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
PRKCB_chr16_23830983_24225611	23981825	C C	CCCTTCCT others(196): Show CCCTTCCTTTCCCTTCCCCTTCACTTTCCTCCTTCCCCTTCCCTTCCCTT TCCTCCTTCCTTTCCCTTCCACTTCCCCTTTCCCTTCACTTCCCTTCCCT TCCCTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTTCCCTTC CCTTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCTTC CCTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0062 a0001c0003t0007g0062	1	143	0.0070	203	c.206 others(220): Show c.206-6681_206-6680insTTCCTTTCCCTTCCCCTTCACTTTCCTC CTTCCCCTTCCCTTCCCTTTCCTCCTTCCTTTCCCTTCCACTTCCCCTTT CCCTTCACTTCCCTTCCCTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCC TTCCCTTCCCTTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCTTCCCTTCC TTTCCCTTCCCTTCCCTTCCCTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKN_chr6_161342417_162732766	162010701	T T	TATATATT others(196): Show TATATATTATATATAATATTATATAATATATTATATAATATATAACATAT ATTATACAATATATTATATAATATATATTATATATAATATATTATATATT ATATAATATTAATATATATAATATATAATATAATATATTATATAATATAT AATATAATATAGTATATAATATATAATATAATATAGTATATAATATATAA TATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0013 a0006c0010t0004g0013	1	24	0.0417	203	c.619 others(222): Show c.619-37285_619-37284insTATATTATATATTATATACTATATTA TATTATATATTATATACTATATTATATTATATATTATATAATATATTATA TTATATATTATATATATTAATATTATATAATATATAATATATTATATATA ATATATATTATATAATATATTGTATAATATATGTTATATATTATATAATA TATTATATAATATTATATATAATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11			chr6	TogoVar
PRUNE2_chr9_76606376_76911114	76791278	A A	ATTATCAT others(196): Show ATTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATA CTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTATCATTGGTA CAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCACCAGTTAT CATTGGTACAATAATACTGCACCAGTTATCATTGGTACAATAATACTGCA CCAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0009 a0013c0017t0009	a0013c0017t0009g0178 a0013c0017t0009g0178	1	238	0.0042	203	c.756 others(222): Show c.756+32353_756+32354insCTGGTGCAGTATTATTGTACCAATGA TAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGTATTATTGT ACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACTGGTGCAGT ATTATTGTACCAATGATAACTGGTGCAGTATTATTGTACCAATGATAACT GGTGCAGTATTATTGTACCAATGATAA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(196): Show TGCTGGGATTATAGGCACGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTTTGAGACAG AGTCTCAATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCTCAT TGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCG AGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG03225.hp1 others(1): Show HG02723.hp1 HG02970.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0083 a0001c0001t0004g0019 a0001c0001t0003g0083 a0001c0001t0004g0019	4	241	0.0166	203	c.62 others(214): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATTGAGACTCTGTCTCAAAACAACAACAACAACAACAAA AACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGTGGC GCGTGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(196): Show TGCTGGGATTATAGGCACGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTTTGAGACGG AGTCTCAATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCTCAT TGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCG AGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(171): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0022 a0001c0002t0037 a0001c0003t0001 a0001c0003t0026 a0001c0003t0030 a0001c0005t0004 a0003c0004t0002 a0004c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(109): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0081 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0004g0017 a0001c0001t0004g0039 a0001c0001t0004g0082 a0001c0001t0004g0085 a0001c0001t0004g0120 a0001c0001t0004g0222 a0001c0001t0006g0049 a0001c0001t0006g0189 a0001c0001t0006g0234 a0001c0001t0009g0079 a0001c0001t0009g0116 a0001c0001t0009g0166 a0001c0001t0013g0219 a0001c0001t0017g0205 a0001c0001t0018g0206 a0001c0001t0025g0243 a0001c0001t0028g0188 a0001c0001t0029g0178 a0001c0001t0033g0089 a0001c0002t0002g0054 a0001c0002t0002g0262 a0001c0002t0003g0249 a0001c0002t0004g0052 a0001c0002t0004g0254 a0001c0002t0004g0261 a0001c0002t0005g0006 a0001c0002t0005g0053 a0001c0002t0005g0259 