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
SLC39A8_chr4_102256666_102350482	102320397	TATATATA others(127): Show TATATATATGAGAATATATATATGAGAATATATATATATGAGAATATATA TATGAGAGTATATATACATATGAGAATATATATATGAGAGTATATATATA TGAGAATATATATATGAGAGTATATATATATGAGA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	266	0.0038	-134	c.220 others(17): Show c.220-4701_220-4568del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SMYD3_chr1_245744347_246512279	245991751	CCAGAAAC others(127): Show CCAGAAACGGCCTGCCGTCATTTCTATCATATTCTATTGGCCACACACAC CAACTTACAACTGAACCTCAGAAACGGCCTGCCGTCATTTCTATCATATT CTATTGGCCACACACACCAACTTACAACTGAACCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 HG00735.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0013 a0001c0006t0001g0048 a0001c0002t0001g0013 a0001c0006t0001g0048	2	150	0.0133	-134	c.532 others(19): Show c.532-61948_532-61815del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246002322	CTGCAGGC others(127): Show CTGCAGGCTCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(82): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18984.hp2 NA19000.hp1 NA19030.hp2 NA19057.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016 a0003c0010 a0004c0013 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0003c0010t0001 a0004c0013t0002 a0005c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(82): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0092 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0079 a0001c0002t0002g0037 a0001c0002t0002g0078 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0006t0001g0025 a0002c0003t0001g0096 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0103 a0002c0003t0001g0105 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0001g0144 a0002c0003t0001g0148 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0004t0001g0107 a0002c0004t0001g0121 a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0005t0001g0142 a0002c0005t0001g0146 a0002c0005t0002g0115 a0002c0007t0001g0120 a0002c0007t0001g0124 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0016t0001g0097 a0003c0010t0001g0031 a0004c0013t0002g0072 a0005c0015t0002g0094	85	150	0.5667	-134	c.532 others(19): Show c.532-72519_532-72386del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246002324	GCAGGCTC others(127): Show GCAGGCTCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18963.hp1 NA18965.hp2 others(4): Show HG01981.hp2 NA18963.hp1 NA18965.hp2 NA18984.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0005t0002	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0002t0001g0012 others(4): Show a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0002t0001g0012 a0001c0002t0001g0053 a0001c0002t0001g0073 a0001c0002t0002g0083 a0002c0005t0002g0106	7	150	0.0467	-134	c.532 others(19): Show c.532-72521_532-72388del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246002330	TCCCGCCA others(127): Show TCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02280.hp1 others(5): Show HG00735.hp2 HG01243.hp2 HG02280.hp1 HG02615.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0009 others(1): Show a0001c0002 a0001c0006 a0001c0009 a0002c0003	a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0009t0001 a0002c0003t0002	a0001c0002t0001g0013 a0001c0006t0001g0022 a0001c0006t0001g0035 others(5): Show a0001c0002t0001g0013 a0001c0006t0001g0022 a0001c0006t0001g0035 a0001c0006t0001g0048 a0001c0009t0001g0002 a0002c0003t0002g0110 a0002c0003t0002g0130 a0002c0003t0002g0147	8	150	0.0533	-134	c.532 others(19): Show c.532-72527_532-72394del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246002386	GTGTTAGC others(127): Show GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02257.hp1 HG02451.hp2 HG01433.hp1 HG02257.hp1 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0001 a0002c0007t0001 a0002c0004t0001 a0002c0007t0001	a0002c0004t0001g0117 a0002c0007t0001g0123 a0002c0007t0001g0132 a0002c0004t0001g0117 a0002c0007t0001g0123 a0002c0007t0001g0132	3	150	0.0200	-134	c.532 others(19): Show c.532-72583_532-72450del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNPH_chr20_1261294_1314327	1302096	ATTTCTAA others(127): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02083.hp2 HG02602.hp1 HG01243.hp1 HG02083.hp2 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0107 a0001c0002t0001g0117 a0001c0002t0001g0087 a0001c0002t0001g0107 a0001c0002t0001g0117	3	350	0.0086	-134	c.440 others(17): Show c.440+1452_440+1585del	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPDYA_chr2_28805834_28855610	28811663	AAAAAAAA others(127): Show AAAAAAAAAATTAACCGGGCATGGTGGTGCGCACTTGTAATCCCAGCTAC TTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCCTGGAAGCGGAGGTTGC AGTGAGCTAAAACCCGTCTCTACAAAAAATAACTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	338	0.0030	-134	c.-93 others(15): Show c.-93+726_-93+859del	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPECC1L_chr22_24265831_24422738	24418257	CAGGTACC others(127): Show CAGGTACCCTGGGGTGGGCAGTGGGCAACAGCTGTAGAGCTGGGAGCTGG GCGTGAAAGGACTGGGGCAGGACTGGGCTTGGACTCAGCTCCTCCCTGCT CAGCAGCCCCTTCGTTGTGTCCTCTGCTGTGCGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0009 a0001c0001t0030g0009	1	326	0.0031	-134	c.36 others(11): Show c.3635_*3768del	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		520		chr22	TogoVar
SPON1_chr11_13957723_14273133	14160498	CATATATA others(127): Show CATATATATATTTATATATATATTTACATATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATATTTACATATATATATT TATATATATTTATATATATTTATATATATATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	224	0.0045	-134	c.825 others(19): Show c.825+24937_825+25070del	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SRRD_chr22_26478877_26499658	26495543	TATATATG others(127): Show TATATATGTGTATATATATACACATATATATATGTGTGTGTGTGTATACA TATATACATATATATGTGTGTATATACATATATGTGTATATACATGTGTA TATATACATGTATATGCATGTGTGTATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	448	0.0022	-134	c.38 others(11): Show c.3872_*4005del	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding		886		chr22	TogoVar
STARD13_chr13_33098137_33290755	33177810	AAGGAAGG others(127): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0014 a0001c0002t0025g0014	1	302	0.0033	-134	c.170 others(19): Show c.170-10322_170-10189del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STAT4_chr2_191024576_191155994	191055485	CTGGGATT others(127): Show CTGGGATTACAGGCGTGAGCCACTGCGCCAGGCTAATTTTCTGTATTTTT AGTAGAGACGGGATTTCACCGTGTTAGCCAGGATGCTCTTGATCTCTTGA CCCTGTGATCCACCCTCCTCGGCCTCCCAAAGTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG02622.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0181 a0001c0001t0001g0013 a0001c0001t0001g0181	2	290	0.0069	-134	c.120 others(18): Show c.1207-1085_1207-952del	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	13/23			chr2	TogoVar
SUCO_chr1_172528150_172616833	172558447	AACTTAAC others(127): Show AACTTAACAAAAACAAAAATAAATAGGGTCCATGAGTAGTTCAGTGTGCT GACTACCACATCCATATTTATTCCTCTTTAATTTGGGGATCTTTTGTTCT CTGCTTTCTTTTTCACGTATTTTCAGTGAATCTTC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0047 a0001c0001t0009g0047	1	340	0.0029	-134	c.732 others(15): Show c.732+659_732+792del	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUN5_chr20_32978775_33009433	32982554	GTGAGGCG others(127): Show GTGAGGCGACCCCTTGAAGCCCATTCCACTGTGAGGCCCATCAGAGATGG GCCTGGGTCAGGTGCTGGAGGAACCCTGGGTGCTGGCGTGGAGGCCTGGC AAATGGCCAGAATGGCGGATTCTGCAGCAGGGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG02886.hp1 others(4): Show HG00140.hp2 HG02109.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 NA18906.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0002c0002t0001g0062 a0003c0003t0001g0284 a0003c0003t0001g0285 others(4): Show a0002c0002t0001g0062 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0293 a0004c0004t0001g0087 a0004c0004t0001g0092 a0004c0004t0001g0093	7	382	0.0183	-134	c.11 others(11): Show c.1106_*1239del	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding		1220		chr20	TogoVar
TACR3_chr4_103581031_103724985	103650811	AATATATT others(127): Show AATATATTATATAATAATATATATATCTTATATATAATAATATATATATC TCATATATAATAATATATATATCTTATATATAATAATATATATATCTCAT ATATAATAATATATATATCTTATATATAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03098.hp2 others(4): Show HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0006c0006	a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 others(3): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0005t0018 a0001c0010t0009 a0006c0006t0018	a0001c0001t0011g0133 a0001c0001t0015g0134 a0001c0001t0021g0109 others(4): Show a0001c0001t0011g0133 a0001c0001t0015g0134 a0001c0001t0021g0109 a0001c0005t0018g0245 a0001c0005t0018g0266 a0001c0010t0009g0247 a0006c0006t0018g0128	7	280	0.0250	-134	c.888 others(17): Show c.888+5249_888+5382del	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(127): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01261.hp1 others(19): Show HG01070.hp2 HG01071.hp1 HG01261.hp1 HG01884.hp1 HG02135.hp2 HG02273.hp2 HG02698.hp1 HG03239.hp1 HG03704.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18962.hp1 NA18989.hp2 NA18994.hp2 NA19002.hp1 NA19043.hp2 NA19068.hp1 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0178 a0001c0001t0002g0006 a0001c0001t0002g0029 others(13): Show a0001c0001t0001g0178 a0001c0001t0002g0006 a0001c0001t0002g0029 a0001c0001t0002g0094 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0196 a0001c0001t0006g0143 a0001c0001t0006g0191 a0001c0001t0010g0030 a0001c0001t0010g0102	22	414	0.0531	-134	c.106 others(17): Show c.106+2896_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TAF9_chr5_69359743_69374520	69374226	TTTATTTT others(127): Show TTTATTTTCCAAGGCTTAGATTTTTCTCAATAGTTATTCTAAAGTTGTAT GATTAGTTGTCTTAGATTTAATTTAATCCCAACATAGAATTGATCTTTTT AAAAATTTTTGTACTAAATGTAATACTCCTCTCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	441	0.0023	-134	c.-50 others(11): Show c.-5008_-4875del	TAF9	ENSG00000273841.6	transcript	ENST00000217893.10	protein_coding		4707		chr5	TogoVar
TBC1D22A_chr22_46757650_47180693	47176342	GGGTGTGG others(127): Show GGGTGTGGGGTGTGCTCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCC CCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCT GTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0089 a0001c0001t0018g0089	1	112	0.0089	-134	c.27 others(11): Show c.2717_*2850del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		650		chr22	TogoVar
TCF3_chr19_1604292_1657615	1628838	CGGGGTGA others(127): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0197 a0001c0002t0013g0197	1	352	0.0028	-134	c.299 others(17): Show c.299-1546_299-1413del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECRL_chr4_64272702_64414450	64273977	TGCCTCAG others(127): Show TGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCT GGCTAATTTTGTATTTTTAGTAGAGACGGCGTTTCTCCATGTTTGTCAGG CTGGTCTCGAACTCCTGACCTCAGGTGATCCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02486.hp2 others(4): Show HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02886.hp2 HG03041.hp1 HG03579.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0014 a0002c0002t0006 a0003c0003t0006 a0001c0001t0014 a0002c0002t0006 a0003c0003t0006	a0001c0001t0014g0102 a0001c0001t0014g0103 a0002c0002t0006g0250 others(4): Show a0001c0001t0014g0102 a0001c0001t0014g0103 a0002c0002t0006g0250 a0002c0002t0006g0256 a0002c0002t0006g0258 a0003c0003t0006g0257 a0003c0003t0006g0259	7	272	0.0257	-134	c.59 others(11): Show c.5961_*6094del	TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding		3724		chr4	TogoVar
TECRL_chr4_64272702_64414450	64274057	GTTTCTCC others(127): Show GTTTCTCCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATC CACCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAT GCCTGGCTAATTTTGTATTTTTAGTAGAGACGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	272	0.0037	-134	c.58 others(11): Show c.5881_*6014del	TECRL	ENSG00000205678.8	transcript	ENST00000381210.8	protein_coding		3644		chr4	TogoVar
TET1_chr10_68555337_68699487	68683479	TGTGTTAG others(127): Show TGTGTTAGCCAGGATGGTCTTGATCTCATGACCTCGTGATCCACCCACCT TGGCCTCGAAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCAGCCA ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACC	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0260 a0004c0003t0003g0260	1	282	0.0036	-134	c.505 others(17): Show c.5052+548_5052+681del	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TFDP2_chr3_141939428_142154544	141942827	GTGTTAGC others(127): Show GTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTA TTTTTTGTATTTTTAGTGGAAACAGGGTTTCACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02083.hp1 NA18946.hp1 HG00597.hp1 HG02083.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0085 a0001c0001t0142 a0001c0001t0026 a0001c0001t0085 a0001c0001t0142	a0001c0001t0026g0083 a0001c0001t0085g0085 a0001c0001t0142g0084 a0001c0001t0026g0083 a0001c0001t0085g0085 a0001c0001t0142g0084	3	252	0.0119	-134	c.95 others(11): Show c.9552_*9685del	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding		1600		chr3	TogoVar
TFIP11_chr22_26486240_26517473	26495543	TATATATG others(127): Show TATATATGTGTATATATATACACATATATATATGTGTGTGTGTGTATACA TATATACATATATATGTGTGTATATACATATATGTGTATATACATGTGTA TATATACATGTATATGCATGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0098 a0001c0008t0002g0098	1	420	0.0024	-134	c.184 others(17): Show c.1849+396_1849+529del	TFIP11	ENSG00000100109.17	transcript	ENST00000407690.6	protein_coding	12/14			chr22	TogoVar
THSD7B_chr2_136760545_137682718	136890370	CTTCTTCC others(127): Show CTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTT CTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0005 a0016c0026t0005	a0016c0026t0005g0085 a0016c0026t0005g0085	1	98	0.0102	-134	c.139 others(17): Show c.139+8060_139+8193del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890388	CCTCTTCC others(127): Show CCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTC TTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG02622.hp2 others(2): Show HG00438.hp2 HG00609.hp2 HG02622.hp2 NA18747.hp2 NA19057.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0013 a0002c0003 others(2): Show a0001c0001 a0001c0013 a0002c0003 a0002c0006 a0010c0042	a0001c0001t0001 a0001c0013t0002 a0002c0003t0009 others(2): Show a0001c0001t0001 a0001c0013t0002 a0002c0003t0009 a0002c0006t0001 a0010c0042t0006	a0001c0001t0001g0026 a0001c0013t0002g0030 a0002c0003t0009g0075 others(2): Show a0001c0001t0001g0026 a0001c0013t0002g0030 a0002c0003t0009g0075 a0002c0006t0001g0067 a0010c0042t0006g0043	5	98	0.0510	-134	c.139 others(17): Show c.139+8074_139+8207del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129856730	GTGCCCTT others(127): Show GTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCG GGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGG TGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 HG02647.hp1 others(2): Show HG02040.hp1 HG02083.hp2 HG02647.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 others(2): Show a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 a0001c0001t0010g0048 a0001c0004t0001g0036	5	94	0.0532	-134	c.79+ others(17): Show c.79+46397_79+46530del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TPO_chr2_1408463_1548673	1457345	AGTGTGTG others(127): Show AGTGTGTGGGCAGATGTGTACATAGCATGTATGATACTGTGGGTACACAT ATATATAGCATGTATGATCGCGTGTGGGCAGATGTGTACATAGCATGTAT GATACTGTGGGTACACATATATAGCATGTATGATC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(92): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(6): Show a0000 a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0013	a0000c0019 a0001c0001 a0001c0004 others(15): Show a0000c0019 a0001c0001 a0001c0004 a0002c0002 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0004c0007 a0006c0009 a0006c0013 a0007c0020 a0007c0021 a0007c0022 a0007c0026 a0007c0027 a0012c0023 a0013c0017	a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 others(35): Show a0000c0019t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0004t0001 a0001c0004t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0015t0003 a0002c0015t0004 a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0004c0007t0004 a0006c0009t0001 a0006c0009t0003 a0006c0009t0006 a0006c0013t0007 a0006c0013t0012 a0007c0020t0004 a0007c0021t0004 a0007c0022t0002 a0007c0026t0003 a0007c0027t0002 a0012c0023t0001 a0013c0017t0002	a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 others(91): Show a0000c0019t0004g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0003g0077 a0001c0001t0003g0128 a0001c0001t0005g0073 a0001c0001t0007g0013 a0001c0001t0010g0054 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0009g0104 a0002c0002t0001g0006 a0002c0002t0002g0004 a0002c0002t0003g0011 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0063 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0003g0127 a0002c0002t0006g0027 a0002c0002t0007g0121 a0002c0002t0009g0062 a0002c0002t0013g0119 a0002c0002t0014g0008 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0003t0001g0010 a0003c0003t0001g0046 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0003t0005g0066 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0004c0007t0004g0072 a0004c0007t0004g0116 a0006c0009t0001g0123 a0006c0009t0003g0050 a0006c0009t0006g0084 a0006c0013t0007g0122 a0006c0013t0012g0067 a0007c0020t0004g0018 a0007c0021t0004g0031 a0007c0022t0002g0034 a0007c0026t0003g0052 a0007c0027t0002g0098 a0012c0023t0001g0015 a0013c0017t0002g0024	95	130	0.7308	-134	c.819 others(17): Show c.819+1118_819+1251del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM13_chr13_49992042_50023467	50022693	CGGAAGGA others(127): Show CGGAAGGATCCTTGAGCCCAGGAGTTCGAGATCAGCCTGAGCAACAGTGA GACCCCCATCTGTCTATGATTTAAAAACAACATCAACAACAAAAAACCCC AAAAATCACAATTACCGGCTTTGCTGTAGAACTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01069.hp2 others(52): Show HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01496.hp1 HG01993.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18959.hp1 NA18984.hp1 NA18995.hp2 NA18999.hp1 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0034 a0001c0001t0036 others(44): Show a0001c0001t0015 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0270 a0001c0001t0275 a0001c0001t0276 a0001c0001t0280 a0001c0001t0281 a0001c0001t0295 a0001c0001t0296 a0001c0001t0297 a0001c0001t0298 a0001c0001t0299 a0001c0001t0300 a0001c0001t0301 a0001c0001t0302 a0001c0001t0303 a0001c0001t0304 a0001c0001t0305 a0001c0001t0306 a0001c0001t0307 a0001c0001t0308 a0001c0001t0309 a0001c0001t0310 a0001c0001t0311 a0001c0001t0312 a0001c0001t0313 a0001c0001t0314 a0001c0001t0315 a0001c0001t0316 a0001c0001t0317 a0001c0001t0318 a0001c0001t0319 a0001c0001t0320 a0002c0002t0035 a0002c0002t0046 a0002c0002t0267 a0002c0002t0268 a0002c0002t0271 a0002c0002t0273 a0002c0002t0274 a0002c0002t0277 a0002c0002t0278 a0002c0002t0279	a0001c0001t0015g0014 a0001c0001t0015g0226 a0001c0001t0034g0025 others(48): Show a0001c0001t0015g0014 a0001c0001t0015g0226 a0001c0001t0034g0025 a0001c0001t0034g0237 a0001c0001t0036g0046 a0001c0001t0036g0229 a0001c0001t0037g0004 a0001c0001t0038g0023 a0001c0001t0039g0055 a0001c0001t0039g0057 a0001c0001t0270g0025 a0001c0001t0275g0236 a0001c0001t0276g0235 a0001c0001t0280g0230 a0001c0001t0281g0025 a0001c0001t0295g0045 a0001c0001t0296g0222 a0001c0001t0297g0023 a0001c0001t0298g0234 a0001c0001t0299g0014 a0001c0001t0300g0014 a0001c0001t0301g0024 a0001c0001t0302g0224 a0001c0001t0303g0024 a0001c0001t0304g0225 a0001c0001t0305g0223 a0001c0001t0306g0004 a0001c0001t0307g0024 a0001c0001t0308g0004 a0001c0001t0309g0046 a0001c0001t0310g0227 a0001c0001t0311g0004 a0001c0001t0312g0004 a0001c0001t0313g0045 a0001c0001t0314g0004 a0001c0001t0315g0004 a0001c0001t0316g0228 a0001c0001t0317g0026 a0001c0001t0318g0026 a0001c0001t0319g0056 a0001c0001t0320g0004 a0002c0002t0035g0047 a0002c0002t0046g0233 a0002c0002t0267g0220 a0002c0002t0268g0022 a0002c0002t0271g0022 a0002c0002t0273g0219 a0002c0002t0274g0221 a0002c0002t0277g0044 a0002c0002t0278g0044 a0002c0002t0279g0022	55	390	0.1410	-134	c.95 others(11): Show c.9530_*9663del	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding		4227		chr13	TogoVar
UBE2I_chr16_1304636_1332017	1328418	GAGGTCAG others(127): Show GAGGTCAGGAGTTCAAGACCAGCCTGGCCGACATGGCAAATGCCCATCTC CATTAAAGATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATC CTAGCACCTTGGGAGGCTGATGCGGATGGATCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG03209.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG03209.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0175 a0001c0001t0010g0176 a0001c0001t0010g0177 others(1): Show a0001c0001t0010g0175 a0001c0001t0010g0176 a0001c0001t0010g0177 a0001c0001t0010g0179	4	364	0.0110	-134	c.36 others(11): Show c.3626_*3759del	UBE2I	ENSG00000103275.22	transcript	ENST00000397514.8	protein_coding		1402		chr16	TogoVar
UBE3A_chr15_25328728_25444024	25430056	TGTATTAT others(127): Show TGTATTATATATATATAATACATATATATAAGATTATATATATATTATAT ATATAATACATATATATAAGATTATATATATATTATATATATAATACATA TATATAAGATTATATATATATTATATATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02717.hp2 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0293 a0001c0003t0021g0294 a0001c0003t0021g0293 a0001c0003t0021g0294	2	298	0.0067	-134	c.-16 others(19): Show c.-165+8299_-165+8432del	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3C_chr7_157133926_157274370	157167666	AGCTGGGA others(127): Show AGCTGGGACTATAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATTT TTAGAAGAGGTATGGTTTCACCATTTTAACCAGGATGGTCTCGATCTCCT GACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	322	0.0031	-134	c.121 others(17): Show c.121-1374_121-1241del	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UCN3_chr10_5359966_5379692	5369358	GTCAGCCT others(127): Show GTCAGCCTTGATTGAGCATCTGCTCAGACAAGGAGCTTTCATACACACAT TGACGTTTCTCATCGAATCCTTCACTTAACCTTCATGAGGTGGTTATTGC CATCCCATTTATCAGAGAAGGAAATTGAAATTCAC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	468	0.0021	-134	c.-7+ others(15): Show c.-7+4129_-6-4223del	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UNC5A_chr5_176805559_176885898	176871668	CCCACACC others(127): Show CCCACACCACAGCTTCCCATCTGCCCACACTCACCAACACCACAGCTTCA CATCTGCCCACACCTGCCCCAACACCACAGCTTCCCATCTGCCCACACTC GCCCAACACCACAGCTTCACATCTGCCCACACTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(33): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp1 HG01978.hp2 HG02074.hp2 HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 NA18975.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0005t0002 a0002c0002t0001 a0002c0002t0004 a0004c0006t0002	a0001c0001t0001g0037 a0001c0001t0002g0040 a0001c0001t0002g0090 others(31): Show a0001c0001t0001g0037 a0001c0001t0002g0040 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0118 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0248 a0001c0001t0003g0074 a0001c0001t0003g0252 a0001c0001t0011g0015 a0001c0005t0002g0235 a0001c0005t0002g0241 a0002c0002t0001g0006 a0002c0002t0001g0112 a0002c0002t0004g0021 a0002c0002t0004g0048 a0002c0002t0004g0066 a0002c0002t0004g0144 a0002c0002t0004g0165 a0002c0002t0004g0166 a0004c0006t0002g0005	36	268	0.1343	-134	c.886 others(17): Show c.886+1138_886+1271del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176872212	CCAACACC others(127): Show CCAACACCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAGCTT CCCATCTGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCACACT CACCAACACCACAGCTTCCCATCTGTCCACGCTCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	268	0.0075	-134	c.886 others(17): Show c.886+1680_887-1621del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
VAT1L_chr16_77783564_77985107	77806359	ACCACCAC others(127): Show ACCACCACGCCCGGCCAAGTTTTTTGTATTTTTAGTAGAGACAGGTTTCA CCATGTTAGCCAGCATGGTCTCGATTTCCTGACCTCGTGATCTGCCCACC TCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG01071.hp1 others(15): Show HG00140.hp1 HG00597.hp2 HG01071.hp1 HG01106.hp1 HG01192.hp1 HG01515.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp2 NA18944.hp2 NA18947.hp1 NA18966.hp1 NA18994.hp2 NA19060.hp2 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0048 others(15): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0248 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0237 a0001c0001t0003g0252 a0001c0003t0001g0056	18	342	0.0526	-134	c.234 others(19): Show c.234-10465_234-10332del	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS9D1_chr16_89702134_89725898	89725061	ATGCCACC others(127): Show ATGCCACCACGCCCACCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCATGTGGGCCAGGCTTGGTCTCGAACTCCTGACCTCGTGATCCACCTG CCTCAGCCTCCCGAGTAGCTGGGATGACGGGCACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 NA18962.hp2 others(1): Show HG02109.hp1 HG03471.hp1 NA18962.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0002c0008t0001 a0001c0002t0001 a0001c0002t0002 a0002c0008t0001	a0001c0002t0001g0088 a0001c0002t0002g0033 a0002c0008t0001g0045 a0001c0002t0001g0088 a0001c0002t0002g0033 a0002c0008t0001g0045	4	430	0.0093	-134	c.-43 others(11): Show c.-4334_-4201del	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding		4164		chr16	TogoVar
XIAP_chrX_123855053_123918972	123911195	CAGCTGGG others(127): Show CAGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCAGATCACCTGAGGTCGGGAGGTCGAGACCAGCCTGACCAACA TGGAGAAACCCCGTCTCTACTAAAAATACAAAATT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02451.hp2 others(6): Show HG01891.hp2 HG02109.hp1 HG02451.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0043 a0001c0001t0005 a0002c0002t0043	a0001c0001t0005g0070 a0001c0001t0005g0075 a0001c0001t0005g0076 others(6): Show a0001c0001t0005g0070 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0232 a0001c0001t0005g0233 a0002c0002t0043g0275	9	286	0.0315	-134	c.40 others(11): Show c.4024_*4157del	XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	7/7	4024	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(127): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAAATAAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00639.hp2 others(18): Show HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01361.hp1 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02602.hp1 HG02698.hp2 NA18954.hp1 NA18960.hp1 NA18984.hp1 NA19001.hp2 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0062 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0097 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0075	21	408	0.0515	-134	c.-54 others(9): Show c.-549_-416del	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		342		chr7	TogoVar
ZNF136_chr19_12158096_12194871	12169993	ACTGTGTT others(127): Show ACTGTGTTAGCCAGGGTGGTCTCGATCTCCTGACCTCGTGATCTGCCCAC CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGC CATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp1 HG01106.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0278 a0001c0001t0001g0251 a0001c0001t0001g0278	2	366	0.0055	-134	c.3+6 others(13): Show c.3+6810_3+6943del	ZNF136	ENSG00000196646.12	transcript	ENST00000343979.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF136_chr19_12158096_12194871	12170037	GCCCACCT others(127): Show GCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACG CCCGGCCATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTGTGTTAG CCAGGGTGGTCTCAATCTCCTGACCTTGTGATTCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(53): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG01070.hp2 HG01257.hp2 HG01516.hp2 HG01517.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02698.hp2 HG02735.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18963.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18992.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19075.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0019 others(34): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0160 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0078 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0106 a0001c0001t0012g0003 a0001c0001t0018g0076	56	366	0.1530	-134	c.3+6 others(13): Show c.3+6878_3+7011del	ZNF136	ENSG00000196646.12	transcript	ENST00000343979.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF276_chr16_89716537_89745925	89725061	ATGCCACC others(127): Show ATGCCACCACGCCCACCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCATGTGGGCCAGGCTTGGTCTCGAACTCCTGACCTCGTGATCCACCTG CCTCAGCCTCCCGAGTAGCTGGGATGACGGGCACG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp1 NA18962.hp2 others(1): Show HG02109.hp1 HG03471.hp1 NA18962.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0013 a0001c0001 a0002c0002 a0002c0013	a0001c0001t0017 a0002c0002t0033 a0002c0013t0016 a0001c0001t0017 a0002c0002t0033 a0002c0013t0016	a0001c0001t0017g0260 a0002c0002t0033g0120 a0002c0013t0016g0030 a0001c0001t0017g0260 a0002c0002t0033g0120 a0002c0013t0016g0030	4	420	0.0095	-134	c.100 others(19): Show c.1006+1409_1006+1542del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF423_chr16_49482524_49861112	49506407	ATGGGTGG others(127): Show ATGGGTGGATAGATAGGTGGGTAGGTGGAGGAGTGGGTGGATGACAGATT GATGGGTAGATGAATGAATAGATGGATGGATGGATAGATGAAATGGTGTG TAGGTGATGGACAGATGTATGGATGGATGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(89): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01934.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03834.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18977.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0042 a0001c0001t0045 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0019 a0001c0002t0024 a0001c0002t0025 a0001c0002t0030 a0001c0002t0038 a0001c0002t0047 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0034 a0001c0003t0050 a0001c0004t0001 a0001c0004t0007 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0010 a0001c0005t0013 a0001c0006t0001 a0001c0006t0005 a0001c0007t0003 a0001c0007t0009 a0001c0015t0003 a0001c0016t0001 a0001c0017t0016	a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0087 others(89): Show a0001c0001t0001g0042 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0002g0024 a0001c0001t0002g0053 a0001c0001t0002g0077 a0001c0001t0002g0152 a0001c0001t0004g0109 a0001c0001t0004g0126 a0001c0001t0006g0054 a0001c0001t0006g0135 a0001c0001t0007g0016 a0001c0001t0009g0011 a0001c0001t0011g0133 a0001c0001t0014g0034 a0001c0001t0015g0001 a0001c0001t0017g0036 a0001c0001t0020g0003 a0001c0001t0021g0004 a0001c0001t0022g0005 a0001c0001t0027g0035 a0001c0001t0042g0163 a0001c0001t0045g0045 a0001c0001t0048g0065 a0001c0002t0001g0082 a0001c0002t0002g0095 a0001c0002t0002g0192 a0001c0002t0003g0012 a0001c0002t0005g0094 a0001c0002t0006g0017 a0001c0002t0006g0038 a0001c0002t0006g0086 a0001c0002t0007g0161 a0001c0002t0008g0116 a0001c0002t0011g0040 a0001c0002t0011g0085 a0001c0002t0012g0033 a0001c0002t0012g0195 a0001c0002t0013g0070 a0001c0002t0019g0029 a0001c0002t0019g0168 a0001c0002t0024g0157 a0001c0002t0025g0092 a0001c0002t0030g0125 a0001c0002t0038g0096 a0001c0002t0047g0102 a0001c0003t0001g0023 a0001c0003t0001g0026 a0001c0003t0001g0056 a0001c0003t0001g0059 a0001c0003t0001g0108 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0144 a0001c0003t0001g0176 a0001c0003t0003g0039 a0001c0003t0003g0080 a0001c0003t0003g0181 a0001c0003t0004g0041 a0001c0003t0005g0154 a0001c0003t0007g0129 a0001c0003t0008g0037 a0001c0003t0008g0164 a0001c0003t0008g0165 a0001c0003t0009g0167 a0001c0003t0010g0064 a0001c0003t0034g0063 a0001c0003t0050g0196 a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0001g0160 a0001c0004t0001g0171 a0001c0004t0007g0177 a0001c0005t0003g0010 a0001c0005t0004g0076 a0001c0005t0005g0100 a0001c0005t0010g0073 a0001c0005t0013g0090 a0001c0006t0001g0072 a0001c0006t0005g0069 a0001c0007t0003g0097 a0001c0007t0003g0105 a0001c0007t0003g0194 a0001c0007t0009g0009 a0001c0015t0003g0067 a0001c0016t0001g0162 a0001c0017t0016g0178	92	196	0.4694	-134	c.385 others(21): Show c.3850-15237_3850-15104del	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	7/7			chr16	TogoVar
ZNF511_chr10_133303914_133318161	133317812	CCCCCCCC others(127): Show CCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACA CAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACC ACACCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG01934.hp2 others(9): Show HG01106.hp1 HG01261.hp2 HG01934.hp2 HG02129.hp1 HG02257.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002	12	282	0.0426	-134	c.49 others(11): Show c.4947_*5080del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4652		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317880	ACCCCCCC others(127): Show ACCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACA CCTCCCCCCCAGACACAGAGATGGAAAGACCACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02897.hp2 others(3): Show HG02451.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0001t0001g0003 a0001c0002t0001g0002	6	282	0.0213	-134	c.50 others(11): Show c.5015_*5148del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4720		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317947	CCCCCCCC others(127): Show CCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCA CACCCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01071.hp1 others(39): Show HG00280.hp1 HG00738.hp2 HG01071.hp1 HG01257.hp2 HG02004.hp2 HG02015.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG06807.hp2 NA18944.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18995.hp2 NA19009.hp2 NA19055.hp1 NA19065.hp2 NA19083.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0028 a0001c0002t0001g0030	42	282	0.1489	-134	c.50 others(11): Show c.5082_*5215del	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4787		chr10	TogoVar
ZNF57_chr19_2895928_2923473	2910634	GTATTTTT others(127): Show GTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCACGATGGTCTCAA TCTCCTGACATCGTGATCTGCCCGCCTCGGCCTCCCGAAGTGTTGGGGTT ACAGGCGTGAGCCAATGCGCCTGGCCTAATTTTTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0100 a0012c0012t0002g0100	1	398	0.0025	-134	c.4-4 others(13): Show c.4-4871_4-4738del	ZNF57	ENSG00000171970.14	transcript	ENST00000306908.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862407	TATATGTA others(127): Show TATATGTAATATAATATATATATTATATATATGTAATATAATATATATAT TATATATATGTAATATAATATATATATTATATATATGTAATATAATATAT ATATTATATATGTAATATAATATATAATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02622.hp1 others(5): Show HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 others(5): Show a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085	8	364	0.0220	-134	c.39 others(11): Show c.3975_*4108del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3741		chr19	TogoVar
ZNF823_chr19_11716265_11743946	11732330	AATTTTTT others(127): Show AATTTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCAGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGT GCCGGGATTACAGGCATGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	422	0.0024	-134	c.3+6 others(13): Show c.3+6353_3+6486del	ZNF823	ENSG00000197933.13	transcript	ENST00000341191.11	protein_coding	1/3			chr19	TogoVar

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