Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM132D_chr12_129066726_129909025	129088153	CGGGTGTC others(202): Show CGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCATG ACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCTA TGACTGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCCTC CATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTATGACCGGGTGTCC TCCATGACCG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0008 a0002c0003t0001 a0002c0003t0008	a0002c0003t0001g0025 a0002c0003t0008g0091 a0002c0003t0001g0025 a0002c0003t0008g0091	2	68	0.0294	-209	c.144 others(19): Show c.1444-3660_1444-3452del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129856475	AACGGGAT others(202): Show AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGAAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	92	0.0109	-209	c.79+ others(17): Show c.79+46577_79+46785del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSC22D2_chr3_150403298_150471422	150404160	ACTTTAAT others(202): Show ACTTTAATCAATACTTCAAATTCATATACAAGAAAGACTAGACAGTGATG ATTCACTTTGTCAAAGAATGTGCCATTGAATGTCTGTAAATAGCTCATCT ATGACAGAATATGGCTTCTCCATAAAATCATGGATGTCTAGTAACTGCTT TCTTCTTCTTTTTTCAATTAACAAATGGTATTGCCAATAGTATCACATTG AGTTGCTATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18939.hp2 NA18943.hp1 others(6): Show HG00438.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18974.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0056 a0001c0001t0001 a0001c0001t0029 a0001c0001t0056	a0001c0001t0001g0004 a0001c0001t0001g0248 a0001c0001t0029g0004 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0248 a0001c0001t0029g0004 a0001c0001t0029g0250 a0001c0001t0056g0004	9	402	0.0224	-209	c.-51 others(11): Show c.-5190_-4982del	TSC22D2	ENSG00000196428.13	transcript	ENST00000688009.1	protein_coding		4137		chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133291739	CCGTGTCC others(202): Show CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATG TCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCT CCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	274	0.0036	-209	c.121 others(17): Show c.1214+551_1214+759del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
YARS1_chr1_32770239_32822358	32804284	AGAGGGGC others(202): Show AGAGGGGCTCCTCACTTCCCAGACGGGGCGGCCGGTCAGAGGCACCCCCA ACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGTTGCCCCCCACCT CCCTCCTGGACAGGGCGGCTGGCCGGGCGGCGGCTGCCCCCCACCTCCCG GACGGGGCGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCGG CTGCCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	330	0.0030	-209	c.510 others(17): Show c.510+1989_510+2197del	YARS1	ENSG00000134684.13	transcript	ENST00000373477.9	protein_coding	4/12			chr1	TogoVar
AARSD1_chr17_42945526_42969454	42967012	GGAGGCCG others(201): Show GGAGGCCGAGGAAGGAGGCTTAAGGCCAGGAGTTTGAGAGCAGCCTGGGC AACAAGCAAATCTTTACAAAAAAATAGTTTGTCCTAAAGACAAGGTCTTT ACATATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATAATATATAAAATATATATTATATAATA TATAATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	322	0.0031	-208	c.-27 others(11): Show c.-2780_-2573del	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2559		chr17	TogoVar
ADGRD1_chr12_130948907_131146469	131037605	GTCTCACT others(201): Show GTCTCACTCACTGCACCAGGATCTTACTCACTGCATGGGGCCTCACTCAC TGCACCGGGTCTCACTCACTGCACTGGGTCTTACTCATTGCACTGGGTCT CACTCACTACACCAGGTCTCAGTCACTGCACTGGGTCTCACTCACTGCAC CAGGATCTTACTGCATGGGGCCGCACTCACTGCACCGGGTCTCACTCACT GCACCAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(19): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG02056.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 NA18992.hp2 NA19080.hp2 NA19089.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0017 a0004c0015 a0004c0016 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004 a0001c0004t0002 a0001c0004t0005 a0001c0017t0008 a0004c0015t0003 a0004c0015t0005 a0004c0016t0002 a0004c0016t0003 a0005c0011t0008	a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0130 others(19): Show a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0130 a0001c0001t0003g0023 a0001c0002t0001g0170 a0001c0002t0001g0202 a0001c0002t0003g0061 a0001c0002t0003g0076 a0001c0003t0004g0013 a0001c0003t0004g0189 a0001c0003t0004g0190 a0001c0003t0004g0191 a0001c0003t0004g0193 a0001c0004t0002g0131 a0001c0004t0005g0066 a0001c0017t0008g0029 a0001c0017t0008g0030 a0004c0015t0003g0052 a0004c0015t0005g0086 a0004c0016t0002g0065 a0004c0016t0003g0051 a0005c0011t0008g0047	22	240	0.0917	