a0001c0002t0013g0246 a0001c0002t0022g0260 a0001c0002t0037g0251 a0001c0003t0001g0051 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0026g0238 a0001c0003t0030g0240 a0001c0005t0004g0056 a0003c0004t0002g0055 a0004c0007t0002g0220	174	411	0.4234	203	c.62 others(214): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATTGAGACTCCGTCTCAAAACAACAACAACAACAACAAA AACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGTGGC GCGTGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(196): Show TGCTGGGATTATAGGCACGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTTTTGTTGTTGTTGTTGTTTTGAGACGG AGTCTCAATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCTCAT TGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCG AGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	238	0.0042	203	c.62 others(214): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATTGAGACTCCGTCTCAAAACAACAACAACAACAAAAAA AACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGTGGC GCGTGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTGES_chr9_129733349_129758042	129733403	T T	TGCTGGGA others(196): Show TGCTGGGATTATAGGCTCGCGCCACCACACCTGGCTAATCGTTGTTTTTG TTGTTATTGTTGTTTGTGTTTTTGTTGTTGTTGTTGTTGTTTTGAGACGG AGTCTCGATCTGTCACCAGGCTGGGGTACAGTGGTGTGATCTTGGCTCAT TGCAACCTCCGACTCCAAGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCG AGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01168.hp2 HG01169.hp2 others(1): Show HG00639.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0001 a0001c0002t0011 a0001c0001t0011 a0001c0002t0001 a0001c0002t0011	a0001c0001t0011g0229 a0001c0002t0001g0256 a0001c0002t0011g0255 others(1): Show a0001c0001t0011g0229 a0001c0002t0001g0256 a0001c0002t0011g0255 a0001c0002t0011g0257	4	241	0.0166	203	c.62 others(214): Show c.6207_*6208insTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAA CCTTGGAGTCGGAGGTTGCAATGAGCCAAGATCACACCACTGTACCCCAG CCTGGTGACAGATCGAGACTCCGTCTCAAAACAACAACAACAACAACAAA AACACAAACAACAATAACAACAAAAACAACGATTAGCCAGGTGTGGTGGC GCGAGCCTATAATCCCAGC	PTGES	ENSG00000148344.11	transcript	ENST00000340607.5	protein_coding		4945		chr9	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(196): Show TCCTCTCCTCTCCTCTCCTCTCCACTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCCCCTCC CCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCCTCCC CTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01169.hp1 HG00280.hp1 HG01169.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0002 a0001c0001t0001 a0005c0010t0002	a0001c0001t0001g0082 a0005c0010t0002g0058 a0001c0001t0001g0082 a0005c0010t0002g0058	2	17	0.1176	203	c.191 others(224): Show c.191-103924_191-103923insCACTCCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTCCCCTCTCCTCCCCCCC CTCCCCTCCCCTCCTGTCCCCCTCCCCTCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXDN_chr2_1626887_1749515	1720298	A A	AGGGATGC others(196): Show AGGGATGCAGAGAGAGAGAGAGGGAGGGATGCAGAGAGAGAGAGGGAGGG AGGGATGCAGAGAGAGAGGGAGGGAAGAATGCAGAGAGAGAGAGAGGGAG GGAGGGATGCAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAT GCACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGGATGCAGAGAGAGAG GGAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18973.hp1 NA18947.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0002g0094 a0001c0001t0001g0093 a0001c0001t0002g0094	2	297	0.0067	203	c.200 others(222): Show c.200+23957_200+23958insCTCCCTCTCTCTCTGCATCCCTCCCT CTCTCTGCATCCCTCCCTCTCTCTGTGCATCTCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT TCTTCCCTCCCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTGCAT CCCTCCCTCTCTCTCTCTCTGCATCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(196): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTAATAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18977.hp2 HG02083.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0007 a0001c0001t0002g0020	2	223	0.0090	203	c.38- others(218): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTATTAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
