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
PCGF3_chr4_700832_775089	744926	GCCCGGGG others(108): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02735.hp1 HG02145.hp1 HG02145.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0031 a0001c0001t0002 a0001c0001t0004 a0001c0001t0031	a0001c0001t0002g0337 a0001c0001t0004g0281 a0001c0001t0031g0110 a0001c0001t0002g0337 a0001c0001t0004g0281 a0001c0001t0031g0110	3	353	0.0085	-115	c.462 others(15): Show c.462+267_462+381del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746181	CGGGGGTC others(108): Show CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	357	0.0028	-115	c.462 others(17): Show c.462+1498_462+1612del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747343	CTCTCCGT others(108): Show CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0076 a0002c0002t0016g0076	1	340	0.0029	-115	c.462 others(17): Show c.462+2658_462+2772del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PERM1_chr1_970198_987093	977725	CCGACCAA others(108): Show CCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGC CTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCG GGAACCGCCTCCCAAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03453.hp2 NA18957.hp1 others(3): Show HG01099.hp2 HG03453.hp2 NA18957.hp1 NA19011.hp1 NA19054.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0001c0001t0001 a0001c0001t0002 a0004c0004t0002	a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0002g0094 others(3): Show a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0002g0094 a0001c0001t0002g0151 a0004c0004t0002g0160 a0004c0004t0002g0163	6	397	0.0151	-115	c.214 others(19): Show c.2149+1041_2150-1102del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKFB3_chr10_6197932_6240532	6206809	CCGGGCAG others(108): Show CCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAG ACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT CCCAGACGATGGGCGG	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	430	0.0023	-115	c.76+ others(15): Show c.76+3475_76+3589del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHRF1_chr11_571470_617222	585208	TGCCCTTT others(108): Show TGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	267	0.0037	-115	c.215 others(17): Show c.215-1864_215-1750del	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PID1_chr2_229018973_229276287	229184673	GTATATAT others(108): Show GTATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTA TATATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTAT ATATATATCCCGTATA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	215	0.0047	-115	c.31- others(17): Show c.31-28824_31-28710del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIGQ_chr16_564968_589109	571118	CTGGTGCC others(108): Show CTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGC TAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGTTAGCCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0049 a0001c0004t0004g0049	1	405	0.0025	-115	c.-10 others(17): Show c.-10+1025_-10+1139del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIK3R5_chr17_8873916_8970707	8885659	GGGCCCCG others(108): Show GGGCCCCGCCTCCCCATGGCCCTGCCTCCTAGGTAACCCCGCCCTCCCAT GGCCCCACCTCCTGGGTAACCCCGCCCTCCCATGGCCCCACCTCCTGGGT AACCCCGCCCTCCCAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(55): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18945.hp1 NA18951.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp2 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19082.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0014 a0002c0008 others(1): Show a0001c0002 a0001c0014 a0002c0008 a0008c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0014t0001 a0002c0008t0002 a0008c0018t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0010 others(54): Show a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0223 a0001c0002t0001g0239 a0001c0002t0001g0244 a0001c0002t0001g0266 a0001c0002t0001g0282 a0001c0002t0001g0293 a0001c0002t0002g0116 a0001c0002t0003g0014 a0001c0002t0003g0099 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0008g0006 a0001c0002t0009g0004 a0001c0014t0001g0258 a0002c0008t0002g0025 a0002c0008t0002g0095 a0002c0008t0002g0112 a0008c0018t0001g0207	58	296	0.1959	-115	c.212 others(17): Show c.2128+455_2128+569del	PIK3R5	ENSG00000141506.15	transcript	ENST00000447110.6	protein_coding	14/18			chr17	TogoVar
PINX1_chr8_10759961_10844875	10767758	ACAGCCAC others(108): Show ACAGCCACACAGAGACAGGCTCGGTGACCAGGCACCCTCACAGCCACACA GAGACAGGCTCGGTGACCAGGCACCCTCACAGCCACACAGAGACAGGCTC GGTGACCAGGCACCCT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18982.hp1 NA19068.hp2 NA18977.hp1 NA18982.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095	3	352	0.0085	-115	c.472 others(17): Show c.472-1957_472-1843del	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6			chr8	TogoVar
PJA2_chr5_109329722_109414974	109342296	CCCGGCCA others(108): Show CCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGATCGGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCC CGGCCAGCCGCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0066	1	344	0.0029	-115	c.200 others(19): Show c.2001+1779_2001+1893del	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401763	CACCCCCG others(108): Show CACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCC CCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGG ACCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0010 a0001c0007t0001g0010	1	213	0.0047	-115	c.173 others(19): Show c.1737+1066_1737+1180del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977725	CCGACCAA others(108): Show CCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGGAACCGC CTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCAACCCCG GGAACCGCCTCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02717.hp1 HG03453.hp1 others(4): Show HG01099.hp1 HG02717.hp1 HG03453.hp1 NA18949.hp1 NA18957.hp1 NA19011.hp1 NA19054.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0002c0006 others(2): Show a0001c0001 a0001c0010 a0002c0006 a0002c0008 a0004c0004	a0001c0001t0007 a0001c0001t0015 a0001c0010t0003 others(4): Show a0001c0001t0007 a0001c0001t0015 a0001c0010t0003 a0002c0006t0038 a0002c0008t0001 a0002c0008t0026 a0004c0004t0008	a0001c0001t0007g0165 a0001c0001t0015g0001 a0001c0010t0003g0082 others(4): Show a0001c0001t0007g0165 a0001c0001t0015g0001 a0001c0010t0003g0082 a0002c0006t0038g0022 a0002c0008t0001g0014 a0002c0008t0026g0005 a0004c0004t0008g0107	7	410	0.0171	-115	c.31 others(11): Show c.3151_*3265del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1861		chr1	TogoVar
POLG_chr15_89311320_89339824	89314085	GACCTACA others(108): Show GACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAAC GTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACA CACACACACACGTAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03471.hp1 NA18906.hp2 HG01884.hp1 HG03471.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	3	396	0.0076	-115	c.25 others(11): Show c.2551_*2665del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding		2234		chr15	TogoVar
PPP2R2C_chr4_6315581_6477614	6353759	AACACCGA others(108): Show AACACCGACAGCCCCCAACACCGACAGCCCCACACACCAACAGCGCCCCC ACACCGACAGCCCCCAACACCGACAGCCCCCAACACCGACAGCCGCCCCA CACCGACAGCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	129	0.0078	-115	c.626 others(17): Show c.626-5864_626-5750del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	5/8			chr4	TogoVar
PRKCZ_chr1_2045411_2190395	2106570	TCAGCAAG others(108): Show TCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCA CCAGGCCAGGTAACTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	284	0.0035	-115	c.335 others(19): Show c.335-28691_335-28577del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133105	CCTCCCAA others(108): Show CCTCCCAAAGTGCTGGGATTACGGGTGTGACCCACCGCGCCCGGCCGAGA TGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAACT AATCCGCCTGCCTCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA21309.hp2 HG02809.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0024 a0001c0001t0001g0087	2	226	0.0088	-115	c.16 others(11): Show c.1674_*1788del	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		1393		chr19	TogoVar
PUM1_chr1_30926506_31070717	30972352	GGGAGGGG others(108): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAG AGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18939.hp2 NA18953.hp2 others(3): Show HG02056.hp2 NA18939.hp2 NA18953.hp2 NA18966.hp1 NA18968.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0060 a0001c0001t0004g0015 a0001c0001t0004g0016 others(3): Show a0001c0001t0001g0060 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0057 a0001c0001t0004g0084 a0001c0001t0004g0180	6	299	0.0201	-115	c.150 others(19): Show c.1506+2184_1506+2298del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RAB12_chr18_8604437_8644383	8634166	ATGGTGAC others(108): Show ATGGTGACTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAAGCAAGAG GATCACTTGAACCCAGGAGGTCGAGACCAGCCTGGGCAACATAGTGGGAC TCCATCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(108): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0003t0001 a0003c0004t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0004g0034 a0001c0001t0004g0093 a0001c0001t0004g0102 a0001c0001t0004g0115 a0001c0001t0008g0037 a0001c0003t0001g0002 a0003c0004t0001g0129 a0004c0006t0001g0169	111	397	0.2796	-115	c.714 others(15): Show c.714+841_714+955del	RAB12	ENSG00000206418.5	transcript	ENST00000649141.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
RER1_chr1_2386841_2410436	2392725	TAAAGGGT others(108): Show TAAAGGGTTCTCAGTAATTCAGACTCTCACATGGCTTCTGCCGTATGCCT GAGGTGACGGCGACGGCGGTAACAGTGTGTCAGAGCCAGGTGGAGATATA AGATGGTCAGGCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	352	0.0028	-115	c.-8+ others(13): Show c.-8+769_-8+883del	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGPD4_chr2_107821892_107897544	107827637	CGACGGGC others(108): Show CGACGGGCGCTGCTCCCTGGCACGCTCTGTTGAGGCGGCGGCCTCGACCT GGCTGGGCGGCGGCGGCCTGGACCTGGCCCGGCGGCGGCCTCGATGGCTC AGGCGTCATGGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01070.hp2 others(9): Show HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01243.hp1 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG02293.hp2 HG02300.hp1 HG03688.hp1	a0005 a0009 a0033 a0005 a0009 a0033	a0005c0005 a0005c0044 a0009c0011 others(1): Show a0005c0005 a0005c0044 a0009c0011 a0033c0049	a0005c0005t0004 a0005c0044t0004 a0009c0011t0004 others(1): Show a0005c0005t0004 a0005c0044t0004 a0009c0011t0004 a0033c0049t0004	a0005c0005t0004g0230 a0005c0005t0004g0231 a0005c0005t0004g0233 others(9): Show a0005c0005t0004g0230 a0005c0005t0004g0231 a0005c0005t0004g0233 a0005c0005t0004g0238 a0005c0005t0004g0239 a0005c0005t0004g0362 a0005c0044t0004g0240 a0009c0011t0004g0234 a0009c0011t0004g0235 a0009c0011t0004g0236 a0009c0011t0004g0237 a0033c0049t0004g0232	12	372	0.0323	-115	c.72+ others(13): Show c.72+573_72+687del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827809	CGGCGGCC others(108): Show CGGCGGCCTCGATGGCTCAGGCGTCATGCCTCCCGACCGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCTGGCCGGGCGGCGGCGGC CTCGACCTGGCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG02970.hp2 HG02257.hp2 HG02717.hp1 HG02970.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0012 a0006c0008t0005 a0006c0008t0012	a0006c0008t0005g0205 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0005g0205 a0006c0008t0012g0203 a0006c0008t0012g0204	3	371	0.0081	-115	c.72+ others(13): Show c.72+746_72+860del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827831	GTCATGCC others(108): Show GTCATGCCTCCCGACCGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGC GGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGAGGCGGC CTCGATGGCTCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp1 HG02886.hp2 others(4): Show HG01081.hp2 HG02451.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03471.hp1	a0006 a0006	a0006c0007 a0006c0008 a0006c0077 a0006c0007 a0006c0008 a0006c0077	a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 others(1): Show a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 a0006c0077t0030	a0006c0007t0005g0196 a0006c0008t0005g0206 a0006c0008t0005g0207 others(4): Show a0006c0007t0005g0196 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0210 a0006c0077t0030g0202	7	372	0.0188	-115	c.72+ others(13): Show c.72+752_72+866del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828043	CTCCCGAC others(108): Show CTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCG ACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATG GCTCAGGCATCATGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG02970.hp2 HG02257.hp2 HG02717.hp1 HG02970.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0012 a0006c0008t0005 a0006c0008t0012	a0006c0008t0005g0205 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0005g0205 a0006c0008t0012g0203 a0006c0008t0012g0204	3	372	0.0081	-115	c.72+ others(15): Show c.72+1073_72+1187del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828158	TTCCCGAC others(108): Show TTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCG ACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATG GCTCAGGCATCATGGC	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG03041.hp1 others(2): Show HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0012 a0006c0008t0005 a0006c0008t0012	a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 others(2): Show a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0210	5	136	0.0368	-115	c.72+ others(15): Show c.72+1073_72+1187del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828662	CGACGGGC others(108): Show CGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCAGCGGCCTCGACCT GGCCGGGCGGCGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTC AGGCATCATGGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02735.hp1 others(3): Show HG01884.hp2 HG02451.hp2 HG02735.hp1 HG03540.hp1 NA18522.hp1 NA19240.hp1	a0004 a0010 a0032 a0004 a0010 a0032	a0004c0004 a0010c0012 a0032c0056 a0004c0004 a0010c0012 a0032c0056	a0004c0004t0002 a0010c0012t0008 a0032c0056t0008 a0004c0004t0002 a0010c0012t0008 a0032c0056t0008	a0004c0004t0002g0128 a0010c0012t0008g0183 a0010c0012t0008g0184 others(3): Show a0004c0004t0002g0128 a0010c0012t0008g0183 a0010c0012t0008g0184 a0010c0012t0008g0185 a0010c0012t0008g0186 a0032c0056t0008g0187	6	372	0.0161	-115	c.72+ others(15): Show c.72+1613_72+1727del	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50679371	GGTGGCTC others(108): Show GGTGGCTCACACCTGTAATCCCAGCAATTTGGGAGGCTGAGGTGGGAGGA TCGCTTGAGTTCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAGATCC CATCTCCACTGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	278	0.0036	-115	c.3+1 others(15): Show c.3+11640_3+11754del	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF212_chr4_1066478_1118564	1087123	GGGGGAGA others(108): Show GGGGGAGAGAGGATGGGGTGGGGGTGAGAGGATGGGTGGGGGAGAGAGGA TGGCATTGGGGGTGGCAGGACAGAAGTGGGGGTGAGAGGATGGGGTAGGG GAGAGAGGACGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG06807.hp2 others(1): Show HG02922.hp2 HG03139.hp2 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0013 a0001c0002t0004g0038 a0001c0002t0004g0039	4	118	0.0339	-115	c.304 others(17): Show c.304-1284_304-1170del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	4/9			chr4	TogoVar
RPTOR_chr17_80539838_80971368	80665331	CCCTTTCC others(108): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02895.hp1 HG03491.hp2 others(2): Show HG01099.hp2 HG02895.hp1 HG03491.hp2 NA19009.hp1 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0020 others(2): Show a0001c0003 a0001c0008 a0001c0020 a0001c0055 a0001c0080	a0001c0003t0038 a0001c0008t0021 a0001c0020t0048 others(2): Show a0001c0003t0038 a0001c0008t0021 a0001c0020t0048 a0001c0055t0049 a0001c0080t0011	a0001c0003t0038g0090 a0001c0008t0021g0094 a0001c0020t0048g0097 others(2): Show a0001c0003t0038g0090 a0001c0008t0021g0094 a0001c0020t0048g0097 a0001c0055t0049g0086 a0001c0080t0011g0080	5	94	0.0532	-115	c.348 others(19): Show c.348+21579_348+21693del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477010	GATGCCCC others(108): Show GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCA CTCCACAGCCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01168.hp2 others(24): Show HG00735.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01943.hp2 HG01978.hp2 HG02280.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp2 NA18967.hp2 NA19010.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0004c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0155 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0192 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0304 a0001c0001t0001g0308 a0001c0001t0001g0316 a0001c0001t0001g0358 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0243 a0001c0001t0002g0283 a0001c0001t0002g0294 a0001c0001t0003g0233 a0001c0001t0004g0154 a0001c0001t0004g0168 a0001c0001t0004g0202 a0001c0001t0005g0314 a0001c0001t0006g0178 a0001c0002t0001g0136 a0001c0002t0002g0112 a0004c0008t0001g0296	27	264	0.1023	-115	c.727 others(15): Show c.727+166_727+280del	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
SCUBE1_chr22_43192280_43348372	43280996	TGTCACCT others(108): Show TGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGT CACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCA CCTCCTCCTCAGTCAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0001 a0002c0059t0001	a0002c0059t0001g0118 a0002c0059t0001g0118	1	276	0.0036	-115	c.484 others(18): Show c.484+9935_484+10049del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SGTA_chr19_2749715_2788273	2777271	AGGCGCAG others(108): Show AGGCGCAGTGGCTCACACCTGTGATCCCAGCAGCACTTCGGGAGGCCAAA GCGGGGGGATCACTTGAGCATAGGAATTCAAGAGCAGCCTGGGCAACATA GGGAGACCCCATCTCT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03516.hp2 HG02723.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0310 a0001c0003t0001g0311	2	390	0.0051	-115	c.-24 others(17): Show c.-24+5847_-24+5961del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SIGIRR_chr11_400716_419999	401763	CACCCCCG others(108): Show CACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCC CCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGG ACCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0096 a0001c0006t0001g0096	1	240	0.0042	-115	c.40 others(11): Show c.4018_*4132del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3952		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070874	GAGCCCCC others(108): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGTATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0087 a0002c0004t0022g0087	1	113	0.0088	-115	c.224 others(19): Show c.2241+2644_2241+2758del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071832	GAGCCCCC others(108): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02615.hp1 HG00733.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0020 a0001c0001t0001 a0001c0018t0020	a0001c0001t0001g0094 a0001c0018t0020g0076 a0001c0001t0001g0094 a0001c0018t0020g0076	2	112	0.0179	-115	c.224 others(19): Show c.2241+1686_2241+1800del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC26A4_chr7_107655828_107722809	107680063	TTATTATA others(108): Show TTATTATATAATATATTCTTATCTTATTATATAATCTTATCTTATTATAT AATATAATCTTATCTTATTATATAATATAATCTTATCTTATTATATAATA TAATCTTATCTTATTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0027 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0027 a0003c0003t0003g0176 a0003c0003t0003g0177	3	359	0.0084	-115	c.766 others(17): Show c.766-3135_766-3021del	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC39A14_chr8_22362278_22427736	22396417	GGGGGGAG others(108): Show GGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0241 a0001c0003t0023g0241	1	317	0.0032	-115	c.-15 others(17): Show c.-15-8273_-15-8159del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79919501	TGGGGAGA others(108): Show TGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAAGGTCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0281 a0001c0001t0007g0175 a0001c0001t0007g0281	2	349	0.0057	-115	c.392 others(15): Show c.392-216_392-102del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919730	TGAGGAGA others(108): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp2 HG02559.hp2 others(3): Show HG00597.hp2 HG02109.hp2 HG02559.hp2 HG03225.hp2 HG03834.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0028 a0001c0001t0039	a0001c0001t0005g0207 a0001c0001t0010g0166 a0001c0001t0010g0174 others(3): Show a0001c0001t0005g0207 a0001c0001t0010g0166 a0001c0001t0010g0174 a0001c0001t0010g0177 a0001c0001t0028g0264 a0001c0001t0039g0259	6	328	0.0183	-115	c.392 others(15): Show c.392-445_392-331del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920646	TGAGGAGA others(108): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG04184.hp2 HG01192.hp1 HG02738.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0006 a0001c0001t0035	a0001c0001t0006g0239 a0001c0001t0006g0257 a0001c0001t0035g0241 a0001c0001t0006g0239 a0001c0001t0006g0257 a0001c0001t0035g0241	3	316	0.0095	-115	c.392 others(17): Show c.392-1361_392-1247del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921076	ACAGGAAC others(108): Show ACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGT GAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGG TCAGAGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0172 a0001c0001t0010g0172	1	335	0.0030	-115	c.392 others(17): Show c.392-1791_392-1677del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921077	CAGGAACC others(108): Show CAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTG AGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0101 a0001c0001t0018g0101	1	299	0.0033	-115	c.392 others(17): Show c.392-1792_392-1678del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921219	TGAGGAGA others(108): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03654.hp2 HG04115.hp2 HG01261.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 a0001c0001t0003 a0001c0001t0012 a0001c0001t0022	a0001c0001t0003g0323 a0001c0001t0012g0333 a0001c0001t0022g0308 a0001c0001t0003g0323 a0001c0001t0012g0333 a0001c0001t0022g0308	3	318	0.0094	-115	c.392 others(17): Show c.392-1934_392-1820del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921326	GGGTCAGA others(108): Show GGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18969.hp2 NA19002.hp2 HG00408.hp1 NA18969.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0045 a0001c0001t0004 a0001c0001t0045	a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0045g0314 a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0045g0314	3	205	0.0146	-115	c.392 others(17): Show c.392-2041_392-1927del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921372	TGAGGAGA others(108): Show TGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGA GAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	337	0.0030	-115	c.392 others(17): Show c.392-2087_392-1973del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SNTG2_chr2_945849_1372613	1342817	TCCCCCTG others(108): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02300.hp2 HG04184.hp1 others(1): Show HG00735.hp1 HG02300.hp2 HG04184.hp1 NA18970.hp1	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0008 a0006c0009 a0006c0010 others(1): Show a0003c0008 a0006c0009 a0006c0010 a0012c0019	a0003c0008t0001 a0006c0009t0001 a0006c0010t0001 others(1): Show a0003c0008t0001 a0006c0009t0001 a0006c0010t0001 a0012c0019t0001	a0003c0008t0001g0096 a0006c0009t0001g0129 a0006c0010t0001g0010 others(1): Show a0003c0008t0001g0096 a0006c0009t0001g0129 a0006c0010t0001g0010 a0012c0019t0001g0157	4	158	0.0253	-115	c.148 others(21): Show c.1489-24521_1489-24407del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1342931	TCCCCCTG others(108): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG03225.hp2 HG02630.hp1 HG03209.hp1 HG03225.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0015 a0004c0004 a0005c0015	a0004c0004t0001 a0005c0015t0001 a0004c0004t0001 a0005c0015t0001	a0004c0004t0001g0180 a0004c0004t0001g0181 a0005c0015t0001g0153 a0004c0004t0001g0180 a0004c0004t0001g0181 a0005c0015t0001g0153	3	165	0.0182	-115	c.148 others(21): Show c.1489-24407_1489-24293del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343045	TCCCCCTG others(108): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0094 a0002c0003t0001g0094	1	157	0.0064	-115	c.148 others(21): Show c.1489-24293_1489-24179del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345993	TCCCCCTG others(108): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01099.hp2 others(30): Show HG00099.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02071.hp2 HG02132.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03453.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18943.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19084.hp2	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0007 a0010 a0013 a0019	a0001c0001 a0001c0002 a0003c0007 others(7): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0006c0009 a0006c0010 a0007c0016 a0010c0013 a0013c0018 a0019c0030	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0003c0007t0001 a0003c0008t0001 a0006c0009t0001 a0006c0010t0001 a0007c0016t0001 a0010c0013t0001 a0013c0018t0001 a0019c0030t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0058 others(30): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0058 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0173 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0041 a0001c0002t0001g0092 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0172 a0001c0002t0004g0051 a0003c0007t0001g0060 a0003c0007t0001g0184 a0003c0008t0001g0132 a0003c0008t0001g0190 a0006c0009t0001g0162 a0006c0010t0001g0165 a0007c0016t0001g0005 a0010c0013t0001g0166 a0013c0018t0001g0046 a0019c0030t0001g0160	33	145	0.2276	-115	c.148 others(21): Show c.1489-21345_1489-21231del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1346107	TCCCCCTG others(108): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTGGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03225.hp2 HG03579.hp1 HG02683.hp2 HG03225.hp2 HG03579.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0015 a0001c0001 a0004c0004 a0005c0015	a0001c0001t0001 a0004c0004t0001 a0005c0015t0001 a0001c0001t0001 a0004c0004t0001 a0005c0015t0001	a0001c0001t0001g0144 a0004c0004t0001g0124 a0005c0015t0001g0153 a0001c0001t0001g0144 a0004c0004t0001g0124 a0005c0015t0001g0153	3	171	0.0175	-115	c.148 others(21): Show c.1489-21231_1489-21117del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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