-208	c.147 others(21): Show c.1473+23269_1473+23476del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ALLC_chr2_3653200_3707671	3671525	AGGAGGTC others(201): Show AGGAGGTCCTCTGGCTCTGGTTAGATAGGAGGTCCTCTGGCTCTGGTTAG ATGGGAGGTCCTCTGGCTCTAGTTAGATGGGAGGTCCTCTGGCTCTGGTT AGATGGGAGGTCCCCTGGCTCTATTTAGATCCGAGGTCCTCTGGCTCTAT TTAGATCCGAGGTCCTCTGGCTCTAGTTAGACCTGTGGTCCTCTGGCTCT GGTTAGATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0023 a0002c0009t0002g0023	1	272	0.0037	-208	c.33+ others(13): Show c.33+361_33+568del	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1888457	GGGGTGAG others(201): Show GGGGTGAGGGGTATTGAGGAGACACTGAGTGGGGTAAGAAGTCTGTGGAG ATACTGAGTGGGGTGAGGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGGT ATGGGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAGT GTGGTGAGGTTTGTGAGGAAACACAGAGTGTGGTAAGGGTCCTGAGGAAA CACTGAGTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0268 a0001c0003t0026g0268	1	362	0.0028	-208	c.118 others(19): Show c.1182+2760_1182+2967del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049869	GGGGCAGA others(201): Show GGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGG CAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGA ACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0026 a0002c0003t0001g0026	1	281	0.0036	-208	c.46 others(11): Show c.4654_*4861del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2234		chr8	TogoVar
ATP2B4_chr1_203621832_203749081	203701009	ATGGTTGG others(201): Show ATGGTTGGAAGAATCTGCTGCCATGAAGAAAGCAGATATCCAAACTCCTT GCTGAGATAAAGATGTAAATCCTTGGCTCCAGGGAGCTCTGATGAAAACC AGATCCTGGCTCTAGGCTCCCAAATCAGGTTGAATTTGAGCCTTGATTTT TATGTCTAATGGTAGCTTGTAAAGGGATGAGTTATAAAGCCTGCCCTAAA TAAACTGGC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01943.hp2 HG01168.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0092 a0001c0001t0004g0303 a0001c0001t0001g0092 a0001c0001t0004g0303	2	316	0.0063	-208	c.901 others(14): Show c.901+88_901+295del	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	83004382	CACTCTCT others(201): Show CACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTC CGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGT GGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT CGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTC CCACTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0137 a0004c0017t0002g0137	1	266	0.0038	-208	c.459 others(15): Show c.459+525_459+732del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83055504	GGTTCCCT others(201): Show GGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGGGTGGGG AGACAGGTTCCCTGCAGGTCCCCACAGACAGTGTTAGACTCGGTGCTGGG TGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGCTGG GTGGGGAGACAGAGGTTCCCTGCAGGTCCCCACAGACAGTGTTAGACTCG GTGCTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00673.hp2 others(34): Show HG00423.hp1 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG02015.hp1 HG02027.hp1 HG02155.hp2 HG02280.hp2 HG02572.hp2 HG02698.hp1 HG03017.hp2 HG03195.hp1 HG03492.hp1 HG03579.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18967.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19070.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0003 a0001c0008 others(4): Show a0001c0002 a0001c0003 a0001c0008 a0001c0014 a0001c0020 a0002c0010 a0007c0018	a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 others(12): Show a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0015 a0001c0003t0021 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0014t0002 a0001c0020t0005 a0002c0010t0007 a0007c0018t0005	a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0130 others(33): Show a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0130 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0005g0224 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0009g0214 a0001c0003t0009g0222 a0001c0003t0015g0223 a0001c0003t0021g0221 a0001c0008t0004g0212 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0005g0210 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0008t0038g0217 a0001c0014t0002g0012 a0001c0020t0005g0220 a0002c0010t0007g0005 a0002c0010t0007g0196 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0209 a0002c0010t0007g0218 a0007c0018t0005g0199	37	266	0.1391	-208	c.-39 others(11): Show c.-3961_-3754del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3735		chr17	TogoVar
