	CAAACATA others(418): Show CAAACATATTCATGATTTGAATTCAACATTGGATCAAATGGACCTGACAG ACATCTATAGAACTCTCCACCCCAAAGCAACAAAATACACATTCATCTCA TCACCATACGGCACATACTCTAAAATCAATTATATAATTGAACACAAAAC ACCGTTTAGCAAATGCAAAAGAACTGAAATCATAATAACCATTCCCTCAG AGCACAGCATGGCCAAATTAGAAATCATGACTAAGAAATTTGCCCAAAAC CACACAATTATATGGAAATTGAATAAACTGCTCCCGAATGACTTTTGGGT AAATAATGAAATTAAGGCAGAAATCAAGAAGTGCTTTGAAATGAATGAGA ACCAAGACACAATGTACCAGAATCTCTGGGACACAGGTAAGGCAGTGTAA AGAGGTAAATTTGTAGTACTCAGCAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	288	0.0035	-425	c.867 others(17): Show c.867+4863_867+5287del	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	10/35			chr8	TogoVar
RASA3_chr13_113972783_114137623	114006848	TCCCCACT others(418): Show TCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCC CTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCAC CTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTC CCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCT GCCGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCAC CTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCC CACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGC CGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTA CCCTTCTCCCCCCTCCTGCCCTGCCG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	47	0.0213	-425	c.174 others(17): Show c.1742+260_1742+684del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
SCUBE1_chr22_43192280_43348372	43280983	TCCTCAGT others(418): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCAC CCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCT CCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCT GTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTC ACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGT CACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCAT CTCCTCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19083.hp2 HG02071.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0100 a0002c0002t0002g0027 a0002c0002t0002g0100	2	215	0.0093	-425	c.484 others(18): Show c.484+9638_484+10062del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
TRIM46_chr1_155168849_155189970	155188810	CCGGCCTG others(418): Show CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGTGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGACTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGGCCGGCCTGGTGTCCGGTGC CGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGAGCCGGTCTGT TGTCCGGGGCCGAGGTGACACCGTGTGCTGGAGTGTCGGTGGAGCCCGAG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACTGTGAGCTGGGCTGCGGGC GCGGTGGAGCCCGGGGCCGGCCTGCTCTCTGTTTTAAATATACACCGTGG GCTGCGGGCGCGGTGGAGCCCGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03453.hp1 NA21309.hp1 HG01081.hp2 HG03453.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0002t0001g0073 a0001c0001t0001g0042 a0001c0001t0001g0072 a0001c0002t0001g0073	3	346	0.0087	-425	c.46 others(11): Show c.4621_*5045del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		3841		chr1	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(417): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGC CTGGACAGTTGCGAAGTCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02965.hp1 others(1): Show HG02559.hp1 HG02615.hp2 HG02965.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0030 a0001c0002t0016 a0001c0001t0004 a0001c0001t0030 a0001c0002t0016	a0001c0001t0004g0182 a0001c0001t0004g0334 a0001c0001t0030g0310 others(1): Show a0001c0001t0004g0182 a0001c0001t0004g0334 a0001c0001t0030g0310 a0001c0002t0016g0341	4	191	0.0209	-424	c.735 others(15): Show c.735-814_735-391del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1235795	CACACTGG others(417): Show CACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCT GTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCA GTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCT GAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGG CCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACG GCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCA GCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGT GAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGA ACGAACATGCCTGCATTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02083.hp2 HG02080.hp1 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0041 a0002c0002t0005 a0002c0002t0041	a0002c0002t0005g0012 a0002c0002t0041g0074 a0002c0002t0005g0012 a0002c0002t0041g0074	2	106	0.0189	-424	c.136 others(19): Show c.1362-2374_1362-1951del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALG12_chr22_49895229_49923438	49908358	TCTCTACT others(417): Show TCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTA ATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAG TTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGA CAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAA AAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTC CATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAAT GCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAG CCTGACCAACATGGTAAAACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(56): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG01074.hp2 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01515.hp1 HG01891.