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
ADPRM_chr17_10692594_10716558	10700355	CAACTTTT others(115): Show CAACTTTTCAGTAATTAAGCATCCTTGGGTATGGGAGGCCTGAGGCAGGT GGATCACTTGAGCTCAGGAGCTTGAGACCAGCCTGGGCAACATGGCAAAA CCCTATTAGTATGATCTTGTAGT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0090 a0006c0006t0002g0090	1	402	0.0025	-122	c.-18 others(17): Show c.-18+2794_-18+2915del	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AK8_chr9_132720578_132883284	132822008	CATATATG others(115): Show CATATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATA CAAATATATACATATATGTGTATGTATATACAAATATATACATATATGTG TATGTATATACAAATATATACAT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	266	0.0038	-122	c.889 others(17): Show c.889+1075_889+1196del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ANKRD11_chr16_89262630_89495561	89398341	GACCTCAG others(115): Show GACCTCAGCACTCTAGGAGGCTGACATGAGGGACGCTGTGAAACAGATGA AGATTACCTGTGATCTCAGCACTCTGGGAGGCTGACAAGAGGGACACTGT GAAACAGCTGAAGATTACCTGTA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp1 NA19009.hp1 others(1): Show NA18950.hp2 NA18964.hp1 NA19009.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0109 a0003c0004t0001g0164 a0003c0004t0001g0170 others(1): Show a0003c0004t0001g0109 a0003c0004t0001g0164 a0003c0004t0001g0170 a0003c0004t0001g0171	4	310	0.0129	-122	c.-60 others(19): Show c.-60+19821_-60+19942del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO9_chr11_412938_447011	436775	GGGGTGAG others(115): Show GGGGTGAGCTGGGGGTGAGCTGGGGGTGAGCAGGAGGTGAGCAGAGGGTG AGCAGGGAGTGAGCTGGGGGTGAGCGGGGAGTGAGCTGGGGGTGAGCAGG GGGTGAGCAGGGGGTAAGCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	286	0.0035	-122	c.7-2 others(13): Show c.7-2799_7-2678del	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
ANXA2_chr15_60342151_60402986	60366820	GCCAGCCG others(115): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGACCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01981.hp1 others(9): Show HG00609.hp1 HG00642.hp2 HG01981.hp1 HG02735.hp1 HG02896.hp1 HG03471.hp2 HG03486.hp1 NA18612.hp2 NA18977.hp2 NA18979.hp1 NA18999.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0081 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0242 a0001c0001t0001g0280 a0001c0003t0001g0129 a0001c0003t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0323 a0005c0006t0001g0032	12	334	0.0359	-122	c.149 others(17): Show c.149-2419_149-2298del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144531654	ACAGGGCA others(115): Show ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGG	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	246	0.0041	-122	c.298 others(17): Show c.2980+529_2980+650del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATG4A_chrX_108086778_108159671	108143989	CAGGCTGA others(115): Show CAGGCTGATGGGGAACATGGTAAGACCAGTGAATTCCATGAGAATGAGCT CACTGCCACACTTTCTTAGCCATAAAGTGAGTGCCTTGGTCAGAGTCTGT GTGGGATACCATGATGTTGGATA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	249	0.0040	-122	c.814 others(17): Show c.814+5847_814+5968del	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP9B_chr18_79064394_79383283	79341279	TCTGTGTT others(115): Show TCTGTGTTGCCGACACACCATTTAGTTGTGGTTGGATGTGTGTAGCGTGA CCTCGTCGAAGTCTGTGTTGCCGACACACCATTTAGTTGTGGTTGGATGT GTGTAGCGTGACCTCGTTGAAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00609.hp2 others(100): Show HG00140.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0010 others(6): Show a0001c0001 a0001c0003 a0001c0010 a0001c0015 a0001c0025 a0001c0026 a0001c0038 a0002c0005 a0005c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0010t0001 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0002c0005t0001 a0002c0005t0004 a0005c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0010t0001g0296 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0002c0005t0001g0178 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0005t0001g0243 a0002c0005t0004g0184 a0005c0016t0001g0169 a0005c0016t0001g0171	103	298	0.3456	-122	c.228 others(17): Show c.2284-933_2284-812del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GALT1_chr2_167288001_167879045	167876017	ACGTATAT others(115): Show ACGTATATATATATATACGTATATATATATATATACGTATATATATATAT GTATATATATATATACGTATATATATATATGTATATATATATATATACAT ATATATATATATATTTATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0019 a0001c0001t0047g0019	1	118	0.0085	-122	c.59 others(11): Show c.5998_*6119del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1973		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	82975286	GAGGGCCC others(115): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01257.hp2 others(13): Show HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03041.