PYM1_chr12_55896413_55932894	55905876	T T	TTAGATAT others(196): Show TTAGATATATATATTATTATATATATCTATTAGATATATATATTATTATA TATATCTATTAGATATATATATTATTATATATATCTAATAGATATATATA TTATTATATATATCTAATAGATATATATATTATTATATATATCTAATAGA TATATATATTATTATATATATCTAATAGATATATATATTATTATATATAT CTAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01358.hp1 others(2): Show HG01070.hp2 HG01071.hp1 HG01358.hp1 HG02129.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0007 a0001c0001t0002g0197 a0001c0001t0002g0199 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0214 a0001c0001t0005g0211	5	226	0.0221	203	c.38- others(218): Show c.38-2397_38-2396insTTAGATATATATAATAATATATATATCTAT TAGATATATATAATAATATATATATCTATTAGATATATATAATAATATAT ATATCTATTAGATATATATAATAATATATATATCTATTAGATATATATAA TAATATATATATCTAATAGATATATATAATAATATATATATCTAATAGAT ATATATAATAATATATATATCTA	PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2			chr12	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(196): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	315	0.0032	203	c.-51 others(214): Show c.-5185_-5184insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803080	G G	GGGGGCCC others(196): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	290	0.0034	203	c.-51 others(214): Show c.-5117_-5116insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4867		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(196): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19091.hp1 NA18952.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0248 a0001c0001t0004g0249	2	188	0.0106	203	c.-50 others(214): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803147	T T	TGGGGCCC others(196): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0043 a0001c0012t0001g0043	1	93	0.0108	203	c.-50 others(214): Show c.-5050_-5049insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4800		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(196): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	275	0.0036	203	c.-49 others(214): Show c.-4982_-4981insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803223	C C	TCCAGGGC others(196): Show TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	295	0.0034	203	c.-49 others(214): Show c.-4975_-4974insTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4725		chr9	TogoVar
RBFOX3_chr17_79084345_79616051	79138704	C C	CGTTCATG others(196): Show CGTTCATGCCCCCCTCACCCACACACGCACACACACAGCACATGCATTCA CACCCCCTCACCCATACATATGCACACGCACATGTTCATGCCCCCCTCAC CCACACATGCACACACAGCACATGCGTTCACACCCCCTTCACCCAGGCAC GCACACAGCACATGCGTTCACACCCTCACCCACACACGCATGCACACAGC ACGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02818.hp1 HG02145.hp2 HG02615.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0004t0006 a0001c0001t0002 a0001c0001t0006 a0001c0004t0006	a0001c0001t0002g0131 a0001c0001t0006g0099 a0001c0004t0006g0135 a0001c0001t0002g0131 a0001c0001t0006g0099 a0001c0004t0006g0135	3	151	0.0199	203	c.-33 others(222): Show c.-33-22957_-33-22956insACGTGCTGTGTGCATGCGTGTGTGGG TGAGGGTGTGAACGCATGTGCTGTGTGCGTGCCTGGGTGAAGGGGGTGTG AACGCATGTGCTGTGTGTGCATGTGTGGGTGAGGGGGGCATGAACATGTG CGTGTGCATATGTATGGGTGAGGGGGTGTGAATGCATGTGCTGTGTGTGT GCGTGTGTGGGTGAGGGGGGCATGAAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79138704	C C	CGTTCATG others(196): Show CGTTCATGCCCCCCTCACCCACACACGCACACACACAGCACATGCATTCA CACCCCCTCACCCATACATATGCACACGCACATGTTCATGCCCCCCTCAC CCACACATGCACACACAGCACATGCGTTCACACCCCCTTCACCCATGCAC GCACACAGCACATGCGTTCACACCCTCACCCACACACGCATGCACACAGC ACGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	149	0.0067	203	c.-33 others(222): Show c.-33-22957_-33-22956insACGTGCTGTGTGCATGCGTGTGTGGG TGAGGGTGTGAACGCATGTGCTGTGTGCGTGCATGGGTGAAGGGGGTGTG AACGCATGTGCTGTGTGTGCATGTGTGGGTGAGGGGGGCATGAACATGTG CGTGTGCATATGTATGGGTGAGGGGGTGTGAATGCATGTGCTGTGTGTGT GCGTGTGTGGGTGAGGGGGGCATGAAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RFLNA_chr12_124290093_124321024	124296139	T T	TTTCTTTC others(196): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTCTCTC TCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	339	0.0029	203	c.207 others(218): Show c.207+504_207+505insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RIN2_chr20_19753258_20007456	19924535	T T	TTCATACC others(196): Show TTCATACCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATACCC CACCTCCATACCCCACCTCCATACCCCACCTTCCTACCCCCACCTTCATA CCCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCCCACCT TCATACCCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACC TCAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp1 HG01361.hp2 others(23): Show HG00621.hp2 HG01261.hp1 HG01361.