Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBFOX1_chr16_6014024_7718340	7683010	G G	GTATATAT others(87): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	68	0.0147	94	c.995 others(111): Show c.995+6180_995+6181insCACACACACATATATACGTATATATATG TGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTGTG TGTATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(87): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATACGTATATATGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01071.hp2 others(6): Show HG00099.hp1 HG01069.hp2 HG01071.hp2 HG01169.hp2 HG02258.hp2 HG03710.hp1 HG06807.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0007t0004	a0001c0001t0001g0099 a0001c0001t0001g0146 a0001c0001t0001g0207 others(6): Show a0001c0001t0001g0099 a0001c0001t0001g0146 a0001c0001t0001g0207 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0004g0024 a0001c0001t0005g0010 a0001c0001t0010g0141 a0001c0007t0004g0035	9	234	0.0385	94	c.105 others(113): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATACGTATATATGTGTGTG TATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(87): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	234	0.0043	94	c.105 others(113): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTG TGTGTATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(87): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18946.hp2 NA18953.hp2 others(3): Show HG02129.hp1 NA18946.hp2 NA18953.hp2 NA18959.hp1 NA18999.hp2 NA19010.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0003 a0005c0004 a0001c0001 a0004c0003 a0005c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0004c0003t0001 a0005c0004t0001	a0001c0001t0001g0078 a0001c0001t0001g0148 a0001c0001t0006g0157 others(3): Show a0001c0001t0001g0078 a0001c0001t0001g0148 a0001c0001t0006g0157 a0001c0001t0012g0102 a0004c0003t0001g0179 a0005c0004t0001g0144	6	234	0.0256	94	c.105 others(113): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM33_chr7_155639661_155786480	155673584	A A	ATATATAT others(87): Show ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0284 a0001c0003t0088g0284	1	306	0.0033	94	c.171 others(109): Show c.171+677_171+678insCACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(87): Show TATATATATGATATATATATGATATATATATATGATATATATATATGATA TATATATATGATATATATATGATATATATATGATATATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0301 a0002c0006t0001g0301	1	320	0.0031	94	c.-21 others(113): Show c.-218-2600_-218-2599insGATATATATATATCATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487498	A A	AATATATA others(87): Show AATATATATATTCATAATATATATATTCATAATATATATATTCATAATAT ATATATTCATAATATATATATATTCATAATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00621.hp2 others(34): Show HG00408.hp1 HG00544.hp1 HG00621.hp2 HG00673.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02155.hp2 HG03490.hp1 HG03492.hp2 HG04184.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18961.hp1 NA18966.hp1 NA18984.hp1 NA18985.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19010.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0021 a0001c0001t0003 a0001c0001t0008 a0001c0001t0021	a0001c0001t0003g0015 a0001c0001t0003g0029 a0001c0001t0003g0030 others(30): Show a0001c0001t0003g0015 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0003g0117 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0008g0053 a0001c0001t0008g0063 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0091 a0001c0001t0008g0093 a0001c0001t0021g0092	37	406	0.0911	94	c.657 others(111): Show c.657+3082_657+3083insATTATGAATATATATATTATGAATATAT ATATATTATGAATATATATATTATGAATATATATATTATGAATATATATA TTATGAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCN3_chr19_49523003_49548633	49525647	G G	GGACAGAG others(87): Show GGACAGAGACCCAGAGAGGGGGGACAGAGATCAGAGAGAGGTGGAGACAG AAACCCAGAGATGGGAGAACAGAGGTGCAGAGAGAGGGGGACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0090 a0001c0001t0001g0012 a0001c0001t0001g0090	3	380	0.0079	94	c.-24 others(105): Show c.-2418_-2417insGACAGAGACCCAGAGAGGGGGGACAGAGATCAGA GAGAGGTGGAGACAGAAACCCAGAGATGGGAGAACAGAGGTGCAGAGAGA GGGGGACGGA	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		2355		chr19	TogoVar
RELN_chr7_103466789_103994658	103909616	C C	CAATATAT others(87): Show CAATATATATTAAATATATTTAATAAATATATATATTTAATATATATAAA TATATATTAAATATATTTAATAAATATATATATTTAATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0069 a0001c0019t0001g0069	1	184	0.0054	94	c.337 others(111): Show c.337+7365_337+7458dupTATATATATTAAATATATATATTTATTA AATATATTTAATATATATTTATATATATTAAATATATATATTTATTAAAT ATATTTAATATATATT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RICTOR_chr5_38932920_39079399	38990704	G G	GATATATA others(87): Show GATATATATATCTGATATATATCATATCTGATATATATCATATATATGAT ATATCAGATATATATCAGATATGATATATATCATATATATCATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18987.hp2 NA19054.hp2 others(1): Show NA18949.hp2 NA18987.hp2 NA19054.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0119 a0001c0001t0008g0140 others(1): Show a0001c0001t0008g0105 a0001c0001t0008g0119 a0001c0001t0008g0140 a0001c0001t0008g0173	4	338	0.0118	94	c.583 others(109): Show c.583+244_583+245insATATGATATATATGATATATATCATATCTG ATATATATCTGATATATCATATATATGATATATATCAGATATGATATATA TCAGATATATATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(87): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0172 a0002c0009t0001g0172	1	180	0.0056	94	c.-35 others(115): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGATGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCT GAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641292	C C	CATGGTGA others(87): Show CATGGTGACTGCCGGACACTCAGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp2 HG01261.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0103 a0001c0021t0001g0014 a0001c0001t0001g0103 a0001c0021t0001g0014	2	180	0.0111	94	c.-35 others(115): Show c.-351-12837_-351-12836insCCTAAATCCAGCCCGTGAAGCCGG GCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCT GAGTGTCCGGCAGTCACCAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641321	A A	ATCACGGG others(87): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0067 a0001c0045t0001g0067	1	180	0.0056	94	c.-35 others(115): Show c.-351-12866_-351-12865insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641372	C C	CGGGCTGG others(87): Show CGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGG GCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01891.hp1 HG02129.hp1 others(17): Show HG00544.hp2 HG01891.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG03834.hp2 NA18950.hp1 NA18964.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA19011.hp1 NA19030.hp2 NA19064.hp1 NA19079.hp2 NA19081.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0017 a0020	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0002c0009 a0004c0031 a0007c0018 a0017c0052 a0020c0043	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0002c0009t0001 a0004c0031t0002 a0007c0018t0001 a0017c0052t0003 a0020c0043t0001	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0008 a0001c0001t0002g0037 a0001c0002t0002g0007 a0001c0002t0002g0034 a0001c0003t0001g0154 a0001c0004t0001g0041 a0001c0004t0001g0112 a0001c0006t0001g0081 a0001c0007t0001g0024 a0001c0007t0001g0138 a0001c0011t0001g0109 a0002c0009t0001g0131 a0004c0031t0002g0137 a0007c0018t0001g0052 a0017c0052t0003g0093 a0020c0043t0001g0120	20	180	0.1111	94	c.-35 others(115): Show c.-351-12917_-351-12916insATGATGCCGGGCCGAGTGTCCGGC AGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGT CACCATCCTAAATCCAGCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641372	C C	CGGGCTGG others(87): Show CGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTCACGG GCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0129 a0001c0005t0001g0129	1	180	0.0056	94	c.-35 others(115): Show c.-351-12917_-351-12916insATGATGCCGGGCCGAGTGTCCGGC AGTCACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGT CACCATCCTAAATCCAGCCC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641509	A A	ATCACGGG others(87): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01255.hp1 others(10): Show HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG04228.hp2 HG06807.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0009 a0001c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0103 a0001c0001t0001g0158 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0103 a0001c0001t0001g0158 a0001c0002t0001g0021 a0001c0002t0001g0074 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0142 a0001c0003t0001g0148 a0001c0005t0001g0032 a0001c0005t0009g0157 a0001c0006t0001g0033 a0001c0006t0001g0042	13	180	0.0722	94	c.-35 others(115): Show c.-351-13054_-351-13053insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130641509	A A	ATCACGGG others(87): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCTTC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	180	0.0056	94	c.-35 others(115): Show c.-351-13054_-351-13053insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(87): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	280	0.0036	94	c.3+2 others(109): Show c.3+24935_3+24936insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF126_chr19_642526_668214	667353	C C	CGGACCAC others(87): Show CGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGTGG ACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	434	0.0023	94	c.-42 others(105): Show c.-4233_-4232insACCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCC TGGGACGTGGTCCACCTGGGCTTGGTCCGCCTGGGACGTGGTCCGCCTGG GACGTGGTCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4140		chr19	TogoVar