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18990.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19067.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0002 a0001c0005 a0007c0014 others(1): Show a0001c0002 a0001c0005 a0007c0014 a0008c0017	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(13): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0015 a0001c0002t0029 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0065 a0001c0005t0013 a0001c0005t0019 a0001c0005t0020 a0001c0005t0032 a0007c0014t0013 a0008c0017t0007	a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(37): Show a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0080 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0007g0008 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0083 a0001c0002t0008g0009 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0077 a0001c0002t0008g0084 a0001c0002t0015g0023 a0001c0002t0015g0082 a0001c0002t0029g0070 a0001c0002t0031g0074 a0001c0002t0033g0069 a0001c0002t0034g0075 a0001c0002t0035g0081 a0001c0002t0065g0099 a0001c0005t0013g0085 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0019g0024 a0001c0005t0020g0025 a0001c0005t0032g0088 a0007c0014t0013g0089 a0008c0017t0007g0079	59	346	0.1705	-424	c.768 others(15): Show c.768+462_769-415del	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	6/9			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1429704	TTTTGCCA others(417): Show TTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTC AGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0241 a0001c0001t0068g0241	1	358	0.0028	-424	c.92- others(15): Show c.92-6332_92-5909del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C7orf50_chr7_992006_1143247	1128575	GCGATCTC others(417): Show GCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCA TCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCA TCGCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	279	0.0036	-424	c.-1- others(15): Show c.-1-1613_-1-1190del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128642	GTCACCCG others(417): Show GTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCA CCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACC CGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCG GGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGG CTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGG AGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAG TGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTG CAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGT GGCGCCATCTCGGCTCATCCCACCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 NA19240.hp2 HG02559.hp2 HG02976.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0018 a0002c0002t0003 a0002c0002t0018	a0002c0002t0003g0314 a0002c0002t0018g0202 a0002c0002t0018g0203 a0002c0002t0003g0314 a0002c0002t0018g0202 a0002c0002t0018g0203	3	323	0.0093	-424	c.-1- others(15): Show c.-1-1680_-1-1257del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128729	CCACCCTG others(417): Show CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGC ACCCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCAC CCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGG GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGT GCAGTGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03540.hp2 HG02451.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0293 a0002c0002t0003g0288 a0001c0001t0003g0293 a0002c0002t0003g0288	2	315	0.0063	-424	c.-1- others(15): Show c.-1-1767_-1-1344del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CEP72_chr5_607340_658553	650323	GGACTGTG others(417): Show GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGGGTGTGAGGTGT GACTGTGAGGCGTGGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGA CTGTGAGGCGTGGACTGTGAGGGGT	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA20129.hp1 NA19010.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0023 a0003c0003t0002g0029 a0003c0003t0002g0023 a0003c0003t0002g0029	2	90	0.0222	-424	c.177 others(19): Show c.1778+2418_1779-2231del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
DOCK8_chr9_209865_470255	320464	CACTCACG others(417): Show CACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGA GATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0184 a0006c0025t0001g0184	1	254	0.0039	-424	c.827 others(17): Show c.827+3338_827+3761del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	320586	CACTCACG others(417): Show CACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAA ACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGG CTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTG ACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCC CAGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCA CGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGA CCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAGATGGCTGGGC TCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGA GATGGCTGGGCTCAAAACCTGACCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG02486.hp2 others(8): Show HG01099.hp1 HG01433.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03669.hp1 NA18522.hp2 NA19090.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0008 a0011 a0022 a0037 a0042 a0053 a0060	a0001c0045 a0002c0100 a0004c0038 others(8): Show a0001c0045 a0002c0100 a0004c0038 a0008c0084 a0011c0148 a0022c0086 a0022c0087 a0037c0037 a0042c0036 a0053c0083 a0060c0131	a0001c0045t0006 a0002c0100t0004 a0004c0038t0004 others(8): Show a0001c0045t0006 a0002c0100t0004 a0004c0038t0004 a0008c0084t0001 a0011c0148t0017 a0022c0086t0006 a0022c0087t0006 a0037c0037t0001 a0042c0036t0003 a0053c0083t0001 a0060c0131t0002	a0001c0045t0006g0063 a0002c0100t0004g0031 a0004c0038t0004g0056 others(8): Show a0001c0045t0006g0063 a0002c0100t0004g0031 a0004c0038t0004g0056 a0008c0084t0001g0034 a0011c0148t0017g0070 a0022c0086t0006g0030 a0022c0087t0006g0029 a0037c0037t0001g0026 a0042c0036t0003g0236 a0053c0083t0001g0228 a0060c0131t0002g0069	11	238	0.0462	-424	c.827 others(17): Show c.827+3460_827+3883del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DUXA_chr19_57149021_57172485	57169123	AACAAAAA others(417): Show AACAAAAATGATATAAATGATATATATTTTAAATATACAGTTTGAATTTT GAAATACACAAAAGATATAATTACCATAATCAAATCAAGCTGATTGATGT ATTTACCACCTCAAACCACACCCTTTGTGTGTGTGTACATATATATTACA TTATATTATATTTACTCCAATTAAATATTGTATTTACTTTTTAGCTTTAT TGAGGTACAGTTGACAAAAATGATATAAATGATATATATTTTAAATATAC AGTTTGAATTTTGAAATACACAAAAGATATAATTACCATAATCAAATCAA GCTGATTGATGTATTTACCACCTCAAACCACACCCTTTGTGTGTGTGTAC ATATATATTACATTATATTATATTTACTCCAATTAAATATTGTATTTACT TTTTAGCTTTATTGAGGTACAGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02818.hp1 others(3): Show HG02109.hp1 HG02257.hp2 HG02818.hp1 HG02895.hp2 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074	6	387	0.0155	-424	c.-21 others(11): Show c.-2104_-1681del	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		1639		chr19	TogoVar
EYS_chr6_63714980_65712226	63908264	ACCATCTT others(417): Show ACCATCTTATACAGTTAGAATGGCTATTATTAAAAAGACAAAAATTTAAA AATGCTGATGAGGATGCAGAGAAAAGGAATACTTATACACTTTTGGTAAA TGTAAATTAGTACAACCTCTATGGAAAACAGTATAAAGATTTCTCAAAGA ACTACTCATTGCCTTGGAAAAGGCATTATTTTTGTTTGTTCTTTTTTATT TTTTTGAGATGGAGTCTCGTTCTATTGCCTAGGCTGGAGTGCAGTGGTGC GATCTTGGCTCACTGCAACCTCCACATCCCGGGTTCAAGTGATTCTCCTG CCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCTCGG CTAATTTTTGTAATTTTAGTAGAGATGGGGTTTCACAATGTTAGCCAGGC TAGTCTCGAACTCCTGACCTCAGGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0005 a0017c0014t0001g0005	1	23	0.0435	-424	c.705 others(21): Show c.7056-44330_7056-43907del	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	35/42			chr6	TogoVar
F7_chr13_113100791_113125685	113111425	TCACAGGG others(417): Show TCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACC TCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTC ACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGT CACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACA CTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACA CCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGA CACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAG GACACCTCACACAAGACACCTCACACGGGGCACACTTCACACTCACAGGT CACCTCACACCCACAGGACACCTCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	398	0.0025	-424	c.225 others(16): Show c.225+615_225+1038del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBTPS1_chr16_84048763_84121942	84050851	CCGCATGT others(417): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTGCAAGGCCGGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTG GGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCC CGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTA CAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGG AGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATATAG GTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCA CATGTGGGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA19240.hp2 HG01243.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0188 a0001c0001t0006g0176 a0001c0001t0006g0188	2	422	0.0047	-424	c.31 others(11): Show c.3174_*3597del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2911		chr16	TogoVar
NUDT4_chr12_93372925_93413146	93392476	TGAACTCC others(417): Show TGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTA GGATTACAGGCATGAGCCACTGCGCCCGGCCAGATATTCATTTAAAAGAT GGGTATGTAATACCTGTTACCTGTTAAATAAAATCTAGGATACTTGTCTA AGGTAATAGGGTATTTTTGTAACAATTTGTAGATTTCAGTCTTTTTTTTT TTTTTTTTTCCCCCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTG CAGTGGTGCAATCTCTGCTCACTGCTCACTGCAACCTCCGCCTCCCAGGT TCAAGTGATTCTCATGCCTCAGTCTCCCGATTAGCTGGGATTACAGGCAT GCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTC ACCATGTTTTGTCCAGGCTGGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(94): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp2 HG03098.