Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DAB2IP_chr9_121646634_121790530	121752241	CCTCAGGC others(203): Show CCTCAGGCCTTCTTCGTCCCTCCTCCAAGGGAACAACCACGTCACCAGGG TTTGCAGGCTGAGGGAGGGCTATCCCTATCCCCACTGACCTCCCGTTCCC TCTGAGCTTAGCTGACCTTGGCTGCTGGTGTGTTGGGGTTTTGGTCCAGG AACTCTAAGGCTCTGGACCTTGGAGCCAGCCAGACCCAACTTTACCCACA AGGAGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 NA20300.hp1 HG02257.hp2 HG02280.hp2 NA20300.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0016 a0001c0011t0008 a0001c0011t0016	a0001c0011t0008g0047 a0001c0011t0008g0084 a0001c0011t0016g0009 a0001c0011t0008g0047 a0001c0011t0008g0084 a0001c0011t0016g0009	3	222	0.0135	-210	c.363 others(17): Show c.363-4771_363-4562del		DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	3/15						chr9	TogoVar
DCDC2C_chr2_3698575_3853008	3786348	CGTGTGTC others(203): Show CGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTG TGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCG GTGCGGGTGTGTCCCGCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCC GCCTGTGCACGGAGCCTCCGGTGCGGGTGTGTCCCGCCTGTGCACGGAGC CTCCGGTGCGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(62): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01496.hp1 HG01952.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03942.hp1 NA18612.hp1 NA18941.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19081.hp2 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0003 a0001c0002t0007 a0001c0002t0025 a0001c0013t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0011 a0002c0004t0001 a0002c0004t0003 a0004c0007t0001 a0004c0007t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 others(62): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0007 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0053 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0144 a0001c0001t0003g0162 a0001c0001t0003g0166 a0001c0001t0004g0052 a0001c0001t0004g0167 a0001c0001t0004g0252 a0001c0001t0004g0259 a0001c0001t0004g0268 a0001c0001t0004g0284 a0001c0001t0004g0288 a0001c0001t0005g0043 a0001c0001t0005g0048 a0001c0001t0005g0321 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0269 a0001c0001t0006g0290 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0009g0055 a0001c0001t0009g0274 a0001c0001t0009g0281 a0001c0002t0003g0148 a0001c0002t0003g0154 a0001c0002t0007g0152 a0001c0002t0007g0153 a0001c0002t0025g0013 a0001c0013t0001g0208 a0002c0003t0001g0187 a0002c0003t0003g0230 a0002c0003t0003g0232 a0002c0003t0011g0237 a0002c0004t0001g0227 a0002c0004t0001g0231 a0002c0004t0003g0185 a0002c0004t0003g0186 a0002c0004t0003g0225 a0002c0004t0003g0226 a0002c0004t0003g0228 a0004c0007t0001g0083 a0004c0007t0001g0084 a0004c0007t0002g0035	65	99	0.6566	-210	c.106 others(19): Show c.1065+1416_1065+1625del		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132134699	ACGGTGCC others(203): Show ACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTG TGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCC ACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA18983.hp2 HG00280.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0002c0002 a0001c0020 a0002c0002	a0001c0020t0027 a0002c0002t0004 a0001c0020t0027 a0002c0002t0004	a0001c0020t0027g0065 a0002c0002t0004g0006 a0001c0020t0027g0065 a0002c0002t0004g0006	2	332	0.0060	-210	c.43 others(11): Show c.4363_*4572del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1894		chr12	TogoVar
DDX51_chr12_132131594_132149319	132135004	TCCGAGTG others(203): Show TCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCCCGCT CCTCCCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG04228.hp2 HG02683.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	2	227	0.0088	-210	c.40 others(11): Show c.4058_*4267del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1589		chr12	TogoVar
DEAF1_chr11_639233_700222	647806	AGTGCTGG others(203): Show AGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGG TGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACC CAGGCGGTGCTGGGAGCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGA GCAGGTGGGTGGACTTGACCCAGGCGGTGCTGGGAGCAGGTGGGTGGACT TGACCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	31	0.0323	-210	c.159 others(19): Show c.1594-3362_1594-3153del		DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11						chr11	TogoVar
DGKB_chr7_14140049_14907751	14212111	TTTTACTC others(203): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTC TCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	103	0.0097	-210	c.212 others(21): Show c.2123-34170_2123-33961del		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKH_chr13_42043648_42247896	42181816	CTGCTGGC others(203): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGC AGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGC TGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTG CTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGC TGAGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0026 a0001c0008t0026	a0001c0008t0026g0235 a0001c0008t0026g0235	1	12	0.0833	-210	c.153 others(19): Show c.1538+3688_1538+3897del		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775124	TGTATTCT others(203): Show TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTAC AGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTA CAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	417	0.0024	-210	c.364 others(17): Show c.364-1300_364-1091del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DLGAP2_chr8_732628_1713476	1317431	AACTTCGC others(203): Show AACTTCGCAGCTTTTAAAAATAGAGGCTGTGCGAGTGCAGCGTCTCTCCA ACAGTGGTCTACACTCGAGACACTTGGCAGCGTTTAAAAATAGAGGCTGT GCGAGTGCAGCGTGTCTCCAACAGTGGTCTACACTCGAGACACTCGGCAG CGTTTAAAAATACAGGCTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCT ACACTCGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp1 HG02895.