RNF148_chr7_122696668_122707922	122705957	T T	TAATATAT others(87): Show TAATATATAATATATTATATAATATAATATATAATATATTATATAATATA ATATATAACATATTATATAATATATAATATATAATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00735.hp2 others(31): Show HG00544.hp2 HG00609.hp1 HG00735.hp2 HG01074.hp2 HG01192.hp2 HG01496.hp2 HG01952.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02922.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18962.hp1 NA18966.hp2 NA18970.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA19009.hp1 NA19012.hp2 NA19043.hp2 NA19063.hp1 NA19066.hp2 NA19075.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	34	432	0.0787	94	c.-32 others(105): Show c.-3208_-3207insTATATATTATATTATATATTATATATTATATAAT ATGTTATATATTATATTATATAATATATTATATATTATATTATATAATAT ATTATATATT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3036		chr7	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATATAG others(87): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03098.hp2 HG02897.hp2 HG03098.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0006 a0003c0007t0001g0022 a0003c0007t0001g0006 a0003c0007t0001g0022	2	426	0.0047	94	c.22 others(105): Show c.2256_*2257insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882090	A A	ATAGATAC others(87): Show ATAGATACATCTATATAGATACATCTATATAGATACATCTATATAGATAC ATCTATATAGATACATCTATATAGATACATCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	426	0.0024	94	c.23 others(105): Show c.2364_*2365insTAGATACATCTATATAGATACATCTATATAGATA CATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTATA TAGATACATC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2170		chr13	TogoVar
RNF213_chr17_80255852_80403794	80274719	G G	GGGGGTGA others(87): Show GGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGTGGGGTGAGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp2 NA19043.hp1 HG02895.hp2 HG03041.hp2 NA19043.hp1	a0005 a0013 a0099 a0005 a0013 a0099	a0005c0106 a0013c0020 a0099c0115 a0005c0106 a0013c0020 a0099c0115	a0005c0106t0021 a0013c0020t0014 a0099c0115t0066 a0005c0106t0021 a0013c0020t0014 a0099c0115t0066	a0005c0106t0021g0270 a0013c0020t0014g0257 a0099c0115t0066g0258 a0005c0106t0021g0270 a0013c0020t0014g0257 a0099c0115t0066g0258	3	292	0.0103	94	c.261 others(111): Show c.261+1330_261+1331insAGTGGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGGTGAGTGTGTGGGGTGAG TGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RORA_chr15_60483284_61234302	60542561	A A	ACACACAG others(87): Show ACACACAGCACGCATGCACACCTCACACACACGGCACACATGCACACCTC ACACACGGCACGCATGCACACCTCACACGGCACGCATGCACACCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02897.hp1 others(4): Show HG02258.hp1 HG02451.hp2 HG02897.hp1 HG02976.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 others(4): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0054 a0001c0002t0021 a0001c0002t0055 a0001c0003t0027 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 others(4): Show a0001c0001t0008g0033 a0001c0001t0022g0117 a0001c0001t0054g0093 a0001c0002t0021g0018 a0001c0002t0055g0106 a0001c0003t0027g0039 a0001c0004t0008g0071	7	118	0.0593	94	c.197 others(113): Show c.197-10711_197-10710insAGGTGTGCATGCGTGCCGTGTGAGGT GTGCATGCGTGCCGTGTGTGAGGTGTGCATGTGTGCCGTGTGTGTGAGGT GTGCATGCGTGCTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPL5_chr1_92827040_92846924	92846848	T T	TATATATA others(87): Show TATATATATATATATATATATATATATGTGTGTATATATATATATATATA CACACACACGTATATATATATATACACACACGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG01261.hp1 others(2): Show HG00733.hp2 HG01081.hp2 HG01261.hp1 HG01943.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068	5	331	0.0151	94	c.49 others(105): Show c.4983_*4984insATATATATATATATATATATATATATGTGTGTAT ATATATATATATATACACACACACGTATATATATATATACACACACGTAT ATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4925		chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(87): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	366	0.0027	94	c.-15 others(105): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(87): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02074.hp1 HG03654.hp2 others(4): Show HG02040.hp1 HG02074.hp1 HG03654.hp2 NA18954.hp1 NA18975.hp1 NA18980.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0042 others(3): Show a0001c0001t0015 a0001c0001t0026 a0001c0001t0042 a0001c0001t0045 a0001c0001t0051 a0001c0001t0130	a0001c0001t0015g0046 a0001c0001t0026g0045 a0001c0001t0026g0055 others(4): Show a0001c0001t0015g0046 a0001c0001t0026g0045 a0001c0001t0026g0055 a0001c0001t0042g0059 a0001c0001t0045g0043 a0001c0001t0051g0044 a0001c0001t0130g0049	7	366	0.0191	94	c.-15 others(105): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(87): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	1	366	0.0027	94	c.