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02976.hp2 HG03225.hp1 HG03579.hp2 HG04184.hp2 NA18941.hp2 NA18947.hp1 NA18949.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp2 NA18992.hp1 NA19056.hp1 NA19066.hp1 NA19068.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0016 others(3): Show a0001c0001 a0001c0002 a0001c0016 a0002c0003 a0002c0004 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0001c0002t0038 a0001c0016t0003 a0002c0003t0008 a0002c0004t0014 a0002c0004t0017 a0009c0011t0033	a0001c0001t0001g0024 a0001c0001t0001g0272 a0001c0001t0002g0186 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0272 a0001c0001t0002g0186 a0001c0001t0008g0172 a0001c0001t0009g0130 a0001c0001t0013g0115 a0001c0001t0022g0178 a0001c0001t0026g0260 a0001c0001t0040g0242 a0001c0002t0001g0114 a0001c0002t0001g0118 a0001c0002t0001g0229 a0001c0002t0003g0060 a0001c0002t0003g0125 a0001c0002t0003g0228 a0001c0002t0005g0002 a0001c0002t0006g0275 a0001c0002t0010g0087 a0001c0002t0010g0269 a0001c0002t0017g0176 a0001c0002t0038g0136 a0001c0016t0003g0079 a0002c0003t0008g0128 a0002c0004t0014g0202 a0002c0004t0017g0244 a0009c0011t0033g0243	26	205	0.1268	203	c.58- others(220): Show c.58-10564_58-10563insTCATACCCTCACCTTCATACCCTCACCT CCATACCCCACCTTCATACCCCACCTCCATACCCCACCTCCATACCCCAC CTTCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATAC CCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTT CATACCCTCACCTTCATAACCTCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIN2_chr20_19753258_20007456	19924535	T T	TTCATACC others(196): Show TTCATACCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATACCC CACCTCCATACCCCACCTCCATACCCCACCTTCCTACCCCCACCTTCATA CCCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCCCACCT TCATACTCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACC TCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0211 a0001c0020t0001g0211	1	180	0.0056	203	c.58- others(220): Show c.58-10564_58-10563insTCATACCCTCACCTTCATACCCTCACCT CCATACCCCACCTTCATACCCCACCTCCATACCCCACCTCCATACCCCAC CTTCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATAC CCCACCTTCATACCCCCACCTTCATACTCTCACCTTCATACCCCCACCTT CATACCCTCACCTTCATAACCTCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505328	C C	CTCCCTCT others(196): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0026 a0003c0003t0026	a0003c0003t0026g0017 a0003c0003t0026g0017	1	387	0.0026	203	c.-69 others(212): Show c.-697_-696insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		208		chr14	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(196): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTAATATATA TTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTAAA TATATATATTTTTAATATATATATTTTTAAATATATATATATTTATATAT ATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATAT ATTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0001g0067	4	9	0.4444	203	c.182 others(220): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTAA TATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATA TTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATATTT ATATATATATTTTTATATATATATATTTATATATATATTTTTAAATATAT ATATATATTTATATATATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(196): Show ATATAATATAATATAATATATAATATATAATATATAATATAATATAATAT ATAATATATTATATAATATAATATATAATATATTATATAATATAATGTAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATTATATAATATAATATATAATA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	360	0.0028	203	c.-31 others(214): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATATATTATATTATATAATATATTATAT ATTATATTATATAATATATTATACATTATATTATATAATATATTATATAT TATATTATATAATATATTATATATTATATTATATTATATATTATATATTA TATATTATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(196): Show GGGCGGGGTGGAGTGGGGTGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCC GGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTGCGCCCGAGTCCCCGGG GGCCCGTCCCCACCGAGGAAACGGACGGCGGCCGCCCCCGACGCCGCTGC CGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCC CCGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0160 a0001c0001t0028g0160	1	88	0.0114	203	c.