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
GOLGA3_chr12_132763914_132833869	132817809	GCACTCCA others(190): Show GCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCAC GCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCC CCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACG CTCTAAGGTGAACCCCCCCCCACACCTCCACACTCTAAGGTGAACTCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 HG02486.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0081 a0001c0003t0018 a0001c0003t0081	a0001c0003t0018g0156 a0001c0003t0081g0308 a0001c0003t0018g0156 a0001c0003t0081g0308	2	160	0.0125	-197	c.134 others(16): Show c.134-1194_134-998del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817818	ACCTCCAC others(190): Show ACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGG TGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCACA CCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGGT GAACCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0190 a0001c0001t0017g0190	1	301	0.0033	-197	c.134 others(17): Show c.134-1203_134-1007del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
HES4_chr1_993964_1005097	996559	GTCTGGGG others(190): Show GTCTGGGGCCACAGGATGCAGGGTGGGGAGGACAGAAAGGACCCCCCGCT GGAGGGGGCACCCCACATCTGGGGCCACAGGATGCAGGGTGGGGAGGGCA GAAAGGACCCCCCGCGGGAGGGGGCACCTCACGTCTGGGGCCACAGGATG CAGGGTGGGGAGGGCAGAAAGAACCCCCGCTGGAGGGGGCACCCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA19070.hp1 HG00438.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	74	0.0270	-197	c.23 others(11): Show c.2303_*2499del	HES4	ENSG00000188290.11	transcript	ENST00000304952.11	protein_coding		2404		chr1	TogoVar
ICA1L_chr2_202768176_202876766	202770549	AAACTCCT others(190): Show AAACTCCTGGCCTCAAGTGATCCTCCCACCTCTGCCTCCCAAAGTGCTGG ACTCAAGGGATCCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACCACAGGT ATGTGCCACCATGCCTGGCTAATTTTTATATGAATTTATTTAATTTTTTT TTTTTTTCGTAGAAACAAGGTCTTGCCACACTGCTTAGGCTGGTCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA19240.hp1 HG02809.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0068 a0001c0001t0013g0071 a0001c0001t0013g0068 a0001c0001t0013g0071	2	328	0.0061	-197	c.87 others(11): Show c.8787_*8983del	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding		2626		chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21178467	GGATTCAC others(190): Show GGATTCACAGACCTCAGTTTATTTCCAGGTATAGTAACCATGTGTCCAGG ATAGTTATTTAAGTCCCATGGGTTTAACTTTCTCATCTGGAGTCCTACTT TTTGGGGTTGGTGATGATATTTAAGGAAATAATAGGCATGTGATTGGTGA GAATGTTAGCTAGTAATTATATTACTTCACTTAACTTCTCCCTTCCAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG02622.hp2 others(2): Show HG01243.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0003g0018 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0003g0018 a0001c0001t0003g0030 a0001c0002t0004g0071	5	80	0.0625	-197	c.62- others(19): Show c.62-295955_62-295759del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
LIPG_chr18_49557057_49604185	49579008	GGGAGAGG others(190): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02647.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0105 a0001c0001t0104 a0001c0001t0105	a0001c0001t0104g0160 a0001c0001t0105g0159 a0001c0001t0104g0160 a0001c0001t0105g0159	2	377	0.0053	-197	c.794 others(17): Show c.794-2404_794-2208del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LRRC27_chr10_132327193_132386508	132358751	GAGGTGAT others(190): Show GAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAG GAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTA GGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGA GCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18963.hp2 NA18964.hp1 others(2): Show HG02027.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068	5	287	0.0174	-197	c.117 others(19): Show c.1171-2700_1171-2504del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MPP1_chrX_154773684_154810485	154780559	CAGGTGGT others(190): Show CAGGTGGTTGGCGGTCCCTGTCCAAATTCTAAGTGTGTGTGCTCTTGGAC CCAGTGATCCTACTTGGAGTTTTTCCTACAGATATATTTGCACACATGTG CTATATGCACAGGGCTATTGACTGCAGTATTACACATGCATGCAGCAGAA GACCAAGCAGCTATAGAGAAAAAGAGTTCCTCACACCCTGATAGGGAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0077 a0001c0002t0001g0046 a0001c0002t0001g0077	2	263	0.0076	-197	c.122 others(17): Show c.1224+483_1224+679del	MPP1	ENSG00000130830.15	transcript	ENST00000369534.8	protein_coding	11/11			chrX	TogoVar
