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
SLC12A7_chr5_1045384_1117063	1070728	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	110	0.0091	104	c.224 others(123): Show c.2241+2904_2241+2905insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071368	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0011g0078 a0001c0006t0011g0079	2	103	0.0194	104	c.224 others(123): Show c.2241+2264_2241+2265insCACTGGGGCTGCATAAGTGTGATGCC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071657	C C	CAGCCCCC others(97): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAACGCAGCCCC CAGTG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0070 a0002c0004t0001g0070	1	102	0.0098	104	c.224 others(123): Show c.2241+1975_2241+1976insCACTGGGGGCTGCGTTAAGTGTGATG CCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	G G	GCCCCAGT others(97): Show GCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACAGGCATCACACTTATGCAGCCCCAG TGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0107 a0001c0028t0002g0107	1	74	0.0135	104	c.224 others(123): Show c.2241+1641_2241+1642insGCTCACTGGGGCTGCATAAGTGTGAT GCCTGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTG CTGGGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A24_chr11_63074940_63149221	63092529	C C	CATGGTAC others(97): Show CATGGTACTGATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATGGAACAGAACAGAGACCT CAGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	20	0.0500	104	c.107 others(123): Show c.1070+3461_1070+3462insTTCTGAGGTCTCTGTTCTGTTCCATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATCAGTACCAT	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	6/9			chr11	TogoVar
SLC25A45_chr11_65370192_65387646	65374305	C C	CCCATGTG others(97): Show CCCATGTGCCCAGGTGGAGCAGGGTAGCCATGTGCCCAGGTGGAGCAGGG TAGCCATGTGCCCAGGTGGAGCAGGGTAGCCATGTGCCCAGGTGGAGCAG GGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	104	c.21 others(115): Show c.2101_*2102insCTACCCTGCTCCACCTGGGCACATGGCTACCCTG CTCCACCTGGGCACATGGCTACCCTGCTCCACCTGGGCACATGGCTACCC TGCTCCACCTGGGCACATGG	SLC25A45	ENSG00000162241.13	transcript	ENST00000398802.6	protein_coding		886		chr11	TogoVar
SLC25A4_chr4_185138266_185155382	185141247	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0032 a0001c0001t0015g0032	1	177	0.0056	104	c.-21 others(115): Show c.-2126_-2125insCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SLC25A4	ENSG00000151729.11	transcript	ENST00000281456.11	protein_coding		2018		chr4	TogoVar
SLC27A5_chr19_58493333_58516992	58502426	G G	GACAGTTA others(97): Show GACAGTTAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGAGTAGTGAG TGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGAAGATGGATG GGTGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp2 NA19009.hp1 NA18951.hp1 NA19000.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0243 a0001c0001t0001g0045 a0001c0001t0001g0243	3	421	0.0071	104	c.105 others(123): Show c.1058-1017_1058-1016insTCACCCATCCATCTTCTCACTCACTA CTCTAACTGTTCACCCATCCATCTTCTCACTCACTACTCTGTTCACCCAT CCATCTTCTCACTCACTACTCTAACTGT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0347 a0002c0007t0001g0347	1	189	0.0053	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCGTTCGTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0013 a0013	a0013c0034 a0013c0034	a0013c0034t0001 a0013c0034t0001	a0013c0034t0001g0351 a0013c0034t0001g0351	1	189	0.0053	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA19010.hp1 NA18987.hp2 NA19010.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0055 a0004c0003t0001g0076 a0004c0003t0001g0055 a0004c0003t0001g0076	2	190	0.0105	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19091.hp1 NA18986.hp1 NA19091.hp1	a0004 a0007 a0004 a0007	a0004c0003 a0007c0010 a0004c0003 a0007c0010	a0004c0003t0001 a0007c0010t0001 a0004c0003t0001 a0007c0010t0001	a0004c0003t0001g0329 a0007c0010t0001g0342 a0004c0003t0001g0329 a0007c0010t0001g0342	2	190	0.0105	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCGTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928527	G G	GTTCGTTC others(97): Show GTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0190 a0002c0005t0002g0190	1	189	0.0053	104	c.108 others(123): Show c.1083+4420_1083+4421insGTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928539	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG06807.hp2 NA19068.hp1 HG03688.hp1 HG06807.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0001 a0001c0004 a0003c0001	a0001c0004t0001 a0003c0001t0001 a0003c0001t0002 a0001c0004t0001 a0003c0001t0001 a0003c0001t0002	a0001c0004t0001g0084 a0003c0001t0001g0143 a0003c0001t0002g0152 a0001c0004t0001g0084 a0003c0001t0001g0143 a0003c0001t0002g0152	3	368	0.0082	104	c.108 others(123): Show c.1083+4477_1083+4478insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18969.hp2 HG00733.hp1 NA18969.hp2	a0003 a0008 a0003 a0008	a0003c0001 a0008c0013 a0003c0001 a0008c0013	a0003c0001t0001 a0008c0013t0001 a0003c0001t0001 a0008c0013t0001	a0003c0001t0001g0369 a0008c0013t0001g0113 a0003c0001t0001g0369 a0008c0013t0001g0113	2	355	0.0056	104	c.108 others(123): Show c.1083+4477_1083+4478insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0003 a0003c0019t0003	a0003c0019t0003g0104 a0003c0019t0003g0104	1	354	0.0028	104	c.108 others(123): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928543	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0133 a0003c0001t0001g0133	1	354	0.0028	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0008 a0008	a0008c0041 a0008c0041	a0008c0041t0001 a0008c0041t0001	a0008c0041t0001g0056 a0008c0041t0001g0056	1	370	0.0027	104	c.108 others(123): Show c.1083+4473_1083+4474insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTCTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0203 a0001c0008t0002g0203	1	370	0.0027	104	c.108 others(123): Show c.1083+4481_1083+4482insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928547	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0315 a0003c0001t0001g0315	1	370	0.0027	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(97): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18963.hp2 HG00673.hp2 NA18963.hp2	a0002 a0003 a0002 a0003	a0002c0007 a0003c0001 a0002c0007 a0003c0001	a0002c0007t0001 a0003c0001t0002 a0002c0007t0001 a0003c0001t0002	a0002c0007t0001g0176 a0003c0001t0002g0217 a0002c0007t0001g0176 a0003c0001t0002g0217	2	365	0.0055	104	c.108 others(123): Show c.1083+4485_1083+4486insCTCTCTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC43A2_chr17_1564268_1633834	1605551	A A	AGGCTGGG others(97): Show AGGCTGGGGAGCTGGGTGGTGGGTGGGGGCTGCGGAGCTGGGAGGTGGGT GGGGGCTGGGGAGCTGGGTGGTGGGTGGGGGCTGGGGAGCTGGGTGGTGG GTGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0117 a0001c0002t0125g0117	1	376	0.0027	104	c.501 others(121): Show c.501+7643_501+7644insCCCACCCACCACCCAGCTCCCCAGCCCC CACCCACCACCCAGCTCCCCAGCCCCCACCCACCTCCCAGCTCCGCAGCC CCCACCCACCACCCAGCTCCCCAGCC	SLC43A2	ENSG00000167703.15	transcript	ENST00000301335.10	protein_coding	5/13			chr17	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(97): Show GGAAGAAGAGGAAGAAGAAAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0161 a0001c0004t0008g0161	1	219	0.0046	104	c.42 others(115): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTC TTTTCTTCTTCCTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC45A1_chr1_8313114_8349165	8331227	G G	GTATTTTT others(97): Show GTATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTGTTA AAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	384	0.0026	104	c.144 others(121): Show c.1443+386_1443+387insGTTAAAAAATATTTTTAAAAAACACTTT TAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACT TTTAAAAAATATTTTTAAAAAACACT	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8331227	G G	GTATTTTT others(97): Show GTATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAA AAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTA AAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0138 a0001c0016t0001g0138	1	384	0.0026	104	c.144 others(121): Show c.1443+395_1443+498dupATATTTTTAAAAAACACTTTTAAAAAAT ATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAA ATATTTTTAAAAAACACTTTTAAAAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGAGAG others(97): Show AGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACC GTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAG AGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG00741.hp2 HG01433.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0093 a0002c0001t0001g0094	2	129	0.0155	104	c.82 others(115): Show c.8287_*8288insCCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCCACGGTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLIT2_chr4_20246905_20625561	20472310	A A	ATATCTAT others(97): Show ATATCTATATATATAGATATATATCTATATATATAGATATATATCTATAT ATCTATATATAGATATATATCTATATATATATAGATATATATCTATATAT AGATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG00735.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0060 a0001c0002t0002g0047 a0001c0001t0003g0060 a0001c0002t0002g0047	2	226	0.0088	104	c.467 others(121): Show c.467+4490_467+4491insCTATATATATAGATATATATCTATATAT ATAGATATATATCTATATATCTATATATAGATATATATCTATATATATAT AGATATATATCTATATATAGATCTAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472593	T T	TATAGATA others(97): Show TATAGATATATCTATATATATCGATATATATCGATATATATAGATATATC GATATATAGATATATCTATATATATCGATATATATCGATATATCTATATA TATCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0188 a0001c0001t0030g0188	1	155	0.0065	104	c.467 others(121): Show c.467+4773_467+4774insGATATATCTATATATATCGATATATATC GATATATATAGATATATCGATATATAGATATATCTATATATATCGATATA TATCGATATATCTATATATATCGATA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMAD2_chr18_47803957_47935659	47850849	T T	TAATATAT others(97): Show TAATATATATTATATATTATATATATATTATATATATTATGTATAATATA TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0296 a0001c0001t0137g0296	1	93	0.0108	104	c.784 others(119): Show c.784+424_784+425insTAATATATAATATATATTATACATAATATA TATAATATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55500894	A A	ATATTATA others(97): Show ATATTATAATATAAAATATACTATTATATATTATAATATGTAATATACTA TTATATATTATAATATATAATATACTATTTTATATTATAATATATAATAT ATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG02622.hp1 others(3): Show HG02145.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0003t0004 a0001c0001t0004 a0001c0001t0010 a0001c0003t0004	a0001c0001t0004g0220 a0001c0001t0004g0226 a0001c0001t0010g0224 others(3): Show a0001c0001t0004g0220 a0001c0001t0004g0226 a0001c0001t0010g0224 a0001c0001t0010g0228 a0001c0003t0004g0027 a0001c0003t0004g0028	6	336	0.0179	104	c.17 others(123): Show c.174+9984_*174+9985insAATATATATTATATATTATAATATAA AATAGTATATTATATATTATAATATATAATAGTATATTACATATTATAAT ATATAATAGTATATTTTATATTATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168560505	T T	TGAGGCTC others(97): Show TGAGGCTCTCACTGCATTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGA GACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	163	0.0061	104	c.637 others(123): Show c.637+11316_637+11317insATTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560525	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	156	0.0064	104	c.637 others(123): Show c.637+11367_637+11368insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560577	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	112	0.0089	104	c.637 others(123): Show c.637+11419_637+11420insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560624	A A	ATTCTTGG others(97): Show ATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	124	0.0081	104	c.637 others(123): Show c.637+11444_637+11445insCTGCCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560650	A A	ACCCTGAG others(97): Show ACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTT TCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	88	0.0114	104	c.637 others(123): Show c.637+11472_637+11473insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560661	C C	CGAGGCTC others(97): Show CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	173	0.0058	104	c.637 others(123): Show c.637+11471_637+11472insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACGTGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560824	C C	CTCACTGC others(97): Show CTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	171	0.0058	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTTTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560837	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	137	0.0073	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560870	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	161	0.0062	104	c.637 others(123): Show c.637+11679_637+11680insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560936	A A	GTTCTTGG others(97): Show GTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	133	0.0075	104	c.637 others(123): Show c.637+11732_637+11733insGTTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560941	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	156	0.0064	104	c.637 others(123): Show c.637+11756_637+11757insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560962	A A	ACCCTGAG others(97): Show ACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC ATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TCCTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	98	0.0102	104	c.637 others(123): Show c.637+11770_637+11771insAAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAG GAGGTGTCATTTTCCTGCCCTGAGACAC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561078	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAT GTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0040 a0001c0002t0002g0041	2	162	0.0123	104	c.637 others(123): Show c.637+11887_637+11888insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGATGTGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561078	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	161	0.0062	104	c.637 others(123): Show c.637+11887_637+11888insTGTTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561097	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	147	0.0068	104	c.637 others(123): Show c.637+11912_637+11913insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCA CTGTGTTCTCGGAGGAGGTGTCATTTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	125	0.0080	104	c.637 others(123): Show c.637+12043_637+12044insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCG TTCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	125	0.0080	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561149	T T	TGGAGGAG others(97): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18950.hp2 HG00423.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0138 a0001c0002t0002g0009 a0001c0001t0001g0138 a0001c0002t0002g0009	2	126	0.0159	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561182	G G	GAGGCTCT others(97): Show GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	160	0.0063	104	c.637 others(123): Show c.637+11991_637+11992insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTT CCTGCCCTGAGACACAAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561222	G G	GCCCTGAG others(97): Show GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	173	0.0058	104	c.637 others(123): Show c.637+12043_637+12044insTGTTCTCGGAGGAGGTGTCATTTTCC TGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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