-15 others(105): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761902	T T	TTCTTTCT others(87): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0067 a0001c0001t0125g0067	1	366	0.0027	94	c.-15 others(105): Show c.-1535_-1534insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC TCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1101		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761910	T T	TTCTTTCT others(87): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	1	366	0.0027	94	c.-15 others(105): Show c.-1527_-1526insTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTTCTTTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1093		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(87): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA19074.hp2 NA18969.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0156 a0002c0002t0010g0204 a0002c0002t0003g0156 a0002c0002t0010g0204	2	366	0.0055	94	c.-15 others(105): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(87): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA19056.hp1 NA18964.hp2 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0010 a0002c0002t0009 a0002c0002t0010	a0002c0002t0009g0141 a0002c0002t0010g0133 a0002c0002t0009g0141 a0002c0002t0010g0133	2	366	0.0055	94	c.-15 others(105): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665482	C C	CCTTTCCT others(87): Show CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0088 a0001c0071t0088	a0001c0071t0088g0035 a0001c0071t0088g0035	1	196	0.0051	94	c.348 others(113): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTT TCCTTTCCTTTCCTTTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTL4_chrX_112078016_112462514	112419611	G G	GTGTATAT others(87): Show GTGTATATATATATATATATTTACATATGTATATGTATATATATATTTAC ATATGTATATGTAAATATATATATATATTTACATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0082 a0002c0001t0001g0082	1	134	0.0075	94	c.-28 others(115): Show c.-284-11502_-284-11501insGTATATATATATATATATTTACAT ATGTATATGTATATATATATTTACATATGTATATGTAAATATATATATAT ATTTACATATGTATATGTAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112419611	G G	GTGTGTAT others(87): Show GTGTGTATATATATATATTTACATATGTATATGTATATATATATTTACAT ATGTATATGTAAATATATATATATATTTACATATGTATATGTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0105 a0002c0001t0001g0105	1	134	0.0075	94	c.-28 others(115): Show c.-284-11502_-284-11501insGTGTATATATATATATTTACATAT GTATATGTATATATATATTTACATATGTATATGTAAATATATATATATAT TTACATATGTATATGTATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RUNDC3B_chr7_87623398_87837296	87626335	C C	CATATATG others(87): Show CATATATGTGTCATATATGTGTCATATATATCTGTCATATATGTGTCATA TATATGTGTCATATATGTGTCATATATGTGTCATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	202	0.0050	94	c.-24 others(105): Show c.-2489_-2488insATATATGTGTCATATATGTGTCATATATATCTGT CATATATGTGTCATATATATGTGTCATATATGTGTCATATATGTGTCATA TATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2062		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626646	G G	GTCATATA others(87): Show GTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATATGT CATATATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	1	202	0.0050	94	c.-21 others(105): Show c.-2178_-2177insTCATATATATGTGTCATATATATGTCATATATAT GTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATATGT GTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1751		chr7	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(87): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	386	0.0026	94	c.241 others(111): Show c.241+1042_241+1043insAAGAAAGAAGAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759375	G G	GAGAAAGA others(87): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0105 a0003c0005t0002g0105	1	386	0.0026	94	c.241 others(111): Show c.241+1042_241+1043insAAGAAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
SAA2_chr11_18240240_18253668	18251859	G G	GGAATTTT others(87): Show GGAATTTTTATCTCGGGCGGGGGCTGGCCCGCCATCGGGCCGCTTCCGCC CCACCGTGTCCAAATCCGCCATGCTGATCAAGCTTTCCCACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	474	0.0021	94	c.-32 others(105): Show c.-3262_-3261insGCCAGTGGGAAAGCTTGATCAGCATGGCGGATTT GGACACGGTGGGGCGGAAGCGGCCCGATGGCGGGCCAGCCCCCGCCCGAG ATAAAAATTC	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3192		chr11	TogoVar
SATL1_chrX_85087284_85248779	85088169	C C	CATATATG others(87): Show CATATATGTATAAATACATACATATTTATACATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	232	0.0043	94	c.42 others(105): Show c.4221_*4222insATGTATAAATATGTATGTATTTATACATATATAT GTATAAATATGTATGTATTTATACATATATGTATAAATATGTATGTATTT ATACATATAT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4114		chrX	TogoVar
