Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PPA2_chr4_105364077_105479062	105366666	ATTTTGGA others(79): Show ATTTTGGACAATTTCTCCCACTTGAAATGGCTGTATTTACCCACTACCTG TACCCCCATTGTATCTAGGAAGTAACTAACTTGCTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	366	0.0027	-86	c.29 others(97): Show c.2973_*3058delAAAGCAAGTTAGTTACTTCCTAGATACAATGGGG GTACAGGTAGTGGGTAAATACAGCCATTTCAAGTGGGAGAAATTGTCCAA AA	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding		2410		chr4	TogoVar
PPARGC1B_chr5_149725310_149860022	149809340	CCATCTCT others(79): Show CCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATA GATCCATCTCTACCATAGATAGATAGATAGATAGATA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0212 a0001c0009t0023g0212	1	320	0.0031	-86	c.79- others(103): Show c.79-11092_79-11007delCATCTCTACCATAGATAGATAGATAGAT AGATAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATA GATAGATA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11			chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809354	GATAGATA others(79): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATCCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04199.hp2 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0033 a0001c0004 a0001c0033	a0001c0004t0006 a0001c0033t0001 a0001c0004t0006 a0001c0033t0001	a0001c0004t0006g0095 a0001c0033t0001g0097 a0001c0004t0006g0095 a0001c0033t0001g0097	2	320	0.0063	-86	c.79- others(103): Show c.79-11052_79-10967delAGATAGATAGATCCATCTCTACCATAGA TAGATAGATAGATAGATAGATCCATCTCTACCATAGATAGATAGATAGAT AGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R5C_chr14_101756709_101932977	101885435	GGGAGCAC others(79): Show GGGAGCACCCTGCCTTTCCCTCTGCAGTCATTAGGGCCCACAGCCCCGGC CTCTCCCATCCCGTGCCGGCTTGCACAGCCTGCGTCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp2 HG01884.hp1 others(13): Show HG01070.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp2 HG02055.hp1 HG02155.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 NA18963.hp2 NA18969.hp2 NA18995.hp2 NA19005.hp2 NA19068.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0002g0094 a0001c0001t0006g0075 a0001c0001t0006g0099 a0001c0001t0009g0122 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0084 a0002c0002t0001g0115 a0002c0002t0003g0129	16	138	0.1159	-86	c.794 others(103): Show c.794+1893_794+1978delTCTGCAGTCATTAGGGCCCACAGCCCCG GCCTCTCCCATCCCGTGCCGGCTTGCACAGCCTGCGTCAGGAGCACCCTG CCTTTCCC	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2121908	AGGGTCAC others(79): Show AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCGGT GGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01358.hp1 HG02004.hp2 others(15): Show HG00558.hp1 HG01358.hp1 HG02004.hp2 HG04115.hp2 NA18947.hp2 NA18970.hp1 NA18970.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19055.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(15): Show a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0202 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0272 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0002t0001g0095 a0001c0002t0001g0267 a0001c0003t0001g0059 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0084 a0001c0003t0001g0275	18	286	0.0629	-86	c.335 others(105): Show c.335-13352_335-13267delGGTCACGGCTGTAGTTAGCGTCATGG TGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTC ACGGCGGTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKN_chr6_161342417_162732766	161873978	AAATATAT others(79): Show AAATATATATGTAAAATATAATATATAAAATATATATTATATGTAAAATA TATATAAAATATATATTATATGTAAAATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	32	0.0313	-86	c.735 others(105): Show c.735-88156_735-88071delATATATTATATTTTACATATAATATA TATTTTATATATATTTTACATATAATATATATTTTATATATTATATTTTA CATATATATT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRR5L_chr11_36291288_36470204	36351572	TATATAAA others(79): Show TATATAAATATATATTTATATATTTATATAAATATATATTTATATATTTA TATATTTATATAAATATATATTTATATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	272	0.0037	-86	c.