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0002 a0002c0007t0008 a0002c0001t0002 a0002c0007t0008	a0002c0001t0002g0032 a0002c0007t0008g0040 a0002c0001t0002g0032 a0002c0007t0008g0040	2	38	0.0526	-210	c.106 others(19): Show c.106+58552_106+58761del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1317882	TGAGTGCA others(203): Show TGAGTGCAGCGTCTCTCCAACAGTGGTCTACACTCGAGACACTCGTCAGC GTTTAAAAATAGAGCGTGTGCGAGTGCAGCGTCTCTCCAACAGTGGTCTA CACTCGAGAAACTCGGCAGCTTTTAAAAATAGAGCGTGTGTGAGTGCAGC GTCTCTCCAACAGTGGTCTACACTCGAGACACTCGTCAGTGTTTAAAAAT AGAGCGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02258.hp1 others(17): Show HG00639.hp2 HG01891.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0009 others(7): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 others(16): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0022 a0001c0003t0006 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0019 a0002c0004t0018 a0002c0006t0021 a0002c0007t0008 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0002t0010g0008 others(17): Show a0001c0002t0001g0015 a0001c0002t0006g0011 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0007g0038 a0002c0001t0019g0031 a0002c0004t0018g0010 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0002g0030 a0004c0008t0016g0028	20	35	0.5714	-210	c.106 others(19): Show c.106+59069_106+59278del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691791	TCGGCCCT others(203): Show TCGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCT GGTTTAAACGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAA CGCGGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTAC CGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAG GGAGGCGGATA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0021 a0002c0001t0003g0021	1	34	0.0294	-210	c.279 others(17): Show c.2796+622_2796+831del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566334	ACTCTGTC others(203): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	328	0.0030	-210	c.641 others(17): Show c.641-1390_641-1181del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566723	CTCTGTCT others(203): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCT GGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	335	0.0030	-210	c.641 others(17): Show c.641-1779_641-1570del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DUXA_chr19_57149021_57172485	57169584	CAGTTTGA others(203): Show CAGTTTGAATTTTGAAATACACAAAAGATATAATTACCATAATCAAATCA AGCTGATTGATGTATTTACCACCTCAAACCACTCCCTTTGTGTGTGTGTA CATATATATTACATTATATTATATTTACTCCAATTAAATATTGTATTTAC TTTTTAGCTTTATTGAGGTACAGTTGACAAAAATGATATAAATGATATAT ATTTTAAATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00738.hp2 others(44): Show HG00099.hp2 HG00423.hp2 HG00738.hp2 HG01106.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02615.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18962.hp2 NA18964.hp1 NA18980.hp1 NA18985.hp1 NA19056.hp1 NA19063.hp1 NA19082.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0068 others(41): Show a0001c0001t0001g0017 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0111 a0001c0001t0006g0106 a0001c0001t0007g0109	47	444	0.1059	-210	c.-23 others(11): Show c.-2351_-2142del		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					2100		chr19	TogoVar
EML1_chr14_99788413_99947060	99927913	TATTGGTG others(203): Show TATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp2 HG00609.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0086 a0001c0003t0004g0266 a0001c0003t0004g0086 a0001c0003t0004g0266	2	286	0.0070	-210	c.190 others(19): Show c.1909+7037_1909+7246del		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21						chr14	TogoVar
ERICH1_chr8_659200_736224	679828	GCAGCTGC others(203): Show GCAGCTGCCACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGC CACCCCTGTGAACACAGAAGATGCAAGAGAATCCACAGCTGCCACCCCTG TGAACACAGAAAGTCCAAGAGAATCCATAGCTGCCACCCCTGTGAACACA GAAGATGCAAGAGAATCCACAGCTGCCACCCCTGTGAACACAGAAGATGC AAGAGAATCCA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA20752.hp1 HG01952.hp1 NA20752.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0011 a0001c0003 a0012c0011	a0001c0003t0004 a0012c0011t0002 a0001c0003t0004 a0012c0011t0002	a0001c0003t0004g0228 a0012c0011t0002g0244 a0001c0003t0004g0228 a0012c0011t0002g0244	2	204	0.0098	-210	c.305 others(17): Show c.305-5991_305-5782del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ESYT2_chr7_158725997_158834509	158804019	TCGAGAAG others(203): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGG TGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAA ACCCAAACCGC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	316	0.0032	-210	c.331 others(17): Show c.331-5157_331-4948del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22						chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804307	GGTGAGGC others(203): Show GGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGTGAC AAACCCAAACCGTTGAGAAGGGTGAGGCGAGTGACAAACCCAAACTGTTG AGAAAAGTGAGGCACGTGACAAACCCAAACTGCCGAGAAAGGTGAGGTGT GTGACAAACCCAAACTGCCGAGAAGGGTGAGGCGCGTGACAAACCCAAAC TGCTGAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp1 others(4): Show HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG02258.hp1 HG02615.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0002t0018	a0002c0002t0001g0134 a0002c0002t0006g0002 a0002c0002t0006g0137 others(3): Show a0002c0002t0001g0134 a0002c0002t0006g0002 a0002c0002t0006g0137 a0002c0002t0012g0136 a0002c0002t0018g0132 a0002c0002t0018g0133	7	368	0.0190	-210	c.331 others(17): Show c.331-5445_331-5236del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22						chr7	TogoVar
FOXK2_chr17_82514732_82609602	82580432	ACCTCTCC others(203): Show ACCTCTCCATGTCACCCATGAAGTAGCTCCATCCACAGGGCCCAGATCCC TCCCACACATGGCCCAGCCCTCCTCTCCATGTCACCCGTGAAGTAGCTCC ATCCACAGGGCCCAGATCCCTCCCACACATAGCCCACCCCTCCTCTCCAT GTCACCCGTGAAGTAGCTCCATCCACAGGGCCCAGATCCCTCCCACACAT GGCCTAGCCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(178): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0012 a0015 a0018 a0020 a0021	a0001c0001 a0001c0003 a0001c0016 others(13): Show a0001c0001 a0001c0003 a0001c0016 a0001c0027 a0002c0002 a0002c0030 a0003c0004 a0005c0012 a0006c0024 a0007c0023 a0008c0025 a0012c0014 a0015c0020 a0018c0031 a0020c0022 a0021c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0003t0016 a0001c0003t0047 a0001c0016t0040 a0001c0027t0023 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0017 a0002c0002t0018 a0002c0002t0041 a0002c0030t0001 a0003c0004t0049 a0003c0004t0050 a0005c0012t0009 a0006c0024t0002 a0007c0023t0016 a0008c0025t0004 a0012c0014t0005 a0015c0020t0037 a0018c0031t0001 a0020c0022t0039 a0021c0029t0002	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0039 others(178): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0050 a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0001t0002g0136 a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0300 a0001c0001t0003g0043 a0001c0001t0003g0057 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0142 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0161 a0001c0001t0003g0171 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0295 a0001c0001t0003g0298 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0258 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0270 a0001c0001t0004g0281 a0001c0001t0004g0296 a0001c0001t0004g0299 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0006g0228 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0008g0125 a0001c0001t0008g0128 a0001c0001t0008g0252 a0001c0001t0008g0264 a0001c0001t0008g0269 a0001c0001t0008g0284 a0001c0001t0009g0176 a0001c0001t0009g0179 a0001c0001t0009g0189 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0239 a0001c0001t0010g0052 a0001c0001t0010g0130 a0001c0001t0010g0168 a0001c0001t0010g0277 a0001c0001t0011g0163 a0001c0001t0011g0170 a0001c0001t0012g0172 a0001c0001t0012g0230 a0001c0001t0012g0236 a0001c0001t0012g0237 a0001c0001t0012g0238 a0001c0001t0013g0131 a0001c0001t0013g0138 a0001c0001t0015g0051 a0001c0001t0015g0060 a0001c0001t0015g0301 a0001c0001t0016g0143 a0001c0001t0017g0120 a0001c0001t0018g0098 a0001c0001t0018g0294 a0001c0001t0023g0282 a0001c0001t0024g0064 a0001c0001t0024g0260 a0001c0001t0026g0121 a0001c0001t0027g0160 a0001c0001t0028g0164 a0001c0001t0028g0165 a0001c0001t0029g0058 a0001c0001t0031g0180 a0001c0001t0034g0148 a0001c0001t0035g0159 a0001c0001t0042g0041 a0001c0001t0044g0169 a0001c0001t0045g0134 a0001c0001t0046g0249 a0001c0001t0048g0251 a0001c0001t0051g0097 a0001c0001t0053g0293 a0001c0001t0054g0283 a0001c0003t0002g0256 a0001c0003t0002g0285 a0001c0003t0003g0140 a0001c0003t0003g0253 a0001c0003t0003g0290 a0001c0003t0015g0257 a0001c0003t0016g0250 a0001c0003t0047g0286 a0001c0016t0040g0048 a0001c0027t0023g0061 a0002c0002t0001g0042 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0110 a0002c0002t0001g0116 a0002c0002t0002g0107 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0003g0006 a0002c0002t0003g0144 a0002c0002t0004g0104 a0002c0002t0008g0109 a0002c0002t0011g0035 a0002c0002t0011g0036 a0002c0002t0011g0037 a0002c0002t0011g0038 a0002c0002t0013g0105 a0002c0002t0017g0112 a0002c0002t0017g0114 a0002c0002t0018g0115 a0002c0002t0041g0102 a0002c0030t0001g0108 a0003c0004t0049g0135 a0003c0004t0050g0133 a0005c0012t0009g0233 a0006c0024t0002g0056 a0007c0023t0016g0289 a0008c0025t0004g0305 a0012c0014t0005g0234 a0015c0020t0037g0162 a0018c0031t0001g0297 a0020c0022t0039g0288 a0021c0029t0002g0100	181	306	0.5915	-210	c.910 others(17): Show c.910-2035_910-1826del		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
GABRG3_chr15_26966181_27546984	27388087	GAGGGAGG others(203): Show GAGGGAGGAAAGGGAGGGAGGGAAAAGAAGGAAGGAAGGAAAGGAGGGAG GGAGGGTAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGGAAAGGAGGGAG GGAGGGTAAGGAAGGAAGGAAGGAAAGGAGGAAGGAAGGAAAGGGAGGAG GGAGGGAGGAAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAA GGAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0036	a0001c0007t0036g0016 a0001c0007t0036g0016	1	91	0.0110	-210	c.574 others(19): Show c.574+59203_574+59412del		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GDPD4_chr11_77211558_77306686	77213459	ATTCCTGG others(203): Show ATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGT GCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTT GGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTC AGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACA GCCTCCTAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	348	0.0029	-210	c.36 others(11): Show c.3608_*3817del		GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding					3098		chr11	TogoVar
