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
SLC25A18_chr22_17558498_17595995	17561385	GCCACCCC others(118): Show GCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02723.hp2 others(7): Show HG01255.hp2 HG02451.hp1 HG02723.hp2 HG02809.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0299 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0299 a0001c0001t0001g0387 a0001c0001t0002g0019 a0001c0001t0002g0388 a0001c0001t0002g0391 a0001c0001t0003g0382 a0001c0001t0003g0389 a0001c0001t0011g0390	10	410	0.0244	-125	c.-25 others(11): Show c.-2591_-2467del	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding		2112		chr22	TogoVar
SLC39A14_chr8_22362278_22427736	22396422	GAGAGAGA others(118): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGGGGGGGGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01106.hp1 HG01978.hp1 others(1): Show HG00621.hp1 HG01106.hp1 HG01978.hp1 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0003 a0001c0004t0002 a0001c0005t0003	a0001c0004t0002g0202 a0001c0005t0003g0154 a0001c0005t0003g0164 others(1): Show a0001c0004t0002g0202 a0001c0005t0003g0154 a0001c0005t0003g0164 a0001c0005t0003g0167	4	324	0.0124	-125	c.-15 others(17): Show c.-15-8273_-15-8149del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396423	AGAGAGAG others(118): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGGGGGGGGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0199 a0001c0004t0002g0199	1	324	0.0031	-125	c.-15 others(17): Show c.-15-8272_-15-8148del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396425	AGAGAGAG others(118): Show AGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGGGGGGGGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 NA18944.hp2 HG00423.hp2 HG01069.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0002 a0001c0004 a0001c0005 a0002c0002	a0001c0004t0002 a0001c0005t0003 a0002c0002t0002 a0001c0004t0002 a0001c0005t0003 a0002c0002t0002	a0001c0004t0002g0198 a0001c0005t0003g0147 a0002c0002t0002g0188 a0001c0004t0002g0198 a0001c0005t0003g0147 a0002c0002t0002g0188	3	324	0.0093	-125	c.-15 others(17): Show c.-15-8270_-15-8146del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLC39A14_chr8_22362278_22427736	22396427	AGAGAGAG others(118): Show AGAGAGAGAGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGGGGGGGGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0036 a0001c0005t0006g0036	1	324	0.0031	-125	c.-15 others(17): Show c.-15-8268_-15-8144del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SMYD3_chr1_245744347_246512279	246388443	TGGGGACC others(118): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCGAGGTTGAAGTCAGTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	150	0.0067	-125	c.165 others(19): Show c.165-33474_165-33350del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388722	CTTGAAAA others(118): Show CTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAG AAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGG ACCTCCTTGTAGAAAGCATTCATTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	150	0.0067	-125	c.165 others(19): Show c.165-33753_165-33629del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414926	CACACACA others(118): Show CACACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATA TAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACAC ATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG01261.hp1 others(19): Show HG00140.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp1 HG02300.hp2 HG02622.hp2 HG03831.hp1 HG04115.hp2 HG04228.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18987.hp1 NA18994.hp2 NA19012.hp1 NA19068.hp1 NA19085.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0163 others(19): Show a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0258 a0003c0003t0001g0055 a0003c0003t0001g0058 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0114 a0003c0003t0001g0122 a0003c0003t0001g0306 a0003c0003t0001g0307 a0003c0003t0001g0311	22	358	0.0615	-125	c.233 others(19): Show c.2334-1758_2334-1634del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
STAC_chr3_36375504_36553007	36398434	AGGAAGGA others(118): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAG GAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAAAGAGAGAGAAAGAAAG AAAGAGAGGTAAAGAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03017.hp2 others(10): Show HG02109.hp1 HG02615.hp1 HG03017.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp2 NA18942.hp2 NA18949.hp1 NA18954.hp2 NA18977.hp1 NA18992.hp2 NA19057.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0005 a0001c0002t0003g0010 a0001c0002t0003g0012 others(10): Show a0001c0002t0003g0005 a0001c0002t0003g0010 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0028 a0001c0002t0003g0039 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0005g0044	13	316	0.0411	-125	c.111 others(19): Show c.111+17722_111+17846del	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STK32B_chr4_5046480_5505989	5316388	AATATATT others(118): Show AATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAATATATATTACATATATAATATATAA TATATATTACATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03669.hp1 HG03831.hp2 others(1): Show HG02451.hp2 HG03669.hp1 HG03831.