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
MYZAP_chr15_57586904_57690364	57687772	TATATAAT others(133): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATATAATATGTGT GTACAATATACACATATATAATATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02056.hp2 HG02523.hp1 others(1): Show HG01952.hp1 HG02056.hp2 HG02523.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0264 a0001c0001t0004g0276 a0002c0002t0002g0081 others(1): Show a0001c0001t0001g0264 a0001c0001t0004g0276 a0002c0002t0002g0081 a0002c0002t0005g0062	4	352	0.0114	-140	c.32 others(11): Show c.3275_*3414del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2409		chr15	TogoVar
NCAM2_chr21_20993409_21548329	21011869	AGGCATAC others(133): Show AGGCATACAAAAAAATGCTCAACATTGGTTTTCAAGGAAATGCAAATTAA AAACCATAAGGAGATATCACCTCACACCTGGTAGATTGTCTGTTATAAAA AAGACAAAATCTAATGTTGGTGAGGAGAACAGAGAAGCTTC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	132	0.0076	-140	c.55+ others(17): Show c.55+13253_55+13392del	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241806122	CTCCCCCC others(133): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	-140	c.-31 others(11): Show c.-3155_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3070		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(133): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02056.hp1 HG02735.hp1 others(1): Show HG01346.hp2 HG02056.hp1 HG02735.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0017 a0001c0001 a0001c0004 a0005c0017	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0005c0017t0003	a0001c0001t0001g0033 a0001c0001t0003g0188 a0001c0004t0001g0011 others(1): Show a0001c0001t0001g0033 a0001c0001t0003g0188 a0001c0004t0001g0011 a0005c0017t0003g0091	4	319	0.0125	-140	c.-31 others(11): Show c.-3116_-2977del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3031		chr2	TogoVar
NLRP4_chr19_55831540_55886855	55849994	ACTGCGGT others(133): Show ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGTAGCTGCGGTGGAATTTCCGAGACTGCGGTGTAATTTCCGTG GCTGCGGTGTAATTACCGTAGCTGCGGTGTAATTTCCGTGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02083.hp1 others(4): Show HG00438.hp1 HG00558.hp1 HG02083.hp1 HG02683.hp2 NA18999.hp2 NA20300.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0011 a0003c0007 a0004c0013 others(1): Show a0001c0011 a0003c0007 a0004c0013 a0008c0027	a0001c0011t0001 a0001c0011t0004 a0001c0011t0012 others(3): Show a0001c0011t0001 a0001c0011t0004 a0001c0011t0012 a0003c0007t0001 a0004c0013t0001 a0008c0027t0002	a0001c0011t0001g0083 a0001c0011t0004g0031 a0001c0011t0012g0300 others(4): Show a0001c0011t0001g0083 a0001c0011t0004g0031 a0001c0011t0012g0300 a0003c0007t0001g0177 a0004c0013t0001g0046 a0008c0027t0002g0251 a0008c0027t0002g0278	7	424	0.0165	-140	c.-65 others(17): Show c.-65-2012_-65-1873del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850692	TGGCTGCG others(133): Show TGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTTCCGAGGCTGCGGT GTACTTCCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTCCCG AGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG02965.hp2 others(3): Show HG02145.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0008 a0001c0001t0011 a0001c0005t0005 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0005t0005 a0002c0002t0009	a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0363 others(3): Show a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0363 a0001c0001t0011g0351 a0001c0005t0005g0350 a0002c0002t0009g0354	6	424	0.0142	-140	c.-65 others(17): Show c.-65-1311_-65-1172del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850932	TGGCTGCG others(133): Show TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0368 a0002c0002t0005g0368	1	424	0.0024	-140	c.-65 others(16): Show c.-65-1064_-65-925del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851092	TGGCTGCG others(133): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	424	0.0024	-140	c.-65 others(15): Show c.-65-909_-65-770del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851192	AGGCTGCG others(133): Show AGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02922.hp1 HG00733.hp2 HG02922.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0013 a0002c0002 a0004c0013	a0002c0002t0009 a0004c0013t0001 a0002c0002t0009 a0004c0013t0001	a0002c0002t0009g0237 a0004c0013t0001g0078 a0002c0002t0009g0237 a0004c0013t0001g0078	2	424	0.0047	-140	c.-65 others(15): Show c.-65-769_-65-630del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
