Joint Open Genome and Omics Platform (JoGo)

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view	regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
	CYP4F11_chr19_15907377_15939529	15933309	GGAATGAG others(493): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18986.hp2 HG01952.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0052 a0001c0002t0001 a0001c0002t0052	a0001c0002t0001g0270 a0001c0002t0052g0271 a0001c0002t0001g0270 a0001c0002t0052g0271	2	368	0.0054	-500	c.198 others(15): Show c.198+402_198+901del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
	CYP4F11_chr19_15907377_15939529	15933429	AGAATGAG others(493): Show AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTG AGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01993.hp1 others(13): Show HG00609.hp2 HG01070.hp1 HG01993.hp1 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02738.hp1 NA18948.hp2 NA18966.hp2 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19058.hp2 NA19070.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(7): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0048 a0001c0002t0049 a0001c0002t0051 a0001c0002t0117 a0002c0001t0002 a0002c0001t0012 a0002c0001t0013	a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0263 others(13): Show a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0005g0251 a0001c0002t0008g0250 a0001c0002t0008g0253 a0001c0002t0008g0257 a0001c0002t0008g0259 a0001c0002t0048g0254 a0001c0002t0049g0260 a0001c0002t0051g0252 a0001c0002t0117g0264 a0002c0001t0002g0265 a0002c0001t0012g0261 a0002c0001t0012g0262 a0002c0001t0013g0255	16	162	0.0988	-500	c.198 others(15): Show c.198+282_198+781del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
	DIP2C_chr10_269201_694668	447770	CGTCTATA others(493): Show CGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CGTCGATACTCAGGATCACACACAGTGCGGCAGCAGGACCCACTCATTCC CATTAATAATCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC TGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCAATCACCCC CGTTGATATTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CACTGATGCTCAGGATCACACACAGTAGGGCAGCAGGACCCACTCATCCC CGTCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC CATCTATACTCAGGATCACACACAGTGGGGCAGCAGGACCCGCTCACTCC CGTCGATACTCAGGATCACACACAGTGCGGCAGCAGGACCCACTCATTCC CGTCAATAATCAGGATCACACACAGTGGGGCAGCAGGACCCACTCATCCC T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0007 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	-500	c.269 others(17): Show c.269-7274_269-6775del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
	DPH7_chr9_137549444_137583925	137565927	CTCTGTCT others(493): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGT CTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGG GTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGC TCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCT GTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGA GGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCT G	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	335	0.0030	-500	c.641 others(16): Show c.641-1273_641-774del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
	DPH7_chr9_137549444_137583925	137566806	GGGGTGAC others(493): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC T	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	277	0.0036	-500	c.641 others(17): Show c.641-2152_641-1653del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
	FKRP_chr19_46741057_46763575	46763075	TTTGGGAG others(493): Show TTTGGGAGGCCGAAGAGGGCGGATTACTTGAGGTCAGGAGTTCAAGACCA GCCTGAACAACATGGTGAAACCCCATCCCTACTAAAAATACAAAAATTAG CCGGGCGTGATGGTGGGTGCCTGTAATCCCAGCTACTCAGGAAGCTGAGG CAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATT GCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGATTCTGTCTCAAAAA TAAAATAAGGTAAATAAAAAATAAAAAACCTGTCTACAAATGCACCTTTA TGCACAATAGCCCCAACCTGGAAACCATCAGATGTAAATCAACAGGTGGG TGGATAAGCAAACTGTGGTACACTCAGACAACATAATACTCCTTAGCAAG TTTTTTAAAAAAGGAAAGAACTGGGCCGGACGTGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGTCGAGGCGGGCCGATCACCTGAGGTCGGGAG T	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	-500	c.61 others(11): Show c.6138_*6637del		FKRP	ENSG00000181027.11	transcript	ENST00000318584.10	protein_coding					4501		chr19	TogoVar
	HCN1_chr5_45249948_45701380	45526869	TATCAGCT others(493): Show TATCAGCTTAATTACCCCTGCCACACAGAGGTATGCTCCATCTTATTTCC TCCAATTTGCAAAGAAGGAAAGGGAAGCCAATTAAAATGTCTATGAACTA ACTTGGGTTTCAGTCGTCTATCAGAAATCTTTCCTTTCCTTCCTTCTCTG CCCATCATTCTCATTCTCTCTCTCTTTTCTCCCTCTTTCTCTCTCTCTCT CTCTCTGTCTCTCTCACACACACTGACATTCACATCCTTTCCTACACAGA CTGAGATAGATACTATTCTTTTGAGCCCAGAAACTTCCTTCACATTTTAA ATGTCTCTTCTCATCTATCTCTCTGAATAGAATGCGAGGGGACTGAAGGC AGAAAGAACATGTTATATTAATTTTTTTATATCTTCATTTGCATGGCGTA TAGTACAGAGTCAATAAATGTTTAGTGGTTTAAATTTCTGAAGGTGACAT GGCCAGTAATGGTGGAGATAGGATCTAAACAGAAGCTTATACCATGTTAT C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp1 others(58): Show HG00099.hp1 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02738.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19009.hp2 NA19010.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0005t0002	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 others(58): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0056 a0001c0001t0004g0062 a0001c0001t0004g0068 a0001c0001t0006g0064 a0001c0001t0007g0214 a0001c0001t0012g0050 a0001c0001t0016g0014 a0001c0001t0018g0018 a0001c0001t0027g0023 a0001c0001t0029g0070 a0001c0001t0038g0042 a0001c0001t0039g0218 a0001c0005t0002g0219	61	224	0.2723	-500	c.850 others(19): Show c.850-65362_850-64863del		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	2/7						chr5	TogoVar