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(62): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0138 a0001c0001t0139 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0171 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0185 a0001c0001t0237 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244 a0001c0001t0248	a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0052 others(92): Show a0001c0001t0003g0012 a0001c0001t0003g0023 a0001c0001t0003g0052 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0255 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0275 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0254 a0001c0001t0006g0258 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0010g0016 a0001c0001t0010g0277 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0018g0175 a0001c0001t0018g0270 a0001c0001t0019g0015 a0001c0001t0019g0250 a0001c0001t0019g0274 a0001c0001t0020g0014 a0001c0001t0020g0050 a0001c0001t0021g0015 a0001c0001t0021g0022 a0001c0001t0021g0053 a0001c0001t0022g0014 a0001c0001t0022g0055 a0001c0001t0022g0241 a0001c0001t0039g0015 a0001c0001t0039g0023 a0001c0001t0040g0243 a0001c0001t0040g0260 a0001c0001t0041g0054 a0001c0001t0041g0259 a0001c0001t0042g0226 a0001c0001t0042g0240 a0001c0001t0043g0238 a0001c0001t0043g0262 a0001c0001t0061g0278 a0001c0001t0062g0016 a0001c0001t0063g0276 a0001c0001t0064g0016 a0001c0001t0065g0016 a0001c0001t0068g0281 a0001c0001t0138g0256 a0001c0001t0139g0231 a0001c0001t0141g0223 a0001c0001t0142g0221 a0001c0001t0143g0050 a0001c0001t0144g0246 a0001c0001t0145g0264 a0001c0001t0146g0012 a0001c0001t0147g0012 a0001c0001t0148g0229 a0001c0001t0149g0265 a0001c0001t0150g0252 a0001c0001t0151g0013 a0001c0001t0152g0022 a0001c0001t0153g0261 a0001c0001t0154g0054 a0001c0001t0155g0224 a0001c0001t0156g0242 a0001c0001t0157g0233 a0001c0001t0158g0052 a0001c0001t0160g0239 a0001c0001t0161g0055 a0001c0001t0162g0244 a0001c0001t0163g0171 a0001c0001t0165g0267 a0001c0001t0167g0222 a0001c0001t0168g0023 a0001c0001t0169g0022 a0001c0001t0171g0013 a0001c0001t0173g0013 a0001c0001t0174g0245 a0001c0001t0175g0053 a0001c0001t0176g0013 a0001c0001t0177g0014 a0001c0001t0178g0095 a0001c0001t0179g0051 a0001c0001t0185g0269 a0001c0001t0237g0232 a0001c0001t0238g0253 a0001c0001t0239g0257 a0001c0001t0240g0237 a0001c0001t0241g0236 a0001c0001t0242g0051 a0001c0001t0243g0015 a0001c0001t0244g0251 a0001c0001t0248g0266	97	411	0.2360	-424	c.100 others(17): Show c.100-1920_100-1497del	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93392684	TCCCCCGA others(417): Show TCCCCCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTG CAATCTCTGCTCACTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGA TTCTCATGCCTCAGTCTCCCGATTAGCTGGGATTACAGGCATGCACCACC ACACCTGGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTT TTGTCCAGGCTGGTGTGGAACTCCTGACCTCAGGTGATCTGCCCACCTCA GCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGA TATTCATTTAAAAGATGGGTATGTAATACCTGTTACCTGTTAAATAAAAT CTAGGATACTTGTCTAAGGTAATAGGGTATTTTTGTAACAATTTGTAGAT TTCAGTCTTTTTTTTTTTTTTTTTT	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0228 a0001c0005t0228	a0001c0005t0228g0068 a0001c0005t0228g0068	1	384	0.0026	-424	c.100 others(17): Show c.100-1920_100-1497del	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCGF3_chr4_700832_775089	759019	GTTCTCCT others(417): Show GTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCC GCGCGGCCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTC CCCGCGCGGCCCCTCTCCCGAGTTC	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp1 NA18950.hp2 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0055 a0001c0003t0005 a0001c0003t0055	a0001c0003t0005g0133 a0001c0003t0055g0312 a0001c0003t0005g0133 a0001c0003t0055g0312	2	131	0.0153	-424	c.463 others(17): Show c.463-2260_463-1837del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10			chr4	TogoVar
PLEKHA7_chr11_16772297_17019414	16974622	ACAGGTTT others(417): Show ACAGGTTTTTTTTTTTTTTTTTTTTGAACATAAACTCAAGATTTTATTGT CTTCATAATAAAAGATGACACTTAGAACTGGATCACTTGGCCCTTTCTCT TCTTATCTCCTCCCAGTTCAAAATGCTTGCATCTTTTAATAGCCAGCATT CTCTTAGATCTGCAGTTGGGCTCAACGCACTCAAGCCTTAGCACAATCTT CTTTGTAGTTTTAGCCTTTTTCCGGAAAATCGGCTTAGTTTGCCCACCAT AGCCACTCTGCTTCCTGTCATAACGCCGCTTTCCCTGGGCGTACAGAGAA TCCTTGCCCTTCTTGTACTGTGTCACTTTATGGGGTTGGTGCTTGCCACA CTTCTTACAGAAAGTCCGGCGGGTTTTAGGGACGTTAACCATGCTTGCGT GAGCGCTATCGGCGCGGAAAGAAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(197): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(38): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0022 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0044 a0001c0046 a0002c0004 a0002c0007 a0002c0021 a0002c0041 a0003c0006 a0003c0019 a0003c0033 a0003c0034 a0003c0037 a0004c0011 a0004c0016 a0005c0014 a0005c0039 a0006c0017 a0006c0045 a0007c0020 a0008c0025 a0009c0036 a0010c0038 a0011c0043 a0012c0029 a0014c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0011 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0008t0003 a0001c0008t0005 a0001c0008t0015 a0001c0009t0002 a0001c0009t0004 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0012t0002 a0001c0013t0005 a0001c0015t0006 a0001c0018t0006 a0001c0022t0016 a0001c0027t0005 a0001c0028t0006 a0001c0030t0003 a0001c0031t0005 a0001c0032t0004 a0001c0044t0005 a0001c0046t0002 a0002c0004t0001 a0002c0004t0004 a0002c0004t0010 a0002c0004t0013 a0002c0004t0017 a0002c0004t0018 a0002c0007t0001 a0002c0007t0003 a0002c0007t0004 a0002c0021t0001 a0002c0041t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 a0003c0006t0004 a0003c0019t0002 a0003c0019t0003 a0003c0033t0005 a0003c0034t0002 a0003c0037t0002 a0004c0011t0007 a0004c0016t0007 a0005c0014t0004 a0005c0039t0011 a0006c0017t0001 a0006c0045t0001 a0007c0020t0003 a0008c0025t0005 a0009c0036t0003 a0010c0038t0002 a0011c0043t0003 a0012c0029t0002 