-36 others(218): Show c.-367+49_-367+50insGGGGTGGAGTGGGGTGGGGTGGGGTGGGGT GGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTG CGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCG CCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCC GCCGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RSRC1_chr3_158105089_158550730	158372046	T T	TTTTTTTT others(196): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGACTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCTGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03491.hp2 HG03492.hp1 others(1): Show HG01346.hp2 HG03491.hp2 HG03492.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0019g0049 others(1): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0019g0049 a0001c0001t0019g0159	4	273	0.0147	203	c.583 others(222): Show c.583+17138_583+17139insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGACTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTG	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9			chr3	TogoVar
SCGB1C1_chr11_188078_199575	196258	A A	AGGGGGAC others(196): Show AGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01081.hp1 others(8): Show HG00140.hp2 HG01070.hp2 HG01081.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02698.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	11	167	0.0659	203	c.18 others(214): Show c.1808_*1809insGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1684		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196267	T T	TTGGTGAG others(196): Show TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	347	0.0058	203	c.18 others(214): Show c.1817_*1818insTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1693		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(196): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	300	0.0033	203	c.48 others(214): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289167	C C	CCGTGTCT others(196): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0281 a0005c0017t0001g0281	1	267	0.0037	203	c.166 others(222): Show c.1663-1103_1663-1102insGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(196): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	322	0.0031	203	c.61+ others(220): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAGTTGGAGAGTATT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169751	A A	AATATATT others(196): Show AATATATTGTATATTATATAATATATTGTATATTATATATTATATAATAT ATTGTATATTATATATTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTGTATATTATATAATATATTGTA TATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	272	0.0037	203	c.-16 others(214): Show c.-1614_-1613insAATATACAATATATTATATAATATACAATATATA ATATACAATATATTATATAATATATAATATACAATATATTATATAATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATAATATACAATATATTATATAATATATAATATACAATATAT TATATAATATACAATATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1490		chr6	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATTAT others(196): Show AATATTATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATTATATTTTATTATAATATAATATAATATAATATTTTATT ATAATATAATATTATATTTTATTATAATATAATATTATATTATAATATAA TATAATATTGTATTATATTTTATTATAATATAATATATTATATTTTATTA TAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0140 a0002c0003t0003g0140	1	17	0.0588	203	c.192 others(222): Show c.192+78548_192+78549insTATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATAATATTTTATTATAATATAA TATTATATTTTATTATAATATAATATTATATTATAATATAATATAATATT GTATTATATTTTATTATAATATAATATATTATATTTTATTATAATATATT ATATTTTATTATAATATAATATAATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIGIRR_chr11_400716_419999	411066	C C	CGGCGGGG others(196): Show CGGCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGC CCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGGGGGTGCCCAGCT CTGACCATGTCTGGATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGT CTGGATGCAGTCGGGGAGGGGTGCTCAGCTCTGACCATGTCTGGATGCAG TCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	236	0.0042	203	c.-15 others(222): Show c.