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0002c0010t0007	a0001c0001t0001g0186 a0001c0001t0002g0178 a0001c0001t0004g0247 others(12): Show a0001c0001t0001g0186 a0001c0001t0002g0178 a0001c0001t0004g0247 a0001c0001t0005g0256 a0001c0001t0014g0248 a0001c0001t0017g0177 a0001c0002t0001g0089 a0001c0002t0001g0114 a0001c0003t0015g0198 a0001c0011t0001g0144 a0001c0011t0010g0146 a0001c0011t0010g0147 a0001c0011t0017g0145 a0002c0010t0007g0004 a0002c0010t0007g0216	16	266	0.0602	-122	c.460 others(17): Show c.460-9662_460-9541del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82975491	AACTCCAT others(115): Show AACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCG GGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAG TCAGGGCCCCGGGACAGAGCCGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	266	0.0038	-122	c.460 others(17): Show c.460-9867_460-9746del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82976331	GAGGGCCC others(115): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0034 a0001c0003t0015 a0001c0003t0034	a0001c0003t0015g0221 a0001c0003t0034g0197 a0001c0003t0015g0221 a0001c0003t0034g0197	2	266	0.0075	-122	c.460 others(19): Show c.460-10707_460-10586del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003139	TCGCCCTC others(115): Show TCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCT CCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTG TGGGATTCCTGAGCCCGCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0235 a0002c0005t0007g0235	1	266	0.0038	-122	c.459 others(17): Show c.459+1854_459+1975del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003718	CTCCGCAT others(115): Show CTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCCCACCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	266	0.0038	-122	c.459 others(17): Show c.459+1275_459+1396del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003797	GTCCGCGT others(115): Show GTCCGCGTGTGGGATTCCTGAGCCCACCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0204 a0001c0003t0009g0204	1	266	0.0038	-122	c.459 others(17): Show c.459+1196_459+1317del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004429	CTCCGCGT others(115): Show CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGA GCTCGCCCTCCCACTCTCTGCAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01516.hp1 others(2): Show HG00741.hp2 HG01081.hp1 HG01516.hp1 HG02004.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 a0001c0003t0009	a0001c0001t0001g0166 a0001c0001t0006g0153 a0001c0001t0006g0159 others(2): Show a0001c0001t0001g0166 a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0002t0006g0070 a0001c0003t0009g0202	5	266	0.0188	-122	c.459 others(15): Show c.459+564_459+685del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83038872	AAATATTA others(115): Show AAATATTAAAAGATGTTTATAGTAGTTTCAAAAACCAATTTGTTTACACA CATTACAGAAGCAAGTTGAAACAGATGTTCTACAATAATCAATTTATAAA GAGTTTTCTATTTCAAACCAACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(37): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02056.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03225.hp1 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0016 others(2): Show a0001c0004 a0001c0006 a0001c0016 a0002c0015 a0002c0022	a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 others(14): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0010 a0001c0006t0011 a0001c0006t0018 a0001c0006t0023 a0001c0006t0033 a0001c0016t0001 a0002c0015t0003 a0002c0022t0003	a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(36): Show a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0002g0050 a0001c0004t0010g0034 a0001c0004t0026g0046 a0001c0004t0031g0035 a0001c0006t0001g0016 a0001c0006t0001g0017 a0001c0006t0001g0022 a0001c0006t0002g0007 a0001c0006t0002g0024 a0001c0006t0002g0031 a0001c0006t0002g0040 a0001c0006t0006g0006 a0001c0006t0006g0038 a0001c0006t0008g0020 a0001c0006t0010g0010 a0001c0006t0011g0018 a0001c0006t0011g0027 a0001c0006t0018g0015 a0001c0006t0023g0030 a0001c0006t0033g0044 a0001c0016t0001g0008 a0001c0016t0001g0009 a0002c0015t0003g0023 a0002c0015t0003g0043 a0002c0022t0003g0029	40	266	0.1504	-122	c.233 others(17): Show c.233-3895_233-3774del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12			chr17	TogoVar