a0014c0042t0003	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 others(196): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0060 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0154 a0001c0001t0004g0110 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0008g0023 a0001c0001t0008g0119 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0009g0080 a0001c0001t0009g0120 a0001c0001t0009g0160 a0001c0001t0012g0001 a0001c0002t0001g0032 a0001c0002t0001g0114 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0058 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0145 a0001c0002t0003g0049 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0083 a0001c0002t0003g0148 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0189 a0001c0003t0001g0196 a0001c0003t0001g0212 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0002g0197 a0001c0003t0002g0230 a0001c0003t0003g0171 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0009g0177 a0001c0003t0011g0201 a0001c0005t0001g0183 a0001c0005t0001g0184 a0001c0005t0001g0200 a0001c0005t0001g0224 a0001c0005t0003g0226 a0001c0005t0004g0174 a0001c0005t0004g0186 a0001c0005t0004g0209 a0001c0008t0003g0026 a0001c0008t0005g0051 a0001c0008t0015g0063 a0001c0009t0002g0082 a0001c0009t0004g0022 a0001c0009t0004g0102 a0001c0010t0001g0194 a0001c0010t0001g0227 a0001c0010t0002g0198 a0001c0010t0003g0193 a0001c0010t0004g0195 a0001c0012t0002g0015 a0001c0012t0002g0142 a0001c0012t0002g0151 a0001c0013t0005g0052 a0001c0013t0005g0053 a0001c0013t0005g0065 a0001c0015t0006g0214 a0001c0015t0006g0215 a0001c0018t0006g0218 a0001c0022t0016g0153 a0001c0027t0005g0021 a0001c0028t0006g0074 a0001c0030t0003g0025 a0001c0031t0005g0008 a0001c0032t0004g0019 a0001c0044t0005g0228 a0001c0046t0002g0219 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0111 a0002c0004t0004g0085 a0002c0004t0004g0086 a0002c0004t0010g0239 a0002c0004t0010g0241 a0002c0004t0010g0242 a0002c0004t0013g0117 a0002c0004t0017g0243 a0002c0004t0018g0240 a0002c0007t0001g0175 a0002c0007t0001g0182 a0002c0007t0001g0217 a0002c0007t0003g0187 a0002c0007t0004g0170 a0002c0007t0004g0206 a0002c0021t0001g0188 a0002c0041t0001g0167 a0003c0006t0001g0089 a0003c0006t0001g0090 a0003c0006t0001g0091 a0003c0006t0001g0104 a0003c0006t0001g0113 a0003c0006t0002g0035 a0003c0006t0002g0084 a0003c0006t0002g0124 a0003c0006t0002g0134 a0003c0006t0003g0137 a0003c0006t0004g0047 a0003c0019t0002g0190 a0003c0019t0003g0192 a0003c0033t0005g0144 a0003c0034t0002g0105 a0003c0037t0002g0071 a0004c0011t0007g0095 a0004c0011t0007g0108 a0004c0011t0007g0109 a0004c0011t0007g0118 a0004c0016t0007g0176 a0004c0016t0007g0207 a0004c0016t0007g0210 a0005c0014t0004g0181 a0005c0014t0004g0222 a0005c0014t0004g0223 a0005c0039t0011g0168 a0006c0017t0001g0048 a0006c0045t0001g0191 a0007c0020t0003g0216 a0007c0020t0003g0220 a0008c0025t0005g0029 a0009c0036t0003g0077 a0010c0038t0002g0165 a0011c0043t0003g0172 a0012c0029t0002g0009 a0014c0042t0003g0211	200	242	0.8264	-424	c.221 others(19): Show c.221+38943_221+39366del	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(417): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGA GGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCG GGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCAT CCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTG CATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCC CTGCATCCGGGAGGAGAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02280.hp2 others(6): Show HG01109.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02970.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0017 a0001c0001t0012 a0001c0002t0017	a0001c0001t0012g0020 a0001c0001t0012g0028 a0001c0002t0017g0021 others(1): Show a0001c0001t0012g0020 a0001c0001t0012g0028 a0001c0002t0017g0021 a0001c0002t0017g0052	9	208	0.0433	-424	c.233 others(17): Show c.233+1031_233+1454del	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466913	AGGGAGGG others(417): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGGGGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 NA18945.hp1 HG00741.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	268	0.0075	-424	c.53 others(9): Show c.531_*954del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		404		chrX	TogoVar
YWHAE_chr17_1339275_1405222	1343264	CAAGCGAT others(417): Show CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGTG CGCCACCATGCCTGGCTAATTTTTTGTACTTTTAGTAGAGACGGAGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCTCAAATTGCAGGGATTACAGGTGTGAGCCACCGCACCCAGC CGAGTGGTTTCTTTAAACTCTGCAACAGACTTGACGAATTCCTTGGATTT TGACCTTTAAGTGTAGCAGGTGTGCTGGAAACAGAGCAAATCAACTTGAA AGCTTCTTGGAGGTTGCTCCAAACAGCAGCATATAATTATATTCAATGGT CTCCCTATCTCTCGGAAAAGCAACTCACAAAAACATGTTTATTCTCATTG CCAGCACTCACTAAACGCTACTAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02895.hp2 others(6): Show HG02451.hp1 HG02723.hp2 HG02895.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0010g0034 a0001c0001t0010g0361	9	372	0.0242	-424	c.17 others(11): Show c.1759_*2182del	YWHAE	ENSG00000108953.17	transcript	ENST00000264335.13	protein_coding		1010		chr17	TogoVar