MTRF1L_chr6_152982362_153007709	153005336	GTATTTTC others(190): Show GTATTTTCTTTATAGCATTTATTAGTAATCACTTAGTGGAACCTAATATT AGTGTTTAGAATTTGTTTAGCTCAGTGTAAATGTCCAGAAAATTTACCTT CAATATAATCTCTTTAAAAACGCATTACTTTACAGTGGAGAAATATAATA GATGCTACCTCAGCTAAGTGATCAAGGTTAACATCAACAGCTAAGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	466	0.0021	-197	c.-28 others(11): Show c.-2848_-2652del	MTRF1L	ENSG00000112031.16	transcript	ENST00000367233.10	protein_coding		2628		chr6	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(190): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp1 HG01261.hp1 others(8): Show HG00423.hp2 HG01123.hp1 HG01261.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03704.hp2 HG03927.hp2 NA19010.hp2 NA19084.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 a0001c0002t0003 a0001c0002t0023 a0004c0006t0001 a0004c0006t0004	a0001c0001t0002g0169 a0001c0001t0015g0170 a0001c0001t0015g0171 others(8): Show a0001c0001t0002g0169 a0001c0001t0015g0170 a0001c0001t0015g0171 a0001c0001t0015g0172 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0287 a0001c0002t0003g0291 a0001c0002t0023g0130 a0004c0006t0001g0321 a0004c0006t0004g0114	11	116	0.0948	-197	c.628 others(17): Show c.628+4190_628+4386del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1_chr20_64159452_64247253	64174148	CCTGTAGT others(190): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01258.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	3	218	0.0138	-197	c.-99 others(17): Show c.-99+9410_-99+9606del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175537	CAGCATCT others(190): Show CAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTG TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTG CAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTG TAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	212	0.0047	-197	c.-99 others(19): Show c.-99+10810_-99+11006del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57687858	TATATAAT others(190): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGT ACAATATACACATATATAATGTGTGTACAATATACACATATATAAATGTG TGTACAATATACACATATATAAATGTGTGTACAATATACACATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02004.hp2 HG02135.hp1 others(3): Show HG00544.hp1 HG02004.hp2 HG02135.hp1 HG03492.hp1 NA18993.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 a0001c0001t0001 a0001c0003t0002 a0002c0002t0002	a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0282 others(3): Show a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0282 a0001c0003t0002g0078 a0002c0002t0002g0010 a0002c0002t0002g0052	6	343	0.0175	-197	c.33 others(11): Show c.3361_*3557del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2495		chr15	TogoVar
NDST3_chr4_118029486_118263634	118066645	TATAACAT others(190): Show TATAACATGTTATATATTATATATACATTATATATAACATGTTATATATT ATATATACATTATATATAACATGTTATATATTATATATACATTATATATA ACATGTTATATATTATATATACATTATATATAACATGTTATATATTATAT ATACATTATATATAACATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	212	0.0047	-197	c.981 others(19): Show c.981+11757_981+11953del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOL10_chr2_10565754_10694975	10587066	TACATATA others(190): Show TACATATATATACATATATATACATATATATACACATATATATACATATA TATACATATATATACATATATACACATATATATACATATATACACATATA TACACATATATATACACATATATATACACATATATATACACATATATATA TACATATATATACATATATATATACATACATATATATATATACACATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03471.hp2 HG02257.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0257 a0001c0001t0001g0213 a0001c0001t0001g0257	2	308	0.0065	-197	c.184 others(19): Show c.1844+1780_1844+1976del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NPAS1_chr19_47014837_47050775	47027463	CCCGTCTC others(190): Show CCCGTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCATC TCTCTGCCCCTGTTCTCCCTTCTCTCTGCCCCTGGTCTCCTGTCTGTCTG CCCCTGGTCTCCCTTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTG GTCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTGTCTGCCCCTGGTCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	416	0.0024	-197	c.359 others(17): Show c.359-4812_359-4616del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS1_chr19_47014837_47050775	47027506	TCCCATCT others(190): Show TCCCATCTCTCTGCCCCTGTTCTCCCTTCTCTCTGCCCCTGGTCTCCTGT CTGTCTGCCCCTGGTCTCCCTTCTCTCTGCCCCTGGTCTCCCGTCTCTCT GCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCGTCTGTCTGCCCCT GGTCTCCCTTCTCTCTGCCCCTGGTCTCCTGTCTGTCTGCCCCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	413	0.0024	-197	c.359 others(17): Show c.359-4768_359-4572del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