GGA2_chr16_23458542_23515494	23462701	AGCACCTA others(203): Show AGCACCTAAATTTATAGAATATCCTATCTGCTATTTTGTACACCTCATGA CATTCTCACCAAAATGTGTGAAGTAGACTTCTAACATTTTTACCATTTAC GGATATAAAAACTGAGGCCCAGAGACCACTGACTTGCCCAACATGCTACA TAGATGGTAAAAAACTAGAAATTAAACCTGACTCCCCAGCCCACACTTGG TTCACTCTAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp2 others(120): Show HG00099.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0008 a0003c0005 a0005c0009	a0001c0001t0013 a0001c0001t0037 a0001c0001t0040 others(56): Show a0001c0001t0013 a0001c0001t0037 a0001c0001t0040 a0001c0001t0049 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0042 a0002c0002t0043 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0055 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0003t0038 a0002c0003t0039 a0002c0003t0041 a0002c0008t0060 a0003c0005t0016 a0005c0009t0048	a0001c0001t0013g0005 a0001c0001t0013g0067 a0001c0001t0037g0056 others(116): Show a0001c0001t0013g0005 a0001c0001t0013g0067 a0001c0001t0037g0056 a0001c0001t0040g0057 a0001c0001t0049g0058 a0002c0002t0005g0186 a0002c0002t0005g0191 a0002c0002t0005g0194 a0002c0002t0005g0197 a0002c0002t0005g0207 a0002c0002t0005g0214 a0002c0002t0005g0224 a0002c0002t0005g0232 a0002c0002t0005g0235 a0002c0002t0006g0004 a0002c0002t0006g0022 a0002c0002t0006g0026 a0002c0002t0006g0043 a0002c0002t0006g0050 a0002c0002t0006g0052 a0002c0002t0006g0055 a0002c0002t0007g0031 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0040 a0002c0002t0007g0041 a0002c0002t0007g0042 a0002c0002t0007g0049 a0002c0002t0007g0051 a0002c0002t0009g0193 a0002c0002t0009g0201 a0002c0002t0009g0202 a0002c0002t0009g0209 a0002c0002t0009g0218 a0002c0002t0009g0230 a0002c0002t0009g0238 a0002c0002t0010g0184 a0002c0002t0010g0187 a0002c0002t0010g0219 a0002c0002t0010g0222 a0002c0002t0010g0227 a0002c0002t0010g0233 a0002c0002t0010g0237 a0002c0002t0011g0025 a0002c0002t0011g0034 a0002c0002t0011g0036 a0002c0002t0011g0039 a0002c0002t0011g0044 a0002c0002t0012g0021 a0002c0002t0012g0023 a0002c0002t0012g0024 a0002c0002t0012g0048 a0002c0002t0015g0189 a0002c0002t0015g0203 a0002c0002t0015g0216 a0002c0002t0015g0220 a0002c0002t0016g0192 a0002c0002t0016g0217 a0002c0002t0016g0226 a0002c0002t0017g0178 a0002c0002t0017g0196 a0002c0002t0017g0198 a0002c0002t0017g0205 a0002c0002t0018g0027 a0002c0002t0018g0028 a0002c0002t0018g0030 a0002c0002t0019g0003 a0002c0002t0019g0020 a0002c0002t0024g0002 a0002c0002t0025g0014 a0002c0002t0025g0016 a0002c0002t0026g0046 a0002c0002t0026g0047 a0002c0002t0027g0053 a0002c0002t0027g0054 a0002c0002t0031g0199 a0002c0002t0031g0211 a0002c0002t0032g0179 a0002c0002t0032g0180 a0002c0002t0033g0225 a0002c0002t0033g0228 a0002c0002t0034g0182 a0002c0002t0034g0200 a0002c0002t0035g0185 a0002c0002t0035g0231 a0002c0002t0042g0019 a0002c0002t0043g0018 a0002c0002t0045g0015 a0002c0002t0046g0013 a0002c0002t0047g0017 a0002c0002t0050g0029 a0002c0002t0051g0032 a0002c0002t0052g0045 a0002c0002t0053g0038 a0002c0002t0055g0037 a0002c0002t0069g0177 a0002c0002t0070g0188 a0002c0002t0071g0234 a0002c0002t0072g0215 a0002c0002t0073g0221 a0002c0002t0074g0190 a0002c0002t0075g0206 a0002c0002t0076g0183 a0002c0002t0077g0210 a0002c0002t0078g0223 a0002c0002t0079g0181 a0002c0002t0080g0229 a0002c0002t0081g0208 a0002c0002t0082g0204 a0002c0002t0083g0195 a0002c0002t0084g0239 a0002c0002t0085g0240 a0002c0002t0086g0241 a0002c0003t0038g0066 a0002c0003t0039g0064 a0002c0003t0041g0065 a0002c0008t0060g0072 a0003c0005t0016g0213 a0005c0009t0048g0068	123	252	0.4881	-210	c.46 others(11): Show c.4679_*4888del		GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding					840		chr16	TogoVar
GLB1L2_chr11_134326988_134381324	134375740	GACATGTG others(203): Show GACATGTGAGTCCTGGCAGAAGCCATGGCCCATGTCTGCACATCCAGGGA GGAGGACAGAAGGCCCAGCTCACATGTGAGTCCTGGCAGAAGCCATGGCC CATGTCTGCACATCCAGGGAGGAGGACAGAAGGCCCAGCTCACATGTGAG TCCTGGCAGAAGCCATGGCCCATGTCTGCACATCCAGGGAGGAGGACAGA AGGCCCAGCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(133): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02717.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0023 a0002c0037 a0003c0008 a0004c0016 a0006c0014 a0007c0035 a0009c0022	a0001c0001t0001 a0001c0001t0018 a0001c0002t0010 others(10): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0010 a0001c0003t0001 a0001c0004t0001 a0001c0005t0010 a0001c0023t0001 a0002c0037t0021 a0003c0008t0001 a0004c0016t0001 a0006c0014t0010 a0007c0035t0001 a0009c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0018g0308 a0001c0002t0010g0024 a0001c0002t0010g0070 a0001c0002t0010g0086 a0001c0002t0010g0287 a0001c0003t0001g0332 a0001c0003t0001g0335 a0001c0003t0001g0337 a0001c0003t0001g0345 a0001c0003t0001g0357 a0001c0003t0001g0358 a0001c0003t0001g0369 a0001c0004t0001g0010 a0001c0004t0001g0020 a0001c0004t0001g0041 a0001c0004t0001g0118 a0001c0004t0001g0126 a0001c0004t0001g0130 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0141 a0001c0004t0001g0144 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0179 a0001c0004t0001g0318 a0001c0005t0010g0073 a0001c0023t0001g0089 a0002c0037t0021g0342 a0003c0008t0001g0004 a0003c0008t0001g0119 a0003c0008t0001g0160 a0004c0016t0001g0153 a0004c0016t0001g0157 a0006c0014t0010g0090 a0006c0014t0010g0161 a0007c0035t0001g0280 a0009c0022t0001g0377	136	208	0.6538	-210	c.89 others(10): Show c.894_*1103del		GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	19/19				894	INFO_REALIGN_3_PRIME	chr11	TogoVar
GRM7_chr3_6856115_7746533	7099513	TATGTATA others(203): Show TATGTATATGTACACGCATTATACATGTACACATATATGTATATGTACAC GCATTATACATGTGCACATATATGTATATGTACACGCATTATACATGTGC ACATATATGTATATGTACACGCATTATACATGTGCACATATATGTATATG TACACGCATTATACATGTGCACATATATGTATATGTACACGCATTATACA TGTGCACATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG03486.hp1 HG02258.hp1 HG02280.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0014 a0001c0002 a0001c0009 a0001c0014	a0001c0002t0002 a0001c0009t0001 a0001c0014t0002 a0001c0002t0002 a0001c0009t0001 a0001c0014t0002	a0001c0002t0002g0023 a0001c0009t0001g0069 a0001c0014t0002g0011 a0001c0002t0002g0023 a0001c0009t0001g0069 a0001c0014t0002g0011	3	80	0.0375	-210	c.520 others(19): Show c.520-46911_520-46702del		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7099618	TATGTATA others(203): Show TATGTATATGTACACGCATTATACATGTGCACATATATGTATATGTACAC GCATTATACATGTGCACATATATGTATATGTACACGCATTATACATGTGC ACATACATGTATATGTACACGCATTATACATGTGCACATACATGTATATG TACACGCATTATACATGTGCACATACATGTATATGTACACGCATTATACA TGTGCACATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG03098.hp1 others(2): Show HG02717.hp2 HG02965.hp2 HG03098.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0005 a0001c0002t0002 a0001c0004t0002 others(2): Show a0001c0001t0005 a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001	a0001c0001t0005g0055 a0001c0002t0002g0024 a0001c0004t0002g0013 others(2): Show a0001c0001t0005g0055 a0001c0002t0002g0024 a0001c0004t0002g0013 a0001c0004t0003g0079 a0001c0005t0001g0022	5	80	0.0625	-210	c.520 others(19): Show c.520-46773_520-46564del		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GUCA2A_chr1_42157690_42169745	42167130	GTGTGCTG others(203): Show GTGTGCTGAGGTGTGTGTGTGTGCTGAGCTGTGTGTGTGCTGATGTGTGT GTATACACTGAGGTGTGTGTGAGTGCTGACATGTGTGTATACACTGAGGA GCGTGTGTGTGCTGAGGTATGTGTGCGCTGATGTGTGTGTATACACTGAG GTGCGTGTGTGTGCTGAGGTGTGTGTGTGCTGACATGTGTGTATACACTG AGGTGCGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	-210	c.-26 others(11): Show c.-2628_-2419del		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2386		chr1	TogoVar
GYG2_chrX_2823930_2887818	2845185	ATGTATAT others(203): Show ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGT ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATAT TTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0012 a0002c0002t0004g0026 a0002c0002t0003g0012 a0002c0002t0004g0026	2	312	0.0064	-210	c.149 others(17): Show c.149+1835_149+2044del		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
HBM_chr16_160978_171764	163590	AGGAGGGG others(203): Show AGGAGGGGACCGTGGGAAGGAGACAGTGAGGAGGGGACCTTGGGGAGGGG ACAGTGAGGAGGGGACCATGGGGAGGGGACAGTGAGGAGGGGACAATGGA GAGGGGACAGTGAGGAGGGGACTGTGGGGAGAGGACAGTGAGGAGGGGAC CATGGGGAGGGCACAGTGGGGAGGGGAGAGTGAGGAAGGGACAGTGAGGA GGGGACTGTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(101): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18948.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19063.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19088.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0003c0011t0001 a0001c0001t0001 a0001c0002t0001 a0003c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0002t0001g0001 a0003c0011t0001g0001	104	368	0.2826	-210	c.-24 others(11): Show c.-2407_-2198del		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					2387		chr16	TogoVar
HDAC4_chr2_239043168_239406020	239231667	CTGCTGAG others(203): Show CTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCAAAGC GCCCCTGTCCTCAACCGAGGTTGCTGAGCACCTGCTCCCGGATGCCTGAG GTAGGTGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCA CCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCC TCAACCGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG03195.hp2 HG02895.hp1 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0009 a0001c0003 a0001c0005 a0001c0009	a0001c0003t0004 a0001c0005t0007 a0001c0009t0040 a0001c0003t0004 a0001c0005t0007 a0001c0009t0040	a0001c0003t0004g0019 a0001c0005t0007g0034 a0001c0009t0040g0074 a0001c0003t0004g0019 a0001c0005t0007g0034 a0001c0009t0040g0074	3	240	0.0125	-210	c.94+ others(15): Show c.94+4716_94+4925del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239231731	CCGAGGTT others(203): Show CCGAGGTTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCC CGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTGCTCCCGGATG CCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGTTGC TGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCCCGAAGCGCCC CTCTCCTCAAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02132.hp2 others(3): Show HG00609.hp1 HG00673.hp1 HG02132.hp2 HG02523.hp1 HG02683.hp1 NA18747.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0013	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0003t0027 a0001c0006t0011 a0003c0013t0002	a0001c0001t0001g0140 a0001c0001t0014g0158 a0001c0002t0001g0182 others(3): Show a0001c0001t0001g0140 a0001c0001t0014g0158 a0001c0002t0001g0182 a0001c0003t0027g0134 a0001c0006t0011g0157 a0003c0013t0002g0156	6	240	0.0250	-210	c.94+ others(15): Show c.94+4652_94+4861del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239231772	TGTCCTCC others(203): Show TGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTGC TCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAAC CGAGGTTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCCC GAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGCTCCCGGATGC CTGAGGTAGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(113): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18946.hp2 NA18961.hp1 NA18961.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0030 a0001c0032 a0001c0033 a0001c0035 a0002c0014 a0004c0025 a0008c0020 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0057 a0001c0001t0060 a0001c0001t0063 a0001c0001t0066 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0023 a0001c0002t0043 a0001c0002t0058 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0022 a0001c0003t0034 a0001c0003t0065 a0001c0004t0032 a0001c0004t0062 a0001c0004t0068 a0001c0005t0001 a0001c0005t0007 a0001c0006t0002 a0001c0006t0026 a0001c0006t0045 a0001c0006t0048 a0001c0007t0003 a0001c0007t0021 a0001c0009t0053 a0001c0010t0008 a0001c0011t0025 a0001c0012t0028 a0001c0023t0001 a0001c0024t0069 a0001c0026t0001 a0001c0027t0009 a0001c0030t0001 a0001c0032t0001 a0001c0033t0001 a0001c0035t0067 a0002c0014t0002 a0004c0025t0044 a0008c0020t0038 a0009c0021t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0063 others(113): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0159 a0001c0001t0002g0195 a0001c0001t0002g0223 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0004g0185 a0001c0001t0004g0232 a0001c0001t0005g0099 a0001c0001t0005g0160 a0001c0001t0006g0116 a0001c0001t0006g0188 a0001c0001t0006g0218 a0001c0001t0006g0227 a0001c0001t0008g0166 a0001c0001t0008g0173 a0001c0001t0010g0126 a0001c0001t0011g0211 a0001c0001t0013g0109 a0001c0001t0015g0238 a0001c0001t0018g0201 a0001c0001t0021g0137 a0001c0001t0031g0092 a0001c0001t0033g0151 a0001c0001t0035g0090 a0001c0001t0037g0055 a0001c0001t0057g0088 a0001c0001t0060g0084 a0001c0001t0063g0149 a0001c0001t0066g0007 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0002t0001g0152 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0205 a0001c0002t0001g0240 a0001c0002t0002g0161 a0001c0002t0004g0198 a0001c0002t0004g0209 a0001c0002t0004g0222 a0001c0002t0006g0234 a0001c0002t0009g0100 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0009g0184 a0001c0002t0012g0111 a0001c0002t0012g0143 a0001c0002t0015g0120 a0001c0002t0015g0183 a0001c0002t0016g0053 a0001c0002t0016g0177 a0001c0002t0020g0174 a0001c0002t0023g0191 a0001c0002t0043g0089 a0001c0002t0058g0142 a0001c0003t0001g0025 a0001c0003t0002g0144 a0001c0003t0003g0239 a0001c0003t0004g0123 a0001c0003t0005g0005 a0001c0003t0005g0081 a0001c0003t0007g0124 a0001c0003t0008g0168 a0001c0003t0022g0047 a0001c0003t0034g0009 a0001c0003t0065g0040 a0001c0004t0032g0048 a0001c0004t0062g0077 a0001c0004t0068g0091 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0012 a0001c0005t0001g0128 a0001c0005t0007g0080 a0001c0006t0002g0065 a0001c0006t0026g0060 a0001c0006t0045g0135 a0001c0006t0048g0062 a0001c0007t0003g0035 a0001c0007t0003g0078 a0001c0007t0021g0026 a0001c0009t0053g0006 a0001c0010t0008g0069 a0001c0011t0025g0052 a0001c0012t0028g0133 a0001c0023t0001g0049 a0001c0024t0069g0106 a0001c0026t0001g0037 a0001c0027t0009g0148 a0001c0030t0001g0066 a0001c0032t0001g0050 a0001c0033t0001g0178 a0001c0035t0067g0045 a0002c0014t0002g0101 a0002c0014t0002g0102 a0004c0025t0044g0061 a0008c0020t0038g0056 a0009c0021t0001g0117	116	225	0.5156	-210	c.94+ others(15): Show c.94+4611_94+4820del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(203): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG02451.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	367	0.0054	-210	c.-28 others(11): Show c.-2881_-2672del		HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding					2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052787	GGGGGTTA others(203): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG02523.hp2 others(7): Show HG00558.hp2 HG01261.hp1 HG02523.hp2 HG02818.hp2 HG03654.hp1 HG03831.hp2 NA18522.hp1 NA18747.hp2 NA18955.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0003 a0002c0003t0021	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0007g0002 a0001c0001t0008g0001 a0001c0001t0011g0002 a0001c0001t0012g0001 a0001c0002t0003g0001 a0002c0003t0021g0004	10	341	0.0293	-210	c.-24 others(11): Show c.-2471_-2262del		HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding					2315		chr17	TogoVar
ITGB2_chr21_44880953_44925899	44885313	TGGCTGGA others(203): Show TGGCTGGAGAGGAGGTGTAGACGGCTGGAGGGGAGGTGTAGACTGCTGGA GGGGAGGTGCAGACGGCTGGAGAAGAGGTGTAGACAGCTGGAGGGGAGGT GTAGACTGCTGGAGGGGAGGTGTAGATGGCTGGAGAAGAGGTGTAGATGG CTGGAGGGGAGGTGTAGACTGCTGGAGGGGAGGTGTAGACGGCTGGAGAA GAGGTGTAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	436	0.0023	-210	c.84 others(10): Show c.845_*1054del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					639		chr21	TogoVar
JAZF1_chr7_27825577_28185795	27909086	TGCAGCCT others(203): Show TGCAGCCTCGACCTGCTGGGCTCAAGCAATCTTCCTGCCTCAGCCTCTTG AGTAGCTAGGACTATAGTTGCACACCACCAGGCCCTGCTAATTTTGAATA ACCACCCAGGCCCTGCTAATTTTGAATAACCACTTTCTTTTTTTAATTGA AGAAATGTGAAGTTCCATGCCTCCTCTTCTGCCTACTGAAGGTTAACCCA ATTAGTCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02145.hp2 others(8): Show HG01243.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02895.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0129 others(8): Show a0001c0001t0001g0092 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0157 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0004g0103 a0001c0001t0004g0192 a0001c0001t0008g0101	11	204	0.0539	-210	c.189 others(19): Show c.189-13880_189-13671del		JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4						chr7	TogoVar