ZNF516_chr18_76352682_76500242	76393020	GGGGAAGG others(417): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0172 a0001c0001t0106g0172	1	323	0.0031	-424	c.181 others(21): Show c.1811-13141_1811-12718del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83022472	GCCCACCT others(416): Show GCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCC CACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCAC CTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTG CACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCAC CAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACCAG CGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGT GAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGCGTGAA CTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGCACCAGCGTGAACTC ACGTTAGCTTAGCACTGTCCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0029 a0001c0004t0001g0029	1	259	0.0039	-423	c.298 others(17): Show c.298-8376_298-7954del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BPGM_chr7_134641853_134684816	134665247	CAAAGTGC others(416): Show CAAAGTGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATG AGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTC AGTAAACTATCGCAAGAACAAAAAAACAAACACCGCATATTCTCACTCAT AGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCA CACTCTGGGGACTGTGGTGGGGTTGGGGGAGGGGGGAGGGATAGTATTGG GAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCA TGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCC TAAAACTTAGAGTATAATAAAAAAAATAAAATAAAATAAAATAAAAATTA ATGAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(265): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0005t0001 a0003c0004t0013 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(137): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0002g0007 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0003g0033 a0001c0001t0003g0093 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0004g0007 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0005g0040 a0001c0001t0005g0144 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0136 a0001c0001t0007g0001 a0001c0001t0008g0055 a0001c0001t0010g0054 a0001c0001t0011g0085 a0001c0001t0012g0084 a0001c0002t0001g0001 a0001c0005t0001g0002 a0003c0004t0013g0001 a0004c0006t0001g0137	268	360	0.7444	-423	c.601 others(17): Show c.601+3148_601+3570del	BPGM	ENSG00000172331.12	transcript	ENST00000344924.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
BRSK2_chr11_1384934_1467689	1430049	TCAGCAGT others(416): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTC TTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTC TGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0321 a0001c0001t0077g0321	1	346	0.0029	-423	c.92- others(15): Show c.92-5897_92-5475del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431440	GTCTGGTC others(416): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGT TTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTT GCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCC ACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCA CTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTG TGCTCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0102 a0002c0002t0002g0102	1	352	0.0028	-423	c.92- others(15): Show c.92-4599_92-4177del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
C8orf34_chr8_68325955_68824023	68576247	GTAATTAT others(416): Show GTAATTATGTAGATGTATTTTAAAAAAATAGCAACCTTTCCCTGAGGATT TGGGACTTCAAATACTCTGTGGTAAGGAATAAAACACAAACAATAAACGT ATTCAGCTAACATTCAAGCAGATTTTTCCTTCAACTATGGTGCAAAATTA GGAATGGAAAGTTATCAAAACCTAGAGTCTGTTTAATGTCACAGATAATA GGCAGAGTGCCCCCTTTGCAGAAGGAAGCGCCAGTTCTTAGTTACTTTTT CTCAGCTACAATTCTTTCAATATTATTGTCTATAAAATCATTAATAAATT TATTATAGGTAAAGGCTTTCTTTGGATTTGTATTTGATGGAATGATATAT TAATGGTGAAAATTTACAGTTCTTATTCTGTGCCAAGCACATTGCTAAAT GCATTGCTCCTTGGAATTTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG02886.hp2 others(2): Show HG02647.hp2 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0005 a0004c0018 others(1): Show a0001c0001 a0001c0005 a0004c0018 a0008c0010	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0004c0018t0007 a0008c0010t0003	a0001c0001t0001g0037 a0001c0001t0003g0061 a0001c0005t0003g0079 others(2): Show a0001c0001t0001g0037 a0001c0001t0003g0061 a0001c0005t0003g0079 a0004c0018t0007g0126 a0008c0010t0003g0090	5	126	0.0397	-423	c.110 others(21): Show c.1105+43100_1105+43522del	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DDX51_chr12_132131594_132149319	132135167	GCTCCTCC others(416): Show GCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCGCTACCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTA CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACC TCCCGAGTGTGCCCACGGTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0009 a0004c0004t0008g0009	1	325	0.0031	-423	c.36 others(11): Show c.3682_*4104del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1426		chr12	TogoVar