OTUD7A_chr15_31470398_31875673	31511189	CACACATA others(190): Show CACACATATGTATATCTATATGTAACACACATACATATGTATATCTATAT GTAACACACATACATATGTATATCTATATGTAACACACATACATATGTAT ATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATAT ATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0077 a0002c0003t0077	a0002c0003t0077g0144 a0002c0003t0077g0144	1	244	0.0041	-197	c.894 others(17): Show c.894-7568_894-7372del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(190): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0299 a0002c0002t0002g0299	1	249	0.0040	-197	c.981 others(17): Show c.981+1869_981+2065del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686272	ACACAGCG others(190): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	219	0.0046	-197	c.981 others(17): Show c.981+1543_981+1739del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686523	CAGAACAG others(190): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	331	0.0030	-197	c.981 others(17): Show c.981+1292_981+1488del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686605	ACACAGCG others(190): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACG TCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	279	0.0036	-197	c.981 others(17): Show c.981+1210_981+1406del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686847	GCCCAGCC others(190): Show GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	342	0.0029	-197	c.981 others(16): Show c.981+968_981+1164del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PHACTR3_chr20_59599540_59852711	59674651	TCTCCTGT others(190): Show TCTCCTGTTCCCCACTTCTCCTCTTCCCACCTTCTCCTGTTCCTGCCTTC TCCTGTCCCCCCTTCTCCTGTTCCCCCTCCTCCTGTTCCCCCCTTCTCTG GTTCCCTCCTTCTCCTGTTCCCCCTCCTTCTGTTTCCCCCCTTCTCCTCT TCCCACCTTCTCCTGTCCCCCACTTCTCCTGTTTCTGCCTTCTCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	247	0.0040	-197	c.119 others(19): Show c.119-68453_119-68257del	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAP1GAP2_chr17_2791438_3042741	3001095	AGTATCAG others(190): Show AGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCA GGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACA GTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAG GGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0027 a0002c0006t0027	a0002c0006t0027g0010 a0002c0006t0027g0010	1	216	0.0046	-197	c.120 others(19): Show c.1200+2720_1200+2916del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24			chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626247	TGTCATAT others(190): Show TGTCATATATATGTGTCATATATGTGTCATATATATGTGTCATATATGTG TCATATATATGTGTCGTATATGTGTCATATATATGTGTCGTATATGTGTC ATATATATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTG TCATATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG03017.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 others(2): Show a0001c0001t0009 a0001c0001t0028 a0001c0001t0030 a0001c0001t0058 a0001c0001t0061	a0001c0001t0009g0190 a0001c0001t0028g0192 a0001c0001t0030g0187 others(3): Show a0001c0001t0009g0190 a0001c0001t0028g0192 a0001c0001t0030g0187 a0001c0001t0030g0188 a0001c0001t0058g0184 a0001c0001t0061g0185	6	196	0.0306	-197	c.-25 others(11): Show c.-2576_-2380del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2150		chr7	TogoVar