BANP_chr16_87946434_88082316	87999666	GCGGCTGT others(201): Show GCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCAC GCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCCC GCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCAC GCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCAC GCACGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00642.hp2 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0322 a0001c0002t0002g0323	2	350	0.0057	-208	c.363 others(17): Show c.363-4560_363-4353del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191424	CTGTGTGG others(201): Show CTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCC TGGCTGTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGC CTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGG CCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGC TGGCCTGGT	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp2 HG03516.hp2 HG02109.hp2 HG02280.hp2 HG03516.hp2	a0003 a0049 a0003 a0049	a0003c0022 a0049c0065 a0003c0022 a0049c0065	a0003c0022t0019 a0003c0022t0026 a0049c0065t0007 a0003c0022t0019 a0003c0022t0026 a0049c0065t0007	a0003c0022t0019g0024 a0003c0022t0026g0025 a0049c0065t0007g0201 a0003c0022t0019g0024 a0003c0022t0026g0025 a0049c0065t0007g0201	3	267	0.0112	-208	c.300 others(17): Show c.300-3548_300-3341del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191498	TGGGGTCT others(201): Show TGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGC ACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	289	0.0035	-208	c.300 others(17): Show c.300-3280_300-3073del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARM1_chr19_10866553_10928075	10880729	CAGTTTTG others(201): Show CAGTTTTGCAAAGGGGTAAAAGGACAAGAATCGGTAGCTGTGACTGTGGA TGAGCCTCTGAGCTTCACTTTCCCTCCCTGAAAGGGGGTGACAGTGGCAC CTCCCTGGAGGTTTTCGTGGAGGGGAGGAAACACATGTAAAATACTTCAC CCCAGTTGGGCACAGAGGCTCATGCCTGTAATCCCAGGTTTTGGGAGGCC GAGGCAGCA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	352	0.0028	-208	c.220 others(17): Show c.220+8808_220+9015del	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/15			chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88955462	CACCCAAG others(201): Show CACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCCAAGGCTC CTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCAGCC AAGGCTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGAC CCCACCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCACCCAAGGC TCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	282	0.0035	-208	c.151 others(19): Show c.151+20987_151+21194del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CDH4_chr20_61247261_61945617	61675289	ATGGAAAC others(201): Show ATGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCACTG CCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGCAC TCCCGTGGAAACAACCATCGTAGGGGCTGAGGCTTTGGGCTCAGCCAAGC ACTCCCGTGGAAACAACCATCGCAGGGGCTGAGGCTTTGGGCTCAGCCAA GCACTCCCG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp1 HG01255.hp2 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0038 a0001c0007t0009g0044 a0001c0007t0009g0038 a0001c0007t0009g0044	2	80	0.0250	-208	c.170 others(19): Show c.170-68225_170-68018del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDK12_chr17_39456486_39539544	39499003	CTTTCTTT others(201): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG03209.hp2 HG02451.hp1 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0015 a0001c0002t0008 a0001c0002t0009 a0001c0002t0015	a0001c0002t0008g0009 a0001c0002t0009g0011 a0001c0002t0015g0010 a0001c0002t0008g0009 a0001c0002t0009g0011 a0001c0002t0015g0010	3	258	0.0116	-208	c.242 others(19): Show c.2420-2243_2420-2036del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COL4A2_chr13_110302284_110518209	110481700	TTCTGTCC others(201): Show TTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACAGTTCTGTCCCTCCATTGCTGGAGACACACTGCTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0017 a0003c0010t0006g0017	1	331	0.0030	-208	c.275 others(17): Show c.2759-808_2759-601del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89587887	GCGTGTCA others(201): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATA CACGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0257	1	304	0.0033	-208	c.928 others(15): Show c.928-723_928-516del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCAKD_chr17_45018344_45056632	45051795	GCGGGGCC others(201): Show GCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTT GGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGACGC GGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGGGCGGGC GGACGCGGGAGAGGTTGGGCGGGCGGGCGGACGCGGGAGAGGTTGGGCGG GCGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0325 a0001c0001t0005g0325	1	333	0.0030	-208	c.-75 others(9): Show c.-757_-550del	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		164		chr17	TogoVar
DDX51_chr12_132131594_132149319	132135696	CGCTCCTC others(201): Show CGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGG TGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0048 a0002c0002t0030g0048	1	325	0.0031	-208	c.33 others(11): Show c.3368_*3575del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		897		chr12	TogoVar
DLGAP2_chr8_732628_1713476	992849	ACCCCCTG others(201): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCC TTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	39	0.0256	-208	c.73+ others(17): Show c.73+84884_73+85091del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	993227	ACCCCCTG others(201): Show ACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGC CCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACC TTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCC CACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCT CTCCCACCT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	40	0.0250	-208	c.73+ others(17): Show c.73+85262_73+85469del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1236268	GTTTCTAG others(201): Show GTTTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACATGGCGCC GTGTCTGGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCCCATGGCGCC GTGTCTAGTTACCTATCACATGGTGCCGTGTCTAGTTCTCTCACATGGCG CCATGTCTAGTTACCTCTCACATGGTGCAGTGTCTAGTTCTCTCTCACAC ATAGCGTCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02895.hp1 others(2): Show HG00639.hp2 HG01891.hp2 HG02895.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0010 a0001c0002 a0001c0003 a0001c0010	a0001c0002t0006 a0001c0003t0001 a0001c0003t0014 others(1): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0014 a0001c0010t0025	a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 others(2): Show a0001c0002t0006g0011 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0010t0025g0012	5	40	0.1250	-208	c.74- others(17): Show c.74-22581_74-22374del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009567	TGTGTATA others(201): Show TGTGTATATACACATATGTGTGTATGTGTGTATGTGTATATACACATATG TGTGTATGTGTGTATGTGTATATACACATATGTGTGTATACGTGTATATG TGTATACGTATATGTGTATATGCACATATGTGTGTATACGTATATGTGTA TATGTGTGTATATGTGTATATACACACATATGTGTATATGTGTGTATATG TGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02015.hp1 HG02071.hp1 others(3): Show HG01934.hp1 HG02015.hp1 HG02071.hp1 NA18971.hp1 NA18982.hp1 NA18994.hp1	a0001 a0004 a0013 others(1): Show a0001 a0004 a0013 a0031	a0001c0002 a0004c0004 a0013c0048 others(1): Show a0001c0002 a0004c0004 a0013c0048 a0031c0037	a0001c0002t0001 a0004c0004t0001 a0013c0048t0001 others(1): Show a0001c0002t0001 a0004c0004t0001 a0013c0048t0001 a0031c0037t0004	a0001c0002t0001g0085 a0001c0002t0001g0100 a0001c0002t0001g0101 others(3): Show a0001c0002t0001g0085 a0001c0002t0001g0100 a0001c0002t0001g0101 a0004c0004t0001g0084 a0013c0048t0001g0066 a0031c0037t0004g0067	6	87	0.0690	-208	c.93+ others(17): Show c.93+10364_93+10571del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAI2_chr17_74269234_74319884	74301850	AGAAGGAA others(201): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG02055.hp1 others(18): Show HG01074.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03654.hp1 HG03688.hp1 HG06807.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0013	a0001c0002 a0002c0003 a0002c0006 others(6): Show a0001c0002 a0002c0003 a0002c0006 a0002c0010 a0002c0011 a0002c0031 a0004c0018 a0006c0013 a0013c0033	a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 others(8): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0006t0003 a0002c0010t0003 a0002c0011t0003 a0002c0031t0002 a0004c0018t0002 a0006c0013t0002 a0013c0033t0003	a0001c0002t0001g0012 a0001c0002t0001g0142 a0001c0002t0002g0299 others(17): Show a0001c0002t0001g0012 a0001c0002t0001g0142 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0304 a0001c0002t0002g0341 a0002c0003t0002g0322 a0002c0003t0002g0351 a0002c0003t0003g0226 a0002c0006t0003g0239 a0002c0010t0003g0201 a0002c0010t0003g0202 a0002c0011t0003g0017 a0002c0031t0002g0352 a0004c0018t0002g0194 a0006c0013t0002g0289 a0006c0013t0002g0306 a0006c0013t0002g0312 a0013c0033t0003g0212	21	390	0.0538	-208	c.987 others(15): Show c.987+742_987+949del	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPH7_chr9_137549444_137583925	137565424	ACTCTGTC others(201): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG00597.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0190 a0001c0001t0001g0050 a0001c0001t0001g0190	2	305	0.0066	-208	c.641 others(15): Show c.641-478_641-271del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566219	CTCTGTCT others(201): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT GTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19009.hp1 NA18747.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0225 a0001c0001t0001g0171 a0001c0001t0001g0225	2	328	0.0061	-208	c.641 others(17): Show c.641-1273_641-1066del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566664	TCTGTCTG others(201): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02135.hp1 NA18947.hp1 others(9): Show HG00621.hp2 HG02135.hp1 NA18947.hp1 NA18957.hp1 NA18962.hp2 NA18971.hp1 NA18974.hp2 NA18982.hp1 NA19000.hp1 NA19005.hp1 NA19083.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0232	12	337	0.0356	-208	c.641 others(17): Show c.641-1718_641-1511del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP6_chr7_154047398_154899285	154235391	CAACCCCT others(201): Show CAACCCCTTTCCACATAGGTTAGTATCACCAGTGTGCTTGGATGAATTGC AGTTTGCCCAGTTTGCTGTTCCAAAAGCTAGAGAATTCCTTTTTTTCTTT TTTCCTCTTACTATACAAACCAACTCTAAGTGATAATTAAAAGCGTGAGC TTTGAATTTAATCAGCACTTTGTTCCTTTCTATTGTCAAATAACTACACA GTGTTTTAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01071.hp1 others(5): Show HG00558.hp2 HG00673.hp1 HG01071.hp1 HG01433.hp2 HG02083.hp1 HG02280.hp2 HG02559.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0001c0016 others(5): Show a0001c0003 a0001c0007 a0001c0016 a0001c0021 a0001c0024 a0002c0019 a0002c0022 a0002c0028	a0001c0003t0008 a0001c0007t0005 a0001c0016t0013 others(5): Show a0001c0003t0008 a0001c0007t0005 a0001c0016t0013 a0001c0021t0011 a0001c0024t0028 a0002c0019t0001 a0002c0022t0023 a0002c0028t0002	a0001c0003t0008g0025 a0001c0007t0005g0038 a0001c0016t0013g0012 others(5): Show a0001c0003t0008g0025 a0001c0007t0005g0038 a0001c0016t0013g0012 a0001c0021t0011g0022 a0001c0024t0028g0002 a0002c0019t0001g0020 a0002c0022t0023g0027 a0002c0028t0002g0016	8	38	0.2105	-208	c.243 others(21): Show c.243+182330_243+182537del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
ERFL_chr19_41902704_41933449	41914649	TTCCACCA others(201): Show TTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCT CCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCT CCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGTCTCTGT CTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCTCTGTCT CTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	315	0.0032	-208	c.-13 others(17): Show c.-13-1925_-13-1718del	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
FMN1_chr15_32760544_33199714	32777776	GTATAATA others(201): Show GTATAATACATTTATATATTATGTATAATATAATACATTTATTTATATAT TATGTATAATATATAATACATTAATTATATATTATGTATAATATATAATA CATTATATATTATGTATAATATATAATACATTATATATTATGTATAATAT ATAATACATTATATATTATGTATAATATATAATACATTTATTATATATTA TGTATAATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03688.hp2 NA19043.hp1 HG01257.hp2 HG03688.hp2 NA19043.hp1	a0002 a0017 a0031 a0002 a0017 a0031	a0002c0048 a0017c0092 a0031c0082 a0002c0048 a0017c0092 a0031c0082	a0002c0048t0041 a0017c0092t0002 a0031c0082t0004 a0002c0048t0041 a0017c0092t0002 a0031c0082t0004	a0002c0048t0041g0154 a0017c0092t0002g0075 a0031c0082t0004g0044 a0002c0048t0041g0154 a0017c0092t0002g0075 a0031c0082t0004g0044	3	175	0.0171	-208	c.413 others(18): Show c.4131-1065_4131-858del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805865	CCCCCCTC others(201): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	308	0.0032	-208	c.17 others(11): Show c.1700_*1907del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1579		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132304381	ACCCTCAC others(201): Show ACCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCCGGGCACAG CCTCGCCCGGGCACACCCTCGCCCGGGCACAGCCTCGCCCGGGCACACGC TCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCCGGACACACCCTC ACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGC CCGGACACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp1 HG02698.hp1 others(9): Show HG01175.hp1 HG02280.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02976.hp2 HG03209.hp1 HG03486.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0001c0026 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0010t0001 a0001c0026t0014 a0001c0039t0006 a0001c0040t0007	a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 others(9): Show a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0026t0014g0052 a0001c0039t0006g0001 a0001c0040t0007g0002	12	182	0.0659	-208	c.239 others(19): Show c.239-18159_239-17952del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132304851	ACCCGGGC others(201): Show ACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGGGCACACCCTCGC CCGGACACGCCCTCACCGGGGCACACCCTCACCCAGACACGCCCTCACCC AGACACGCCCTCACCCGGGCACACCCTCACCCGGGCACACCCTCACCCGG GCACATCCTCACCGGGGCACACCCTCACCCAGACACACCCTCACCCGGGC ACAGAATCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	181	0.0055	-208	c.239 others(19): Show c.239-18629_239-18422del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GRP_chr18_59215158_59235771	59234211	GTATATAT others(201): Show GTATATATAATATAACATATTATACATACCATGGTATATATAATATAACA TATTATACATACCATGGTATATATATAATATAACATATTATACATACCAT GGTATATATATAATATAACATATTATACATACCATGGTATATATATAATA TAACATATTATACATACCATGGTATATATATAATATAACATATTATACAT ACCATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	188	0.0053	-208	c.37 others(11): Show c.3744_*3951del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3441		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113346175	CGGGAGGA others(201): Show CGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTG AGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGGACC TCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCG GGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAG AGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG02976.hp2 others(2): Show HG02717.hp2 HG02809.hp2 HG02976.hp2 HG03540.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0216 a0001c0001t0001g0228 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0216 a0001c0001t0001g0228 a0001c0001t0002g0028 a0001c0001t0004g0042	5	262	0.0191	-208	c.466 others(17): Show c.466-1424_466-1217del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346342	GAGAGCGG others(201): Show GAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCC AGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGA CAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCT CTGTGGCAA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	274	0.0036	-208	c.466 others(17): Show c.466-1591_466-1384del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346737	CCCGGGAG others(201): Show CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC AAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	273	0.0037	-208	c.466 others(17): Show c.466-1986_466-1779del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346757	TGAGAGCG others(201): Show TGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGA CCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGA CCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACC TCTGTGGCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	168	0.0060	-208	c.466 others(17): Show c.466-2006_466-1799del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346769	TGGGAGGA others(201): Show TGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	148	0.0068	-208	c.466 others(17): Show c.466-2018_466-1811del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347210	AGACCCAG others(201): Show AGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT GGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCAAGAACAG ATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTCTGTGG CTGACAGTG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	276	0.0036	-208	c.466 others(17): Show c.466-2459_466-2252del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HCN2_chr19_584881_622159	605320	GCCTTTCA others(201): Show GCCTTTCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCG GGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACT CGGGCCCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGA CTCGGGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAG GACTCGGGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02056.hp2 others(13): Show HG01256.hp1 HG01258.hp2 HG02056.