Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
FOXN3_chr14_89151177_89422233	89361849	AGCACTAC others(149): Show AGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTC CACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCACTA CCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGC ACCACCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	230	0.0044	-156	c.544 others(19): Show c.544-11197_544-11042del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FTCD_chr21_46131779_46160579	46134419	CAGGTTTA others(149): Show CAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGG GTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTT TAGGGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0083 a0001c0002t0006g0083	1	230	0.0044	-156	c.24 others(11): Show c.2412_*2567del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2359		chr21	TogoVar
FTCD_chr21_46131779_46160579	46134467	GAGGGTGA others(149): Show GAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGA GGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0082 a0001c0002t0006g0082	1	230	0.0044	-156	c.23 others(11): Show c.2364_*2519del		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					2311		chr21	TogoVar
FZR1_chr19_3501311_3543334	3528660	AGAATGGA others(149): Show AGAATGGATGAGAGAGTGGATGGGTGAGCGGATGAGAGAGTGGATGGGTG AGCAGATTAGGGAGTGGATGGGTGAGTGGATGGGAGAGTGGGTGGGTGTG TGGATGGGTGCGTGGATGGGTGCGTGGATGGGAGAGTGGATGGGTACGTG GATGGGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02300.hp1 HG02602.hp1 HG00099.hp2 HG02300.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0006 a0001c0009t0006 a0001c0001t0006 a0001c0009t0006	a0001c0001t0006g0042 a0001c0001t0006g0074 a0001c0009t0006g0073 a0001c0001t0006g0042 a0001c0001t0006g0074 a0001c0009t0006g0073	3	314	0.0096	-156	c.654 others(16): Show c.654+849_654+1004del		FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GADL1_chr3_30721197_30899661	30778146	CAAAAAGA others(149): Show CAAAAAGAAAAATACCATTTACTTATTACTTACCAAATTAAGTTTTGCCC AGAACTCGGGTCCTTCTTCCATCTCTCTGAGGCTCGGTGGAATGTACCAA AAGCAAATATTGGCATATTCAGGCTGAGAATTAGAAAAAATATAAAGTTG TTATCTT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp1 NA19002.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0269 a0008c0011t0003g0269	1	282	0.0036	-156	c.130 others(15): Show c.1303-34_1392+32del		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/15						chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	TCCCCCTC others(149): Show TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01346.hp2 NA18954.hp2 HG00544.hp1 HG01346.hp2 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0184 a0001c0001t0002g0001 a0002c0002t0002g0085 a0001c0001t0001g0184 a0001c0001t0002g0001 a0002c0002t0002g0085	3	314	0.0096	-156	c.10 others(11): Show c.1049_*1204del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805247	CTCCCTCC others(149): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02132.hp1 HG03453.hp1 HG02055.hp2 HG02132.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0060 a0003c0011t0001g0118 a0001c0001t0001g0012 a0001c0001t0001g0060 a0003c0011t0001g0118	3	314	0.0096	-156	c.10 others(11): Show c.1082_*1237del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					961		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807251	CCACCTTC others(149): Show CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG02280.hp1 others(3): Show HG00408.hp1 HG00639.hp2 HG02280.hp1 HG02809.hp2 NA19030.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0128 a0001c0001t0002g0176 a0001c0001t0002g0181 others(3): Show a0001c0001t0001g0128 a0001c0001t0002g0176 a0001c0001t0002g0181 a0002c0002t0001g0018 a0002c0002t0001g0105 a0003c0003t0001g0072	6	314	0.0191	-156	c.30 others(11): Show c.3086_*3241del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2965		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807904	CAGCCCAG others(149): Show CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTC CCCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA19240.hp1 NA18612.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0047 a0001c0001t0001g0012 a0001c0001t0002g0047	2	314	0.0064	-156	c.37 others(11): Show c.3739_*3894del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3618		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807919	TGCAGGCC others(149): Show TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGG GACCTCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	314	0.0032	-156	c.37 others(11): Show c.3754_*3909del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3633		chr2	TogoVar
GNG12_chr1_67696475_67838467	67710038	TTATATAT others(149): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATAGTTATATATATAGTTATATATATAG TTATATATATATAGTTATATATATATAGTTATATATATATAGTTATATAT ATAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG06807.hp2 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0161 a0001c0001t0006g0049 a0001c0001t0006g0161	2	274	0.0073	-156	c.-26 others(17): Show c.-26-2482_-26-2327del		GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3						chr1	TogoVar
GOLGA3_chr12_132763914_132833869	132776347	CTCCTTCC others(149): Show CTCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGAGCCTCACACAGGTAC CCGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTCCCG CCTGTACCCAGCGCCTCACACACAGGTACCCGCAGCAGCTGCTGTAGCCC CTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0012 a0020c0030t0012	a0020c0030t0012g0228 a0020c0030t0012g0228	1	308	0.0033	-156	c.397 others(17): Show c.3978+131_3978+286del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132776375	ACCCAGAG others(149): Show ACCCAGAGCCTCACACAGGTACCCGCAGCAGCTGCTGTAGCCCCTCCAGC TCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGCGCCTCACACACAGGTA CCCGCAGCAGCTGCTGTAGCCCCTCCAGTTCCTTCCTCCCTGCTGCTCCC GCCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(73): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00735.hp1 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0010 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0011 others(10): Show a0001c0001 a0001c0003 a0001c0011 a0001c0026 a0001c0027 a0001c0034 a0002c0007 a0003c0004 a0005c0006 a0010c0039 a0015c0021 a0016c0032 a0017c0022	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 others(20): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0001t0025 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0003t0001 a0001c0011t0001 a0001c0026t0001 a0001c0027t0001 a0001c0034t0001 a0002c0007t0076 a0003c0004t0001 a0003c0004t0025 a0005c0006t0001 a0010c0039t0010 a0015c0021t0068 a0016c0032t0001 a0017c0022t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(73): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0010g0082 a0001c0001t0010g0083 a0001c0001t0010g0089 a0001c0001t0010g0244 a0001c0001t0024g0094 a0001c0001t0024g0095 a0001c0001t0025g0040 a0001c0001t0066g0031 a0001c0001t0067g0044 a0001c0001t0069g0032 a0001c0001t0071g0050 a0001c0001t0072g0075 a0001c0001t0073g0041 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0167 a0001c0011t0001g0061 a0001c0026t0001g0099 a0001c0027t0001g0085 a0001c0034t0001g0062 a0002c0007t0076g0076 a0003c0004t0001g0270 a0003c0004t0001g0279 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0025g0280 a0005c0006t0001g0021 a0010c0039t0010g0033 a0015c0021t0068g0072 a0016c0032t0001g0034 a0017c0022t0001g0025	76	308	0.2468	-156	c.397 others(17): Show c.3978+103_3978+258del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23						chr12	TogoVar
GPC6_chr13_93221807_94413020	93454323	TGTTCTCC others(149): Show TGTTCTCCAAGGCCCCACCAGAGTAGCTAGATAGTGTCGATTGGTGCACT CACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCT TGAGCTAGAGACAGAGTGCAGATTGGTGTATTTACAATCCCTGAGCTAGA CATAAAG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG01496.hp2 others(7): Show HG01167.hp1 HG01433.hp2 HG01496.hp2 HG01975.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03579.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0029 a0001c0003t0030	a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0004g0067 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0004g0067 a0001c0001t0005g0057 a0001c0001t0010g0051 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0016g0035 a0001c0001t0029g0007 a0001c0003t0030g0024	10	76	0.1316	-156	c.161 others(19): Show c.161-90907_161-90752del		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GRIA2_chr4_157215728_157371075	157256142	GTAATATT others(149): Show GTAATATTATATATTACATATATATGTTATATATTATATATAATATATAA CATATATTACATATATATGTTATATATAATATATAATATATAATATATAT ATATAATATATAAATTATATATTACATATATATGTTATATATTACATATA TTATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03579.hp2 HG03041.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	3	216	0.0139	-156	c.229 others(19): Show c.229+34363_229+34518del		GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GTPBP4_chr10_983434_1024932	1010037	ATTGTTTC others(149): Show ATTGTTTCCTGTTGTTTTGGGATGGTGGGGTGATTTCTGTAGCTTTCTCC ACGTGTGGGTGTTGAATGAGGCTGATGTGTTGTTTCCTGTTGTTTTGGGA TGGTGGGGTGATTTCTGTAGCTTTCTCCACGTGTGGGTGTTGAATGAGGC TGATGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(86): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02132.hp2 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0002 a0001c0012 a0003c0006 others(2): Show a0001c0002 a0001c0012 a0003c0006 a0008c0013 a0009c0011	a0001c0002t0002 a0001c0002t0014 a0001c0002t0025 others(7): Show a0001c0002t0002 a0001c0002t0014 a0001c0002t0025 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0012t0002 a0003c0006t0002 a0008c0013t0002 a0009c0011t0014	a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 others(69): Show a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0042 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0014g0004 a0001c0002t0014g0115 a0001c0002t0025g0022 a0001c0002t0039g0070 a0001c0002t0040g0165 a0001c0002t0041g0121 a0001c0012t0002g0169 a0003c0006t0002g0023 a0008c0013t0002g0133 a0009c0011t0014g0118	89	370	0.2405	-156	c.124 others(17): Show c.1244-301_1244-146del		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
HACL1_chr3_15555699_15606569	15592512	ACTTGTAT others(149): Show ACTTGTATACATATACACATGTATACACATGTACGCACATGTGTGCGTGT ATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGT GCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCAC ATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	428	0.0023	-156	c.228 others(15): Show c.228-988_228-833del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HAUS1_chr18_46099385_46133333	46112368	GTATATAT others(149): Show GTATATATATTCCATATTATATATATAATATATATAATGTGTATATATTC CATATTATATATATAATATATATAATGTGTATATATTCCATATTATATAT ATAATATATATAATGTGTATATATTCCATATTATATATATAATATATATA ATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 NA18522.hp1 others(1): Show HG02451.hp2 HG02559.hp1 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0283 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0283	4	372	0.0108	-156	c.206 others(17): Show c.206-5805_206-5650del		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HCN2_chr19_584881_622159	605325	TCAGAGGT others(149): Show TCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGC CCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGG GCCCTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01243.hp1 others(44): Show HG00423.hp1 HG00673.hp1 HG01243.hp1 HG01358.hp1 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp2 NA18948.hp2 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19043.hp1 NA19064.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0009 a0013 a0019	a0001c0001 a0001c0006 a0001c0014 others(21): Show a0001c0001 a0001c0006 a0001c0014 a0001c0018 a0001c0022 a0001c0041 a0001c0042 a0001c0076 a0001c0078 a0001c0108 a0001c0113 a0001c0114 a0001c0115 a0002c0016 a0002c0027 a0002c0035 a0002c0050 a0002c0060 a0003c0029 a0003c0089 a0007c0095 a0009c0061 a0013c0090 a0019c0122	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0014t0003 a0001c0018t0001 a0001c0018t0002 a0001c0018t0020 a0001c0022t0001 a0001c0041t0001 a0001c0042t0004 a0001c0076t0001 a0001c0078t0008 a0001c0108t0004 a0001c0113t0006 a0001c0114t0004 a0001c0115t0004 a0002c0016t0001 a0002c0016t0006 a0002c0027t0003 a0002c0035t0005 a0002c0050t0002 a0002c0060t0003 a0003c0029t0002 a0003c0029t0004 a0003c0089t0003 a0007c0095t0001 a0009c0061t0001 a0013c0090t0001 a0019c0122t0004	a0001c0001t0001g0136 a0001c0001t0002g0091 a0001c0006t0001g0070 others(44): Show a0001c0001t0001g0136 a0001c0001t0002g0091 a0001c0006t0001g0070 a0001c0006t0001g0214 a0001c0006t0002g0073 a0001c0006t0002g0216 a0001c0006t0004g0072 a0001c0014t0003g0071 a0001c0014t0003g0076 a0001c0014t0003g0204 a0001c0014t0003g0215 a0001c0018t0001g0040 a0001c0018t0002g0052 a0001c0018t0002g0053 a0001c0018t0020g0058 a0001c0022t0001g0075 a0001c0022t0001g0152 a0001c0022t0001g0227 a0001c0041t0001g0019 a0001c0041t0001g0099 a0001c0042t0004g0015 a0001c0076t0001g0029 a0001c0078t0008g0031 a0001c0108t0004g0043 a0001c0113t0006g0042 a0001c0114t0004g0041 a0001c0115t0004g0062 a0002c0016t0001g0252 a0002c0016t0001g0293 a0002c0016t0001g0306 a0002c0016t0001g0314 a0002c0016t0001g0337 a0002c0016t0006g0292 a0002c0027t0003g0297 a0002c0027t0003g0313 a0002c0027t0003g0351 a0002c0035t0005g0343 a0002c0050t0002g0361 a0002c0060t0003g0309 a0003c0029t0002g0103 a0003c0029t0002g0105 a0003c0029t0004g0104 a0003c0089t0003g0106 a0007c0095t0001g0211 a0009c0061t0001g0356 a0013c0090t0001g0118 a0019c0122t0004g0102	47	408	0.1152	-156	c.121 others(17): Show c.1218+155_1218+310del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605377	ACAGAGGT others(149): Show ACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGC CCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGG GCCCTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0256 a0002c0012t0004g0256	1	408	0.0025	-156	c.121 others(17): Show c.1218+214_1218+369del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605436	CGGGGACC others(149): Show CGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGA GGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTTCA GAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTT CAGAGGT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0245 a0001c0031t0001g0245	1	408	0.0025	-156	c.121 others(17): Show c.1218+311_1218+466del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HPS6_chr10_102060349_102073036	102062486	ACCTGTGA others(149): Show ACCTGTGATACCAGCTACTCGGGAGGCTGAGGTGGAAGAATTGCTTGATC CCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGC CTGGGGAGACAGCAAGACTCTGTCTAAAAAAAAAAAAAAAAAAGTCGTGC TTCCTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-156	c.-29 others(11): Show c.-2988_-2833del		HPS6	ENSG00000166189.8	transcript	ENST00000299238.7	protein_coding					2862		chr10	TogoVar
HS3ST1_chr4_11388150_11433894	11392509	ATAAACTT others(149): Show ATAAACTTCTAAATTCATGTCTTCAGAATCCGAGGTCAGCGCTCTTTTCA GTATGCCAACATGAGAAAGTGGTATTAGACCTGTTCATTATGGCACTGTG TGGTAGAACTCAGATGCATGAGAGAAAGCTGGGGGATGTAGGTCGAGGTA CAGTAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0398 a0001c0001t0063g0398	1	440	0.0023	-156	c.64 others(11): Show c.6417_*6572del		HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding					640		chr4	TogoVar
IL19_chr1_206765773_206847981	206781909	ATATGTAT others(149): Show ATATGTATATAGTTATATATACATATATATGTATATAGTTATATATACAT ATATATGTATATGTTATATATACATATATATGTATATGTTATATATACAT ATATATGTATATAGTTATATATACATATATATGTATATAGTTATATATAC ATATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01433.hp2 others(5): Show HG00280.hp2 HG01175.hp1 HG01433.hp2 HG01891.hp2 HG02132.hp1 HG03490.hp1 HG03492.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006	a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0069 a0002c0002t0002g0010 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0006g0061	8	366	0.0219	-156	c.-14 others(21): Show c.-149+10833_-149+10988del		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5A_chr10_132532787_132788480	132665568	GTGAATTG others(149): Show GTGAATTGCTTGAGCTTAGGAGTAATCCCAGCACTCTGGGAGGCTGAGGC AGGTGAATTGCTTGAGCTTAGGAGTAATCCCAGCACTCTGGGAGGCTGAG GCAGGTGAATTGCTTGAGTTTAGGAGTAATCCCAGCACTCTGGGAGGCTG AGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp1 HG02897.hp1 others(2): Show HG02109.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0005t0001	a0001c0001t0002g0082 a0001c0003t0001g0080 a0001c0003t0002g0081 others(2): Show a0001c0001t0002g0082 a0001c0003t0001g0080 a0001c0003t0002g0081 a0001c0005t0001g0185 a0001c0005t0001g0186	5	204	0.0245	-156	c.306 others(19): Show c.306+15181_306+15336del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IRF4_chr6_386752_416443	396545	AATGCCAG others(149): Show AATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTC TCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCG TCTCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTACCCC CGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	460	0.0022	-156	c.493 others(15): Show c.493-511_493-356del		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396639	CCCCCGTC others(149): Show CCCCCGTCTCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTT TACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCC TTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACT CCTTTAA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0173 a0001c0001t0041g0173	1	460	0.0022	-156	c.493 others(15): Show c.493-445_493-290del		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396701	GATGCCAG others(149): Show GATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTC TCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTAACCCCG TCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCC CGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02451.hp1 HG02886.hp2 HG03130.hp2 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0052	a0001c0001t0002g0134 a0001c0001t0005g0038 a0001c0001t0007g0119 others(3): Show a0001c0001t0002g0134 a0001c0001t0005g0038 a0001c0001t0007g0119 a0001c0001t0014g0120 a0001c0001t0014g0135 a0001c0001t0052g0038	6	460	0.0130	-156	c.493 others(15): Show c.493-393_493-238del		IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNMB2_chr3_178531436_178849429	178759921	TCCAAGAG others(149): Show TCCAAGAGGATATATCTATATATATATATATCCAAGAGGATATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATCTATATATATATATATATATATCCAAGAGGATATATCTATATATATA TATATAG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG03491.hp2 others(3): Show HG01069.hp1 HG01261.hp1 HG03491.hp2 HG03834.hp1 NA18612.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0063 a0001c0001t0002g0138 a0001c0001t0002g0191	6	232	0.0259	-156	c.-67 others(19): Show c.-67-47391_-67-47236del		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KLK4_chr19_50901351_50916395	50913722	GTCTCTCT others(149): Show GTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCAC CTGTGTGTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTCTGT CTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTGTCTCTGTCCATCTTTCT CTGTGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-156	c.-25 others(11): Show c.-2551_-2396del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2328		chr19	TogoVar