SIGIRR_chr11_400716_419999	411438	GGGTGCCC others(190): Show GGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGTGCCCAG CTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACC ATGTCTGGATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	239	0.0042	-197	c.-15 others(19): Show c.-153-1608_-153-1412del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070836	CCCCCAGC others(190): Show CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTA TCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	118	0.0085	-197	c.224 others(19): Show c.2241+2600_2241+2796del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850341	ATATATAT others(190): Show ATATATATTATACATAATATGTATAATATATATTATATATATTATATAAT ATATATTATATATTATGTATAATATATATAATATATTATATATATTATGT ATAATATATATTATATATTATACATAATATATATTATATATTATATATTA TGTATAATATATGTTATATATATAATATATATTATGTATAATATATGT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0015 a0001c0002t0053g0015	1	308	0.0032	-197	c.784 others(15): Show c.784+736_784+932del	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
TFDP2_chr3_141939428_142154544	141969054	CATATATA others(190): Show CATATATATCTCATATATATGAGATATATATATATAACATATATATATAT CTCATATATATGAGATATATATATAACATATATATCCCATATATATGAGA TATATATATAACATATATATATATCTCATATATATGAGATATATATATAT AACATATATATATATCTCATATATATGAGATATATATATATATAACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0096 a0001c0001t0004 a0001c0001t0096	a0001c0001t0004g0231 a0001c0001t0096g0232 a0001c0001t0004g0231 a0001c0001t0096g0232	2	209	0.0096	-197	c.732 others(16): Show c.732+822_732+1018del	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TPO_chr2_1408463_1548673	1445596	GTCATTGC others(190): Show GTCATTGCTGCAGGAGGTACCATGTTGGAAGGGAATGGGGCAGGCTCCTT GTTTGTATGATCCAGTCATTGCTGCAGGAGGTACCGTGTTGGAAGGGAAT GGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTAC CATGTTGGAAGGGAATGGGGTAGGCTCCTTCTTGTTTGTATGAACCAC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0005 a0020c0024t0005	a0020c0024t0005g0009 a0020c0024t0005g0009	1	128	0.0078	-197	c.483 others(17): Show c.483-8048_483-7852del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIPR2_chr7_159023175_159149867	159129139	TGGGGGGG others(190): Show TGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCACACTC TGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCAGCTTC ACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCTGGGGGGAC AGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG03486.hp1 HG01934.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0327 a0001c0005t0019g0328 a0001c0005t0019g0330 a0001c0005t0019g0327 a0001c0005t0019g0328 a0001c0005t0019g0330	3	276	0.0109	-197	c.151 others(19): Show c.151+13110_151+13306del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
ZIM2_chr19_56769547_56845726	56772631	TAAAAAAA others(190): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT TTGCCAGGCATGGTGACGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCTGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGACACTCCATCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00544.hp1 others(45): Show HG00099.hp2 HG00140.hp1 HG00544.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01928.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02647.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp2 NA18942.hp2 NA18969.hp1 NA18977.hp2 NA18987.hp1 NA18998.hp1 NA19002.hp1 NA19006.hp2 NA19012.hp1 NA19060.hp2 NA19063.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0001c0002 a0001c0024 others(2): Show a0001c0001 a0001c0002 a0001c0024 a0011c0019 a0012c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0004 a0001c0024t0001 a0011c0019t0003 a0012c0017t0003	a0001c0001t0001g0025 a0001c0001t0001g0190 a0001c0001t0001g0243 others(43): Show a0001c0001t0001g0025 a0001c0001t0001g0190 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0103 a0001c0001t0003g0179 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0232 a0001c0001t0003g0247 a0001c0001t0003g0272 a0001c0001t0004g0089 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0009g0217 a0001c0001t0012g0314 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0024t0001g0244 a0011c0019t0003g0199 a0012c0017t0003g0113	48	74	0.6486	-197	c.18 others(11): Show c.1860_*2056del	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding		1915		chr19	TogoVar
ABCG1_chr21_42214140_42302244	42257955	TCCATCCC others(189): Show TCCATCCCTCCACTCATCCCTTCATTTACTCCATCCATCCTTCCTCCCAT TTCCCCATCCACTCCATCAGCCTCTCCATCCATCCCTCCACTCATCCCTC AACTCACCTCTTCATCCACTCCATCCATCCTTCCACACTTTTCCCCATCC ACTCCATCAGCCTCTCCATCCATCCCTCCATTAATCCTCCCCTCCAC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03041.hp1 HG03209.hp1 HG01261.hp2 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0263 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0001g0263 a0001c0001t0004g0265 a0001c0001t0004g0266	3	352	0.0085	-196	c.287 others(19): Show c.287-13114_287-12919del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14			chr21	TogoVar