BCL11B_chr14_99164287_99277197	99168882	TCAACTTG others(115): Show TCAACTTGAGTCTAATCATTCCTAGCCAAGTGTATTTTCTTTTCAACTAC TTGTTCACAAGCTCAGTTGGATAGGAGAATCACCTGGATCATTTTCAAAA ATGCTGATACTGGGACCTGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	350	0.0029	-122	c.51 others(11): Show c.5147_*5268del	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding		404		chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96243350	TGGAATCT others(115): Show TGGAATCTGGAGAGCTAGAACCTGGAGGGCTAGAACCTGGAGGGCTAGAA CCTAGAAGGGCTAGAACCTGGAGGGCTAGAACCTGGCAGGTTAGAACCTA GAAGGGCTAGAACCTGGAGAGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0271 a0001c0001t0040g0271	1	436	0.0023	-122	c.18 others(11): Show c.1847_*1968del	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1847		chr14	TogoVar
BOK_chr2_241553745_241579131	241572986	CGGGAACA others(115): Show CGGGAACACCTGCTCTCACCTGAACCCCAGGTGAAGGGGCCCAGAACACC TGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACACCTGCTCTCACC TGAGCCCCAGGTGAAGGGGCCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02896.hp2 HG02965.hp1 others(4): Show HG02055.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG06807.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0012 a0001c0001t0048 a0001c0002t0012 others(1): Show a0001c0001t0012 a0001c0001t0048 a0001c0002t0012 a0001c0007t0045	a0001c0001t0012g0167 a0001c0001t0012g0185 a0001c0001t0012g0186 others(4): Show a0001c0001t0012g0167 a0001c0001t0012g0185 a0001c0001t0012g0186 a0001c0001t0012g0194 a0001c0001t0048g0091 a0001c0002t0012g0179 a0001c0007t0045g0109	7	434	0.0161	-122	c.56 others(9): Show c.567_*688del	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	567	INFO_REALIGN_3_PRIME	chr2	TogoVar
C2CD4C_chr19_400445_414147	404034	GGGGACGG others(115): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCC GAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0130 a0001c0002t0060g0130	1	322	0.0031	-122	c.29 others(11): Show c.2940_*3061del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1410		chr19	TogoVar
C7orf50_chr7_992006_1143247	1002930	GGGAGTCC others(115): Show GGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGG TGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCG GGTGGGGAGTCCTGTGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03516.hp2 others(1): Show HG02109.hp2 HG02970.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 others(1): Show a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174	4	326	0.0123	-122	c.324 others(17): Show c.324-2501_324-2380del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531654	ACAGGGCA others(115): Show ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	-122	c.-28 others(11): Show c.-2860_-2739del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2544		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49318483	AGGGAAAG others(115): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02004.hp1 HG02015.hp1 others(13): Show HG01261.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG03139.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 NA18942.hp1 NA18973.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0020 a0001c0002t0002 a0001c0002t0005 a0001c0002t0013	a0001c0001t0002g0067 a0001c0001t0002g0113 a0001c0001t0002g0212 others(13): Show a0001c0001t0002g0067 a0001c0001t0002g0113 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0004g0048 a0001c0001t0005g0059 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0213 a0001c0001t0005g0233 a0001c0001t0010g0056 a0001c0001t0020g0011 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0005g0201 a0001c0002t0013g0266	16	324	0.0494	-122	c.835 others(17): Show c.835-7612_835-7491del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CABCOCO1_chr10_61657929_61771766	61680589	ATATGTTA others(115): Show ATATGTTATACATGTATAACATGTTATACATAACATATACATGTTATACA TATATAATATATATTATGTTATACATGTATAACATATATGTTATACATGT ATAACATATATATGTTATACATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	374	0.0027	-122	c.165 others(15): Show c.165-550_165-429del	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121301180	TTTTTTTT others(115): Show TTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCTGCCTGGTCTC ACAGTTGCAATTCTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGCT GCCTGGTCTCACAGTTGCAATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0198 a0003c0003t0001g0198	1	330	0.0030	-122	c.-47 others(11): Show c.-4724_-4603del	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding		4472		chr12	TogoVar
CASP3_chr4_184622696_184654447	184652913	AGGGAAGG others(115): Show AGGGAAGGGAGAAAGGAAGGAAGGAAGAAGGGAAGGAAGGAAGGAAAGAA GGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAGGAAGAAGGGAAGGAAGGA AGGAAAGAAGGGAAAGAAGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp2 others(36): Show HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0020	a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0088 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0005g0014 a0001c0001t0005g0027 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0007g0013 a0001c0001t0007g0097 a0001c0001t0007g0104 a0001c0001t0012g0087 a0001c0001t0012g0096 a0001c0001t0020g0194	39	366	0.1066	-122	c.-38 others(11): Show c.-3823_-3702del	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3467		chr4	TogoVar
CCDC166_chr8_143701694_143713109	143711571	TGGGCCAG others(115): Show TGGGCCAGCCTCCCTCCTTTCACCGCCCTCCCCACAGCCCCGAAGCCGGG CCAGCTTCCGTCCTCCCCACCACAGCTGGGCCAGCCTCCCTCGTTTCACC GCCTGCCCCACCGCCCCAAAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	423	0.0024	-122	c.-35 others(11): Show c.-3584_-3463del	CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding		3463		chr8	TogoVar
CCDC85C_chr14_99495190_99609207	99520402	CCCCACTC others(115): Show CCCCACTCCTGGGGGCCTGCCCGCCGACCAGCCCCGATCACGGCCCCTGC ACCTCAGTTCATCCCATTCCTGGGGGCCTGCCCGCCGACCAGCCCCAATC ACGGCCCCTGCACCTCAGTTCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(128): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0003c0011 a0003c0017 a0007c0012 a0008c0020 a0011c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0072 a0001c0001t0087 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0034 a0001c0002t0037 a0001c0002t0047 a0001c0002t0048 a0001c0002t0056 a0001c0002t0057 a0001c0002t0067 a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0013 a0001c0003t0019 a0001c0003t0062 a0001c0003t0066 a0001c0005t0001 a0001c0005t0065 a0001c0008t0001 a0003c0011t0001 a0003c0017t0001 a0007c0012t0049 a0008c0020t0001 a0011c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0001t0001g0071 others(127): Show a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0002g0097 a0001c0001t0005g0073 a0001c0001t0005g0175 a0001c0001t0010g0070 a0001c0001t0012g0086 a0001c0001t0012g0167 a0001c0001t0015g0085 a0001c0001t0015g0162 a0001c0001t0016g0087 a0001c0001t0016g0160 a0001c0001t0017g0068 a0001c0001t0017g0165 a0001c0001t0017g0173 a0001c0001t0024g0111 a0001c0001t0024g0211 a0001c0001t0025g0213 a0001c0001t0025g0216 a0001c0001t0027g0108 a0001c0001t0028g0093 a0001c0001t0029g0099 a0001c0001t0029g0100 a0001c0001t0038g0188 a0001c0001t0044g0116 a0001c0001t0045g0203 a0001c0001t0046g0217 a0001c0001t0051g0194 a0001c0001t0052g0145 a0001c0001t0054g0109 a0001c0001t0055g0105 a0001c0001t0058g0156 a0001c0001t0059g0095 a0001c0001t0061g0114 a0001c0001t0064g0117 a0001c0001t0072g0179 a0001c0001t0087g0199 a0001c0002t0001g0226 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0294 a0001c0002t0005g0221 a0001c0002t0005g0228 a0001c0002t0009g0293 a0001c0002t0012g0292 a0001c0002t0015g0285 a0001c0002t0016g0271 a0001c0002t0026g0276 a0001c0002t0026g0279 a0001c0002t0027g0251 a0001c0002t0028g0229 a0001c0002t0034g0246 a0001c0002t0037g0244 a0001c0002t0047g0231 a0001c0002t0048g0255 a0001c0002t0056g0256 a0001c0002t0057g0243 a0001c0002t0067g0248 a0001c0003t0001g0040 a0001c0003t0001g0043 a0001c0003t0001g0045 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0005g0014 a0001c0003t0005g0023 a0001c0003t0005g0025 a0001c0003t0005g0027 a0001c0003t0005g0046 a0001c0003t0010g0041 a0001c0003t0010g0042 a0001c0003t0013g0017 a0001c0003t0013g0018 a0001c0003t0013g0028 a0001c0003t0019g0029 a0001c0003t0019g0030 a0001c0003t0019g0031 a0001c0003t0062g0024 a0001c0003t0066g0055 a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0065g0007 a0001c0008t0001g0011 a0003c0011t0001g0121 a0003c0017t0001g0263 a0007c0012t0049g0218 a0008c0020t0001g0297 a0011c0018t0001g0295	131	300	0.4367	-122	c.975 others(17): Show c.975+1609_975+1730del	CCDC85C	ENSG00000205476.9	transcript	ENST00000380243.9	protein_coding	3/5			chr14	TogoVar
CDH15_chr16_89166748_89200492	89188403	CATGCCGG others(115): Show CATGCCGGCACACACAGATGCCCACACACAGATGCCGGCACACACACATG CCGGCACACACAGATGCCCACACACAGATGCCGGCACACACAGATGCCGG CACACACAGATGCCCACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	406	0.0025	-122	c.978 others(15): Show c.978+200_978+321del	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CERCAM_chr9_128415857_128442347	128437888	CACATACA others(115): Show CACATACACGTATATACACGTATATACACATACACGTATATACACGTATA TACACACACGTATATACACGTATATACACACACGTATATACACGTATATA CACACACGTATATACACGTATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0110 a0016c0026t0001g0110	1	400	0.0025	-122	c.10 others(11): Show c.1041_*1162del	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		542		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132820765	CTGTGTGT others(115): Show CTGTGTGTGCGCTGATGCGTGCTGTGTGAGCACTGATGTGTGCTGTGTGT GCTGATGTGTGCTGAGTGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGC TGTGTGTGCTGATGTGTGCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG00733.hp2 HG02109.hp2	a0031 a0044 a0031 a0044	a0031c0107 a0044c0108 a0031c0107 a0044c0108	a0031c0107t0002 a0044c0108t0002 a0031c0107t0002 a0044c0108t0002	a0031c0107t0002g0022 a0044c0108t0002g0018 a0031c0107t0002g0022 a0044c0108t0002g0018	2	246	0.0081	-122	c.711 others(19): Show c.7118-5973_7118-5852del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132837672	CGGACACA others(115): Show CGGACACACATGCACACGTACACAGATGCACACACACAGACATGCACGGA CACACACATGCACACGTACACAGATGCGCACGGACACACACGCACACGTA CACAGATGCACACAGACATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03130.hp2 others(1): Show HG02055.hp2 HG02258.hp2 HG03130.hp2 NA20300.hp1	a0008 a0009 a0023 a0008 a0009 a0023	a0008c0009 a0009c0018 a0023c0106 a0008c0009 a0009c0018 a0023c0106	a0008c0009t0001 a0009c0018t0001 a0023c0106t0002 a0008c0009t0001 a0009c0018t0001 a0023c0106t0002	a0008c0009t0001g0122 a0008c0009t0001g0124 a0009c0018t0001g0228 others(1): Show a0008c0009t0001g0122 a0008c0009t0001g0124 a0009c0018t0001g0228 a0023c0106t0002g0019	4	246	0.0163	-122	c.643 others(17): Show c.6439-880_6439-759del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFHR5_chr1_196972556_197014678	196992244	ACTAAGAC others(115): Show ACTAAGACCACTGGAAAAGTGCAGTATTTGTGTGTGAGTGTCCCGATTTT CCAGGTACAGTCTGTCACGGGTTTCCTTGGCTAGGAAAGGGAAATCCCCC AACCCCTTGCACTTCTATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	356	0.0028	-122	c.431 others(17): Show c.431-1769_431-1648del	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGAS_chr6_73418711_73457297	73433511	ACGGAGTC others(115): Show ACGGAGTCTCTCTCTGTCACCAGGCTGGAGTGCAATGGCGTGATCTTGGC TCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCT CCCGAGTAGCTAGGACTACAGGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0126 a0001c0002t0053g0126	1	410	0.0024	-122	c.111 others(19): Show c.1115-4822_1115-4701del	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	3/4			chr6	TogoVar
CNGA1_chr4_47930977_48021681	47976159	ATATATAT others(115): Show ATATATATATATACACATACATATATATATACATATATATGTATATATAT ATATACACATACATATATATATACATATATATGTATATATATATACACAT ACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG02055.hp1 others(12): Show HG01167.hp2 HG01891.hp1 HG02055.hp1 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp1 NA18522.hp1 NA18942.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0102 a0001c0001t0002g0196 a0002c0002t0002g0125 others(12): Show a0001c0001t0002g0102 a0001c0001t0002g0196 a0002c0002t0002g0125 a0002c0002t0002g0128 a0002c0002t0002g0140 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0169 a0002c0002t0002g0174 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0200	15	366	0.0410	-122	c.-15 others(17): Show c.-15+5112_-15+5233del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNGA1_chr4_47930977_48021681	47976172	CACATACA others(115): Show CACATACATATATATATACATATATATGTATATATATATATACACATACA TATATATATACATATATATGTATATATATATACACATACATATATATATA CATATATATGTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG03098.hp2 others(1): Show HG02145.hp1 HG02451.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 others(1): Show a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0003g0078	4	366	0.0109	-122	c.-15 others(17): Show c.-15+5099_-15+5220del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNGA1_chr4_47930977_48021681	47976218	TACATATA others(115): Show TACATATATATATACATATATATGTATATATATATACACATACATATATA TATACATATATATGTATATATATATATACACATACATATATATATACATA TATATGTATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18612.hp2 NA18944.hp2 others(12): Show HG00423.hp2 NA18612.hp2 NA18944.hp2 NA18948.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18989.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19064.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0127 a0002c0002t0002g0134 others(11): Show a0002c0002t0002g0006 a0002c0002t0002g0127 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0172 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0192	15	366	0.0410	-122	c.-15 others(17): Show c.-15+5053_-15+5174del	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNTN6_chr3_1088024_1409217	1158757	TATATATA others(115): Show TATATATACACACATATATATGTGTGTATATATGTGTATATATATACACA CATATATATACACACACATATATATACACACACATATATATACATACATA TATATACACACATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	232	0.0043	-122	c.55+ others(17): Show c.55+10715_55+10836del	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE7_chr16_89570758_89602246	89570771	CAGGTGAG others(115): Show CAGGTGAGCAGGCACGGGAGGAGGTGAGCGGGCACGGGAGGAGGTGAGCG GGGCACGGGAAGAGGTGAGCGGGGCACGGGAGCAGGTGAGCGGGGACGGG AGGAGGTGAGCAGGCACGGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0325 a0001c0002t0004g0325	1	348	0.0029	-122	c.-51 others(11): Show c.-5126_-5005del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4986		chr16	TogoVar
CSNK1G2_chr19_1936172_1986338	1967699	CACCACCC others(115): Show CACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCCC AGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCT CCCTCCTCCCCAGGCTGCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01099.hp2 others(17): Show HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01361.hp1 HG02055.hp1 HG02071.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03688.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0003c0013	a0001c0001t0001 a0001c0001t0026 a0001c0002t0009 others(2): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0009 a0001c0012t0002 a0003c0013t0002	a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 others(17): Show a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0370 a0001c0001t0026g0365 a0001c0002t0009g0347 a0001c0002t0009g0348 a0001c0012t0002g0332 a0003c0013t0002g0314	20	382	0.0524	-122	c.-26 others(19): Show c.-265-1775_-265-1654del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967742	CCTCCCCA others(115): Show CCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCT CCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAG GTGGGGCTCCTCCCTCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03927.hp2 HG03942.hp2 HG01074.hp1 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0163 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0163	3	382	0.0079	-122	c.-26 others(19): Show c.-265-1714_-265-1593del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968077	GCTCCTCC others(115): Show GCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTT CTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCTGACCACCCTTCAGTTCTG CAGGTGGGGCTCCTCCCTCCTCC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01192.hp2 others(20): Show HG01070.hp2 HG01071.hp2 HG01192.hp2 HG01361.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0003c0013	a0001c0001t0001 a0001c0001t0026 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0002 a0001c0002t0009 a0001c0012t0002 a0003c0013t0002	a0001c0001t0001g0184 a0001c0001t0001g0264 a0001c0001t0001g0265 others(20): Show a0001c0001t0001g0184 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0301 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0351 a0001c0001t0001g0353 a0001c0001t0001g0370 a0001c0001t0026g0365 a0001c0002t0002g0190 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0009g0347 a0001c0002t0009g0348 a0001c0012t0002g0332 a0003c0013t0002g0314	23	382	0.0602	-122	c.-26 others(19): Show c.-265-1422_-265-1301del	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CUL4A_chr13_113204613_113272108	113232068	TCACCACT others(115): Show TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01257.hp1 others(7): Show HG01081.hp2 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG03669.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0005t0017	a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0001g0242 others(7): Show a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0341 a0001c0001t0003g0182 a0001c0001t0012g0189 a0001c0005t0017g0104	10	396	0.0253	-122	c.513 others(16): Show c.513-1080_513-959del	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYFIP1_chr15_22862052_22985368	22890630	AGAACAGA others(115): Show AGAACAGAGACAGGGTGGAGGGGCACAGCGGAGGCCGCACCTGCCAACAG CCTCGAGAACACGAACAGAGACAGGGTGGAGGGGCACAGCGGAGGCCGCA CCTGCCAACAGCCTCGAGAACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp1 others(30): Show HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01496.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03491.hp2 HG03654.hp1 HG03710.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18953.hp2 NA18962.hp2 NA18963.hp2 NA18980.hp2 NA18993.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19010.hp1 NA19063.hp1 NA19077.hp2 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0003 a0002c0009 a0007c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0043 a0001c0005t0003 a0001c0005t0011 a0001c0012t0003 a0001c0012t0045 a0002c0003t0011 a0002c0009t0011 a0007c0035t0001	a0001c0001t0001g0068 a0001c0001t0001g0259 a0001c0001t0001g0307 others(30): Show a0001c0001t0001g0068 a0001c0001t0001g0259 a0001c0001t0001g0307 a0001c0001t0002g0187 a0001c0001t0002g0274 a0001c0001t0003g0015 a0001c0001t0003g0036 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0206 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0321 a0001c0001t0003g0336 a0001c0001t0003g0339 a0001c0001t0003g0341 a0001c0001t0011g0193 a0001c0001t0011g0226 a0001c0002t0002g0324 a0001c0002t0003g0030 a0001c0002t0003g0149 a0001c0002t0003g0210 a0001c0002t0003g0284 a0001c0002t0003g0327 a0001c0002t0043g0128 a0001c0005t0003g0117 a0001c0005t0011g0283 a0001c0012t0003g0016 a0001c0012t0045g0175 a0002c0003t0011g0213 a0002c0003t0011g0239 a0002c0009t0011g0070 a0007c0035t0001g0181	33	342	0.0965	-122	c.267 others(19): Show c.2676+2138_2676+2259del	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	23/30			chr15	TogoVar
CYTH1_chr17_78669048_78787273	78760385	ACACACAC others(115): Show ACACACACATACATATATATATGTGTATATATATATATATACACATACAT ATATATATGTATATATATATACATACATATATATATGTATATATATGTAT GTATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04204.hp2 NA19058.hp1 others(3): Show HG02738.hp2 HG04204.hp2 NA19058.hp1 NA19080.hp2 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0248 a0001c0001t0002g0266 a0001c0001t0002g0290 others(3): Show a0001c0001t0002g0248 a0001c0001t0002g0266 a0001c0001t0002g0290 a0001c0001t0003g0378 a0001c0001t0005g0018 a0001c0001t0005g0035	6	378	0.0159	-122	c.22+ others(17): Show c.22+21695_22+21816del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAGLB_chr7_6404129_6452954	6411033	CGCCACCG others(115): Show CGCCACCGCACCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTC ACCGTGGTCTCTATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	380	0.0026	-122	c.157 others(17): Show c.1570-775_1570-654del	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	13/14			chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90008472	CCAGGACT others(115): Show CCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGT CCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGC CTCAGCCCACCACGCACACCTCT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19070.hp1 NA18995.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	2	412	0.0049	-122	c.319 others(15): Show c.319+190_319+311del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DEFB124_chr20_31460471_31480127	31470438	CCCACCTC others(115): Show CCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACTTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	362	0.0028	-122	c.58+ others(15): Show c.58+2396_58+2517del	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DLC1_chr8_13078361_13519851	13453393	TATATATA others(115): Show TATATATATGTGTATATATATATATATATATGTGTATATATATATGTATA TATATACATATATATATGTATATATATACATATATATGTATATATATACA TATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02895.hp1 others(3): Show HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG03139.hp1 HG03195.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0009	a0002c0002 a0005c0008 a0006c0007 others(3): Show a0002c0002 a0005c0008 a0006c0007 a0006c0017 a0009c0013 a0009c0018	a0002c0002t0010 a0005c0008t0009 a0006c0007t0017 others(3): Show a0002c0002t0010 a0005c0008t0009 a0006c0007t0017 a0006c0017t0011 a0009c0013t0043 a0009c0018t0019	a0002c0002t0010g0013 a0005c0008t0009g0167 a0006c0007t0017g0028 others(3): Show a0002c0002t0010g0013 a0005c0008t0009g0167 a0006c0007t0017g0028 a0006c0017t0011g0033 a0009c0013t0043g0037 a0009c0018t0019g0035	6	212	0.0283	-122	c.102 others(21): Show c.1023+45534_1023+45655del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar

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