KIF27_chr9_83829099_83926432	83848046	CATATATC others(203): Show CATATATCTATATATCATATATATGATATATGATATATCATATATATGAT ATATATGATATCTCATATCTGATATATCTGATATCTCATATATGATATAT CTGATATATCATATATGATATATCTGATATATCATATATGATATATATGA TATATCAGATATGATATATATGATATATCAGATATGATATATATGATATA TCAGATATGAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00597.hp1 others(40): Show HG00323.hp1 HG00438.hp1 HG00597.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02965.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG04115.hp1 HG04204.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp2 NA19010.hp2 NA19043.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19085.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0015	a0002c0003 a0006c0027 a0009c0025 others(1): Show a0002c0003 a0006c0027 a0009c0025 a0015c0026	a0002c0003t0001 a0002c0003t0005 a0002c0003t0012 others(3): Show a0002c0003t0001 a0002c0003t0005 a0002c0003t0012 a0006c0027t0001 a0009c0025t0016 a0015c0026t0001	a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0042 others(40): Show a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0042 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0052 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0005g0016 a0002c0003t0005g0054 a0002c0003t0005g0075 a0002c0003t0005g0084 a0002c0003t0012g0061 a0006c0027t0001g0080 a0009c0025t0016g0053 a0015c0026t0001g0056	43	332	0.1295	-210	c.355 others(19): Show c.3556+1843_3556+2052del		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KRTAP4-11_chr17_41112181_41123373	41117902	GCTGGGGT others(203): Show GCTGGGGTGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACTGGG GTCTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATG CAGCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACATAGACTGGCAGCA CTGGGGCTTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGG AGATGCAGCAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01934.hp2 HG01934.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0000 a0011c0010t0002g0000	1	426	0.0023	-210	c.204 others(7): Show c.204_413del	p.Arg others(12): Show p.Arg68_Pro137del	KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding	1/1	471/1193	204/588	68/195			chr17	TogoVar
MAGEC1_chrX_141898894_141914374	141906015	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATT CCTGTGAGCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	-210	c.631 others(7): Show c.631_840del	p.Leu others(13): Show p.Leu211_Leu280del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	917/4256	631/3429	211/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	ATTTTCCA others(203): Show ATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGC CCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	308	0.0032	-210	c.685 others(7): Show c.685_894del	p.Ala others(13): Show p.Ala229_Phe298del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906119	CCCTCCTC others(203): Show CCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAG AACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTG TGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGAT TCCTGTGAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18950.hp1 NA18950.hp1	a0097 a0097	a0097c0118 a0097c0118	a0097c0118t0001 a0097c0118t0001	a0097c0118t0001g0001 a0097c0118t0001g0001	1	226	0.0044	-210	c.736 others(7): Show c.736_945del	p.Leu others(13): Show p.Leu246_Leu315del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1022/4256	736/3429	246/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAK_chr6_10757723_10843539	10786382	GCACCAGT others(203): Show GCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTC CTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCA CTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTC ACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCA CTCCACTAATT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG03041.hp1 others(3): Show HG02280.hp2 HG02451.hp2 HG03041.hp1 HG03195.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 others(3): Show a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0231	6	270	0.0222	-210	c.131 others(19): Show c.1317-2020_1317-1811del		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14						chr6	TogoVar
MAP2K5_chr15_67537703_67812114	67609465	ATAGATTC others(203): Show ATAGATTCTGTAGACCTATTCTATAGGTCTATAGATTCTGTAGACCTATT CTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTG TAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCT GTAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATT CTATAGGTCTG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	275	0.0036	-210	c.545 others(17): Show c.545+8751_545+8960del		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr15	TogoVar
MOBP_chr3_39462680_39508027	39468792	GTGTATAT others(203): Show GTGTATATATACATATGTGTGTGTATACATATTACATATGTGTGTATATA TACATATATACATGAGTGTGTATATATACATATATACATATGTGTGTGTA TATATACATATATACATATGAGTGTGTATATATACATATATACATTGTGT GTATATATACATATATACATATGTGTGTGTATATATACATATATACATAT GTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02280.hp2 others(5): Show HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03490.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0166 a0001c0001t0003g0152 a0001c0001t0003g0153 others(4): Show a0001c0001t0002g0166 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0004g0043 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0006g0214	8	267	0.0300	-210	c.-89 others(17): Show c.-89+1054_-89+1263del		MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