ABCG1_chr21_42214140_42302244	42257956	CCATCCCT others(189): Show CCATCCCTCCACTCATCCCTTCATTTACTCCATCCATCCTTCCTCCCATT TCCCCATCCACTCCATCAGCCTCTCCATCCATCCCTCCACTCATCCCTCA ACTCACCTCTTCATCCACTCCATCCATCCTTCCACACTTTTCCCCATCCA CTCCATCAGCCTCTCCATCCATCCCTCCATTAATCCTCCCCTCCACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(169): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0001c0012 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0002t0002 a0001c0002t0016 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0019 a0001c0008t0011 a0001c0011t0004 a0001c0012t0004 a0003c0010t0001	a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0091 others(167): Show a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0002g0097 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0151 a0001c0001t0002g0164 a0001c0001t0002g0173 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0153 a0001c0001t0003g0163 a0001c0001t0003g0216 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0257 a0001c0001t0003g0298 a0001c0001t0003g0308 a0001c0001t0003g0318 a0001c0001t0003g0323 a0001c0001t0003g0344 a0001c0001t0004g0004 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0182 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0309 a0001c0001t0004g0311 a0001c0001t0004g0317 a0001c0001t0004g0324 a0001c0001t0004g0337 a0001c0001t0005g0011 a0001c0001t0005g0026 a0001c0001t0005g0043 a0001c0001t0005g0053 a0001c0001t0005g0062 a0001c0001t0005g0069 a0001c0001t0006g0030 a0001c0001t0006g0055 a0001c0001t0006g0066 a0001c0001t0006g0287 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0048 a0001c0001t0007g0060 a0001c0001t0008g0343 a0001c0001t0009g0221 a0001c0001t0009g0320 a0001c0001t0009g0321 a0001c0001t0009g0331 a0001c0001t0010g0006 a0001c0001t0010g0144 a0001c0001t0010g0301 a0001c0001t0011g0042 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0059 a0001c0001t0013g0294 a0001c0001t0013g0295 a0001c0001t0024g0103 a0001c0001t0025g0072 a0001c0001t0026g0316 a0001c0001t0028g0304 a0001c0001t0029g0262 a0001c0001t0031g0079 a0001c0002t0002g0096 a0001c0002t0002g0143 a0001c0002t0002g0270 a0001c0002t0002g0282 a0001c0002t0002g0322 a0001c0002t0016g0341 a0001c0003t0001g0250 a0001c0003t0003g0211 a0001c0003t0003g0259 a0001c0003t0005g0044 a0001c0003t0005g0050 a0001c0003t0005g0054 a0001c0003t0006g0041 a0001c0003t0007g0056 a0001c0003t0008g0119 a0001c0003t0019g0031 a0001c0008t0011g0046 a0001c0011t0004g0089 a0001c0012t0004g0276 a0003c0010t0001g0249	172	351	0.4900	-196	c.287 others(19): Show c.287-13058_287-12863del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1289718	TGCTCCGT others(189): Show TGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0076 a0007c0018t0006g0076	1	294	0.0034	-196	c.36 others(11): Show c.3650_*3845del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2672		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236755756	TGTTAGAA others(189): Show TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01981.hp2 others(12): Show HG01109.hp2 HG01243.hp1 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02486.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011	a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0003t0022 a0001c0007t0004 a0001c0007t0015 a0001c0011t0005	a0001c0001t0004g0103 a0001c0001t0004g0120 a0001c0001t0009g0073 others(12): Show a0001c0001t0004g0103 a0001c0001t0004g0120 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0119 a0001c0001t0009g0150 a0001c0001t0009g0185 a0001c0001t0014g0083 a0001c0001t0014g0085 a0001c0001t0014g0087 a0001c0001t0015g0117 a0001c0003t0022g0094 a0001c0007t0004g0086 a0001c0007t0015g0097 a0001c0011t0005g0101	15	181	0.0829	-196	c.215 others(17): Show c.2154+594_2154+789del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756527	TGCCCGCT others(189): Show TGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTG CCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGC CCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02145.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0198 a0001c0001t0004g0076 a0001c0001t0004g0198	2	335	0.0060	-196	c.215 others(17): Show c.2155-946_2155-751del	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17683215	CCCTGCTC others(189): Show CCCTGCTCTCACCCGGGTGCTCACTGCCCCCTGCTCTCACCCGGGTGCTC ACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCTCTCACCCGG GTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCTCTC ACCGGGGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp2 others(24): Show HG00733.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG03130.hp2 HG03491.hp2 HG03710.hp2 HG04115.hp2 HG04204.hp1 NA18612.hp1 NA18946.hp2 NA18954.hp1 NA18962.hp2 NA18966.hp1 NA19010.hp2 NA19074.hp1 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0011	a0001c0033 a0002c0003 a0002c0004 others(8): Show a0001c0033 a0002c0003 a0002c0004 a0002c0008 a0002c0018 a0002c0036 a0005c0015 a0005c0023 a0008c0016 a0008c0027 a0011c0025	a0001c0033t0002 a0002c0003t0002 a0002c0004t0002 others(8): Show a0001c0033t0002 a0002c0003t0002 a0002c0004t0002 a0002c0008t0002 a0002c0018t0002 a0002c0036t0002 a0005c0015t0002 a0005c0023t0002 a0008c0016t0002 a0008c0027t0002 a0011c0025t0002	a0001c0033t0002g0110 a0002c0003t0002g0025 a0002c0003t0002g0037 others(24): Show a0001c0033t0002g0110 a0002c0003t0002g0025 a0002c0003t0002g0037 a0002c0003t0002g0055 a0002c0003t0002g0083 a0002c0003t0002g0089 a0002c0003t0002g0116 a0002c0003t0002g0133 a0002c0003t0002g0141 a0002c0004t0002g0118 a0002c0004t0002g0120 a0002c0004t0002g0121 a0002c0004t0002g0146 a0002c0008t0002g0042 a0002c0008t0002g0100 a0002c0008t0002g0104 a0002c0008t0002g0126 a0002c0018t0002g0015 a0002c0018t0002g0155 a0002c0036t0002g0160 a0005c0015t0002g0067 a0005c0015t0002g0068 a0005c0023t0002g0101 a0008c0016t0002g0082 a0008c0016t0002g0132 a0008c0027t0002g0029 a0011c0025t0002g0049	27	166	0.1627	-196	c.301 others(19): Show c.3010-4318_3010-4123del	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1953152	ATTGTGAA others(189): Show ATTGTGAAGAAGGAAGCCGGGATCTCCGTCATTCCTTTCTGTATTTTATG TTGTGAAGAAGGAAGCCGGGATCTCCGTCGTTCCTTTCTGTATTTTATAT TGTGAAGAAGGAAGCCGGGATCTCCGTCATTCCTTTCTGTATTTTATGTT GTGAAGAAGGAAGCCGGGATCTCCGTCGTTCCTTTCTGTATTTTATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp1 HG02818.hp1 others(6): Show HG02145.hp2 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG03098.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA21309.hp1	a0001 a0017 a0022 a0001 a0017 a0022	a0001c0007 a0001c0026 a0001c0144 others(2): Show a0001c0007 a0001c0026 a0001c0144 a0017c0072 a0022c0142	a0001c0007t0006 a0001c0007t0008 a0001c0026t0007 others(3): Show a0001c0007t0006 a0001c0007t0008 a0001c0026t0007 a0001c0144t0052 a0017c0072t0007 a0022c0142t0007	a0001c0007t0006g0097 a0001c0007t0008g0347 a0001c0007t0008g0349 others(6): Show a0001c0007t0006g0097 a0001c0007t0008g0347 a0001c0007t0008g0349 a0001c0007t0008g0358 a0001c0007t0008g0362 a0001c0026t0007g0307 a0001c0144t0052g0339 a0017c0072t0007g0330 a0022c0142t0007g0311	9	362	0.0249	-196	c.352 others(17): Show c.3520+355_3520+550del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25757844	CCACCTGC others(189): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTC CACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01943.hp1 HG00735.hp1 HG01943.hp1	a0002 a0022 a0002 a0022	a0002c0074 a0022c0026 a0002c0074 a0022c0026	a0002c0074t0001 a0022c0026t0001 a0002c0074t0001 a0022c0026t0001	a0002c0074t0001g0113 a0022c0026t0001g0125 a0002c0074t0001g0113 a0022c0026t0001g0125	2	291	0.0069	-196	c.655 others(19): Show c.655-21899_655-21704del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758320	CCACCTGC others(189): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCA TTCCAATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	222	0.0045	-196	c.655 others(19): Show c.655-22375_655-22180del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82972229	CCACACTC others(189): Show CCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACA GGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACT GACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp1 NA20300.hp1 HG03225.