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0147 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0147 a0001c0001t0001g0169	4	170	0.0235	-125	c.261 others(19): Show c.261-14733_261-14609del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5316536	AATATATA others(118): Show AATATATATTACATATATAATATATAATATATATTACATATATAATATAT AATATATATTACATATATAATATATATTATATATTATATATATAATATAT AATATATTATATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01515.hp1 HG01517.hp1 HG01074.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0095 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0095	3	170	0.0177	-125	c.261 others(19): Show c.261-14677_261-14553del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMCC1_chr3_129642792_129898711	129818401	TAAGAAAC others(118): Show TAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTAAAGAAACTTTTAAAGAAAAGTTTT AAAGAAACTTTTAAAGAAAAGTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(60): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01981.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG03491.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18962.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0002t0005 a0001c0004t0003 a0002c0003t0020 a0003c0006t0006	a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0067 others(60): Show a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0216 a0001c0001t0001g0257 a0001c0001t0002g0108 a0001c0001t0002g0224 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0006g0006 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0013 a0001c0001t0008g0156 a0001c0001t0010g0061 a0001c0001t0011g0003 a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0024g0038 a0001c0001t0025g0195 a0001c0001t0026g0228 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0187 a0001c0004t0003g0231 a0002c0003t0020g0152 a0003c0006t0006g0009	63	258	0.2442	-125	c.576 others(17): Show c.576+9277_576+9401del	TMCC1	ENSG00000172765.19	transcript	ENST00000393238.8	protein_coding	4/6			chr3	TogoVar
TPO_chr2_1408463_1548673	1432599	TGAGGCCT others(118): Show TGAGGCCTGCAGGTGAGGGGAGGCCTGCAGGTGAGGGGAGGCCTGCAGGT GAGGAGAGGCCTGCAGGTGGGGTGAGGCCTGCAGGTGGGGTGAGGCCTGC AGGTGAGGTGAGGCCCCAGGTAAGGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp1 NA19043.hp1 HG01167.hp2 HG02572.hp1 NA19043.hp1	a0008 a0008	a0008c0011 a0008c0016 a0008c0011 a0008c0016	a0008c0011t0006 a0008c0016t0003 a0008c0011t0006 a0008c0016t0003	a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020 a0008c0011t0006g0048 a0008c0011t0006g0092 a0008c0016t0003g0020	3	130	0.0231	-125	c.180 others(15): Show c.180-803_180-679del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC9_chr8_139722725_140462744	140157001	CTTTTCCA others(118): Show CTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGC CTCCCTTTCCATTCAGAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	98	0.0102	-125	c.255 others(21): Show c.2556+64333_2556+64457del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(118): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0030 a0010c0018t0030	a0010c0018t0030g0146 a0010c0018t0030g0146	1	180	0.0056	-125	c.188 others(17): Show c.1884+761_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TSPAN9_chr12_3072379_3291559	3095507	CCCCCCAC others(118): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACG GGGCGGCTGGCCGGGCGGAGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19240.hp2 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0062 a0001c0002t0018 a0001c0002t0062	a0001c0002t0018g0060 a0001c0002t0062g0090 a0001c0002t0018g0060 a0001c0002t0062g0090	2	288	0.0069	-125	c.-18 others(19): Show c.-18+11794_-18+11918del	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TYMS_chr18_652653_678578	667155	TGATGGAG others(118): Show TGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	482	0.0021	-125	c.455 others(17): Show c.455-1911_455-1787del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC93A_chr6_167286315_167321014	167295489	GCCTCCCT others(118): Show GCCTCCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTGCT CCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTGCCTCG TGCTCCTCGCCTCCCTCGTGCTCCTC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18990.hp2 HG01978.hp2 NA18990.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0001c0001t0001 a0010c0014t0001	a0001c0001t0001g0329 a0010c0014t0001g0327 a0001c0001t0001g0329 a0010c0014t0001g0327	2	448	0.0045	-125	c.270 others(15): Show c.270-542_270-418del	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
ZNF592_chr15_84743592_84811445	84744897	TAGCCAGA others(118): Show TAGCCAGAGAAGCAAGGCCCAACTTTCAGTCTGTAAACAGCTGTAATGCA AAGACTGCTGCCCCTAACTCATTGCTCTGAGTCAATTAGATGTCCAAATA TTAGGACTGATGGGTTGAGACCTCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02602.hp2 HG01257.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0002 a0001c0001t0002 a0001c0016t0002	a0001c0001t0002g0062 a0001c0016t0002g0084 a0001c0001t0002g0062 a0001c0016t0002g0084	2	370	0.0054	-125	c.-40 others(11): Show c.-4025_-3901del	ZNF592	ENSG00000166716.10	transcript	ENST00000560079.7	protein_coding		3694		chr15	TogoVar
ZNF713_chr7_55882456_55947225	55887720	GGCGGGGG others(118): Show GGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCG GAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGGGCGGCGG GCGGCGGGCGGCGGGCGGCGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp1 HG01981.hp1 others(10): Show HG00544.hp1 HG01943.hp1 HG01981.hp1 NA18939.hp1 NA18963.hp2 NA18975.hp2 NA18993.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19080.hp2 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0077 a0001c0001t0009 a0001c0001t0077	a0001c0001t0009g0135 a0001c0001t0009g0136 a0001c0001t0009g0137 others(10): Show a0001c0001t0009g0135 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0009g0146 a0001c0001t0077g0134	13	410	0.0317	-125	c.-58 others(16): Show c.-583+42_-583+166del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCG1_chr21_42214140_42302244	42283629	GCCTGCCT others(117): Show GCCTGCCTGGACAGTTGTGAAGTCCCCCCCCACCCAAATGAGTGGGGAAC CCCCACCTCTTTCCCACCTGGACAGTTGTGAAGTACCACCCACCACCCAG ATGAGTGGGGACCCCCCACCTCTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03540.hp2 HG01891.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0102 a0001c0001t0004g0103	2	354	0.0057	-124	c.735 others(15): Show c.735-908_735-785del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAMTS3_chr4_72275969_72574221	72400319	TGTGTGTA others(117): Show TGTGTGTATATATACACACGGTGTGTATATATACGTGTGCATAGATATGC ACACGGTGTGTATATATACGTGTGCATAGATATGCACACGGTGTGTATAT ATACGTGTGCATAGATATGCACACG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0088 a0005c0013t0001g0088	1	182	0.0055	-124	c.661 others(19): Show c.661+14372_661+14495del	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
AHRR_chr5_316714_443285	345149	TGTGTCGG others(117): Show TGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATG TGTGTGTGGGGAGAGGGGTGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03225.hp1 others(1): Show HG02896.hp2 HG02897.hp2 HG03225.hp1 NA20129.hp2	a0004 a0014 a0004 a0014	a0004c0003 a0014c0012 a0004c0003 a0014c0012	a0004c0003t0014 a0004c0003t0034 a0014c0012t0020 a0004c0003t0014 a0004c0003t0034 a0014c0012t0020	a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0034g0229 others(1): Show a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0034g0229 a0014c0012t0020g0239	4	268	0.0149	-124	c.62+ others(15): Show c.62+1190_62+1313del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356493	TCACGGAG others(117): Show TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGT GGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGA GCGCCCGCGAGTGGAGGCCCTCAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0035 a0007c0007t0035	a0007c0007t0035g0222 a0007c0007t0035g0222	1	268	0.0037	-124	c.244 others(17): Show c.244+2627_244+2750del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356538	GGAGTGGA others(117): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01109.hp1 others(8): Show HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG02683.hp2 HG04204.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0006 a0002c0002t0019 others(3): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0019g0007 others(6): Show a0002c0002t0001g0010 a0002c0002t0006g0008 a0002c0002t0019g0007 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0005 a0003c0004t0004g0011 a0003c0004t0012g0001 a0003c0004t0028g0006	11	268	0.0410	-124	c.244 others(17): Show c.244+2689_244+2812del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356662	CGAGTGGA others(117): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0264 a0001c0001t0017g0264	1	268	0.0037	-124	c.244 others(17): Show c.244+2875_244+2998del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356786	GGAGTGGA others(117): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0013 a0001c0009t0055 a0001c0001t0013 a0001c0009t0055	a0001c0001t0013g0254 a0001c0009t0055g0104 a0001c0001t0013g0254 a0001c0009t0055g0104	2	268	0.0075	-124	c.244 others(17): Show c.244+3309_244+3432del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357220	GGAGTGGA others(117): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03225.hp2 others(2): Show HG02895.hp2 HG02897.hp1 HG03225.hp2 HG03486.