MROH2A_chr2_233773330_233838418	233790460	TCCTCCCT others(203): Show TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTTCCTTTT TAATTGCCTGCCTTACTTACTCTTTCCCCTCCCTCCCCCTTTCTTTTTCT CCTTCCTTCCTTCCTTCCTCCCTCCCCTCCCCTTTCCCTCACCTCCCCTC CCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG02886.hp2 others(13): Show HG02109.hp2 HG02280.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG04199.hp1 HG06807.hp2 NA18949.hp2 NA18990.hp1 NA19043.hp2 NA19065.hp2 NA20300.hp1 NA20752.hp1	a0001 a0016 a0023 others(8): Show a0001 a0016 a0023 a0029 a0040 a0069 a0082 a0085 a0095 a0108 a0117	a0001c0001 a0001c0013 a0001c0027 others(11): Show a0001c0001 a0001c0013 a0001c0027 a0016c0021 a0023c0047 a0023c0154 a0029c0119 a0040c0112 a0069c0158 a0082c0153 a0085c0131 a0095c0129 a0108c0111 a0117c0152	a0001c0001t0001 a0001c0013t0001 a0001c0027t0001 others(11): Show a0001c0001t0001 a0001c0013t0001 a0001c0027t0001 a0016c0021t0002 a0023c0047t0002 a0023c0154t0002 a0029c0119t0001 a0040c0112t0002 a0069c0158t0002 a0082c0153t0002 a0085c0131t0002 a0095c0129t0002 a0108c0111t0001 a0117c0152t0002	a0001c0001t0001g0285 a0001c0013t0001g0107 a0001c0013t0001g0108 others(13): Show a0001c0001t0001g0285 a0001c0013t0001g0107 a0001c0013t0001g0108 a0001c0027t0001g0221 a0016c0021t0002g0021 a0023c0047t0002g0024 a0023c0047t0002g0026 a0023c0154t0002g0022 a0029c0119t0001g0171 a0040c0112t0002g0020 a0069c0158t0002g0023 a0082c0153t0002g0018 a0085c0131t0002g0028 a0095c0129t0002g0019 a0108c0111t0001g0287 a0117c0152t0002g0025	16	307	0.0521	-210	c.571 others(15): Show c.571+454_571+663del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1F_chr19_8515778_8582442	8543687	GTGGTGGT others(203): Show GTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCT GGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC TGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGT GGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	321	0.0031	-210	c.152 others(17): Show c.1524+400_1524+609del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO7A_chr11_77123246_77220241	77213459	ATTCCTGG others(203): Show ATTCCTGGCTGTCCTCTGTGTCTTGGTCATTCCTTCCCGGACCCTTTGGT GCCTGCTCCTGTACACCGTGTTTCCCAAGGTTCTGCCCTGTCTTCTTCTT GGCTCCCTCCTCAAACTCTCCCTGGACCATCTCATTCAGGCCACGGTGTC AGTTCCCTCAGGTCTCCCAATTTCCGAGTTCTGGCCCCAAGTACCCAACA GCCTCCTAGAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0333 a0001c0068t0001g0333	1	354	0.0028	-210	c.643 others(17): Show c.6439-393_6439-184del		MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	47/48					INFO_REALIGN_3_PRIME	chr11	TogoVar
MYOM2_chr8_2040046_2150456	2085573	CTGTTGTG others(203): Show CTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0072 a0072	a0072c0155 a0072c0155	a0072c0155t0001 a0072c0155t0001	a0072c0155t0001g0270 a0072c0155t0001g0270	1	402	0.0025	-210	c.164 others(17): Show c.1644+184_1644+393del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36						chr8	TogoVar
NLRP3_chr1_247411173_247453817	247433769	GTGTGTCC others(203): Show GTGTGTCCTGATGCATTCTCTATTCCAGAGCTCTCTGGTCAGGTGTGTCC TGATGCTTTCTCTATTCCAGAGCTCTCTTGTCAGGTGTGTCCTGATGCTT TCTCTATTCTGGAGCTCTCTGGTCAGATGTGTTCTGATGCTTTCTCTATT CCGGAGCTCTCTGGTCAGGTGTGTTCTGATGCTTTCTGTATTCCGGAGCT CTCTGATCAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp2 others(59): Show HG00099.hp2 HG00280.hp1 HG00597.hp2 HG00733.hp2 HG01099.hp1 HG01168.hp1 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03710.hp2 NA18612.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19058.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0017 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0011t0001 a0001c0017t0001 a0001c0021t0002	a0001c0001t0001g0320 a0001c0001t0001g0327 a0001c0001t0001g0329 others(49): Show a0001c0001t0001g0320 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0371 a0001c0001t0002g0334 a0001c0001t0003g0009 a0001c0001t0003g0328 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0002t0001g0118 a0001c0002t0001g0168 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0002g0005 a0001c0002t0002g0114 a0001c0002t0002g0220 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0234 a0001c0004t0001g0001 a0001c0004t0001g0106 a0001c0004t0001g0117 a0001c0004t0001g0140 a0001c0004t0001g0159 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0175 a0001c0004t0001g0177 a0001c0004t0001g0182 a0001c0004t0002g0160 a0001c0004t0002g0171 a0001c0004t0002g0172 a0001c0004t0002g0173 a0001c0004t0002g0174 a0001c0004t0002g0176 a0001c0004t0002g0179 a0001c0004t0002g0181 a0001c0011t0001g0020 a0001c0017t0001g0178 a0001c0021t0002g0306	62	438	0.1416	-210	c.232 others(17): Show c.2322-328_2322-119del		NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535464	CGGGGAGC others(203): Show CGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCATGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCA GGGTGGGTCGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG02257.hp2 others(8): Show HG00741.hp1 HG01884.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0014 a0001c0027 a0001c0052 a0001c0054 a0001c0055 a0013c0032	a0001c0001t0004 a0001c0004t0028 a0001c0005t0002 others(6): Show a0001c0001t0004 a0001c0004t0028 a0001c0005t0002 a0001c0014t0002 a0001c0027t0002 a0001c0052t0022 a0001c0054t0017 a0001c0055t0017 a0013c0032t0027	a0001c0001t0004g0037 a0001c0001t0004g0139 a0001c0004t0028g0177 others(8): Show a0001c0001t0004g0037 a0001c0001t0004g0139 a0001c0004t0028g0177 a0001c0005t0002g0038 a0001c0014t0002g0091 a0001c0027t0002g0137 a0001c0027t0002g0138 a0001c0052t0022g0030 a0001c0054t0017g0031 a0001c0055t0017g0035 a0013c0032t0027g0136	11	277	0.0397	-210	c.140 others(17): Show c.140+8350_140+8559del		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NPS_chr10_127544309_127558540	127556834	CTTGCAGG others(203): Show CTTGCAGGACTTTTGTTTTTCCTCTGAGTGAAAGAGGAAACCACTGGAGG GTTTTTAAGCAAAGAAATGACATATCAAATGTATTTTTGGTTTTCATAAA TTCCTAAGAGTGAAAACGAAAATACACACCTAGCAGGTTTTAATAAAAGT AGGAGTGATTCGTGGTGTGAATGACATCCAGCAACACGAATTCTCTCCTT GCTTGCCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	462	0.0022	-210	c.41 others(11): Show c.4196_*4405del		NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding					3295		chr10	TogoVar

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