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0001c0015 others(8): Show a0001c0001 a0001c0006 a0001c0015 a0001c0030 a0001c0097 a0002c0004 a0002c0012 a0002c0036 a0002c0051 a0003c0121 a0005c0043	a0001c0001t0002 a0001c0001t0004 a0001c0006t0002 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0006t0002 a0001c0015t0001 a0001c0015t0004 a0001c0030t0004 a0001c0097t0001 a0002c0004t0004 a0002c0004t0006 a0002c0012t0001 a0002c0036t0001 a0002c0051t0012 a0003c0121t0004 a0005c0043t0006	a0001c0001t0002g0016 a0001c0001t0004g0068 a0001c0006t0002g0018 others(12): Show a0001c0001t0002g0016 a0001c0001t0004g0068 a0001c0006t0002g0018 a0001c0015t0001g0011 a0001c0015t0004g0021 a0001c0030t0004g0378 a0001c0097t0001g0119 a0002c0004t0004g0364 a0002c0004t0006g0357 a0002c0012t0001g0366 a0002c0036t0001g0008 a0002c0051t0012g0360 a0003c0121t0004g0236 a0005c0043t0006g0108 a0005c0043t0006g0109	16	406	0.0394	-208	c.121 others(17): Show c.1218+155_1218+362del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605377	ACAGAGGT others(201): Show ACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGC CCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGG GCCCTTTCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTC GGGCCCTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp1 HG01243.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0004 a0001c0026t0004 a0001c0001t0004 a0001c0026t0004	a0001c0001t0004g0229 a0001c0026t0004g0054 a0001c0001t0004g0229 a0001c0026t0004g0054	2	358	0.0056	-208	c.121 others(17): Show c.1218+207_1218+414del	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IBA57_chr1_228160804_228187257	228174111	GGCTGTGG others(201): Show GGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCG CTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCT GTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGT GGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGG GCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0142 a0001c0001t0055g0142	1	388	0.0026	-208	c.342 others(15): Show c.342-388_342-181del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
IBA57_chr1_228160804_228187257	228174304	GCTGTGGG others(201): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGG CGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00621.hp1 others(39): Show HG00280.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01257.hp2 HG01433.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG03017.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18747.hp2 NA18964.hp2 NA18967.hp1 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp2 NA19012.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(19): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0033 a0001c0001t0053 a0001c0001t0063 a0001c0001t0113 a0001c0001t0114 a0001c0001t0147 a0001c0001t0150 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0002t0050 a0002c0002t0065 a0002c0002t0067 a0002c0002t0101 a0002c0002t0121	a0001c0001t0006g0005 a0001c0001t0006g0020 a0001c0001t0006g0034 others(32): Show a0001c0001t0006g0005 a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0060 a0001c0001t0006g0070 a0001c0001t0009g0002 a0001c0001t0009g0005 a0001c0001t0009g0053 a0001c0001t0010g0002 a0001c0001t0010g0005 a0001c0001t0025g0134 a0001c0001t0033g0016 a0001c0001t0053g0016 a0001c0001t0063g0057 a0001c0001t0113g0034 a0001c0001t0114g0005 a0001c0001t0147g0005 a0001c0001t0150g0016 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0023 a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0055 a0002c0002t0014g0103 a0002c0002t0029g0003 a0002c0002t0030g0061 a0002c0002t0031g0136 a0002c0002t0050g0031 a0002c0002t0065g0003 a0002c0002t0067g0003 a0002c0002t0101g0001 a0002c0002t0121g0001	42	414	0.1014	-208	c.342 others(15): Show c.342-384_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5E_chr9_136423619_136444845	136431243	TTCCTCAT others(201): Show TTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCAT CTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCA CGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCC CCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGC CCTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01993.hp2 HG02257.hp2 others(4): Show HG01256.hp1 HG01993.hp2 HG02257.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0011 a0001c0004 a0001c0007 a0001c0011	a0001c0004t0004 a0001c0004t0010 a0001c0007t0004 others(1): Show a0001c0004t0004 a0001c0004t0010 a0001c0007t0004 a0001c0011t0004	a0001c0004t0004g0034 a0001c0004t0010g0128 a0001c0004t0010g0129 others(2): Show a0001c0004t0004g0034 a0001c0004t0010g0128 a0001c0004t0010g0129 a0001c0007t0004g0073 a0001c0011t0004g0020	7	371	0.0189	-208	c.155 others(17): Show c.1550-334_1550-127del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar

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