-12 others(107): Show c.-125-49419_-125-49334delAATATATATTTATATATTTATATA AATATATATTTATATATTTATATATTTATATAAATATATATTTATATATT TATATAAATATA	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSPC1_chr13_19697500_19787945	19779791	TGCCCGGC others(79): Show TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00673.hp2 others(29): Show HG00323.hp2 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp2 HG02040.hp1 HG02155.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 NA18940.hp2 NA18982.hp1 NA18987.hp2 NA18995.hp2 NA19000.hp1 NA19007.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0003 a0002c0003t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(28): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0008g0013 a0001c0001t0009g0012 a0001c0001t0010g0030 a0001c0002t0003g0032 a0002c0003t0003g0025	32	258	0.1240	-86	c.372 others(103): Show c.372+2509_372+2594delGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTP4A2_chr1_31901421_31943368	31908111	AAAATATA others(79): Show AAAATATATATATATATATATATATTATATTATATATATATATATATATA TATATATATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp1 others(100): Show HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19057.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0056 a0001c0001t0162 a0001c0001t0166 a0001c0001t0167	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(91): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0014g0049 a0001c0001t0014g0098 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0023g0025 a0001c0001t0023g0028 a0001c0001t0023g0099 a0001c0001t0024g0081 a0001c0001t0024g0106 a0001c0001t0024g0108 a0001c0001t0056g0022 a0001c0001t0162g0038 a0001c0001t0166g0056 a0001c0001t0167g0026	103	354	0.2910	-86	c.65 others(95): Show c.655_*740delATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATAATATAATATATATATATATATATATATTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	655		chr1	TogoVar
PWWP3A_chr19_1349959_1383429	1368844	TTCGGGTC others(79): Show TTCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCATCGGGT CCCCGGTGCCCACCTGCGTTCAGACCAGCCCAAGCCA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp1 HG02257.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0242 a0001c0001t0006g0253 a0001c0001t0006g0242 a0001c0001t0006g0253	2	412	0.0049	-86	c.142 others(103): Show c.1423-390_1423-305delCCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGACCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP3A_chr19_1349959_1383429	1368875	CCAGCCCA others(79): Show CCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGACCAGCCC AAGCCATCGGGTCCCCGGTGCCCACCTGCGTTCAGAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	412	0.0024	-86	c.142 others(103): Show c.1423-347_1423-262delCCAGCCCAAGCCATCGGGTCCCCGGTGC CCACCTGCGTTCAGATCAGCCCAAGCCATCGGGTCCCCGGTGCCCACCTG CGTTCAGA	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDNL_chr8_51314577_51814445	51347686	TCATGCCT others(79): Show TCATGCCTCGGCCTCCCAAAGTGCTGAGATTACTGTCATGAGCCACCGCG CCCGACCTATTGCTACTTTTATAACGGTGAAGTCAAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02896.hp2 others(1): Show HG02109.hp1 HG02886.hp2 HG02896.hp2 HG03098.hp2	a0009 a0015 a0027 a0009 a0015 a0027	a0009c0008 a0015c0026 a0027c0023 a0009c0008 a0015c0026 a0027c0023	a0009c0008t0001 a0009c0008t0003 a0015c0026t0001 others(1): Show a0009c0008t0001 a0009c0008t0003 a0015c0026t0001 a0027c0023t0003	a0009c0008t0001g0064 a0009c0008t0003g0007 a0015c0026t0001g0027 others(1): Show a0009c0008t0001g0064 a0009c0008t0003g0007 a0015c0026t0001g0027 a0027c0023t0003g0004	4	122	0.0328	-86	c.390 others(105): Show c.3902-1825_3902-1740delCTTGACTTCACCGTTATAAAAGTAGC AATAGGTCGGGCGCGGTGGCTCATGACAGTAATCTCAGCACTTTGGGAGG CCGAGGCATG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	19/22			chr8	TogoVar