KRTAP10-10_chr21_44632356_44643455	44637641	ACCAGCAG others(149): Show ACCAGCAGTCTAGCTGCCAGCCGGATTGCTGCACCTCCTCCCCCTGCCAG CAGGCCTGCTGTGTGCCTGTCTGCTGTGTGCCCGTCTGCTGCGTGCCCGT CTGTAACAAGCCTGTGTGCTTCGTGCCTACCTGCTCCGAGTCTTCCCCTT CATGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02886.hp1 HG02886.hp1	a0037 a0037	a0037c0052 a0037c0052	a0037c0052t0002 a0037c0052t0002	a0037c0052t0002g0000 a0037c0052t0002g0000	1	438	0.0023	-156	c.246 others(7): Show c.246_401del	p.Asp others(12): Show p.Asp83_Pro134del	KRTAP10-10	ENSG00000221859.2	transcript	ENST00000380095.2	protein_coding	1/1	308/1100	246/756	82/251		INFO_REALIGN_3_PRIME	chr21	TogoVar
LCN15_chr9_136754634_136769518	136769362	TCCATGCA others(149): Show TCCATGCACTGCCCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACC CCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGC ACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCAC CCCGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00621.hp1 others(84): Show HG00099.hp2 HG00140.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp2 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp1 NA18952.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19056.hp1 NA19066.hp1 NA19067.hp2 NA19078.hp2 NA19080.hp1 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0004g0052	87	356	0.2444	-156	c.-50 others(11): Show c.-5030_-4875del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4845		chr9	TogoVar
LGR5_chr12_71434798_71591310	71563926	ATGTACAC others(149): Show ATGTACACACACACCGTGTATATATGCATATATACGTATCTGTACACACG CACTGTGTATATATGCATATATACGTATCTGTACACACGCACCGTGTATA TATGCATATATACGTATCTGTATACACGCACCGTGTATATATGCATATAT ACGTATC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 NA20129.hp2 HG02109.hp1 HG02723.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0001 a0001c0001t0007 a0001c0001t0016	a0001c0001t0001g0170 a0001c0001t0007g0191 a0001c0001t0016g0071 a0001c0001t0001g0170 a0001c0001t0007g0191 a0001c0001t0016g0071	3	200	0.0150	-156	c.857 others(17): Show c.857+2084_857+2239del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71563936	ACACCGTG others(149): Show ACACCGTGTATATATGCATATATACGTATCTGTACACACGCACTGTGTAT ATATGCATATATACGTATCTGTACACACGCACCGTGTATATATGCATATA TACGTATCTGTATACACGCACCGTGTATATATGCATATATACGTATCTGT ACACACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00609.hp1 others(51): Show HG00140.hp2 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02683.hp1 HG02698.hp2 HG02965.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 NA18612.hp1 NA18960.hp1 NA18966.hp2 NA18971.hp1 NA19002.hp2 NA19056.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0009 a0002c0003 others(1): Show a0001c0001 a0001c0009 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0009t0009 a0002c0003t0005 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0002g0029 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0114 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0003g0106 a0001c0001t0009g0005 a0001c0001t0017g0018 a0001c0009t0009g0009 a0002c0003t0005g0165 a0002c0003t0005g0175 a0002c0003t0005g0194 a0004c0004t0001g0044 a0004c0004t0002g0113	54	200	0.2700	-156	c.857 others(17): Show c.857+2127_858-2270del		LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
LMLN_chr3_197955217_198048720	198004869	ACATCTAT others(149): Show ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp2 HG02486.hp1 others(3): Show HG01934.hp1 HG02056.hp2 HG02486.hp1 HG02735.hp2 HG06807.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0001 a0001c0001t0005 a0001c0001t0018	a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0001g0198 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0215 a0001c0001t0005g0125 a0001c0001t0018g0048	6	258	0.0233	-156	c.131 others(19): Show c.1319+1900_1319+2055del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198005025	CCATCTAT others(149): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03209.hp2 HG03942.hp2 HG00280.hp1 HG03209.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0152 a0001c0001t0001g0192 a0001c0001t0001g0228	3	258	0.0116	-156	c.131 others(19): Show c.1319+2044_1319+2199del		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC56_chr11_532527_559912	541871	AGCACGCT others(149): Show AGCACGCTCAGTACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAG TACCCCACACACCCACGCCAGTACCCCCGGCACGCTCAGTACCCCACACA CCCACGCCAGTACCCCCGGCACGCTCAGTACCCCACACACCCACGCCAGT ACCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp2 others(38): Show HG00099.hp2 HG00280.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp2 HG02280.hp2 HG02602.hp2 HG02717.hp2 HG02738.hp2 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18747.hp2 NA18967.hp1 NA18978.hp2 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp2 NA19240.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0017 a0001c0001t0035 a0003c0003t0005 others(4): Show a0001c0001t0017 a0001c0001t0035 a0003c0003t0005 a0003c0003t0013 a0003c0003t0022 a0003c0003t0034 a0004c0004t0008	a0001c0001t0017g0141 a0001c0001t0017g0142 a0001c0001t0035g0108 others(32): Show a0001c0001t0017g0141 a0001c0001t0017g0142 a0001c0001t0035g0108 a0003c0003t0005g0007 a0003c0003t0005g0013 a0003c0003t0005g0027 a0003c0003t0005g0028 a0003c0003t0005g0106 a0003c0003t0005g0111 a0003c0003t0005g0116 a0003c0003t0005g0124 a0003c0003t0005g0125 a0003c0003t0005g0126 a0003c0003t0005g0128 a0003c0003t0005g0143 a0003c0003t0005g0263 a0003c0003t0013g0112 a0003c0003t0013g0119 a0003c0003t0013g0120 a0003c0003t0013g0127 a0003c0003t0022g0105 a0003c0003t0022g0140 a0003c0003t0034g0028 a0004c0004t0008g0107 a0004c0004t0008g0109 a0004c0004t0008g0110 a0004c0004t0008g0113 a0004c0004t0008g0114 a0004c0004t0008g0115 a0004c0004t0008g0117 a0004c0004t0008g0118 a0004c0004t0008g0121 a0004c0004t0008g0122 a0004c0004t0008g0123 a0004c0004t0008g0146	41	387	0.1059	-156	c.265 others(15): Show c.265+376_265+531del		LRRC56	ENSG00000161328.11	transcript	ENST00000270115.8	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
LYNX1_chr8_142766202_142782202	142777477	CCCCGGAC others(149): Show CCCCGGACCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGCCC CGCCCCGGACCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAGGC CCCGCCCCGGACCCGCCTCCTGGGCACCCGCCGAGCCGAGTTCACCGCAG GCCTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp1 NA18522.hp1 HG02280.hp2 HG02559.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0001 a0001c0001t0059g0077 a0001c0001t0001g0001 a0001c0001t0059g0077	3	444	0.0068	-156	c.-69 others(9): Show c.-692_-537del		LYNX1	ENSG00000180155.20	transcript	ENST00000652477.1	protein_coding					276		chr8	TogoVar
MAFF_chr22_38196994_38221507	38217144	TGGTGAAA others(149): Show TGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACAACAACAACAAAAA AAAAACATGGCCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCTGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGG CTAACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(99): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18977.hp1 NA18982.hp1 NA18990.hp2 NA18991.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp1 NA19090.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0002c0002t0002 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0011 others(57): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0054 a0001c0001t0010g0061 a0001c0001t0010g0066 a0001c0001t0010g0082 a0001c0001t0011g0123 a0001c0001t0011g0184 a0001c0001t0012g0003 a0001c0001t0012g0013 a0001c0001t0016g0150 a0001c0001t0017g0151 a0001c0001t0024g0059 a0001c0001t0026g0078 a0001c0001t0028g0011 a0002c0002t0002g0006 a0003c0004t0002g0085	102	388	0.2629	-156	c.22 others(11): Show c.2267_*2422del		MAFF	ENSG00000185022.12	transcript	ENST00000338483.7	protein_coding					638		chr22	TogoVar
MAFF_chr22_38196994_38221507	38217260	GGATCACG others(149): Show GGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAACAACAACAACAAAAAAAAAACATGG CCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAG GCAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00639.hp2 others(83): Show HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp2 NA18946.hp2 NA18955.hp2 NA18972.hp2 NA18975.hp1 NA18980.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19059.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021	a0001c0001t0004g0010 a0001c0001t0004g0022 a0001c0001t0004g0023 others(56): Show a0001c0001t0004g0010 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0042 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0177 a0001c0001t0004g0193 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0021 a0001c0001t0005g0038 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0006g0016 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0040 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0133 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0008g0037 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0013g0016 a0001c0001t0013g0048 a0001c0001t0015g0098 a0001c0001t0021g0108	86	388	0.2217	-156	c.23 others(11): Show c.2383_*2538del		MAFF	ENSG00000185022.12	transcript	ENST00000338483.7	protein_coding					754		chr22	TogoVar
MAP3K15_chrX_19355059_19520508	19452225	GAAGAGAA others(149): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAG AGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	163	0.0061	-156	c.995 others(17): Show c.995+4532_995+4687del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785658	TCTTCTTT others(149): Show TCTTCTTTCTTTCTTTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC TTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0199 a0001c0001t0028g0200 a0001c0001t0028g0199 a0001c0001t0028g0200	2	310	0.0065	-156	c.124 others(17): Show c.124-5061_124-4906del		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32						chr2	TogoVar
METTL16_chr17_2411049_2516888	2446983	AGCCTCTG others(149): Show AGCCTCTGCCCAGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCT TGGCCACCCATCGTCTGGGATATGAGGAGCCTCTCTGCCTGGCTGCCCAG TCTGGAAAGTGAGGAGCGTCTCTGCCCGGCCGCCGTCCCATCTAGGAAGC GAGGAGC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0142 a0001c0001t0011g0142	1	298	0.0034	-156	c.729 others(17): Show c.729-5580_729-5425del		METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	6/9						chr17	TogoVar
METTL27_chr7_73829590_73847516	73835695	CCCTCTGC others(149): Show CCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGC CGCCATCCGACCTAGGAAGTGAGGAGCACCTCTGCCCGGCCGCCATCACA TCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATTGTCTGAGATGTG GGGAGCG	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0084 a0010c0008t0001g0084	1	372	0.0027	-156	c.479 others(15): Show c.479-849_479-694del		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	5/5						chr7	TogoVar
MLPH_chr2_237482251_237560322	237543137	AGTGAGTA others(149): Show AGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAGTGGGGGACA GTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGCA CAGTAGTGAGTAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGG GACAGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0034 a0034	a0034c0032 a0034c0032	a0034c0032t0002 a0034c0032t0002	a0034c0032t0002g0049 a0034c0032t0002g0049	1	286	0.0035	-156	c.153 others(17): Show c.1539+485_1539+640del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543408	GGACAGTA others(149): Show GGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGG GGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	-156	c.153 others(17): Show c.1539+750_1539+905del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543612	TGGGGGAC others(149): Show TGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01099.hp2 others(3): Show HG00099.hp1 HG00642.hp1 HG01099.hp2 NA18971.hp1 NA18981.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0001g0214 a0001c0001t0001g0218 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0004g0150 a0001c0001t0006g0145 a0001c0001t0006g0146	6	286	0.0210	-156	c.153 others(18): Show c.1539+958_1539+1113del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544986	GTGAATGG others(149): Show GTGAATGGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGT GGTGAGTGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAAT TATTGGGGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGA ATAGTTA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18980.hp1 NA18941.hp1 NA18980.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0010 a0005c0004t0001g0012	2	286	0.0070	-156	c.154 others(19): Show c.1540-1616_1540-1461del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545044	GGGACAGT others(149): Show GGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGGGG GGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTTAT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGCACAGT GGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0239	1	286	0.0035	-156	c.154 others(19): Show c.1540-1559_1540-1404del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499702	TGATGATG others(149): Show TGATGATGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGA TGGTGGA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0011 a0001c0008t0018g0011	1	250	0.0040	-156	c.748 others(17): Show c.748+1354_748+1509del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar