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
NEU4_chr2_241804193_241822413	241806649	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01257.hp1 HG02040.hp2 HG01192.hp2 HG01257.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0003g0080 a0001c0004t0001g0006 a0001c0001t0001g0003 a0001c0001t0003g0080 a0001c0004t0001g0006	3	312	0.0096	-109	c.-26 others(11): Show c.-2628_-2520del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2543		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806684	TCCCTCCC others(102): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	316	0.0032	-109	c.-25 others(11): Show c.-2593_-2485del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2508		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806765	CCCCTCAG others(102): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0124 a0002c0003t0002g0124	1	307	0.0033	-109	c.-25 others(11): Show c.-2512_-2404del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2427		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806879	TCCCCCCT others(102): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	288	0.0035	-109	c.-23 others(11): Show c.-2398_-2290del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2313		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806911	CCTTCCCT others(102): Show CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02129.hp2 HG02148.hp1 others(6): Show HG01346.hp2 HG02129.hp2 HG02148.hp1 HG02300.hp1 HG02300.hp2 HG03139.hp2 HG03486.hp2 NA18612.hp1 NA18999.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0003c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0130 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0004t0001g0158 a0003c0007t0002g0019 a0003c0007t0002g0145	9	317	0.0284	-109	c.-23 others(11): Show c.-2366_-2258del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2281		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806914	TCCCTCCC others(102): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	318	0.0031	-109	c.-23 others(11): Show c.-2363_-2255del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2278		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806974	GACCTCCG others(102): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG04199.hp1 HG03139.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0083 a0001c0004t0001g0160 a0001c0002t0001g0083 a0001c0004t0001g0160	2	308	0.0065	-109	c.-23 others(11): Show c.-2303_-2195del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2218		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807030	CCCCTCAG others(102): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	307	0.0033	-109	c.-22 others(11): Show c.-2247_-2139del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2162		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807974	TCCCTCCC others(102): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCT CGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	318	0.0031	-109	c.-13 others(11): Show c.-1303_-1195del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1218		chr2	TogoVar
NRF1_chr7_129606720_129762076	129749309	GTAAAGGA others(102): Show GTAAAGGATGACTTCAGAGCTTTTGGCCTGAGCAACTAGAAGAATGTTAT TGCCATTTATTTGGGAAGAGAGGAGACTTGGGAAAAGCATGTTTCACCAT TTTGGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	382	0.0026	-109	c.134 others(19): Show c.1349-5708_1349-5600del	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	10/10			chr7	TogoVar
NUMB_chr14_73270216_73463546	73337765	TAATAACT others(102): Show TAATAACTGCATTTAGTAAGGTTGCTAGATCTAATTTCAATATACAAAGT GGTTAATATTTTTATAACAGCAATAAGCAGAAAATTATATTTAAAAATTT ACCATTTACA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	320	0.0031	-109	c.127 others(19): Show c.127-14670_127-14562del	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP54_chr4_76109664_76153397	76150170	TGTGGCCC others(102): Show TGTGGCCCAAGGAAGCCAAAAGATTGGACACCCCTGATTTAGCACATAGC CTAACGCTTAAGTACTTAGCTTACCTTAAAAAAACAAACAACCATTCTTC TTCTTCCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(86): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02735.hp1 HG02922.hp2 HG03453.hp2 HG03491.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0007 others(1): Show a0001c0001 a0002c0002 a0004c0007 a0005c0006	a0001c0001t0002 a0002c0002t0003 a0004c0007t0003 others(1): Show a0001c0001t0002 a0002c0002t0003 a0004c0007t0003 a0005c0006t0003	a0001c0001t0002g0079 a0001c0001t0002g0080 a0002c0002t0003g0001 others(61): Show a0001c0001t0002g0079 a0001c0001t0002g0080 a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0004c0007t0003g0063 a0005c0006t0003g0032	89	368	0.2418	-109	c.-19 others(11): Show c.-1905_-1797del	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding		1774		chr4	TogoVar
PEX5_chr12_7184686_7216459	7196518	GTAATAAT others(102): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATA TAATGTAATAATTATATATGTCACATAATGTAATAATTATATATGTCACA TATAATGTAA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	272	0.0037	-109	c.449 others(17): Show c.449-2488_449-2380del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PID1_chr2_229018973_229276287	229184643	ATATATAT others(102): Show ATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTATA TATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTATAT ATATATCCCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	254	0.0039	-109	c.31- others(17): Show c.31-28788_31-28680del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PID1_chr2_229018973_229276287	229184660	ATATATAT others(102): Show ATATATATATCCCGTATATATATATCCCGTATATATATATATCCCGTATA TATATATCCCGTATATATATATATCCCGTATATATATATCCCGTATATAT ATATATCCCG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA19085.hp1 HG01358.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0095 a0001c0001t0002g0023 a0001c0001t0002g0095	2	248	0.0081	-109	c.31- others(17): Show c.31-28805_31-28697del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PKP3_chr11_389209_409908	401504	CGGCCCCG others(102): Show CGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	198	0.0051	-109	c.173 others(17): Show c.1737+801_1737+909del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402042	ACCCCCGG others(102): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACC CCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp1 HG02300.hp2 others(4): Show HG01884.hp2 HG02135.hp1 HG02300.hp2 HG02647.hp2 NA18612.hp2 NA18945.hp1 NA19005.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0013c0037	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0013c0037t0005	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0005t0001g0084 a0001c0006t0001g0035 a0013c0037t0005g0087	7	184	0.0380	-109	c.173 others(18): Show c.1738-1032_1738-924del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLE_chr12_132618762_132692342	132644922	AGGGGCAC others(102): Show AGGGGCACCCTAGCTTCCTGTGTGGGGTCCTGGGGGGGTCTGGGAGAGCT GGAGAGGGGCACCCTAGCTTCGTGAATGGGGTCCTGGGGGGGCCTGGGAA AGCTGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02717.hp2 others(2): Show HG01243.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG03225.hp1	a0001 a0006 a0001 a0006	a0001c0026 a0006c0009 a0001c0026 a0006c0009	a0001c0026t0002 a0006c0009t0002 a0001c0026t0002 a0006c0009t0002	a0001c0026t0002g0028 a0006c0009t0002g0020 a0006c0009t0002g0021 others(2): Show a0001c0026t0002g0028 a0006c0009t0002g0020 a0006c0009t0002g0021 a0006c0009t0002g0022 a0006c0009t0002g0023	5	289	0.0173	-109	c.415 others(18): Show c.4150-1054_4150-946del	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	32/48			chr12	TogoVar
PPP2R3B_chrX_328933_391907	342530	CGGGAGGC others(102): Show CGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGTGAGACCTCG CCAACGGGAGGCGGGAGTGAGACCTCGCCAACGGGAGGCGGGAGTGAGAC CTCGCCAACG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0019 a0002c0001t0006g0019	1	24	0.0417	-109	c.103 others(17): Show c.1037-708_1037-600del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12			chrX	TogoVar
PRIMPOL_chr4_184644738_184699952	184652945	AAGGAAGG others(102): Show AAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAAGGAAGGAAG GAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAA GGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19072.hp2 NA19076.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0011	a0001c0001 a0002c0006 a0007c0007 others(2): Show a0001c0001 a0002c0006 a0007c0007 a0008c0012 a0011c0009	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0002c0006t0002 a0007c0007t0001 a0008c0012t0001 a0011c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(125): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0272 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0310 a0001c0001t0002g0016 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0002c0006t0001g0085 a0002c0006t0002g0281 a0007c0007t0001g0089 a0007c0007t0001g0093 a0007c0007t0001g0094 a0008c0012t0001g0153 a0011c0009t0001g0118	133	326	0.4080	-109	c.-60 others(15): Show c.-60+847_-60+955del	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKN_chr6_161342417_162732766	162327537	GTTTCAAT others(102): Show GTTTCAATGTTAGGTTTTGAAAATGTTAGGTCCTTGACAATGGTTTTCTC TACAGTTTCAATGTTAGGTTTTGAAAATGTTAGGTCCTTGACAATGGTCT TCTCTACAGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG01884.hp1 others(9): Show HG01361.hp1 HG01361.hp2 HG01884.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03688.hp2 HG03704.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0003c0005t0001 a0003c0006t0002 a0005c0011t0011	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0023 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0006g0010 a0001c0001t0008g0020 a0001c0003t0002g0027 a0002c0002t0001g0016 a0002c0002t0003g0019 a0003c0005t0001g0026 a0003c0006t0002g0004 a0005c0011t0011g0009	12	32	0.3750	-109	c.172 others(19): Show c.172-64881_172-64773del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PSMB2_chr1_35594541_35646526	35640580	CCAGGATC others(102): Show CCAGGATCCCACCTTATGCCGCCAACAAACTAACCTCATTACTAGCGACA CCAGGAAACTTATCAGAGATTCGGGGATCTAGAGAGCCAGTCCCACAGTC TCACTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(18): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01069.hp2 HG01071.hp2 HG01243.hp1 HG02083.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp2 HG03239.hp1 HG03540.hp1 HG03927.hp1 HG04115.hp1 NA18992.hp1 NA18995.hp2 NA19009.hp1 NA19078.hp1 NA19079.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 others(2): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0021 a0001c0001t0034	a0001c0001t0008g0218 a0001c0001t0008g0220 a0001c0001t0008g0221 others(17): Show a0001c0001t0008g0218 a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0001t0008g0222 a0001c0001t0008g0224 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0014g0007 a0001c0001t0014g0217 a0001c0001t0014g0230 a0001c0001t0018g0219 a0001c0001t0018g0223 a0001c0001t0018g0225 a0001c0001t0021g0029 a0001c0001t0021g0229 a0001c0001t0034g0216	21	298	0.0705	-109	c.91+ others(13): Show c.91+653_91+761del	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PTPRH_chr19_55176247_55214501	55207589	GCCTGGGT others(102): Show GCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp1 HG03704.hp1 HG01243.hp2 HG02630.hp1 HG03704.hp1	a0001 a0026 a0037 a0001 a0026 a0037	a0001c0040 a0026c0108 a0037c0088 a0001c0040 a0026c0108 a0037c0088	a0001c0040t0001 a0026c0108t0002 a0037c0088t0001 a0001c0040t0001 a0026c0108t0002 a0037c0088t0001	a0001c0040t0001g0160 a0026c0108t0002g0040 a0037c0088t0001g0068 a0001c0040t0001g0160 a0026c0108t0002g0040 a0037c0088t0001g0068	3	376	0.0080	-109	c.52- others(13): Show c.52-499_52-391del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PXMP2_chr12_132682587_132709985	132694259	TAGTGAGC others(102): Show TAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTA GTGAGCTCCCTTAGTCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAG CGCCCTTGCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0042 others(2): Show a0001c0004t0004g0025 a0001c0004t0004g0026 a0001c0004t0004g0042 a0001c0004t0004g0043 a0001c0004t0005g0012	9	348	0.0259	-109	c.237 others(17): Show c.237-1621_237-1513del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RANGRF_chr17_8283670_8295087	8293914	TCTTTTTT others(102): Show TCTTTTTTTTTTTTTTTTGTGAGACGTAGCCTTGCTCTGTGGCCCAGGCT GGAGTGCAGTGACCGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	-109	c.39 others(11): Show c.3979_*4087del	RANGRF	ENSG00000108961.14	transcript	ENST00000226105.11	protein_coding		3828		chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79319798	CTGTCTGG others(102): Show CTGTCTGGGCTGTTGGTCTTGTCCAGGCTGCTGGTCTTGTCCGGGCTGCT AGTCTTGCCTGGGCTGCTGGTCCTGTCTGGGCTGCTGGTCCTTTCTGGGC TGCTGGTCTA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01175.hp2 others(8): Show HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02258.hp2 HG02300.hp1 HG02717.hp1 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009	a0001c0001t0001g0069 a0001c0001t0002g0138 a0001c0001t0002g0150 others(8): Show a0001c0001t0001g0069 a0001c0001t0002g0138 a0001c0001t0002g0150 a0001c0001t0005g0137 a0001c0001t0005g0144 a0001c0001t0007g0001 a0001c0001t0007g0062 a0001c0001t0020g0030 a0001c0002t0001g0063 a0001c0002t0005g0103 a0001c0002t0009g0041	11	82	0.1341	-109	c.-17 others(21): Show c.-174-12083_-174-11975del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79536573	TGGGCAAG others(102): Show TGGGCAAGCTCATCACCCTCGGGCCTCCTTGGCCACGGGTGTTTTCCCCT GAAGGAGCCGGCCACAGGGCATGCTTGCCCCGCCCCAGCGTAGCACTTTG CAGAGTCCCA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0101 a0001c0001t0006g0099 a0001c0001t0002g0101 a0001c0001t0006g0099	2	152	0.0132	-109	c.-31 others(21): Show c.-319-54084_-319-53976del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF126_chr19_642526_668214	667338	CGGACCAA others(102): Show CGGACCAAGCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCGG ACCAAGCCCAGGTGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACC AAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	431	0.0023	-109	c.-43 others(11): Show c.-4326_-4218del	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4125		chr19	TogoVar
RNF34_chr12_121395118_121429348	121403851	ATTGCTAT others(102): Show ATTGCTATTTACCTAGTTTAATAAAAAGTGAATGACTGTGTAGTAACATA TTAGAGTTTTGGCAAGCAAGATAGACTCTTACGAGAAGAGTCTATGGCAT TATTATTACC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	348	0.0029	-109	c.6+3 others(13): Show c.6+3670_6+3778del	RNF34	ENSG00000170633.17	transcript	ENST00000361234.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3AL_chr17_207389_357807	294818	AGCTGCAG others(102): Show AGCTGCAGAAATGGATGGACAGAGGGAATGCACATCAGTGTGGGAGGGAC AGAGATGCTGCAGAAATGGACAGCAGAGGGAATGCACATCAGTGTGGGAG GGACAGAGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG01070.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03540.hp2 HG03831.hp1 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA18947.hp1 NA18963.hp1 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19056.hp1 NA19056.hp2 NA19079.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011 a0003c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0003t0030 a0002c0011t0001 a0003c0005t0005 a0003c0005t0023 a0005c0009t0001	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 others(49): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0002g0010 a0001c0001t0002g0031 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0004g0008 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0005g0017 a0001c0001t0005g0132 a0001c0001t0006g0095 a0001c0001t0007g0032 a0001c0001t0008g0130 a0001c0001t0011g0007 a0001c0001t0012g0005 a0001c0001t0013g0055 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0014g0023 a0001c0001t0015g0041 a0001c0001t0016g0093 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0082 a0001c0001t0025g0076 a0001c0001t0027g0118 a0001c0001t0032g0004 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0003g0090 a0001c0002t0007g0112 a0001c0003t0030g0122 a0002c0011t0001g0016 a0003c0005t0005g0035 a0003c0005t0023g0125 a0005c0009t0001g0054	52	132	0.3939	-109	c.352 others(19): Show c.352-13073_352-12965del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	294942	TGGACAGA others(102): Show TGGACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGTAGAA ATGGAAAGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGATGCTGC AGAAATGGAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp1 NA18995.hp2 others(2): Show HG00408.hp1 NA18959.hp1 NA18995.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0026 a0001c0001t0001 a0001c0001t0002 a0001c0004t0026	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0002g0029 a0001c0004t0026g0013	5	130	0.0385	-109	c.352 others(19): Show c.352-13197_352-13089del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCAMP5_chr15_74990563_75026495	74991012	CTTTCTTT others(102): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	367	0.0027	-109	c.-47 others(11): Show c.-4709_-4601del	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4550		chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1289745	TCCCCCGT others(102): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	195	0.0051	-109	c.166 others(17): Show c.1663-522_1663-414del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDR16C5_chr8_56295005_56325175	56310168	GAGGAGGA others(102): Show GAGGAGGAGGAGGAGGAAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGA GGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGG AGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	391	0.0026	-109	c.466 others(17): Show c.466-1250_466-1142del	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SENP1_chr12_48037897_48111079	48056526	CATATATA others(102): Show CATATATAAATATATTATTTAATATATTACATATATAAATATATTATTTA ATATATTACATATATAAATATATTATTTAATATATTACATATATAAATAT ATTATTTAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp1 others(120): Show HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0010 others(1): Show a0001c0001 a0001c0005 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(120): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0008g0305 a0001c0001t0011g0101 a0001c0001t0011g0102 a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0005t0001g0085 a0001c0010t0001g0091 a0002c0004t0001g0370 a0002c0004t0001g0374	123	281	0.4377	-109	c.140 others(19): Show c.1407+7075_1407+7183del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SIGIRR_chr11_400716_419999	401504	CGGCCCCG others(102): Show CGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	220	0.0045	-109	c.42 others(11): Show c.4283_*4391del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4211		chr11	TogoVar
SIGIRR_chr11_400716_419999	402042	ACCCCCGG others(102): Show ACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACC CCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCAC TGACCCCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01934.hp1 HG02148.hp1 others(5): Show HG00621.hp1 HG01934.hp1 HG02148.hp1 HG02922.hp2 NA18612.hp1 NA18950.hp2 NA18964.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0098 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0161 a0006c0011t0001g0144	8	202	0.0396	-109	c.37 others(11): Show c.3745_*3853del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3673		chr11	TogoVar
SLX9_chr21_44935029_44981973	44978623	GGAGCGGG others(102): Show GGAGCGGGTGTGGGGCGGGTGTGGGGCGCGTGTGGGGCGGGTGTGGGGCG CGTGTGGGGCGGGTGTGGGGCACGTGTGGAACGTGTGTGGAACGTGTGTG GGGCGCGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	332	0.0030	-109	c.18 others(11): Show c.1821_*1929del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1651		chr21	TogoVar
SMIM10L2A_chrX_135416944_135433075	135430619	TATAATTT others(102): Show TATAATTTTTAGTGTGCATGTTTAAAATTTAAGGTTAGGAAGATTCTGGG AAGGTGGTGGAGTAGGAATCAGTCTCCCCACTGAGACAAAAATTGCACTG ACAGACCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	299	0.0033	-109	c.73 others(11): Show c.7350_*7458del	SMIM10L2A	ENSG00000178947.9	transcript	ENST00000417443.3	protein_coding		2545		chrX	TogoVar
SORCS2_chr4_7187538_7747827	7448888	CTCCCTCC others(102): Show CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCC CTTCCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02257.hp1 HG02486.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0039 a0001c0001 a0012c0039	a0001c0001t0003 a0012c0039t0049 a0001c0001t0003 a0012c0039t0049	a0001c0001t0003g0168 a0012c0039t0049g0064 a0001c0001t0003g0168 a0012c0039t0049g0064	2	168	0.0119	-109	c.548 others(19): Show c.548+52540_548+52648del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
STAC_chr3_36375504_36553007	36398515	GAAAGAGA others(102): Show GAAAGAGAGAGAAAGAAAGAAAGAGAGGTAAAGAGAAAGAGAGAGGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAAGGAGGGA AGGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00438.hp2 others(101): Show HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01255.hp1 HG01361.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0008t0016 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0056 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0291 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0004g0070 a0001c0001t0004g0302 a0001c0001t0004g0312 a0001c0001t0006g0215 a0001c0001t0006g0299 a0001c0001t0017g0286 a0001c0001t0018g0295 a0001c0008t0016g0230 a0003c0004t0001g0066 a0003c0004t0001g0233	104	312	0.3333	-109	c.111 others(19): Show c.111+17785_111+17893del	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36398539	GAGGTAAA others(102): Show GAGGTAAAGAGAAAGAGAGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGAAAGGAAGGAGGGAAGGAAGAGAAAAAGAGAGAGAAAG AAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02647.hp1 others(12): Show HG02451.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18939.hp1 NA18943.hp2 NA18959.hp1 NA18980.hp2 NA19004.hp1 NA19067.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 a0002c0003t0001 a0002c0003t0010 a0004c0011t0002	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0004g0236 others(12): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0004g0236 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0055 a0001c0002t0005g0024 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0245 a0002c0003t0010g0242 a0004c0011t0002g0243	15	312	0.0481	-109	c.111 others(19): Show c.111+17788_111+17896del	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STON1_chr2_48525154_48603513	48564478	TCTTTCTT others(102): Show TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT TCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0371 a0001c0008t0014g0371	1	358	0.0028	-109	c.-47 others(19): Show c.-47-16106_-47-15998del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
SV2B_chr15_91095257_91307565	91304430	GAAGGGAG others(102): Show GAAGGGAGAAAGAGAGATGGAGAGAGAGAGAAAAAGTGAGAGAAAGAAGG AGAGAGGGAGGGAGAAGAAGGGAGAGGGAGAGAAAAAGAGAGGGAGAGAG AGAAAAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19056.hp1 NA18944.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0054 a0001c0001t0003 a0001c0001t0054	a0001c0001t0003g0122 a0001c0001t0054g0035 a0001c0001t0003g0122 a0001c0001t0054g0035	2	212	0.0094	-109	c.11 others(13): Show c.11879_*11987del	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding		1866		chr15	TogoVar
SZT2_chr1_43384899_43459247	43397492	TACAGGAA others(102): Show TACAGGAAACAAACATTAAAGTATACAAATTCTTTTTTTTTTGAGATGGA GAGATGGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCA ATCTTGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19068.hp2 HG02135.hp1 NA19068.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0021 a0001c0016t0021	a0001c0016t0021g0191 a0001c0016t0021g0192 a0001c0016t0021g0191 a0001c0016t0021g0192	2	288	0.0069	-109	c.28- others(15): Show c.28-5682_28-5574del	SZT2	ENSG00000198198.17	transcript	ENST00000634258.3	protein_coding	1/71		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273479	ACACATCA others(102): Show ACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19079.hp1 HG00738.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0323 a0001c0003t0001g0318 a0001c0001t0001g0323 a0001c0003t0001g0318	2	385	0.0052	-109	c.228 others(19): Show c.2287-1308_2287-1200del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273681	GACCGCCA others(102): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCTGTGACCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp2 HG02698.hp2 others(2): Show HG00738.hp2 HG02258.hp2 HG02698.hp2 HG03017.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0293 a0001c0001t0001g0323 a0001c0001t0002g0115 others(2): Show a0001c0001t0001g0293 a0001c0001t0001g0323 a0001c0001t0002g0115 a0001c0002t0002g0067 a0001c0003t0001g0318	5	375	0.0133	-109	c.228 others(19): Show c.2287-1510_2287-1402del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS2_chr6_169210785_169258846	169217978	GATGGGTG others(102): Show GATGGGTGGATGGATGAGATGGGTGGGTGGATGGATGAGATGGGTCGGTG GGTGGGTGGATGAGATGGATGGATGGATGGATGGATGAAATGGATGGGTG GGTGGATGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp2 others(27): Show HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 NA18944.hp2 NA18956.hp2 NA18959.hp1 NA18964.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA19004.hp2 NA19070.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0005c0049	a0001c0001t0004 a0001c0004t0004 a0001c0004t0030 others(3): Show a0001c0001t0004 a0001c0004t0004 a0001c0004t0030 a0001c0005t0004 a0001c0007t0004 a0005c0049t0004	a0001c0001t0004g0055 a0001c0001t0004g0062 a0001c0001t0004g0090 others(25): Show a0001c0001t0004g0055 a0001c0001t0004g0062 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0095 a0001c0001t0004g0099 a0001c0001t0004g0106 a0001c0001t0004g0132 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0004t0004g0077 a0001c0004t0004g0119 a0001c0004t0004g0250 a0001c0004t0004g0254 a0001c0004t0004g0269 a0001c0004t0004g0271 a0001c0004t0004g0273 a0001c0004t0004g0296 a0001c0004t0030g0253 a0001c0005t0004g0317 a0001c0007t0004g0006 a0001c0007t0004g0057 a0001c0007t0004g0117 a0001c0007t0004g0121 a0001c0007t0004g0122 a0005c0049t0004g0111	30	394	0.0761	-109	c.351 others(17): Show c.3512-258_3512-150del	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
THSD7B_chr2_136760545_137682718	136890304	CTTCTTCT others(102): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTC TTCCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp2 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0019 a0001c0004 a0001c0019	a0001c0004t0003 a0001c0019t0016 a0001c0004t0003 a0001c0019t0016	a0001c0004t0003g0090 a0001c0019t0016g0091 a0001c0004t0003g0090 a0001c0019t0016g0091	2	57	0.0351	-109	c.139 others(17): Show c.139+7989_139+8097del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIAM2_chr6_154990315_155262723	155029066	ATACTATA others(102): Show ATACTATATATACTGTTATATATACACTGTATATACTATGTGTTATATAT ACACTGTATGTACTATGTGTTATATACACTATATGTACTATGTGTTATAT ACACTATATG	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0169 a0004c0011t0004g0169	1	223	0.0045	-109	c.-20 others(21): Show c.-209+33581_-209+33689del	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar

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