PXYLP1_chr3_141226825_141299924	141248602	TATACACA others(79): Show TATACACACGTATATATACACACACGTATATATACACACGTGTATATATA CACACGTATATATACACACACGTGTATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(74): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG01167.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18947.hp2 NA18957.hp2 NA18959.hp2 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18978.hp2 NA18981.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0002c0005 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002 a0001c0014t0002 a0002c0005t0001 a0006c0010t0002	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(68): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0338 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0130 a0001c0001t0002g0319 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0097 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0197 a0001c0001t0003g0237 a0001c0001t0003g0244 a0001c0001t0003g0324 a0001c0001t0004g0093 a0001c0001t0005g0246 a0001c0001t0006g0070 a0001c0001t0006g0271 a0001c0001t0007g0069 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0007g0089 a0001c0001t0014g0006 a0001c0001t0016g0131 a0001c0002t0002g0015 a0001c0002t0002g0044 a0001c0002t0002g0079 a0001c0002t0002g0092 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0348 a0001c0014t0002g0270 a0002c0005t0001g0008 a0006c0010t0002g0128	77	384	0.2005	-86	c.-53 others(105): Show c.-53-11520_-53-11435delATACACACGTATATATACACACACGT ATATATACACACGTGTATATATACACACGTATATATACACACACGTGTAT ATATACACAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5			chr3	TogoVar
RAB3IL1_chr11_61892301_61922566	61913461	GCAGATCA others(79): Show GCAGATCAGAACACCTAAAGCAGGTGAGTCAGGCCACGCCTCCGCCGGCC ATAGCCCCAGGCCACCAGGCCAGTCCAGCCCACCCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	392	0.0026	-86	c.11+ others(101): Show c.11+3810_11+3895delAGGGGTGGGCTGGACTGGCCTGGTGGCCTG GGGCTATGGCCGGCGGAGGCGTGGCCTGACTCACCTGCTTTAGGTGTTCT GATCTG	RAB3IL1	ENSG00000167994.13	transcript	ENST00000394836.7	protein_coding	1/9			chr11	TogoVar
RAB40B_chr17_82649973_82703698	82691993	AGCAGAGC others(79): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAG CAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01192.hp2 others(10): Show HG00323.hp2 HG00642.hp2 HG01192.hp2 HG01943.hp1 HG02083.hp2 HG02109.hp1 HG02698.hp1 HG02922.hp2 HG03239.hp1 HG03704.hp2 NA18972.hp2 NA18994.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0006 a0001c0001 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0040 a0002c0003t0004 a0004c0006t0004	a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 others(10): Show a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0002g0285 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0004g0047 a0001c0001t0012g0215 a0001c0001t0012g0256 a0001c0001t0040g0311 a0002c0003t0004g0214 a0004c0006t0004g0048	13	338	0.0385	-86	c.142 others(103): Show c.142+6376_142+6461delCTGTCACCTCAGCCCACGGACCGTGCGG GCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCAC TGCTCTGC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAPGEF2_chr4_159098079_159365173	159159346	GAGAAAAT others(79): Show GAGAAAATTCTTTTATTTTGATTTAAGTACATATAGTGGGATCAACCTAT AGATGTTTTCAAGAAAACTGAGTGTAGTGTTGTTCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(82): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18961.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0029 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022 a0001c0003t0004 a0001c0003t0017 a0001c0004t0001 a0001c0005t0005 a0001c0006t0014 a0001c0010t0002 a0002c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 others(82): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0005g0012 a0001c0001t0005g0024 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0082 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0008g0033 a0001c0001t0008g0041 a0001c0001t0008g0062 a0001c0001t0008g0067 a0001c0001t0008g0070 a0001c0001t0009g0035 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0021g0028 a0001c0001t0023g0073 a0001c0001t0026g0003 a0001c0001t0029g0002 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0069 a0001c0002t0001g0075 a0001c0002t0001g0108 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0003g0008 a0001c0002t0022g0106 a0001c0003t0004g0009 a0001c0003t0004g0019 a0001c0003t0004g0045 a0001c0003t0004g0047 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0068 a0001c0003t0004g0072 a0001c0003t0004g0080 a0001c0003t0017g0117 a0001c0004t0001g0020 a0001c0005t0005g0016 a0001c0006t0014g0026 a0001c0006t0014g0036 a0001c0010t0002g0065 a0002c0009t0002g0011	85	194	0.4381	-86	c.70- others(103): Show c.70-27120_70-27035delAAATTCTTTTATTTTGATTTAAGTACAT ATAGTGGGATCAACCTATAGATGTTTTCAAGAAAACTGAGTGTAGTGTTG TTCCAAGA	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF6_chr5_131418921_131640229	131468495	ATTAAAAA others(79): Show ATTAAAAAATGAATACTTGAAGGATGTATGTACTGACCCTGAGATTACAC TAAAAATGGGAGAACTTTTAGGTATTTAAGATGATCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(120): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0002c0002 a0008c0007 others(1): Show a0001c0001 a0002c0002 a0008c0007 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0002c0002t0001 a0008c0007t0004 a0010c0017t0002	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0008 others(120): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0004g0024 a0001c0001t0004g0026 a0001c0001t0004g0038 a0001c0001t0004g0052 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0093 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0194 a0001c0001t0006g0009 a0001c0001t0006g0030 a0001c0001t0006g0035 a0001c0001t0006g0048 a0001c0001t0006g0064 a0001c0001t0006g0081 a0001c0001t0006g0272 a0001c0001t0015g0095 a0001c0001t0016g0098 a0001c0001t0016g0102 a0001c0001t0023g0039 a0001c0001t0024g0055 a0002c0002t0001g0043 a0002c0002t0001g0304 a0008c0007t0004g0092 a0010c0017t0002g0111	123	324	0.3796	-86	c.223 others(105): Show c.2239+4006_2239+4091delAGATCATCTTAAATACCTAAAAGTTC TCCCATTTTTAGTGTAATCTCAGGGTCAGTACATACATCCTTCAAGTATT CATTTTTTAA	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	17/27			chr5	TogoVar
RASSF7_chr11_555970_569025	562772	TGCAGGTG others(79): Show TGCAGGTGAGCCCGGGGACCTGATCCCCTGTCACTCCCCCACCCCTGATA TGGGCAGATACGGGGATCACAGGGTCCCACTCGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0005 a0007c0019t0005	a0007c0019t0005g0012 a0007c0019t0005g0012	1	397	0.0025	-86	c.822 others(100): Show c.822+44_822+129delTATGGGCAGATACGGGGATCACAGGGTCCCA CTCGGGAGGCAGGTGAGCCCGGGGACCTGATCCCCTGTCACTCCCCCACC CCTGA	RASSF7	ENSG00000099849.15	transcript	ENST00000397583.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RBPMS_chr8_30379541_30577256	30391015	GGCTGGAA others(79): Show GGCTGGAAAATTACTTCCATCCCTTTGTCATTAGGAACCTCCATTTGCGA GCACAGGTGAGCCTGCCTGGTCCATCAAATAGCCACT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0303 a0002c0002t0011g0303	1	304	0.0033	-86	c.66+ others(101): Show c.66+5934_66+6019delAATAGCCACTGCTGGAAAATTACTTCCATC CCTTTGTCATTAGGAACCTCCATTTGCGAGCACAGGTGAGCCTGCCTGGT CCATCA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
REV3L_chr6_111294033_111488218	111422595	CACATATA others(79): Show CACATATATATATATATACACATATATATATATATACACATATATATATA TATACATATATATATATACATATATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0108 a0002c0009t0001g0108	1	288	0.0035	-86	c.140 others(103): Show c.140-6209_140-6124delACGTATATATATATATATGTATATATAT ATATGTATATATATATATATGTGTATATATATATATATGTGTATATATAT ATATATGT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RGL3_chr19_11389060_11424314	11414333	ATATATAC others(79): Show ATATATACCTTTATATATATATACCTTTATATATACCTTTATATATATAT ATACCTTTATATATATACCTTTATATATATATACCTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	402	0.0025	-86	c.637 others(103): Show c.637+1518_637+1603delAAGGTATATATATATAAAGGTATATATA TAAAGGTATATATATATATAAAGGTATATATAAAGGTATATATATATAAA GGTATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130610123	AGTCCCTC others(79): Show AGTCCCTCCCGTTCTGGGGGAAAATGGGAAGCCTGCTCCTCCCGGTCCCT CCCGTTCTGGGGGAAAATGGGAAGTCTGCTCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0079	1	180	0.0056	-86	c.-21 others(107): Show c.-217+18113_-217+18198delCGGGAGGAGCAGACTTCCCATTTT CCCCCAGAACGGGAGGGACCGGGAGGAGCAGGCTTCCCATTTTCCCCCAG AACGGGAGGGAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	242970	ACCTTCCT others(79): Show ACCTTCCTCTATTGAATACCTTCCTCTATTGAATACCTTCCTCTATTGAA TACCTTCCTCTATTGAATACCATCCTCTATTGATTAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	133	0.0075	-86	c.613 others(103): Show c.613+4055_613+4140delGTAATCAATAGAGGATGGTATTCAATAG AGGAAGGTATTCAATAGAGGAAGGTATTCAATAGAGGAAGGTATTCAATA GAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287177	CCTCTCTC others(79): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	133	0.0075	-86	c.352 others(103): Show c.352-5409_352-5324delAGGGTGCGAGGTCTGTCGGTGGAGAGAG AGGGTGCGAGGTCTGACGGTGGAGAGAGAGGGTGCGAGGTCTGACGGTGG AGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665444	TTTCCTTT others(79): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0050 a0001c0079t0050	a0001c0079t0050g0097 a0001c0079t0050g0097	1	196	0.0051	-86	c.348 others(105): Show c.348+21637_348+21722delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTT CCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPO4_chr20_953452_1007311	959106	AGTGTGGT others(79): Show AGTGTGGTGGTGGGTGTGGGGCAGTGTGGTGGTGGGTGTGGGCGAGTGCG GTGATGGGTGTGGGCAAGTGTGGGGGTGGGTGTCAGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0270 a0001c0001t0044g0270	1	376	0.0027	-86	c.11 others(97): Show c.1165_*1250delGCTGACACCCACCCCCACACTTGCCCACACCCAT CACCGCACTCGCCCACACCCACCACCACACTGCCCCACACCCACCACCAC AC	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5	1165		chr20	TogoVar
RTN1_chr14_59590983_59875776	59749154	CTATATCT others(79): Show CTATATCTATCTATATATCTATCTATATATCTATCTATATATATCTATAT ATATATCTATATATATCTATATATCTATATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG03516.hp1 others(1): Show HG01496.hp1 HG02145.hp1 HG03516.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0156 a0006c0005t0001g0030	4	172	0.0233	-86	c.242 others(103): Show c.242-2759_242-2674delTAGATATATATAGATATATAGATATATA TAGATATATATATAGATATATATAGATAGATATATAGATAGATATATAGA TAGATATA	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN1_chr14_59590983_59875776	59749553	AGATATCT others(79): Show AGATATCTATATATAGATATATATATATAGATATTTATATATATATCTAT CTATATATATTTATATAGATATCTATATATAGATATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(1): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0005 a0003c0004t0001 a0001c0007t0005 a0003c0004t0001	a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 others(1): Show a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 a0003c0004t0001g0081	4	172	0.0233	-86	c.242 others(103): Show c.242-3158_242-3073delGATATCTATATATAGATATCTATATAAA TATATATAGATAGATATATATATAAATATCTATATATATATATCTATATA TAGATATC	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTRAF_chr14_51984546_52015694	52002814	AGGCCAAG others(79): Show AGGCCAAGCAGTGTTAAAAGGTTACTAATGCCAGGGCAGTATCTCTGAAA GACACTGTTTTCTTTTAAAGGTTCTTACTGGCTCGTT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	436	0.0023	-86	c.531 others(102): Show c.531+950_531+1035delGCCAAGCAGTGTTAAAAGGTTACTAATGC CAGGGCAGTATCTCTGAAAGACACTGTTTTCTTTTAAAGGTTCTTACTGG CTCGTTG	RTRAF	ENSG00000087302.9	transcript	ENST00000261700.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