-153-1040_-153-1039insCCGACTGCATCCAGACATGGTCAGAG CTGAGCACCCCTCCCCGACTGCATCCAGACATGGTCAGAGCTGAGCACCC CTCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCCCCCACC GACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGACTGCATCCAGA CATGGTCAGAGCTGGGCACCCCCCGCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429065	T T	TATATATT others(196): Show TATATATTAATATATATATTATATATATGTTATATATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA TATATATATATAATATATATATTATATATATGTTACATATATATAATATA TATATTATATATATGTTATATATATATATAATATATATATTATATATATG TTAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	347	0.0029	203	c.624 others(218): Show c.624+658_624+659insGTAACATATATATAATATATATATTATATA TATATATAACATATATATAATATATATATTATATATATGTAACATATATA TAATATATATATTATATATATATATAACATATATATAATATATATATTAT ATATATGTAACATATATATAATATATATATTATATATATATATAACATAT ATATAATATATATATTAATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053402	T T	TATATATT others(196): Show TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATAATATATATTATATATTTATATATTATATATATT TATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00741.hp2 HG01891.hp1 others(13): Show HG00621.hp2 HG00741.hp2 HG01891.hp1 HG02135.hp2 HG02258.hp1 HG02735.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 NA18522.hp2 NA18941.hp2 NA18968.hp1 NA18973.hp1 NA19080.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0226 a0001c0001t0003g0066 a0001c0001t0003g0103 others(12): Show a0001c0001t0001g0226 a0001c0001t0003g0066 a0001c0001t0003g0103 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0010g0011 a0001c0001t0010g0034	16	282	0.0567	203	c.293 others(220): Show c.293+4045_293+4046insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATTATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATAAATATAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053402	T T	TATATATT others(196): Show TATATATTTATATATTATATATATTTATATATATTATATATTTATATATT ATATATATTTATATATATTATATATTTATATATTATATATATTTATATAT AATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0045 a0001c0001t0010g0045	1	267	0.0037	203	c.293 others(220): Show c.293+4045_293+4046insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATTATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATAAATATAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053402	T T	TTATATAT others(196): Show TTATATATTATATATATTTATATATAATATATATTATATATTTATATATT ATATATATTTATATATATTATATATTTATATATTATATATATTTATATAT AATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG00733.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	2	268	0.0075	203	c.293 others(220): Show c.293+4045_293+4046insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATTATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT TATATATAAATATATATAATATATA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC37A3_chr7_140328752_140403530	140387743	T T	TTATATAA others(196): Show TTATATAAATATATATTATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA TATATAAATATATTATATATATTATATATAAATATAAATATATTATATAT ATTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19004.hp2 NA19010.hp2 NA18966.hp2 NA19004.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0003 a0001c0001t0001g0041	3	288	0.0104	203	c.-70 others(220): Show c.-70-5148_-70-5147insTAATATATATAATATATTTATATTTATA TATAATATATATAATATATTTATATATTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATAATATATATTTATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(196): Show AAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	132	0.0076	203	c.-70 others(220): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(196): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTC TTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	358	0.0028	203	c.152 others(220): Show c.152-2710_152-2709insGAAAGAAAGAAAGAGAGAAAGAGAGAAA GAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558351	G G	GGGGGAGA others(196): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTG AGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAG TGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGA GTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0037 a0001c0001t0013g0037	1	318	0.0031	203	c.-11 others(222): Show c.-114-4492_-114-4491insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCATTCAGATTCAC TCCCCCTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTC ATTCAGATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTC ACTCCCCCTCACTCACATTCTCTCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A8_chr20_49807828_49897242	49834339	A A	ATATATAC others(196): Show ATATATACAGGATATATATATACACAGTATATATATATACAGTATATATA TATACACAGTATATATATATACAGTATATATATATACACAGTATATATAT ATATATACACACTGTATATATAGTGTGTGTATATACATATACTGTGTGTA TATATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTGTG TGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0329 a0001c0002t0001g0329	1	353	0.0028	203	c.290 others(220): Show c.290-5196_290-5195insCAGGATATATATATACACAGTATATATA TATACAGTATATATATATACACAGTATATATATATACAGTATATATATAT ACACAGTATATATATATATATACACACTGTATATATAGTGTGTGTATATA CATATACTGTGTGTATATATAGTGCATATAGTGCGTATATACAGTGTGTG TATATACATAGTGTGTGTGTATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLCO3A1_chr15_91848708_92170903	92047314	C C	CAAATATA others(196): Show CAAATATATAATATATAAATATATATAATATATAAATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATATATAAATAAATA TATAAATATATATAATATATAAATATATATAATATATAAATATATATAAA TATATATAATATATAAATATATATATATAATATATAAATATATATATAAT ATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp2 HG01884.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0010 a0002c0005t0049 a0001c0001t0010 a0002c0005t0049	a0001c0001t0010g0019 a0002c0005t0049g0161 a0001c0001t0010g0019 a0002c0005t0049g0161	2	93	0.0215	203	c.647 others(222): Show c.647-47558_647-47557insATATATAAATATATATAATATATAAA TATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATAAATATATAAATATATATAATATATAAATATATATAATATA TAAATATATATAAATATATATAATATATAAATATATATATATAATATATA AATATATATATAATATATAAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ATTTTATA others(196): Show ATTTTATATTATAATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0308 a0002c0002t0002g0308	1	216	0.0046	203	c.17 others(222): Show c.174+9901_*174+9902insATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATTATAATATAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1093921	G G	GAAGGCCT others(196): Show GAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCG GCTTCCTGGACTGCAGGCGAAGGCCTTATAGGGTGTCCTCATATGGTAGA GTTACTGGCAAGGGCTGGCTTCCTGGACTGCAGGCGAAGGCCTTATAGGT GTGTCCTCATATGGTAGAGTTACTGGCAAGGGCCAGCTTCCTGGCCTGCA GGCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0001 a0002c0033t0001	a0002c0033t0001g0126 a0002c0033t0001g0126	1	188	0.0053	203	c.211 others(220): Show c.211-4228_211-4227insCGGCTTCCTGGACTGCAGGCGAAGGCCT TATAGGGTGTCCTCATATGGTAGAGTTACTGGCAAGGGCTGGCTTCCTGG ACTGCAGGCGAAGGCCTTATAGGTGTGTCCTCATATGGTAGAGTTACTGG CAAGGGCCAGCTTCCTGGCCTGCAGGCAAAGGCCTTATAGGTGTGTCCTC ATATGGTAGAGTTACTGGCAAGGGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX12_chrX_71054247_71073334	71071574	A A	ATATATAT others(196): Show ATATATATAATATATAATATTTATATATTATATATATAAATATATAATAT TTATATATTATATATATAAATATATAATATTTATATATTATATATATAAA TATATAATATTTATATATTATATATAAATATATAATATTTATATATTATA TATATAAATATATAATATTTATATATATTATATATATATAATATTTATAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	230	0.0043	203	c.-32 others(214): Show c.-3269_-3268insATATATATAAATATTATATATATATAATATATAT AAATATTATATATTTATATATATAATATATAAATATTATATATTTATATA TAATATATAAATATTATATATTTATATATATAATATATAAATATTATATA TTTATATATATAATATATAAATATTATATATTTATATATATAATATATAA ATATTATATATTATATATA	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3241		chrX	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(196): Show CATATAATATATAATATATATCATATACACATATATAATATATATCATAT ACACATATAATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	59	0.0169	203	c.627 others(222): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATAATATATATCATATACACATATAATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(196): Show CATATAATATATAATATATATCATATACACATATATGATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	59	0.0169	203	c.627 others(222): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATGATATATATCATATACACATATGATATATGATATATATCATATACA CATATGATATATGATATATATCATATACACATATGATATATGATATATAT CATATACACATATGATATATGATATATATCATATACACATATGATATATG ATATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar

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