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0010 a0001c0011t0011 a0001c0011t0001 a0001c0011t0010 a0001c0011t0011	a0001c0011t0001g0145 a0001c0011t0010g0148 a0001c0011t0011g0140 a0001c0011t0001g0145 a0001c0011t0010g0148 a0001c0011t0011g0140	3	266	0.0113	-196	c.460 others(17): Show c.460-6679_460-6484del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BRD1_chr22_49768283_49832873	49782660	ACTCCGCG others(189): Show ACTCCGCGACAATGCAGCTGGGATGGTCAGAGACAGACCCAAGGCCCAGG CCAGATGCCTGCACAAGACTTGCTCTGTGACAATGCCGCTGGGGACAGTC AGAGACAGACCCAAAGCCCATCTTGCTGGGACCTGCTCCATGACAATGCA GCTGGGACGGTCAGAGACAGACCCAAGGCCCATCGTGCTGGGACCCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	256	0.0039	-196	c.285 others(19): Show c.2857+4534_2857+4729del	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	8/12			chr22	TogoVar
BTBD19_chr1_44803523_44820585	44816399	TTATATAT others(189): Show TTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGAGTATATTATATATACACATAGATGTGTGTATATTATATATA CACATAGATGTGTGTATATATTATATATACACATAGATGTGTGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG02895.hp1 others(1): Show HG02486.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0073 a0001c0001t0077 a0001c0001t0028 a0001c0001t0073 a0001c0001t0077	a0001c0001t0028g0007 a0001c0001t0028g0088 a0001c0001t0073g0007 others(1): Show a0001c0001t0028g0007 a0001c0001t0028g0088 a0001c0001t0073g0007 a0001c0001t0077g0007	4	434	0.0092	-196	c.26 others(11): Show c.2628_*2823del	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		815		chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7114704	AAAAACCT others(189): Show AAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTCTGAGTCCG AAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGA AAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCGAA AACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG03041.hp2 others(3): Show HG01884.hp1 HG02280.hp2 HG03041.hp2 HG03453.hp2 HG03579.hp2 HG03688.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0006c0013	a0001c0001t0013 a0001c0002t0006 a0001c0003t0008 others(3): Show a0001c0001t0013 a0001c0002t0006 a0001c0003t0008 a0001c0003t0010 a0001c0009t0019 a0006c0013t0009	a0001c0001t0013g0056 a0001c0002t0006g0008 a0001c0003t0008g0032 others(3): Show a0001c0001t0013g0056 a0001c0002t0006g0008 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0009t0019g0039 a0006c0013t0009g0033	6	58	0.1034	-196	c.302 others(19): Show c.302+23374_302+23569del	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CANT1_chr17_78986716_79014764	79004744	GAGTTAGG others(189): Show GAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTAGGGAGAGGGGGGTT AGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGG GGATTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTA GGGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03041.hp2 HG01123.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0201 a0001c0002t0011g0217 a0001c0002t0011g0201 a0001c0002t0011g0217	2	392	0.0051	-196	c.-14 others(19): Show c.-147+4724_-147+4919del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CASZ1_chr1_10631604_10801646	10744535	TGGGCACC others(189): Show TGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTG GGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGG CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0034 a0010c0032t0034	a0010c0032t0034g0145 a0010c0032t0034g0145	1	234	0.0043	-196	c.-77 others(19): Show c.-77+15970_-77+16165del	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC6_chr10_59783747_59911556	59882142	GGGGAGAA others(189): Show GGGGAGAAGGAAAGGAAAGCCGGCGGGATGAAGGAATATGAAATGCCGGG GGGAGAAGGAAAGGTAAAGCCGCGGGGAGTAAGGAAAGGAAAGTCCGGGG TAGTAAGGAAAGGTAAAGCCGGGGGGATGAATGGAAAGGTAATGCTCGGC GGGAGAATGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	258	0.0039	-196	c.303 others(19): Show c.303+23784_303+23979del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882164	GCGGGATG others(189): Show GCGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCG CGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGG GGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCCG GGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0259 a0002c0002t0001g0259	1	285	0.0035	-196	c.303 others(19): Show c.303+23762_303+23957del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar

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