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 a0005c0005t0038	a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0042 others(2): Show a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0042 a0001c0001t0046g0252 a0005c0005t0038g0024	5	268	0.0187	-124	c.244 others(17): Show c.244+3433_244+3556del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357454	AGGAAGAG others(117): Show AGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGA GTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18951.hp1 HG00099.hp2 NA18951.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0003 a0008c0016t0015 a0001c0001t0003 a0008c0016t0015	a0001c0001t0003g0103 a0008c0016t0015g0189 a0001c0001t0003g0103 a0008c0016t0015g0189	2	268	0.0075	-124	c.244 others(17): Show c.244+3605_244+3728del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357516	GGGAAGAG others(117): Show GGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGA	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0213 a0002c0002t0011g0213	1	268	0.0037	-124	c.244 others(17): Show c.244+3636_244+3759del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357666	CTCAGTCA others(117): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0035 a0007c0007t0035	a0007c0007t0035g0222 a0007c0007t0035g0222	1	268	0.0037	-124	c.244 others(17): Show c.244+3791_244+3914del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357857	TCACGGAG others(117): Show TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGT GGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGA GCGCCCGCGAGTGGAGGCCCTCAGA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	268	0.0037	-124	c.244 others(17): Show c.244+3977_244+4100del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358322	AGGAAGAG others(117): Show AGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGA GTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19000.hp2 NA18960.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0011 a0002c0002t0006 a0002c0002t0011	a0002c0002t0006g0209 a0002c0002t0011g0022 a0002c0002t0006g0209 a0002c0002t0011g0022	2	268	0.0075	-124	c.244 others(17): Show c.244+4473_244+4596del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358647	AAGTGGAG others(117): Show AAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGG AAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGT CAGCGACTGAGGAAGAGCGCCCGCG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0213 a0002c0002t0011g0213	1	268	0.0037	-124	c.244 others(17): Show c.244+4783_244+4906del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358770	CGAGTGGA others(117): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03225.hp2 others(3): Show HG02895.hp2 HG02897.hp1 HG03225.hp2 HG03486.hp2 HG03669.hp1 NA18983.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0046 a0001c0001t0060 a0005c0005t0038	a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0063 others(3): Show a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0063 a0001c0001t0046g0252 a0001c0001t0060g0261 a0005c0005t0038g0024	6	268	0.0224	-124	c.244 others(17): Show c.244+4921_244+5044del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358880	GGGAAGAG others(117): Show GGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0039 a0005c0005t0039	a0005c0005t0039g0250 a0005c0005t0039g0250	1	268	0.0037	-124	c.244 others(17): Show c.244+4983_244+5106del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639141	CGGAGTTG others(117): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTT GCGCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp2 HG00609.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0166 a0001c0001t0005g0170	2	324	0.0062	-124	c.637 others(17): Show c.637+1007_637+1130del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639319	GGGTGACG others(117): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGGGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0204 a0001c0001t0068g0204	1	324	0.0031	-124	c.637 others(17): Show c.637+1159_637+1282del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639412	GGGTGACG others(117): Show GGGTGACGCGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGCGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0268 a0001c0006t0003g0268	1	324	0.0031	-124	c.637 others(17): Show c.637+1252_637+1375del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639420	CGGGGTTG others(117): Show CGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTT GCGCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	324	0.0031	-124	c.637 others(17): Show c.637+1255_637+1378del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639753	GGGTGACG others(117): Show GGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGCGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03942.hp2 HG01192.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0002 a0001c0001t0004 a0001c0004t0002	a0001c0001t0004g0081 a0001c0004t0002g0258 a0001c0001t0004g0081 a0001c0004t0002g0258	2	324	0.0062	-124	c.637 others(17): Show c.637+1596_637+1719del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639877	CGGTGACG others(117): Show CGGTGACGTGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0038 a0001c0001t0057g0038	1	324	0.0031	-124	c.637 others(17): Show c.637+1725_637+1848del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD6_chr6_89428152_89638821	89607815	TTTTTCCA others(117): Show TTTTTCCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGT CTTGAACTCCTGACCCCGTGATCTGCCCGCCTCAGCCTCCTAAGTATCTG GGCATGTGCCCCCACGCCTGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02145.hp1 others(7): Show HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02572.hp2 HG02717.hp2 HG02895.hp2 HG03041.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0008 a0003c0013 a0003c0015 others(1): Show a0003c0008 a0003c0013 a0003c0015 a0007c0012	a0003c0008t0005 a0003c0013t0001 a0003c0015t0002 others(1): Show a0003c0008t0005 a0003c0013t0001 a0003c0015t0002 a0007c0012t0006	a0003c0008t0005g0187 a0003c0008t0005g0188 a0003c0013t0001g0139 others(7): Show a0003c0008t0005g0187 a0003c0008t0005g0188 a0003c0013t0001g0139 a0003c0013t0001g0167 a0003c0013t0001g0168 a0003c0015t0002g0109 a0007c0012t0006g0105 a0007c0012t0006g0106 a0007c0012t0006g0107 a0007c0012t0006g0108	10	270	0.0370	-124	c.417 others(17): Show c.417+1715_417+1838del	ANKRD6	ENSG00000135299.18	transcript	ENST00000339746.9	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO2_chr12_5557655_5950259	5902706	GGGGAGGA others(117): Show GGGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAG GGGAGGGGAGGGGAAGGGAGGGGAGGAGAGGGGAGGGGATGGGATGGGAT GGGAAGGGAGGGGAGGGGATGGGAT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	162	0.0062	-124	c.534 others(19): Show c.534+18210_534+18333del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ANXA2_chr15_60342151_60402986	60366816	GTCGGCCA others(117): Show GTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGACCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(31): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02886.hp2 HG02922.hp1 HG03490.hp1 NA18957.hp1 NA18957.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0065 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0149 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0003g0111 a0001c0003t0001g0097 a0001c0003t0001g0282 a0001c0003t0002g0328 a0001c0003t0002g0329 a0002c0002t0001g0017 a0002c0002t0001g0308 a0002c0002t0001g0312 a0002c0002t0001g0315	34	334	0.1018	-124	c.149 others(17): Show c.149-2417_149-2294del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ARHGAP26_chr5_142765377_143234007	143086322	GGGGAAAT others(117): Show GGGGAAATAAACTTGGGCCTCCATCTTTATTTTTAGAGTCTTATACAAGC AACTTTTGCCAGCACACTTGGTTGGGTTCCTGAAGAGATGAGAAAGTAAG AAGTTGCTTCAACGAGCCATAAATT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0099 a0001c0001t0006g0095 a0001c0001t0004g0099 a0001c0001t0006g0095	2	198	0.0101	-124	c.153 others(21): Show c.1538+28592_1538+28715del	ARHGAP26	ENSG00000145819.18	transcript	ENST00000645722.2	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111221205	AGATATAT others(117): Show AGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATATAGATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	274	0.0037	-124	c.670 others(17): Show c.670+3326_670+3449del	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21			chr13	TogoVar
ARID4B_chr1_235161902_235333179	235294405	CGGGTTCA others(117): Show CGGGTTCAAGCAATTCTCCCGCTTGAACCCAGGGGTTCAAGCAATTCTCC CGCTTGAACCCAGGGGTTCAAGCAATTCTCCCGCTTGAACCCAGGGGTTC AAGCAATTCTCCCGCTTGAACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(13): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01981.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 NA18906.hp1 NA19089.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0001 a0003c0005t0001	a0001c0001t0001g0168 a0001c0001t0001g0252 a0001c0002t0001g0004 others(13): Show a0001c0001t0001g0168 a0001c0001t0001g0252 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0011t0001g0138 a0003c0005t0001g0001 a0003c0005t0001g0002 a0003c0005t0001g0003 a0003c0005t0001g0007 a0003c0005t0001g0008	16	272	0.0588	-124	c.6+3 others(15): Show c.6+32385_6+32508del	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ASAP1_chr8_130047104_130448674	130049394	GGGGCAGA others(117): Show GGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACAC ATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	308	0.0033	-124	c.52 others(11): Show c.5213_*5336del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2709		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049694	GGAACACA others(117): Show GGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAG AGGGGAACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0153 a0001c0001t0014g0153	1	308	0.0033	-124	c.49 others(11): Show c.4913_*5036del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2409		chr8	TogoVar

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