	MLPH_chr2_237482251_237560322	237543300	GGGGGACA others(493): Show GGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTTGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGAACAGTGG TGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGG TGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGA CAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAG GACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGG GACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG A	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03225.hp1 others(2): Show HG01496.hp2 HG02922.hp2 HG03225.hp1 HG03540.hp1 NA19240.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0010 a0009c0009t0002g0105 a0009c0009t0002g0116 others(2): Show a0009c0009t0002g0010 a0009c0009t0002g0105 a0009c0009t0002g0116 a0009c0009t0002g0124 a0009c0009t0002g0125	5	271	0.0185	-500	c.153 others(18): Show c.1539+643_1539+1142del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
	NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(493): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCT C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0063 a0001c0013t0001g0063	1	283	0.0035	-500	c.-23 others(11): Show c.-2359_-1860del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2274		chr2	TogoVar
	OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(493): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACACATATATGTATATCTATATGTAACACACA C	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02615.hp2 others(7): Show HG02040.hp2 HG02132.hp2 HG02615.hp2 HG04115.hp1 HG04184.hp1 NA18956.hp1 NA18981.hp2 NA18995.hp2 NA19065.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0008 a0004c0013 a0001c0001 a0002c0008 a0004c0013	a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0054 a0001c0001t0065 a0001c0001t0068 a0002c0008t0060 a0004c0013t0004	a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0002g0138 others(7): Show a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0203 a0001c0001t0007g0191 a0001c0001t0054g0223 a0001c0001t0065g0059 a0001c0001t0068g0085 a0002c0008t0060g0171 a0004c0013t0004g0189	10	202	0.0495	-500	c.894 others(17): Show c.894-7777_894-7278del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
	SCUBE1_chr22_43192280_43348372	43280988	AGTCACCC others(493): Show AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCAC CTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTC CCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG GCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTT G	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0019 a0002c0002t0004 a0001c0008t0019 a0002c0002t0004	a0001c0008t0019g0029 a0002c0002t0004g0044 a0001c0008t0019g0029 a0002c0002t0004g0044	2	262	0.0076	-500	c.484 others(18): Show c.484+9558_484+10057del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
	SCUBE1_chr22_43192280_43348372	43280990	TCACCCTG others(493): Show TCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTA TCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTC CTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTG TCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCA CCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCT CCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCC TCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCC TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGC CACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTTGG C	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0015 a0001c0051t0015	a0001c0051t0015g0013 a0001c0051t0015g0013	1	237	0.0042	-500	c.484 others(18): Show c.484+9556_484+10055del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
	SDHA_chr5_213320_262082	261582	CCAGAGCA others(493): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCA TTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGC CCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTA CCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTC CCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show HG02280.hp2 HG02647.hp2 HG03471.hp1 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0005 a0005c0005t0003 a0005c0005t0005	a0005c0005t0003g0105 a0005c0005t0005g0104 a0005c0005t0005g0106 others(1): Show a0005c0005t0003g0105 a0005c0005t0005g0104 a0005c0005t0005g0106 a0005c0005t0005g0107	4	233	0.0172	-500	c.51 others(11): Show c.5163_*5662del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4501		chr5	TogoVar
	SLC66A2_chr18_79897420_79956653	79921342	GACAGGAA others(493): Show GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAG TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGA C	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0274 a0001c0001t0007g0274	1	350	0.0029	-500	c.392 others(17): Show c.392-2442_392-1943del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
	STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(493): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAA TACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA T	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02559.hp2 others(7): Show HG01243.hp2 HG02451.hp2 HG02559.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 others(7): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0119 a0001c0001t0002g0140 a0001c0001t0004g0015 a0001c0001t0004g0016	10	275	0.0364	-500	c.550 others(14): Show c.550+357_551-18del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
	STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(493): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT G	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0144 a0001c0003t0016g0145 a0001c0003t0016g0144 a0001c0003t0016g0145	2	286	0.0070	-500	c.550 others(14): Show c.550+330_551-45del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
	STAT3_chr17_42308324_42393442	42338021	GGACCTGA others(493): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT T	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0299 a0001c0001t0003g0299	1	296	0.0034	-500	c.550 others(15): Show c.550+210_551-165del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar