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
ODAD3_chr19_11415605_11440121	11425043	GTGTATAT others(99): Show GTGTATATATGTGTATATGTGTATATATGTATATGTGTATATGTACATAT GTGTATATATGTATATATGTGTATATGTACATATGTGTATATGTGTATAT GTACATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	393	0.0025	-106	c.963 others(16): Show c.963+995_964-1015del	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OLFM1_chr9_135082668_135126180	135094968	ATCCTCAG others(99): Show ATCCTCAGCTTCCTCCCGCCTCCCCGCAGCCCCGAATGCATTTGCACAGA AGCACACACCAGTTTCCTGCAAATAAAATGCACTGGCAGGTGGCTGCACT AAAACTG	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0254 a0001c0002t0003g0254	1	358	0.0028	-106	c.301 others(15): Show c.301-894_301-789del	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAH_chr12_102831889_102922244	102868084	GTGTGTAT others(99): Show GTGTGTATATATATATATATACACATATATATACATATATGTGTATATAT ATATATATATATATATATATACACATATATATACATATATGTGTATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	242	0.0041	-106	c.442 others(17): Show c.442-1527_442-1422del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868086	GTGTATAT others(99): Show GTGTATATATATATATATACACATATATATACATATATGTGTATATATAT ATATATATATATATATATACACATATATATACATATATGTGTATATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02145.hp2 others(11): Show HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(1): Show a0001c0001 a0001c0004 a0001c0008 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0025 a0001c0004t0001 a0001c0008t0023 a0001c0008t0024 a0001c0014t0003	a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0025g0229 a0001c0004t0001g0135 a0001c0008t0023g0237 a0001c0008t0024g0236 a0001c0014t0003g0256	14	303	0.0462	-106	c.442 others(17): Show c.442-1529_442-1424del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PARVB_chr22_44019302_44177939	44114295	GGCCCTAC others(99): Show GGCCCTACACCAGAATGGATACATTGTACATTGTTACTAAAGCCTTGCAC CAACATGGACACATCATTACTAACTAAGGCCCTGCACCAACACAGATACA TTGTTAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0046 a0008c0022t0046	a0008c0022t0046g0123 a0008c0022t0046g0123	1	330	0.0030	-106	c.274 others(17): Show c.274-4742_274-4637del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12			chr22	TogoVar
PATJ_chr1_61737480_62168915	61871396	TATATGTG others(99): Show TATATGTGTATATATATACATATATATGTACATATATATGTGTATATACA CATATATATGCGTATATATATGTATATACATATATATGTGTATATATGTA TATATAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0044 a0044	a0044c0135 a0044c0135	a0044c0135t0006 a0044c0135t0006	a0044c0135t0006g0131 a0044c0135t0006g0131	1	156	0.0064	-106	c.283 others(19): Show c.2836-3842_2836-3737del	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCGF3_chr4_700832_775089	758655	TTCCGGAC others(99): Show TTCCGGACTCCAGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTC TTCTTGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp2 HG01496.hp2 others(8): Show HG00408.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02615.hp2 NA18612.hp2 NA18950.hp1 NA19012.hp1 NA19043.hp2 NA19067.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 a0002c0002t0056	a0001c0001t0002g0047 a0001c0001t0002g0148 a0001c0001t0002g0159 others(8): Show a0001c0001t0002g0047 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0279 a0001c0001t0002g0337 a0001c0001t0009g0342 a0002c0002t0002g0338 a0002c0002t0056g0339	11	361	0.0305	-106	c.463 others(17): Show c.463-2613_463-2508del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759185	TTCCGGAC others(99): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTC TTCTCGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0004 a0001c0001t0024	a0001c0001t0004g0258 a0001c0001t0024g0324 a0001c0001t0024g0335 a0001c0001t0004g0258 a0001c0001t0024g0324 a0001c0001t0024g0335	3	361	0.0083	-106	c.463 others(17): Show c.463-1997_463-1892del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759443	CTTCTCCT others(99): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp2 HG01496.hp2 others(8): Show HG00408.hp1 HG01192.hp2 HG01496.hp2 HG02145.hp2 HG02615.hp2 NA18612.hp2 NA18950.hp1 NA19012.hp1 NA19043.hp2 NA19067.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0009 a0002c0002t0002 a0002c0002t0056	a0001c0001t0002g0047 a0001c0001t0002g0148 a0001c0001t0002g0159 others(8): Show a0001c0001t0002g0047 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0279 a0001c0001t0002g0337 a0001c0001t0009g0342 a0002c0002t0002g0338 a0002c0002t0056g0339	11	281	0.0391	-106	c.463 others(17): Show c.463-1730_463-1625del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759708	CTTCTCCT others(99): Show CTTCTCCTTCCGGACTCTGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(4): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01978.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0062 a0001c0001t0002 a0001c0001t0062	a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0332 others(4): Show a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0062g0074	7	332	0.0211	-106	c.463 others(17): Show c.463-1554_463-1449del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759761	CTTCTCCT others(99): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGA GTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCC CGAGTTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	177	0.0056	-106	c.463 others(17): Show c.463-1465_463-1360del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE3A_chr12_20363537_20693583	20385983	TAATATAT others(99): Show TAATATATATAAAATATATATATAAATATATATAAAATATATATATAAAT ATATATAAAATATATATAAATATATATAAATATATATAAAATATATATAA ATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01934.hp2 HG01070.hp2 HG01071.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0047 a0001c0001t0014 a0001c0001t0047	a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0047g0158 a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0047g0158	3	188	0.0160	-106	c.960 others(19): Show c.960+15752_960+15857del	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402354	CAGTGTGT others(99): Show CAGTGTGTATATATATATATACACACACTGTGTATATATATATATACACA CAGTGTGTATATATATATATACACACACAGTGTATATATATATATATACA CACTCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19030.hp1 NA18906.hp1 NA19030.hp1	a0005 a0005	a0005c0008 a0005c0059 a0005c0008 a0005c0059	a0005c0008t0001 a0005c0059t0001 a0005c0008t0001 a0005c0059t0001	a0005c0008t0001g0180 a0005c0059t0001g0193 a0005c0008t0001g0180 a0005c0059t0001g0193	2	179	0.0112	-106	c.844 others(21): Show c.844-104101_844-103996del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PEPD_chr19_33381950_33526791	33393160	TCCCGGGG others(99): Show TCCCGGGGTCTGGGGTCTGGCGTGGGGGAGGCCGTCCCGGGGTCTGGGGT CTGGCGTCGGGGAGGCCGTCCCGGGGTCTGGGGTCTGGGGTCTGGCGTGG GGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	312	0.0032	-106	c.968 others(17): Show c.968-1787_968-1682del	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	12/14			chr19	TogoVar
PID1_chr2_229018973_229276287	229139009	AAGAAAGA others(99): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp1 NA20752.hp1 others(1): Show HG01192.hp2 HG01978.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0012 a0001c0001t0002g0145 a0001c0001t0003g0065 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0145 a0001c0001t0003g0065 a0001c0001t0003g0214	4	253	0.0158	-106	c.177 others(19): Show c.177+16703_177+16808del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PPARGC1B_chr5_149725310_149860022	149809126	GATAGATA others(99): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCAT CTCTACC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03130.hp1 HG03710.hp1 others(2): Show HG01496.hp2 HG03130.hp1 HG03710.hp1 HG03942.hp1 NA18951.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0017 others(1): Show a0001c0001 a0001c0006 a0001c0017 a0003c0012	a0001c0001t0001 a0001c0006t0001 a0001c0006t0042 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0042 a0001c0017t0006 a0003c0012t0014	a0001c0001t0001g0220 a0001c0006t0001g0313 a0001c0006t0042g0001 others(2): Show a0001c0001t0001g0220 a0001c0006t0001g0313 a0001c0006t0042g0001 a0001c0017t0006g0219 a0003c0012t0014g0111	5	281	0.0178	-106	c.79- others(17): Show c.79-11268_79-11163del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809297	GATAGATA others(99): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCAT CTCTACC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03486.hp2 HG02647.hp1 HG02723.hp1 HG03486.hp2	a0001 a0008 a0001 a0008	a0001c0009 a0008c0016 a0001c0009 a0008c0016	a0001c0009t0009 a0008c0016t0026 a0008c0016t0036 a0001c0009t0009 a0008c0016t0026 a0008c0016t0036	a0001c0009t0009g0130 a0008c0016t0026g0262 a0008c0016t0036g0122 a0001c0009t0009g0130 a0008c0016t0026g0262 a0008c0016t0036g0122	3	315	0.0095	-106	c.79- others(17): Show c.79-11109_79-11004del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R12C_chr19_55085918_55122637	55094192	TCCTCCCT others(99): Show TCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACC CAGGAATCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCAGCC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	388	0.0026	-106	c.168 others(16): Show c.1683+47_1683+152del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
PRKG1_chr10_51069487_52303350	52302231	TACACACA others(99): Show TACACACATATGTATACACATGTATACACACACATATGTATACACATGTA TATACACACATATGTATACACATGTATATACACACATATGTATACACATG TATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	63	0.0159	-106	c.83 others(11): Show c.8332_*8437del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3882		chr10	TogoVar
PRKG1_chr10_51069487_52303350	52302242	GTATACAC others(99): Show GTATACACATGTATACACACACATATGTATACACATGTATATACACACAT ATGTATACACATGTATATACACACATATGTATACACATGTATATACACAC ATATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03688.hp1 HG00738.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0063 a0001c0005t0002g0037 a0001c0001t0002g0063 a0001c0005t0002g0037	2	48	0.0417	-106	c.83 others(11): Show c.8343_*8448del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3893		chr10	TogoVar
PRPF6_chr20_63976132_64038100	64029684	TGGTCAGA others(99): Show TGGTCAGAGACTCACTGGGGACGCATGTGATTCACACTGGTGCGCTGGCC GCCGGGTCACAGACTCACTGGGGACGCGTGTGATTCACACTGGTGCGCTG GCCGCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(56): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02698.hp2 HG02717.hp2 HG03017.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18964.hp2 NA18970.hp2 NA18980.hp1 NA18985.hp1 NA18988.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19085.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0010t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 others(53): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0234 a0001c0005t0001g0194 a0001c0009t0001g0205 a0001c0010t0001g0098	59	292	0.2021	-106	c.254 others(17): Show c.2546+208_2546+313del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMA7_chr20_62131733_62148394	62148242	AGGTCAGG others(99): Show AGGTCAGGTGAGGGAGGCTCGGCCTCCTTGCTGTCTTAGGTCAGGTGAGG GAGGCTTGGCCTCCTTGCTGTCTTAGGTGAGGGAGGCTTGGCCTCCTTGC TCTCTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	360	0.0028	-106	c.-50 others(11): Show c.-5045_-4940del	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		4849		chr20	TogoVar
PTP4A3_chr8_141387021_141437454	141395723	GTAGGTGC others(99): Show GTAGGTGCGTGGGCCACCCCTCCCTCCTGCAGCCCCCGTTCATCTACCCA GTGGGGATGTCCCCTGGCTCCTCTCCTGGCATCTTCCCGGGATGTAGGGG TGCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	318	0.0031	-106	c.-85 others(19): Show c.-854+3640_-854+3745del	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	1/5			chr8	TogoVar
PTPRD_chr9_8309246_10618002	9845045	GCTATATA others(99): Show GCTATATATAGAGCAATATATATATATATATTGCTCTATATATATAGCTA TATATATACTGCTATATATATTGCTCTATATATAGAGCAATATATATATA TATTGCT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02683.hp1 others(2): Show HG01099.hp1 HG01981.hp2 HG02683.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012	a0001c0001t0014 a0001c0001t0019 a0001c0002t0011 others(2): Show a0001c0001t0014 a0001c0001t0019 a0001c0002t0011 a0001c0007t0021 a0001c0012t0016	a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0002t0011g0030 others(2): Show a0001c0001t0014g0008 a0001c0001t0019g0023 a0001c0002t0011g0030 a0001c0007t0021g0002 a0001c0012t0016g0028	5	34	0.1471	-106	c.-36 others(21): Show c.-367-78300_-367-78195del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
RB1_chr13_48298751_48486890	48427513	TTGGGGAG others(99): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCATTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCTCCT CCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	300	0.0033	-106	c.169 others(21): Show c.1696-25384_1696-25279del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427725	TTGGGGAG others(99): Show TTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	289	0.0035	-106	c.169 others(21): Show c.1696-25097_1696-24992del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RB1_chr13_48298751_48486890	48427990	CTGGGGAG others(99): Show CTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCATTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCAT	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	119	0.0084	-106	c.169 others(21): Show c.1696-25003_1696-24898del	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26			chr13	TogoVar
RBBP8NL_chr20_62405237_62432539	62417778	GGTCATCT others(99): Show GGTCATCTGCACGCTCCTCTGTGACGTCTGTCCTGTCCACGCAACGCCCC CCCAGTCATCTGCACGCTCCTCTGTCACGTCTGTCCTGTCCACGCAACGC CCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03491.hp2 HG03492.hp2 others(3): Show HG00423.hp2 HG03491.hp2 HG03492.hp2 NA19012.hp1 NA19067.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0279 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0279 a0002c0002t0001g0001	6	409	0.0147	-106	c.104 others(15): Show c.104+539_105-460del	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62417884	AGTCATCT others(99): Show AGTCATCTGCACGCTCCTCTGTGACGTCTGTCCTGTCCACGCAACGCCCC CCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCTGTCCACACACCGC CCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02809.hp1 others(4): Show HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0011 a0005c0005t0012 a0005c0005t0021 a0001c0001t0011 a0005c0005t0012 a0005c0005t0021	a0001c0001t0011g0087 a0001c0001t0011g0088 a0001c0001t0011g0177 others(4): Show a0001c0001t0011g0087 a0001c0001t0011g0088 a0001c0001t0011g0177 a0005c0005t0012g0085 a0005c0005t0012g0089 a0005c0005t0012g0228 a0005c0005t0021g0086	7	430	0.0163	-106	c.104 others(15): Show c.104+433_104+538del	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RERGL_chr12_18075869_18095193	18086030	TTTTTTTT others(99): Show TTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCAATCTCCTGACCTCGTAATCCACCTGCCTCGGCCT CCCAAAG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	400	0.0025	-106	c.110 others(15): Show c.110-443_110-338del	RERGL	ENSG00000111404.7	transcript	ENST00000538724.6	protein_coding	2/4			chr12	TogoVar
RFT1_chr3_53083483_53135435	53095024	TTGGGAGG others(99): Show TTGGGAGGCCGAGGCGGGTAGATCGCGAGGTCAAGAGATCGAGACCGTCC TGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTG AGCTTGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	322	0.0031	-106	c.120 others(19): Show c.1209-2512_1209-2407del	RFT1	ENSG00000163933.10	transcript	ENST00000296292.8	protein_coding	11/12			chr3	TogoVar
RGS12_chr4_3288021_3444913	3309063	AGAGGAGC others(99): Show AGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCGTGT TGAGGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGAGGGGAACCG TGTTGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19004.hp2 HG01081.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0049 a0001c0001t0001g0057	2	248	0.0081	-106	c.-10 others(19): Show c.-101-6861_-101-6756del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3309541	AGAGGAGC others(99): Show AGAGGAGCTGGGGCCTGGGAATGGCAGGTGTCTGCTGAGGGGAACTGTGT TGAGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCGCTGAGGGGAACCG TGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0199 a0001c0005t0001g0199	1	191	0.0052	-106	c.-10 others(19): Show c.-101-6517_-101-6412del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310103	TCTGAGGA others(99): Show TCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTG TCTGCTGAGGGGAACTGTGTTGAGGAGGAGCTGGGACCCGGGAATGGCAG GTGTCCG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 NA20129.hp1 HG02976.hp1 HG03195.hp2 NA20129.hp1	a0001 a0016 a0001 a0016	a0001c0009 a0016c0032 a0001c0009 a0016c0032	a0001c0009t0001 a0016c0032t0001 a0001c0009t0001 a0016c0032t0001	a0001c0009t0001g0018 a0001c0009t0001g0196 a0016c0032t0001g0195 a0001c0009t0001g0018 a0001c0009t0001g0196 a0016c0032t0001g0195	3	300	0.0100	-106	c.-10 others(19): Show c.-101-5960_-101-5855del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMS3_chr1_40615680_40670682	40642776	TGAAACCC others(99): Show TGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTG GGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCGGTTA AACTGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(50): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18966.hp2 NA18979.hp2 NA18986.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19012.hp1 NA19067.hp2 NA19085.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0031 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0031 a0001c0001t0064 a0001c0001t0065 a0005c0004t0030	a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(41): Show a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0126 a0001c0001t0003g0239 a0001c0001t0003g0248 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0290 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0300 a0001c0001t0003g0303 a0001c0001t0005g0035 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0203 a0001c0001t0005g0254 a0001c0001t0005g0264 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0274 a0001c0001t0005g0276 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0031g0262 a0001c0001t0064g0268 a0001c0001t0065g0269 a0005c0004t0030g0258	53	374	0.1417	-106	c.-31 others(15): Show c.-31-926_-31-821del	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding	2/7			chr1	TogoVar
RNF212_chr4_1066478_1118564	1070461	CGTAGGAC others(99): Show CGTAGGACTGTGCTGTGTCAGCGTGGGTGCCTGGCCTGAGTTGTGGGTGG TTTTGTAGGGCTGTGCTGTGTCAGCGTGGACGCCTGGCCTGAGTTACAGG TGGTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(106): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp2 HG03490.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA20129.hp2 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0006 a0001c0001 a0003c0004 a0005c0006	a0001c0001t0001 a0003c0004t0001 a0005c0006t0001 a0001c0001t0001 a0003c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0322 a0003c0004t0001g0139 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0216 a0005c0006t0001g0128 a0005c0006t0001g0133	109	402	0.2711	-106	c.23 others(11): Show c.2307_*2412del	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		1016		chr4	TogoVar
ROBO2_chr3_77035099_77654964	77291885	ATAAACGG others(99): Show ATAAACGGGTAAGCTGAGGCTAGATCACCCCAGACGTGAAGTAAAATTGA CGGCTAAAAGTGTAAGCTGAGACTAGATCACCCCAGACATAAAGTAAAAT TGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0116 a0002c0003t0007g0116	1	158	0.0063	-106	c.389 others(21): Show c.389-185495_389-185390del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77295555	TCATAAAG others(99): Show TCATAAAGTAAAATTGACTGTTAAACGGGTAAGCTGAGGCTAGATCACCC CACACATAAAGTAAAATTGACGGTTAAACGGGTAAGCTGAGGCTAGATCA CCCCAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00642.hp1 others(40): Show HG00140.hp2 HG00597.hp1 HG00642.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04228.hp2 NA18948.hp2 NA18957.hp1 NA18959.hp1 NA19005.hp1 NA19005.hp2 NA19056.hp1 NA19060.hp1 NA19077.hp1 NA19079.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0005c0007 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0007 a0001c0002t0012 a0002c0003t0001 a0002c0003t0002 a0002c0009t0002 a0005c0007t0002 a0006c0005t0002	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0039 others(40): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0099 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0002g0027 a0001c0001t0002g0079 a0001c0001t0002g0143 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0101 a0001c0001t0003g0142 a0001c0001t0004g0067 a0001c0001t0004g0119 a0001c0001t0004g0133 a0001c0001t0005g0044 a0001c0001t0005g0095 a0001c0001t0005g0129 a0001c0001t0005g0145 a0001c0001t0005g0159 a0001c0001t0006g0015 a0001c0001t0009g0089 a0001c0001t0009g0093 a0001c0001t0013g0098 a0001c0001t0020g0009 a0001c0001t0023g0033 a0001c0001t0025g0078 a0001c0001t0029g0042 a0001c0001t0034g0120 a0001c0001t0038g0052 a0001c0001t0039g0063 a0001c0001t0040g0057 a0001c0002t0007g0113 a0001c0002t0007g0115 a0001c0002t0007g0117 a0001c0002t0012g0114 a0002c0003t0001g0136 a0002c0003t0002g0108 a0002c0009t0002g0080 a0005c0007t0002g0083 a0006c0005t0002g0088	43	160	0.2688	-106	c.389 others(21): Show c.389-181842_389-181737del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPSA2_chr19_23758004_23833868	23833171	GGTCCTCA others(99): Show GGTCCTCAGCCCTAACTAAACATAAGAAAATTTATACTTGAAAGCAACCC TACAAATGGGAAAAATTTGGCAAACCTTTAATCCTTACAACTTAATGCAC ATAAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0059 a0003c0003t0059	a0003c0003t0059g0196 a0003c0003t0059g0196	1	364	0.0027	-106	c.51 others(11): Show c.5123_*5228del	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		4304		chr19	TogoVar
RSU1_chr10_16585611_16822424	16645928	ACACATAT others(99): Show ACACATATGTGTATATATATGTGTATATACATATATGTGTATATATATGT GTATATACATATATGTGTATATATATGTGTATATACATATATGTGTATAT ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02723.hp2 HG02896.hp1 others(4): Show HG00642.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0002t0016 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0002t0016 a0001c0002t0019 a0001c0002t0040 a0001c0002t0045	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0013g0045 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0013g0045 a0001c0002t0016g0012 a0001c0002t0019g0005 a0001c0002t0040g0063 a0001c0002t0045g0023	7	160	0.0438	-106	c.731 others(19): Show c.731+48989_731+49094del	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SARDH_chr9_133658560_133743352	133705318	GAATTACC others(99): Show GAATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTATAG AATTAATTACCACCTGCCCCATCTGCCCTCACCCTGAGAACCCCCATCTA TAGAATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18983.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015	a0001c0001 a0001c0006 a0001c0007 others(48): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0030 a0001c0041 a0001c0042 a0001c0059 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0010 a0002c0012 a0002c0014 a0002c0015 a0002c0018 a0002c0020 a0002c0021 a0002c0025 a0002c0034 a0002c0043 a0002c0060 a0003c0003 a0003c0009 a0003c0013 a0003c0017 a0003c0022 a0003c0026 a0003c0028 a0003c0029 a0003c0035 a0003c0040 a0003c0050 a0003c0056 a0003c0057 a0003c0058 a0003c0061 a0003c0063 a0004c0023 a0004c0067 a0005c0019 a0006c0038 a0006c0062 a0007c0036 a0009c0068 a0010c0045 a0011c0046 a0012c0066 a0013c0044 a0015c0065	a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 others(57): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0001c0030t0001 a0001c0041t0001 a0001c0042t0001 a0001c0059t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0010t0002 a0002c0012t0001 a0002c0014t0001 a0002c0015t0001 a0002c0018t0002 a0002c0020t0002 a0002c0021t0001 a0002c0021t0002 a0002c0025t0001 a0002c0034t0002 a0002c0043t0002 a0002c0060t0002 a0003c0003t0001 a0003c0009t0001 a0003c0013t0002 a0003c0017t0001 a0003c0017t0002 a0003c0022t0001 a0003c0026t0001 a0003c0028t0001 a0003c0029t0001 a0003c0035t0002 a0003c0040t0002 a0003c0050t0001 a0003c0056t0002 a0003c0057t0001 a0003c0058t0002 a0003c0061t0001 a0003c0063t0001 a0004c0023t0001 a0004c0023t0003 a0004c0067t0002 a0005c0019t0001 a0006c0038t0001 a0006c0062t0001 a0007c0036t0001 a0009c0068t0001 a0010c0045t0001 a0011c0046t0003 a0012c0066t0001 a0013c0044t0001 a0015c0065t0001	a0001c0001t0001g0212 a0001c0006t0001g0012 a0001c0006t0001g0025 others(135): Show a0001c0001t0001g0212 a0001c0006t0001g0012 a0001c0006t0001g0025 a0001c0006t0001g0136 a0001c0006t0001g0171 a0001c0006t0002g0148 a0001c0007t0001g0213 a0001c0011t0001g0101 a0001c0011t0001g0109 a0001c0011t0002g0098 a0001c0011t0002g0099 a0001c0011t0002g0107 a0001c0030t0001g0239 a0001c0041t0001g0093 a0001c0042t0001g0085 a0001c0059t0001g0021 a0002c0002t0001g0002 a0002c0002t0001g0186 a0002c0002t0001g0260 a0002c0002t0002g0208 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0227 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0022 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0034 a0002c0004t0001g0036 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0077 a0002c0004t0001g0137 a0002c0004t0001g0139 a0002c0004t0001g0159 a0002c0005t0001g0086 a0002c0005t0001g0114 a0002c0005t0001g0124 a0002c0005t0002g0094 a0002c0005t0002g0095 a0002c0005t0002g0097 a0002c0005t0002g0104 a0002c0005t0002g0110 a0002c0005t0002g0115 a0002c0005t0002g0125 a0002c0005t0002g0130 a0002c0008t0001g0026 a0002c0008t0001g0044 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0001g0232 a0002c0008t0002g0016 a0002c0008t0002g0061 a0002c0008t0002g0175 a0002c0010t0001g0015 a0002c0010t0001g0035 a0002c0010t0001g0042 a0002c0010t0001g0078 a0002c0010t0001g0138 a0002c0010t0001g0140 a0002c0010t0002g0037 a0002c0012t0001g0001 a0002c0012t0001g0084 a0002c0012t0001g0112 a0002c0012t0001g0118 a0002c0012t0001g0119 a0002c0014t0001g0220 a0002c0014t0001g0228 a0002c0015t0001g0108 a0002c0015t0001g0113 a0002c0015t0001g0116 a0002c0015t0001g0121 a0002c0018t0002g0105 a0002c0018t0002g0120 a0002c0018t0002g0127 a0002c0020t0002g0018 a0002c0020t0002g0205 a0002c0021t0001g0149 a0002c0021t0001g0224 a0002c0021t0002g0207 a0002c0025t0001g0089 a0002c0025t0001g0090 a0002c0034t0002g0062 a0002c0034t0002g0153 a0002c0043t0002g0141 a0002c0060t0002g0023 a0003c0003t0001g0055 a0003c0003t0001g0143 a0003c0003t0001g0254 a0003c0009t0001g0250 a0003c0009t0001g0251 a0003c0009t0001g0255 a0003c0013t0002g0024 a0003c0013t0002g0039 a0003c0013t0002g0051 a0003c0013t0002g0052 a0003c0013t0002g0053 a0003c0013t0002g0054 a0003c0017t0001g0008 a0003c0017t0002g0006 a0003c0017t0002g0007 a0003c0022t0001g0029 a0003c0022t0001g0032 a0003c0026t0001g0258 a0003c0026t0001g0259 a0003c0028t0001g0087 a0003c0028t0001g0111 a0003c0029t0001g0117 a0003c0035t0002g0041 a0003c0035t0002g0043 a0003c0040t0002g0123 a0003c0050t0001g0009 a0003c0056t0002g0038 a0003c0057t0001g0226 a0003c0058t0002g0160 a0003c0061t0001g0223 a0003c0063t0001g0221 a0004c0023t0001g0234 a0004c0023t0001g0235 a0004c0023t0003g0004 a0004c0067t0002g0236 a0005c0019t0001g0081 a0005c0019t0001g0082 a0005c0019t0001g0083 a0006c0038t0001g0092 a0006c0062t0001g0040 a0007c0036t0001g0058 a0009c0068t0001g0059 a0010c0045t0001g0088 a0011c0046t0003g0003 a0012c0066t0001g0233 a0013c0044t0001g0100 a0015c0065t0001g0201	140	247	0.5668	-106	c.147 others(17): Show c.1471-393_1471-288del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	11/20			chr9	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(99): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0258 a0001c0002t0006g0258	1	264	0.0038	-106	c.-47 others(11): Show c.-4737_-4632del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4578		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990996	CTTTCTTT others(99): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG03688.hp1 others(5): Show HG02145.hp1 HG02717.hp1 HG03688.hp1 NA18951.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0157 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0157 a0001c0001t0001g0202 a0001c0001t0003g0003 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0240	8	302	0.0265	-106	c.-47 others(11): Show c.-4725_-4620del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4566		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1289491	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	286	0.0035	-106	c.166 others(17): Show c.1663-778_1663-673del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289948	CCGTGTCT others(99): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	284	0.0035	-106	c.166 others(17): Show c.1663-321_1663-216del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCPEP1_chr17_56973131_57011768	57008710	TATGCATG others(99): Show TATGCATGCATCACCTGAATGTGGACCGCTATGGCACCACGGCCACACTC CAGGACAGCCCTGAAAGATGGTGTGAAGAGAAATCCTCCCAGTGGACAGA ACTTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	378	0.0026	-106	c.24 others(11): Show c.2476_*2581del	SCPEP1	ENSG00000121064.13	transcript	ENST00000262288.8	protein_coding		1943		chr17	TogoVar
SDC2_chr8_96488813_96616790	96502452	AAAATAAC others(99): Show AAAATAACTTTCATTCTAGATAGAAGACTACATGACTTGATATACTGGGG GTCTTTTTAAACTATAAATCTCATAAAGTGTTTTAGTCTCCTCATATGGT TTCTGGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp1 HG02280.hp1 HG02683.hp1 HG02717.hp2 HG02895.hp1 HG03017.hp1 HG03098.hp2 HG03540.hp1 HG03834.hp2 HG04204.hp2 NA18941.hp1 NA18956.hp2 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19067.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0002c0002t0001 a0002c0002t0003 a0002c0005t0004 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0236 a0001c0001t0004g0001 a0001c0001t0004g0032 a0001c0001t0004g0037 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0055 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0013g0048 a0001c0001t0014g0056 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0049 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0058 a0002c0002t0001g0026 a0002c0002t0001g0035 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0070 a0002c0002t0003g0230 a0002c0005t0004g0047 a0003c0004t0001g0008 a0003c0004t0001g0060 a0003c0004t0001g0065 a0003c0004t0001g0066 a0003c0004t0001g0067 a0003c0004t0001g0068	49	332	0.1476	-106	c.60+ others(15): Show c.60+8122_60+8227del	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4			chr8	TogoVar
SDK1_chr7_3296252_4274000	4194346	AGATATAT others(99): Show AGATATATGTATGCACGTATGTGTATACATGTATGTGTATACATGTATAC ATATATGTATGCACATATGTGTATACATGTATACGTATATACATATATGT ATACATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01516.hp1 HG02717.hp1 others(3): Show HG01167.hp2 HG01516.hp1 HG02717.hp1 HG02896.hp1 HG03471.hp1 NA18906.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0008 a0001c0038 a0001c0040 others(3): Show a0001c0008 a0001c0038 a0001c0040 a0001c0060 a0002c0013 a0032c0075	a0001c0008t0004 a0001c0038t0013 a0001c0040t0001 others(3): Show a0001c0008t0004 a0001c0038t0013 a0001c0040t0001 a0001c0060t0041 a0002c0013t0064 a0032c0075t0008	a0001c0008t0004g0095 a0001c0038t0013g0038 a0001c0040t0001g0040 others(3): Show a0001c0008t0004g0095 a0001c0038t0013g0038 a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023 a0032c0075t0008g0015	6	116	0.0517	-106	c.509 others(21): Show c.5099-11532_5099-11427del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4262775	TCCACCCC others(99): Show TCCACCCCCTCTCCTCCCCTCCCTTCTACCTCATCACCCCCTACCCCTCC CCTCCCCTCTACCTAATCACCTCCCCACCCCCTCCCCTCCCTTCTACCTC ATCACCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	-106	c.638 others(19): Show c.6382-2326_6382-2221del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SENP1_chr12_48037897_48111079	48056882	TAATATAT others(99): Show TAATATATTATTTAATATATTACATATTACATATATAATATATTATTTAA TATATTACATATTACATATATAATATATTATTTAATATATTACATATTAC ATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG03225.hp1 others(3): Show HG01891.hp2 HG02055.hp2 HG03225.hp1 NA18747.hp2 NA19004.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0274 others(3): Show a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0274 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0016g0340	6	391	0.0153	-106	c.140 others(19): Show c.1407+6722_1407+6827del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar

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