OCA2_chr15_27749875_28104315	27862148	GACAGAAA others(133): Show GACAGAAAGCGCGGTCGTCAGCCTCGAGTCCTCATGGACAGAAAGCATGG TCGTCAGCCTCGAGTCCTCACGGACAGAAAGCATGGTCGTCAGCCTCGAG TCCTCACGGACAGAAAGCGTGGTCGTCAGCCTCAAGTCCTC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp1 HG02818.hp1 HG03195.hp1	a0006 a0016 a0006 a0016	a0006c0025 a0016c0041 a0006c0025 a0016c0041	a0006c0025t0001 a0016c0041t0001 a0006c0025t0001 a0016c0041t0001	a0006c0025t0001g0067 a0016c0041t0001g0079 a0006c0025t0001g0067 a0016c0041t0001g0079	2	110	0.0182	-140	c.224 others(19): Show c.2244+8866_2244+9005del	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	21/23			chr15	TogoVar
OGFOD3_chr17_82384210_82423586	82386007	CGGGGAGG others(133): Show CGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCCCCATCCTCCCTCCGT CTTCCCCTGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCT CCTCCCCCATCCTGCCTCCGCCTTCCCCGGCCTCCAGTGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02886.hp2 others(2): Show HG01891.hp1 HG02615.hp1 HG02886.hp2 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0005 a0001c0004t0040 a0001c0001t0011 a0001c0004t0005 a0001c0004t0040	a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0004t0005g0072 others(2): Show a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0004t0005g0072 a0001c0004t0005g0266 a0001c0004t0040g0099	5	348	0.0144	-140	c.62 others(11): Show c.6251_*6390del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3202		chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82386084	GGGCTGTC others(133): Show GGGCTGTCTCTGTCCCAGGCTCTCCTCCCCCATCCTGCCTCCGCCTTCCC CGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCCAGGCTCTCCTCTCT GTCCTCCCTCCGCCTTCCCCTGGCCTCTAGTGATGGGGAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	348	0.0029	-140	c.61 others(11): Show c.6174_*6313del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		3125		chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82386210	CTAGTGAT others(133): Show CTAGTGATGGGGAGTGGCTGTCTCTGTCCCAGGCTCTCCTCTCTGTCCTC CCTCCGTCTTCCCCTGGCCTCCAGTGATGGGGAGGGGCTGTCTCTGTCCC AGGCTCTCCTCCCCGTCCTCCCTCCGCCTTCCCCTGGCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp1 others(38): Show HG00099.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0007 a0006c0020	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0002 a0001c0006t0003 a0002c0007t0003 a0006c0020t0003	a0001c0001t0003g0177 a0001c0001t0003g0190 a0001c0001t0003g0191 others(38): Show a0001c0001t0003g0177 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0237 a0001c0001t0003g0261 a0001c0001t0003g0281 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0309 a0001c0001t0006g0030 a0001c0001t0006g0062 a0001c0001t0006g0258 a0001c0001t0007g0026 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0008g0053 a0001c0001t0008g0315 a0001c0001t0011g0017 a0001c0001t0011g0031 a0001c0001t0015g0303 a0001c0001t0015g0312 a0001c0001t0036g0222 a0001c0001t0039g0197 a0001c0002t0001g0189 a0001c0002t0003g0123 a0001c0002t0006g0018 a0001c0002t0006g0021 a0001c0002t0006g0095 a0001c0003t0002g0257 a0001c0006t0003g0175 a0002c0007t0003g0140 a0002c0007t0003g0141 a0006c0020t0003g0192	41	348	0.1178	-140	c.60 others(11): Show c.6048_*6187del	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding		2999		chr17	TogoVar
PARVB_chr22_44019302_44177939	44113867	GGCCCTGC others(133): Show GGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCCTGCACCAA CACAGATACATTGTTACTAACTAAGGCCCTGCACCAGCACAGATATATTG TTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01975.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0002g0145 a0001c0001t0002g0222 a0001c0001t0004g0271 others(2): Show a0001c0001t0002g0145 a0001c0001t0002g0222 a0001c0001t0004g0271 a0001c0002t0002g0148 a0001c0002t0002g0149	5	332	0.0151	-140	c.274 others(17): Show c.274-5170_274-5031del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12			chr22	TogoVar
PDCD6_chr5_266646_319974	309587	TGGCCGCC others(133): Show TGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACAC CAGTGAGGGCCGCCGTCCCCGTGCACACCAGTGAGGGCCGCCGTCCCCGT GCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGAT	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	360	0.0028	-140	c.368 others(17): Show c.368-1658_368-1519del	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDXK_chr21_43714129_43767299	43741279	CGGGGGGG others(133): Show CGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0100 a0001c0002t0070g0100	1	358	0.0028	-140	c.143 others(15): Show c.143-381_143-242del	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGBD5_chr1_230309490_230431332	230396144	ATCCCTTT others(133): Show ATCCCTTTTACTCCCACACTCCTCCCTTTTACCCACATTCCTTTTTACCC CCCCACTCTTCCCTTTTACTCACATTCCTCCTTTTTACCCCCACACTCCT CCCTTTTACCCCCACACTCCTCCTTTTTACCCCCACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0133 a0001c0001t0113g0133	1	288	0.0035	-140	c.331 others(19): Show c.331+29314_331+29453del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	165326	CCTCTGAC others(133): Show CCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGG GCTCACACTAATGCTCTGATGGGGCGGGGCTCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0071 a0006c0071	a0006c0071t0018 a0006c0071t0018	a0006c0071t0018g0202 a0006c0071t0018g0202	1	210	0.0048	-140	c.347 others(19): Show c.3476+1829_3476+1968del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPA1_chr10_70197835_70238429	70220601	TTATATAT others(133): Show TTATATATATATTATATATAATTTATATATATATAATATATATAATTTAT ATATATATTATATATAATTTATATATATATAATATATATAATTTATATAT ATATAATATATATAATTTATATATATAATATATATAATTTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02135.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02135.hp1 NA18949.hp1 NA18954.hp2 NA18995.hp1 NA18998.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(5): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114	8	408	0.0196	-140	c.124 others(17): Show c.124-1924_124-1785del	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10			chr10	TogoVar
PPP1R15B_chr1_204398381_204416817	204402806	GCTCACGC others(133): Show GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGGTCAC GAGGTCAGGAGATCGAGAACAACCTGGCCAACATGATGAAACCCCATCTC TACTAAAAATACAAAATTTAGCCGGGCATGGTGGCAGGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	394	0.0025	-140	c.31 others(11): Show c.3146_*3285del	PPP1R15B	ENSG00000158615.10	transcript	ENST00000367188.5	protein_coding		574		chr1	TogoVar
PRDM7_chr16_90051566_90082331	90052431	TTCTCTGT others(133): Show TTCTCTGTAGACCGGCCGGAACCACTGCCTGGTCATTCTCTGTAGACCGG CCGGAACCACTGCCTGGTGAATCTCTGTAGACCGGCCGGAACCACTGCCT GGTGAATCTCTGTAGACCGGCCGGAACCACTGCCTGGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0119 a0003c0003t0002g0119	1	392	0.0026	-140	c.57 others(11): Show c.5718_*5857del	PRDM7	ENSG00000126856.16	transcript	ENST00000449207.8	protein_coding		4134		chr16	TogoVar
PRIMA1_chr14_93713298_93793485	93722007	CTAGTGGT others(133): Show CTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTG GTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG TGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGATGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00673.hp2 others(28): Show HG00558.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01516.hp2 HG02015.hp2 HG02071.hp1 HG02135.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18963.hp2 NA18975.hp2 NA18981.hp1 NA19001.hp2 NA19030.hp2 NA19074.hp1 NA19090.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0003t0007 a0001c0003t0011 a0001c0003t0035 a0001c0004t0001 a0001c0006t0013 a0001c0006t0017	a0001c0001t0001g0167 a0001c0001t0002g0029 a0001c0001t0011g0164 others(28): Show a0001c0001t0001g0167 a0001c0001t0002g0029 a0001c0001t0011g0164 a0001c0001t0017g0157 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0159 a0001c0002t0001g0197 a0001c0002t0001g0269 a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0347 a0001c0002t0001g0382 a0001c0002t0002g0096 a0001c0002t0020g0267 a0001c0003t0007g0181 a0001c0003t0007g0182 a0001c0003t0011g0061 a0001c0003t0011g0243 a0001c0003t0035g0025 a0001c0004t0001g0036 a0001c0004t0001g0042 a0001c0004t0001g0290 a0001c0004t0001g0309 a0001c0006t0013g0055 a0001c0006t0013g0305 a0001c0006t0017g0304	31	397	0.0781	-140	c.360 others(15): Show c.360-601_360-462del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722071	ATGGTGGT others(133): Show ATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG02004.hp2 others(16): Show HG00642.hp2 HG01255.hp1 HG02004.hp2 HG02055.hp2 HG02257.hp1 HG02622.hp1 HG02647.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0003t0006 a0001c0006t0002	a0001c0001t0002g0008 a0001c0001t0002g0365 a0001c0002t0001g0107 others(14): Show a0001c0001t0002g0008 a0001c0001t0002g0365 a0001c0002t0001g0107 a0001c0003t0002g0014 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0074 a0001c0003t0002g0179 a0001c0003t0002g0183 a0001c0003t0002g0202 a0001c0003t0002g0206 a0001c0003t0002g0273 a0001c0003t0002g0330 a0001c0003t0006g0338 a0001c0006t0002g0005 a0001c0006t0002g0054 a0001c0006t0002g0213	19	397	0.0479	-140	c.360 others(15): Show c.360-665_360-526del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRIMA1_chr14_93713298_93793485	93722246	GTGGTGGT others(133): Show GTGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTG ATGCTGGTGGTAATGGGGTGGTGGTGGTAGTGGTGATGCTGGTGGTAATG GGGTGATGGTGGTAGTGGTGATGCTGGTGGTAATGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG02896.hp1 others(9): Show HG02055.hp1 HG02895.hp1 HG02896.hp1 HG03579.hp1 NA18940.hp1 NA18948.hp2 NA18955.hp2 NA18966.hp1 NA18986.hp2 NA19005.hp2 NA19062.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0009 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0003t0002 a0001c0003t0019 a0001c0006t0002 a0001c0006t0009	a0001c0001t0002g0127 a0001c0001t0009g0112 a0001c0003t0002g0075 others(9): Show a0001c0001t0002g0127 a0001c0001t0009g0112 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0087 a0001c0003t0019g0201 a0001c0006t0002g0306 a0001c0006t0002g0353 a0001c0006t0009g0212 a0001c0006t0009g0220	12	397	0.0302	-140	c.360 others(15): Show c.360-840_360-701del	PRIMA1	ENSG00000175785.13	transcript	ENST00000393140.6	protein_coding	4/4			chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2122146	TTAGGGTC others(133): Show TTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGG GTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAG GGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02615.hp2 others(6): Show HG01109.hp2 HG02258.hp1 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0002g0026 a0001c0001t0005g0046 a0001c0001t0017g0019	9	286	0.0315	-140	c.335 others(19): Show c.335-13114_335-12975del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123419	AGGGTTGT others(133): Show AGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAG GGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	286	0.0035	-140	c.335 others(19): Show c.335-11841_335-11702del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB31_chr18_9703301_9867551	9815246	TGTGTAGA others(133): Show TGTGTAGATACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATACTGTC CTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTG TCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 NA18522.hp2 HG02723.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0153 a0001c0001t0002g0216 a0001c0001t0002g0320 a0001c0001t0001g0153 a0001c0001t0002g0216 a0001c0001t0002g0320	3	322	0.0093	-140	c.380 others(14): Show c.380+33_380+172del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9815290	ACTGTCCT others(133): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG03041.hp2 others(1): Show HG02622.hp2 HG02630.hp2 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0048 a0001c0001t0001 a0001c0001t0048	a0001c0001t0001g0122 a0001c0001t0001g0215 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0215 a0001c0001t0001g0275 a0001c0001t0048g0149	4	322	0.0124	-140	c.380 others(15): Show c.380+303_380+442del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB31_chr18_9703301_9867551	9815705	TAGATGCT others(133): Show TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 NA18522.hp1 HG02109.hp1 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0001t0001g0253 a0001c0001t0001g0152 a0001c0001t0001g0203 a0001c0001t0001g0253	3	322	0.0093	-140	c.380 others(15): Show c.380+623_380+762del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB7B_chr1_205971740_206008395	205981645	TTTCAGAA others(133): Show TTTCAGAATATTAACTGAACACCTACTCTGGTTTCTTTCACAATGTTAAC TGAACACCTACTGTGATTTCCTTCACAATGTTAACTGAACACCTACTCTG GTTTCTTTCAGAATGTTAGCTGAACACCTACTGTGGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02451.hp2 others(4): Show HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02630.hp1 HG03130.hp2 HG03195.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0094 others(4): Show a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0252 a0001c0001t0002g0284 a0001c0001t0015g0289	7	330	0.0212	-140	c.523 others(17): Show c.523-2857_523-2718del	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5			chr1	TogoVar
RAB7B_chr1_205971740_206008395	205981700	ACCTACTG others(133): Show ACCTACTGTGATTTCCTTCACAATGTTAACTGAACACCTACTCTGGTTTC TTTCAGAATGTTAGCTGAACACCTACTGTGGTCTCCTTCAGAATGTTAAC TGAACACCTACTCTGGTTTCTTTCACAATGTTAACTGAACT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(185): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(168): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0004g0167 a0001c0001t0004g0179 a0001c0001t0004g0200 a0001c0001t0004g0202 a0001c0001t0004g0237 a0001c0001t0004g0263 a0001c0001t0006g0068 a0001c0001t0006g0081 a0001c0001t0006g0083 a0001c0001t0006g0093 a0001c0001t0006g0103 a0001c0001t0006g0248 a0001c0001t0008g0074 a0001c0001t0008g0100 a0001c0001t0008g0276 a0001c0001t0010g0005 a0001c0001t0012g0027 a0001c0001t0017g0219 a0001c0001t0018g0206 a0001c0001t0024g0301	188	330	0.5697	-140	c.523 others(17): Show c.523-2912_523-2773del	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	5/5			chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759514	CATACATA others(133): Show CATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACA TACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACATATGTATGTATGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02055.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	452	0.0044	-140	c.-24 others(11): Show c.-2469_-2330del	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2105		chr3	TogoVar
RGPD4_chr2_107821892_107897544	107828079	AGGCAGCG others(133): Show AGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCATCATGGTTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGC	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18954.hp2 NA18960.hp2 others(5): Show NA18939.hp1 NA18954.hp2 NA18960.hp2 NA18978.hp1 NA19060.hp2 NA19064.hp1 NA19077.hp1 NA19087.hp2	a0002 a0002	a0002c0003 a0002c0014 a0002c0029 a0002c0003 a0002c0014 a0002c0029	a0002c0003t0002 a0002c0014t0002 a0002c0029t0002 a0002c0003t0002 a0002c0014t0002 a0002c0029t0002	a0002c0003t0002g0093 a0002c0003t0002g0136 a0002c0003t0002g0137 others(5): Show a0002c0003t0002g0093 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0138 a0002c0014t0002g0133 a0002c0014t0002g0134 a0002c0014t0002g0135 a0002c0029t0002g0188	8	374	0.0214	-140	c.72+ others(14): Show c.72+998_72+1137del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828579	AGGCAGCG others(133): Show AGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCATCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01257.hp1 HG02257.hp2 others(12): Show HG00323.hp1 HG01257.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03471.hp1 NA18522.hp2 NA18993.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0019	a0002c0003 a0003c0002 a0004c0004 others(2): Show a0002c0003 a0003c0002 a0004c0004 a0006c0008 a0019c0027	a0002c0003t0042 a0003c0002t0003 a0004c0004t0002 others(3): Show a0002c0003t0042 a0003c0002t0003 a0004c0004t0002 a0006c0008t0005 a0006c0008t0012 a0019c0027t0020	a0002c0003t0042g0139 a0003c0002t0003g0059 a0003c0002t0003g0077 others(12): Show a0002c0003t0042g0139 a0003c0002t0003g0059 a0003c0002t0003g0077 a0004c0004t0002g0087 a0004c0004t0002g0088 a0004c0004t0002g0102 a0006c0008t0005g0204 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0012g0202 a0006c0008t0012g0203 a0006c0008t0012g0209 a0019c0027t0020g0011 a0019c0027t0020g0012	15	374	0.0401	-140	c.72+ others(15): Show c.72+1498_72+1637del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS20_chr8_53846795_53964303	53947679	CATACATT others(133): Show CATACATTTATATATGCTATATATAGGATATAGTACATACATTTATATAT GCTATATATAGGATATAGTACATACATTTATATATGCTATATATAGGATA TAGTATATACATTTATATATGCTATATATAGGATATAGTAT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0102 a0001c0001t0003g0103	2	258	0.0078	-140	c.743 others(16): Show c.743+966_743+1105del	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RTCB_chr22_32382582_32417247	32402561	TGCCTCAG others(133): Show TGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCGTGCGCCACCACACCC AGCTAATTTCTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCA GGATGGTCTTGAACTCCTGATCTCATGATCCACCCACCTCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp1 others(93): Show HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01069.hp2 HG01167.hp1 HG01169.hp1 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02922.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 others(38): Show a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0125 a0001c0002t0001g0140	96	438	0.2192	-140	c.341 others(15): Show c.341-798_341-659del	RTCB	ENSG00000100220.12	transcript	ENST00000216038.6	protein_coding	4/11			chr22	TogoVar
SAMD11_chr1_918923_949574	933961	TGCTCCGT others(133): Show TGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	434	0.0023	-140	c.843 others(17): Show c.843-1695_843-1556del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934077	GCGTTACA others(133): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	434	0.0023	-140	c.843 others(17): Show c.843-1596_843-1457del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934176	AGGGGAGG others(133): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0248	1	434	0.0023	-140	c.843 others(17): Show c.843-1568_843-1429del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCML4_chr6_107697154_107829313	107783229	TGCTGGTC others(133): Show TGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGAT GGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTG CCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18957.hp1 NA18994.hp1 others(1): Show HG02083.hp1 NA18957.hp1 NA18994.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 others(1): Show a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0005t0011g0171	4	250	0.0160	-140	c.-59 others(19): Show c.-59-10983_-59-10844del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783309	GAGGTGCT others(133): Show GAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCC TGATGGGAGGAGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAG TTTGCCTGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02647.hp2 others(3): Show HG01884.hp1 HG02280.hp1 HG02647.hp2 HG02896.hp1 HG03139.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0008 a0001c0008t0008	a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0004g0110 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0004g0110 a0001c0001t0004g0146 a0001c0002t0008g0145 a0001c0008t0008g0111	6	250	0.0240	-140	c.-59 others(19): Show c.-59-11063_-59-10924del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SHC2_chr19_411589_466033	426538	AGGCAGAG others(133): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGG AGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACC GAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02451.hp2 others(5): Show HG01109.hp2 HG01884.hp2 HG02451.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0007 a0001c0023 a0002c0024 others(2): Show a0001c0007 a0001c0023 a0002c0024 a0006c0011 a0007c0019	a0001c0007t0002 a0001c0007t0006 a0001c0023t0007 others(3): Show a0001c0007t0002 a0001c0007t0006 a0001c0023t0007 a0002c0024t0003 a0006c0011t0005 a0007c0019t0001	a0001c0007t0002g0080 a0001c0007t0006g0037 a0001c0007t0006g0055 others(5): Show a0001c0007t0002g0080 a0001c0007t0006g0037 a0001c0007t0006g0055 a0001c0023t0007g0186 a0002c0024t0003g0188 a0006c0011t0005g0059 a0006c0011t0005g0063 a0007c0019t0001g0127	8	212	0.0377	-140	c.117 others(19): Show c.1175-1447_1175-1308del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12970329	ATATATAT others(133): Show ATATATATATATATACATATATGTGTATATATATATATATACATATATAT ATACATATATGTATATATATATATACATATATATATATACACATATATGT ATATATATATACACACATATATATATACATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20129.hp2 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0058 a0001c0001t0005g0049 a0001c0001t0001g0058 a0001c0001t0005g0049	2	214	0.0094	-140	c.691 others(19): Show c.691+53529_691+53668del	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(133): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0109 a0003c0001t0001g0109	1	324	0.0031	-140	c.-15 others(17): Show c.-15-8302_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC47A1_chr17_19528854_19584034	19562046	TGCTAGTG others(133): Show TGCTAGTGTGTACATTCGGACTATATAGAAACTTCGTGGGGGTACTTCTT ATTTGGACACCTTTGTCAGCAGTTACAAAATGCAAATGGACTTTGCCTTC CTGGATTCAGAAAGCTGGTGGAGCGGACAGAACTAATTTCA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	338	0.0030	-140	c.110 others(19): Show c.1106+1554_1106+1693del	SLC47A1	ENSG00000142494.13	transcript	ENST00000270570.8	protein_coding	12/16			chr17	TogoVar
SLC7A1_chr13_29504414_29600688	29559171	GGGGGAGA others(133): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02523.hp2 NA19001.hp1 HG01257.hp2 HG02523.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0004 a0001c0002t0019 a0001c0020t0005 a0001c0002t0004 a0001c0002t0019 a0001c0020t0005	a0001c0002t0004g0141 a0001c0002t0019g0019 a0001c0020t0005g0312 a0001c0002t0004g0141 a0001c0002t0019g0019 a0001c0020t0005g0312	3	330	0.0091	-140	c.-11 others(19): Show c.-114-5451_-114-5312del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	ACGGGGAG others(133): Show ACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01256.hp1 HG03669.hp2 others(6): Show HG00140.hp2 HG01256.hp1 HG03669.hp2 HG04199.hp2 NA18940.hp1 NA18948.hp2 NA18969.hp1 NA19064.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0043 a0001c0003t0005	a0001c0002t0001g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 others(6): Show a0001c0002t0001g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0007g0032 a0001c0002t0007g0034 a0001c0002t0043g0156 a0001c0003t0005g0125	9	330	0.0273	-140	c.-11 others(19): Show c.-114-5510_-114-5371del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(133): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01993.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0026 a0002c0006t0006 a0002c0006t0026	a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 others(1): Show a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047	5	218	0.0229	-140	c.212 others(17): Show c.212-3446_212-3307del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850398	ATATATTA others(133): Show ATATATTATGTATAATATATATAATATATTATATATATTATGTATAATAT ATATTATATATTATACATAATATATATTATATATTATATATTATGTATAA TATATGTTATATATATAATATATATTATGTATAATATATGT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20905.hp2 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0123 a0001c0001t0122 a0001c0001t0123	a0001c0001t0122g0251 a0001c0001t0123g0252 a0001c0001t0122g0251 a0001c0001t0123g0252	2	310	0.0065	-140	c.784 others(15): Show c.784+736_784+875del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNTG2_chr2_945849_1372613	1222457	AGCTGGAG others(133): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA AGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	190	0.0053	-140	c.719 others(19): Show c.719+13259_719+13398del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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