SCAMP1_chr5_78355617_78485739	78448103	T T	TCTCCCCC others(87): Show TCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCTCCTC TCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG02965.hp2 others(5): Show HG00741.hp2 HG02622.hp2 HG02965.hp2 HG03209.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0003 a0001c0001t0006g0130 a0001c0001t0006g0131 others(5): Show a0001c0001t0006g0003 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0010g0062	8	332	0.0241	94	c.633 others(111): Show c.633-1829_633-1828insTCCCCCTCCCCCTTCCCCTCTTCCACTC CTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTC CCCTTTCCTCCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CTTCTTTC others(87): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	332	0.0030	94	c.852 others(111): Show c.852+1458_852+1459insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCARF1_chr17_1628858_1650732	1638608	T T	TGGGCGAC others(87): Show TGGGCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGG GCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01975.hp2 HG02602.hp2 others(13): Show HG01358.hp2 HG01975.hp2 HG02602.hp2 HG03017.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 NA18941.hp1 NA18966.hp2 NA18967.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19077.hp1 NA19087.hp2 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0006c0015 a0001c0001 a0006c0013 a0006c0015	a0001c0001t0001 a0006c0013t0002 a0006c0015t0002 a0001c0001t0001 a0006c0013t0002 a0006c0015t0002	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0186 a0006c0013t0002g0030 a0006c0013t0002g0230 a0006c0015t0002g0231	16	401	0.0399	94	c.136 others(111): Show c.1364+197_1364+198insCCGTGGGTCAGAGGTGATGGGGGTGGGG AGGGCTGGCCTTGTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGG GCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1638655	G G	GGGGCGAC others(87): Show GGGGCGACAAGGCCAGCCCTCCCCACCCCCATCACCTCTGACCCACGGGG GCGACAAGGCCAGCCCTCCCCACCCCCCTCACCTCTGACCCACGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03195.hp2 HG03209.hp1 others(6): Show HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA19043.hp1	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0008 a0015	a0002c0002 a0005c0005 a0006c0015 others(3): Show a0002c0002 a0005c0005 a0006c0015 a0006c0042 a0008c0008 a0015c0046	a0002c0002t0007 a0005c0005t0002 a0005c0005t0003 others(4): Show a0002c0002t0007 a0005c0005t0002 a0005c0005t0003 a0006c0015t0007 a0006c0042t0009 a0008c0008t0002 a0015c0046t0003	a0002c0002t0007g0108 a0005c0005t0002g0133 a0005c0005t0003g0141 others(6): Show a0002c0002t0007g0108 a0005c0005t0002g0133 a0005c0005t0003g0141 a0006c0015t0007g0227 a0006c0042t0009g0228 a0008c0008t0002g0057 a0008c0008t0002g0084 a0008c0008t0002g0085 a0015c0046t0003g0233	9	401	0.0224	94	c.136 others(111): Show c.1364+150_1364+151insACGTGGGTCAGAGGTGAGGGGGGTGGGG AGGGCTGGCCTTGTCGCCCCCGTGGGTCAGAGGTGATGGGGGTGGGGAGG GCTGGCCTTGTCGCCC	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	8/10			chr17	TogoVar
SCD5_chr4_82624539_82803796	82712256	A A	ATACATAT others(87): Show ATACATATGTATATATATATATATATATATACATATATATATATATATAC ATATATATATATATACGTATATATATATACATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	210	0.0048	94	c.233 others(111): Show c.233-6844_233-6843insCGTATATATATATATGTATATATATATA CGTATATATATATATATGTATATATATATATATATGTATATATATATATA TATATATACATATGTA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712258	A A	ACATATAT others(87): Show ACATATATATATATATATATATATATACATATATATATATATATACATAT ATATATATATATGTATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0003 a0001c0001t0019g0003	1	210	0.0048	94	c.233 others(111): Show c.233-6846_233-6845insCGTATATATATATATATATGTATATATA TATACATATATATATATATATGTATATATATATATATATGTATATATATA TATATATATATATATG	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712281	T T	TATACATA others(87): Show TATACATATATATATATATATATACATATATATATATATATACGTATATA TATATACATATATATATATATACGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19077.hp1 HG00738.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0139 a0001c0001t0002g0113 a0001c0001t0002g0139	2	210	0.0095	94	c.233 others(111): Show c.233-6869_233-6868insGTATATATATATATATATATACGTATAT ATATATATATGTATATATATATACGTATATATATATATATATGTATATAT ATATATATATATGTAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288428	C C	CCCGCTCC others(87): Show CCCGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0003 a0011c0018t0003	a0011c0018t0003g0170 a0011c0018t0003g0170	1	290	0.0035	94	c.166 others(111): Show c.1662+392_1662+393insCGCTCCATTCCCTGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288493	T T	TCCCGTGT others(87): Show TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	290	0.0035	94	c.166 others(111): Show c.1662+477_1662+478insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGT GTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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