RUBCN_chr3_197663867_197741904	197707059	TGTGGCCG others(79): Show TGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCAGGCAGATCACGAGGTCAGGAGGTCAAGACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01934.hp1 others(12): Show HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA19030.hp1 NA19043.hp2	a0002 a0015 a0002 a0015	a0002c0003 a0015c0020 a0002c0003 a0015c0020	a0002c0003t0003 a0002c0003t0045 a0002c0003t0046 others(1): Show a0002c0003t0003 a0002c0003t0045 a0002c0003t0046 a0015c0020t0003	a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 others(8): Show a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 a0002c0003t0003g0010 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0045g0016 a0002c0003t0046g0011 a0015c0020t0003g0017	15	186	0.0807	-86	c.220 others(103): Show c.220-1970_220-1885delGGTCTTGACCTCCTGACCTCGTGATCTG CCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCAC	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	2/19			chr3	TogoVar
RUNX1_chr21_34782801_35054302	34993693	GCGCACAC others(79): Show GCGCACACACACACAGACACACACAGGCACACACACACAGACACACAGAG ACACACACACAGACACACACAGGCGCACACACACAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01109.hp1 others(15): Show HG00639.hp1 HG00741.hp2 HG01109.hp1 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0027 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0102 others(15): Show a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0002g0106 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0004g0058 a0001c0001t0010g0001 a0001c0001t0027g0109 a0001c0002t0003g0093 a0001c0002t0003g0160 a0001c0002t0007g0167 a0001c0003t0001g0128 a0001c0003t0001g0162	18	170	0.1059	-86	c.58+ others(103): Show c.58+55063_58+55148delTCTGTGTGTGTGCGCCTGTGTGTGTCTG TGTGTGTGTCTCTGTGTGTCTGTGTGTGTGTGCCTGTGTGTGTCTGTGTG TGTGTGCG	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAFB_chr19_5618083_5673478	5650009	CATGTATG others(79): Show CATGTATGGCCTGGGCAGTGGCGGGTATTTGATTCTGGTTCATCGCGTGC TATGCTCCTTACCCAGGAGACTCCTGAGACGTTTGTG	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0113 a0005c0008t0001g0113	1	282	0.0036	-86	c.119 others(102): Show c.1198+35_1198+120delATGTATGGCCTGGGCAGTGGCGGGTATTT GATTCTGGTTCATCGCGTGCTATGCTCCTTACCCAGGAGACTCCTGAGAC GTTTGTG	SAFB	ENSG00000160633.13	transcript	ENST00000588852.2	protein_coding	8/20			chr19	TogoVar
SAP130_chr2_127936222_128033059	127965834	ATTTAATA others(79): Show ATTTAATATTATCTATTTCCCCTTATTATTATTTCGATTTATTATTATAT CCTATTTATTTGTTGTCTGCTAGAACTGATGAGGCCT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	350	0.0029	-86	c.206 others(107): Show c.2064-10576_2064-10491delAGGCCTCATCAGTTCTAGCAGACA ACAAATAAATAGGATATAATAATAAATCGAAATAATAATAAGGGGAAATA GATAATATTAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	15/20			chr2	TogoVar
SARDH_chr9_133658560_133743352	133668402	TTCACCCT others(79): Show TTCACCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTTACCCTCCC TCTCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0118 a0002c0014t0001g0118	1	262	0.0038	-86	c.249 others(105): Show c.2496-1618_2496-1533delGAGAGGGAGGGCGAGGGGAGAGGGAG GGCGAGGGAGAGGGAGGGTAAGGGAGAGGGAGGGTGAAGGGAGAGGGAGA GGGAGGGTGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C2_chr17_132569_144067	136264	ACCTAACC others(79): Show ACCTAACCCTAACCCTAACCCCTAACCCCTAACCAACCCTAACCCTAACC CTAACCCTAACCCCTAACCCCTAACCCTAACCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0015 a0004c0004t0001g0015	2	402	0.0050	-86	c.-13 others(97): Show c.-1326_-1241delCCTAACCCTAACCCTAACCCCTAACCCCTAACCA ACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTA AC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1304		chr17	TogoVar
SCGB1C2_chr17_132569_144067	140897	CTGGTGAG others(79): Show CTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGAC ATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0009 a0003c0003t0001g0009	1	402	0.0025	-86	c.19 others(97): Show c.1956_*2041delTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGG ACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGAC CT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1831		chr17	TogoVar
SDK1_chr7_3296252_4274000	4194354	GTATGCAC others(79): Show GTATGCACGTATGTGTATACATGTATGTGTATACATGTATACATATATGT ATGCACATATGTGTATACATGTATACGTATATACATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0050 a0001c0040t0050	a0001c0040t0050g0022 a0001c0040t0050g0022	1	116	0.0086	-86	c.509 others(107): Show c.5099-11520_5099-11435delCACGTATGTGTATACATGTATGTG TATACATGTATACATATATGTATGCACATATGTGTATACATGTATACGTA TATACATATATG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4257861	TGATTGGC others(79): Show TGATTGGCTGAGCTGAAGCCACATGCCCAGCTATTAGCCAATCACGGTTT TCTGAGAGGCAAGCTAGCCTATCCATGTGGTGGGGAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp2 NA18906.hp1 HG02451.hp1 HG03098.hp2 NA18906.hp1	a0002 a0018 a0034 a0002 a0018 a0034	a0002c0044 a0018c0024 a0034c0076 a0002c0044 a0018c0024 a0034c0076	a0002c0044t0035 a0018c0024t0061 a0034c0076t0008 a0002c0044t0035 a0018c0024t0061 a0034c0076t0008	a0002c0044t0035g0079 a0018c0024t0061g0013 a0034c0076t0008g0016 a0002c0044t0035g0079 a0018c0024t0061g0013 a0034c0076t0008g0016	3	116	0.0259	-86	c.638 others(105): Show c.6382-7260_6382-7175delTTGGCTGAGCTGAAGCCACATGCCCA GCTATTAGCCAATCACGGTTTTCTGAGAGGCAAGCTAGCCTATCCATGTG GTGGGGAAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN8_chr5_132745819_132782239	132770063	GTATATAT others(79): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTAT ATATATATATATGTATATATGTGTATGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(139): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0001c0010 others(1): Show a0001c0001 a0001c0007 a0001c0010 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0007t0001 a0001c0010t0004 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(104): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0145 a0001c0001t0005g0035 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0008g0059 a0001c0007t0001g0105 a0001c0010t0004g0144 a0004c0008t0001g0171	142	326	0.4356	-86	c.31- others(101): Show c.31-4620_31-4535delTATACACACACATACACATATATACATATA TATATATATACATATATACATATATATATACATATATACATATATATATA TATATA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SERPINB6_chr6_2943159_2976567	2962238	GGTGCACA others(79): Show GGTGCACATGAGTTTCACTGTGTCAGGGGATTTAATTTGAAATACTGAAC TGGAGAAACCAAAGCAGGATATTCGGAGGAGAAGTCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	384	0.0026	-86	c.-10 others(103): Show c.-10-2982_-10-2897delTGACTTCTCCTCCGAATATCCTGCTTTG GTTTCTCCAGTTCAGTATTTCAAATTAAATCCCCTGACACAGTGAAACTC ATGTGCAC	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding	1/6			chr6	TogoVar
SGK1_chr6_134164256_134323112	134213546	TAAAATGT others(79): Show TAAAATGTCCTCATGAAACACCTGTGGCTTAGCATTCCAGCCTGGGTGAC AAGAGCAAAACTCTGTCTCAAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01258.hp1 HG01981.hp1 others(6): Show HG00099.hp2 HG01258.hp1 HG01981.hp1 HG02559.hp2 HG02735.hp2 HG03239.hp2 HG03471.hp2 NA18955.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0168 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0102 a0001c0001t0001g0168 a0001c0001t0001g0212 a0001c0001t0004g0232 a0001c0001t0011g0055 a0001c0002t0002g0159 a0001c0003t0001g0091 a0001c0003t0003g0013	9	250	0.0360	-86	c.286 others(103): Show c.286-6201_286-6116delTATTTATTTATTTATTTTGAGACAGAGT TTTGCTCTTGTCACCCAGGCTGGAATGCTAAGCCACAGGTGTTTCATGAG GACATTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SIMC1_chr5_176233424_176350989	176306148	TCCGGGAG others(79): Show TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03579.hp2 HG02615.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301	3	360	0.0083	-86	c.173 others(105): Show c.1735-7541_1735-7456delCGGGAGGGAGGTGGGGGCGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTAC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306275	TCCGGGAG others(79): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGTCCGGCCAGCCGCCCCAT CCGGGAGGTGAGGGGCACCTCTGCCCAGCCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03579.hp2 HG02615.hp2 HG02976.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301	3	360	0.0083	-86	c.173 others(105): Show c.1735-7414_1735-7329delCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGTCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCACCTCTGCCCAG CCGCCCCTAC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKI_chr1_2223319_2315213	2280609	TGCCCGAG others(79): Show TGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACACCCGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0023 a0001c0001t0075g0023	1	330	0.0030	-86	c.970 others(105): Show c.970-22328_970-22243delGACACCCGAGAAGACAGGCGGCGGCG GCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCT TCAGAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280807	AGATCTTC others(79): Show AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	330	0.0030	-86	c.970 others(105): Show c.970-21985_970-21900delAGGACGCCCGAGAAGACAGGCGGCGG CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280993	AGGACGCC others(79): Show AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0294 a0001c0001t0045g0294	1	330	0.0030	-86	c.970 others(105): Show c.970-21956_970-21871delCGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAG GCGGCGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281463	GAGAGAGG others(79): Show GAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAG GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02818.hp2 HG00280.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0085 a0001c0001t0009 a0001c0001t0085	a0001c0001t0009g0095 a0001c0001t0085g0263 a0001c0001t0009g0095 a0001c0001t0085g0263	2	330	0.0061	-86	c.970 others(105): Show c.970-21484_970-21399delTGGAGATCTTCAGAGAGAGGACGCCC GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA CAGGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281494	TGGAGATC others(79): Show TGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	330	0.0030	-86	c.970 others(105): Show c.970-21454_970-21369delGGACAGGCGGTGGTGGAGATCTTCAT AGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281623	CGGAGATC others(79): Show CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03453.hp1 NA18946.hp1 HG00621.hp2 HG03453.hp1 NA18946.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0025 a0006c0006t0078 a0001c0001t0001 a0001c0001t0025 a0006c0006t0078	a0001c0001t0001g0285 a0001c0001t0025g0238 a0006c0006t0078g0269 a0001c0001t0001g0285 a0001c0001t0025g0238 a0006c0006t0078g0269	3	330	0.0091	-86	c.970 others(105): Show c.970-21334_970-21249delTGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTC AGAGAGAGGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281644	TGCCCGAG others(79): Show TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0308 a0001c0001t0009g0308	1	330	0.0030	-86	c.970 others(105): Show c.970-21282_970-21197delGGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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