FOXN3_chr14_89151177_89422233	89362191	TCCACCAC others(416): Show TCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCAC CACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCT CCACCACCACCACCACCACCTCCAGCACCACCTCTACCACCACCACCTCC AGCACCACCACCACCTCCTCCTCCTCCTCCACCACCACCTCCACCACCAC CACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCACCA CCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCACCACCACCACCACC ACCACCATCTCCACCACCACCACCACCATCTCTACGACCACCACCACCAC CATCTCCACCACCACCTCCACCACCACCACCACCACCATCTCTACGACCA CCACCACCACCACCATCTCTACGA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	210	0.0048	-423	c.544 others(19): Show c.544-11806_544-11384del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRYL_chr4_48492357_48785279	48659499	GGGAGAAG others(416): Show GGGAGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAG AAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAG GGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGA AGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02258.hp2 HG02922.hp1 others(1): Show HG00408.hp1 HG02258.hp2 HG02922.hp1 NA18955.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0004 a0005c0008 a0001c0002 a0002c0004 a0005c0008	a0001c0002t0001 a0002c0004t0001 a0005c0008t0001 a0001c0002t0001 a0002c0004t0001 a0005c0008t0001	a0001c0002t0001g0023 a0002c0004t0001g0244 a0002c0004t0001g0245 others(1): Show a0001c0002t0001g0023 a0002c0004t0001g0244 a0002c0004t0001g0245 a0005c0008t0001g0094	4	261	0.0153	-423	c.-81 others(19): Show c.-81+24751_-80-25010del	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
GALNT17_chr7_71127144_71718599	71679954	TCTCTTCC others(416): Show TCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCC CGCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCTATCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCGCG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp2 HG01243.hp1 HG01433.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0005 a0001c0008t0003 a0001c0006t0005 a0001c0008t0003	a0001c0006t0005g0053 a0001c0008t0003g0007 a0001c0006t0005g0053 a0001c0008t0003g0007	2	76	0.0263	-423	c.150 others(19): Show c.1500+2653_1500+3075del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
HMGXB3_chr5_149995739_150058128	149997383	CAAAAATT others(416): Show CAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGG GATGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTG AGCTGAGATCGTACATTTGCGTTCTAGCCTGGGCAACAAGAGCAAGACTC TGTCTCAAAAACAACAACAACAACAAAAAACAAAAAAAACACACACACCG AAAATAGCTTGAGGTATTCAGGGAACTGAAATATTTGCATGAATCCAAGT ATATGACAAAGGTGGGTGGCCAGACCATTCAAAGATGCCATGGTAGGCTG GATGGGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGCGT GTGGATCACGAGGTCAGGATATCGAGACCATCCTGGCCAACATGGTGAAA CCCTGTCTCTACTAAAAATACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG03209.hp2 others(1): Show HG02630.hp2 HG02886.hp2 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0011 a0001c0001t0021	a0001c0001t0011g0015 a0001c0001t0011g0046 a0001c0001t0011g0047 others(1): Show a0001c0001t0011g0015 a0001c0001t0011g0046 a0001c0001t0011g0047 a0001c0001t0021g0015	4	378	0.0106	-423	c.-37 others(11): Show c.-3798_-3376del	HMGXB3	ENSG00000113716.13	transcript	ENST00000502717.6	protein_coding		3355		chr5	TogoVar
KDM4B_chr19_4964113_5158598	5043455	CGCTGTGT others(416): Show CGCTGTGTTTATCGGAGTGGGGGTGTCCACCTTATCCCGTGCTGTGTTTA TCGGAGTGGGGGTGTCCACCATATCCTACGTGGTGTTTATCGGAGTGGGG TGTCCATCATATCCTGTGTGGTGTTTATCAGAGTGGGGGTGTCCACCATA TCCTGCGTGGGGTTTATCAGAGTGGGGTGTCCACCATATCCTGCGTGGTG TTTATCGGAGTGGGGGTGTCCACCGTATCCTGCGTGGTGTTTATCGGAGT GCAGTGTCCGCCATATCCTGCGTGGTGTTTATCGGAGTGGGGGTGTCCAC TGTATCCCGCGTGGTGGTTATCGGAGTGGGGTGTCCACCTTATCCCGCGT GGTGTTTATCAGAGTGGGGTGTCCACCTTATCCCACTCTGTGTTTATCGG AGTGGGGTGTCCACCTTATCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02572.hp1 others(6): Show HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03471.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0009 a0001c0001t0010 a0002c0002t0002 others(1): Show a0001c0001t0009 a0001c0001t0010 a0002c0002t0002 a0002c0005t0002	a0001c0001t0009g0020 a0001c0001t0009g0022 a0001c0001t0009g0024 others(6): Show a0001c0001t0009g0020 a0001c0001t0009g0022 a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0010g0021 a0002c0002t0002g0026 a0002c0005t0002g0023	9	268	0.0336	-423	c.432 others(17): Show c.432+2243_432+2665del	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
MICU2_chr13_21487691_21609170	21570721	AAAGGGAC others(416): Show AAAGGGACTTAGAGATCATCTAGTCCAACACTTCTGTGTAAAGGACCAGA AGTCATGTCTTCTGAGTTCCATACCCTGTTTGGTTAACTAGTTTGCTTAT TAACTACTTCACATAAATGTTGGGAACAAGTGGCTAAGGTCCAAATGCTG CTAATTTATAGCCTAGGGAAATGCATGCCAAATTATTCCTTATTAATAAC TTGAACAACTAAAAACATAGTTTACAATAAGCCTTTGGCAGAAAATGTAA ACTATTTCTTAATCTGTTCTTTTCCTTTCTTTCTTCACTTCTTCCTTCCT TCCGTGTGCTTTTCCTGGTAACGTGTGCGTGCTCTCTCTTTTCCCAGTTT TCTCTTCCCTCTTAGGTTTCAGGTTGCTTTTTTTTTGTTGCTGCTATTTT CATGTTCCCTGAACTAACCATGTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	314	0.0032	-423	c.211 others(17): Show c.211-4200_211-3778del	MICU2	ENSG00000165487.14	transcript	ENST00000382374.9	protein_coding	1/11			chr13	TogoVar
NUDT4_chr12_93372925_93413146	93392667	TTTTTTTT others(416): Show TTTTTTTTTTTTTTTTTTCCCCCGAGATGGAGTCTTGCTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCTCCCGATTAGCTGGGAT TACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAAAGA CGGGGTTTCACCATGTTTTGTCCAGGCTGGTGTGGAACTCCTGACCTCAG GTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGC CACTGCGCCCGGCCAGATATTCATTTAAAAGATGGGTATGTAATACCTGT TACCTGTTAAATAAAATCTAGGATACTTGTCTAAGGTAATAGGGTATTTT TGTAACAATTTGTAGATTTCAGTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp1 HG02886.hp2 others(4): Show HG00423.hp1 HG02132.hp1 HG02886.hp2 NA18949.hp2 NA19004.hp1 NA19082.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0140 a0001c0001t0159 others(4): Show a0001c0001t0018 a0001c0001t0140 a0001c0001t0159 a0001c0001t0164 a0001c0001t0166 a0001c0001t0170 a0001c0001t0172	a0001c0001t0018g0228 a0001c0001t0140g0235 a0001c0001t0159g0225 others(4): Show a0001c0001t0018g0228 a0001c0001t0140g0235 a0001c0001t0159g0225 a0001c0001t0164g0263 a0001c0001t0166g0056 a0001c0001t0170g0056 a0001c0001t0172g0227	7	412	0.0170	-423	c.100 others(17): Show c.100-1924_100-1502del	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT4_chr12_93372925_93413146	93392685	CCCCCGAG others(416): Show CCCCCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGC AATCTCTGCTCACTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGAT TCTCATGCCTCAGTCTCCCGATTAGCTGGGATTACAGGCATGCACCACCA CACCTGGCTAATTTTTGTATTTTTAGTAAAGACGGGGTTTCACCATGTTT TGTCCAGGCTGGTGTGGAACTCCTGACCTCAGGTGATCTGCCCACCTCAG CCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGAT ATTCATTTAAAAGATGGGTATGTAATACCTGTTACCTGTTAAATAAAATC TAGGATACTTGTCTAAGGTAATAGGGTATTTTTGTAACAATTTGTAGATT TCAGTCTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18966.hp2 NA18977.hp1 others(3): Show HG00609.hp2 NA18966.hp2 NA18977.hp1 NA18982.hp2 NA18991.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0066 a0001c0001t0100 others(3): Show a0001c0001t0011 a0001c0001t0066 a0001c0001t0100 a0001c0001t0101 a0001c0001t0121 a0001c0001t0122	a0001c0001t0011g0282 a0001c0001t0066g0100 a0001c0001t0100g0010 others(3): Show a0001c0001t0011g0282 a0001c0001t0066g0100 a0001c0001t0100g0010 a0001c0001t0101g0124 a0001c0001t0121g0010 a0001c0001t0122g0010	6	343	0.0175	-423	c.100 others(17): Show c.100-1686_100-1264del	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2123769	GGTGGTTA others(416): Show GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACG GTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGT CACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTA GGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGCGGTT AGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGC GGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGACGGTTAGGGTCACGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTC ACGGCGGTGGTTAGGGTCACGGCT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	247	0.0040	-423	c.335 others(19): Show c.335-11490_335-11068del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TIGD6_chr5_149988118_150005654	149997383	CAAAAATT others(416): Show CAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGG GATGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTG AGCTGAGATCGTACATTTGCGTTCTAGCCTGGGCAACAAGAGCAAGACTC TGTCTCAAAAACAACAACAACAACAAAAAACAAAAAAAACACACACACCG AAAATAGCTTGAGGTATTCAGGGAACTGAAATATTTGCATGAATCCAAGT ATATGACAAAGGTGGGTGGCCAGACCATTCAAAGATGCCATGGTAGGCTG GATGGGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGACGCGT GTGGATCACGAGGTCAGGATATCGAGACCATCCTGGCCAACATGGTGAAA CCCTGTCTCTACTAAAAATACAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp2 HG03209.hp2 others(1): Show HG02630.hp2 HG02886.hp2 HG03209.hp2 NA18906.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0016 a0004c0004t0006g0016	4	434	0.0092	-423	c.-81 others(16): Show c.-81-1377_-81-955del	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	1/1			chr5	TogoVar
TOLLIP_chr11_1269371_1314632	1294490	AGTGTGTC others(416): Show AGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGT GTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTG TCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCT CCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCT TTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTC CCTGCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCT GCATTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTTCCTGCA TTTCTACGAAAGCCCGCGTGGCTCACGGTGTGTCTCCTTTCCCTGCATTT CTACGAAAGCCCGGGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18979.hp1 NA19004.hp2 HG00438.hp2 NA18979.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0186 a0001c0002t0002g0227 a0001c0002t0002g0133 a0001c0002t0002g0186 a0001c0002t0002g0227	3	282	0.0106	-423	c.183 others(16): Show c.183+732_183+1154del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TSBP1_chr6_32287698_32376903	32343921	ATGATATT others(416): Show ATGATATTAACTTTGATAGTAATTTGTACAAGCTACCATAGAATGAACCC TCACTATATTCAGTGGAGAAAGTCTGGGCATTAGTCTTATTTGTCTTACA TTGACTGTTAAATGACTATGCAAAGTTTGATAATTCTCACCATCTTTTGG AACTGCATTTATTTAATTTAATTTATTTATTTATTTTATTTTATTATTAT TGTACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGTGCTGCATCCATTAACTCGTCATTTA GCATTAGGTATATTTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCCC ACCCTCCACCCCACAACAGTCGATCAATGACAGGATTTAATAATTTTTCT TCTGCTCAACTTTTATGATTCAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG01891.hp2 HG02451.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0012 a0006c0006t0012	a0006c0006t0012g0062 a0006c0006t0012g0063 a0006c0006t0012g0062 a0006c0006t0012g0063	2	420	0.0048	-423	c.281 others(16): Show c.281-1086_281-664del	TSBP1	ENSG00000204296.13	transcript	ENST00000533191.6	protein_coding	9/25			chr6	TogoVar

Search by Variant

Search

Search Results