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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GLIS1_chr1_53501239_53744164	53621600	TTTATTTT others(100): Show TTTATTTTAACCATTTATAAAGATGACAACAATTTATGTTAGAAGAGATG GTTTTAGTTTTAGTAATACGTTTTCATTTTGTGTTCATAGCAGCATTTAA AAAATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18957.hp2 NA18966.hp2 others(4): Show HG00558.hp2 NA18957.hp2 NA18966.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19084.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0002c0006 a0015c0022 a0002c0002 a0002c0006 a0015c0022	a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0015c0022t0002	a0002c0002t0001g0108 a0002c0002t0001g0155 a0002c0002t0002g0106 others(4): Show a0002c0002t0001g0108 a0002c0002t0001g0155 a0002c0002t0002g0106 a0002c0002t0002g0152 a0002c0002t0002g0156 a0002c0006t0002g0107 a0015c0022t0002g0089	7	234	0.0299	-107	c.260 others(19): Show c.260-21429_260-21323del		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GPALPP1_chr13_44984538_45035305	45024203	GTGTGTTT others(100): Show GTGTGTTTTGAGACTGAGTCTCAATCTTCAAGTGTTTTTGCTTGGTATCC CCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTT	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	345	0.0029	-107	c.805 others(17): Show c.805-3580_805-3474del		GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GSTM4_chr1_109651099_109666700	109654114	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGA AAGGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	337	0.0030	-107	c.-22 others(11): Show c.-2275_-2169del		GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding					1984		chr1	TogoVar
GTF2H1_chr11_18317567_18372045	18350483	CTGAGGTC others(100): Show CTGAGGTCAGATTTGTTCCTGTACCATAAAGGGACTATTTAGAATCTTAA AGCTGGAGCAATTTAAAACGTTAAGTTTTCAGATTGAGGTCAGATTTGTG ACTTCATG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	368	0.0027	-107	c.105 others(19): Show c.1054-1311_1054-1205del		GTF2H1	ENSG00000110768.12	transcript	ENST00000265963.9	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr11	TogoVar
HERPUD2_chr7_35627659_35700135	35631807	ATATATTA others(100): Show ATATATTATATATAAATTATATATAAAAATTATATATAAATATATAAATA TATAAATTATATATAAATATATAAATATATAAATTATATATAAATATATA AATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	390	0.0026	-107	c.17 others(11): Show c.1776_*1882del		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding					851		chr7	TogoVar
HINT3_chr6_125951770_125985244	125962205	TATATACA others(100): Show TATATACACATATATATATATATATATATACACATATATATATATACACA CATATATATATATATACATACATATATATATACACATATATATATATATA TATCACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG01192.hp1 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0169 a0002c0002t0004g0029 a0002c0002t0004g0169	2	266	0.0075	-107	c.202 others(17): Show c.202-4676_202-4570del		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HSD17B11_chr4_87331515_87396188	87378853	TATAAATA others(100): Show TATAAATATATATAAATATATATATATAAATATATATATATAAATATATA TAAATATATATATATAAATATATATAAATATATATATATATATATTTATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0331 a0001c0002t0004g0331	1	377	0.0027	-107	c.318 others(17): Show c.318+3295_318+3401del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378854	ATAAATAT others(100): Show ATAAATATATATAAATATATATATATAAATATATATATATAAATATATAT AAATATATATATATAAATATATATAAATATATATATATATATATTTATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp2 HG03225.hp1 others(2): Show HG02809.hp2 HG02922.hp2 HG03225.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0016g0146 a0001c0002t0001g0180 a0001c0002t0002g0079 others(2): Show a0001c0001t0016g0146 a0001c0002t0001g0180 a0001c0002t0002g0079 a0001c0002t0004g0365 a0001c0002t0004g0366	5	387	0.0129	-107	c.318 others(17): Show c.318+3294_318+3400del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378856	AAATATAT others(100): Show AAATATATATAAATATATATATATAAATATATATATATAAATATATATAA ATATATATATATAAATATATATAAATATATATATATATATATTTATATAT ATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0353 a0001c0002t0004g0353	1	375	0.0027	-107	c.318 others(17): Show c.318+3292_318+3398del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
IL3RA_chrX_1331785_1387689	1366945	GGGGTGCG others(100): Show GGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGT GCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCC GGGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	107	0.0093	-107	c.874 others(17): Show c.874+1697_874+1803del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCA1_chr2_236319151_236512476	236491139	ACAGTATA others(100): Show ACAGTATATATATACACACAGTATATATATATATATATATATACACACAG TATATATATATATATATATATATACACACAGTATATATATATATATATAT ATACACAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp2 HG02647.hp2 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0009 a0002c0002 a0005c0009	a0002c0002t0009 a0005c0009t0005 a0002c0002t0009 a0005c0009t0005	a0002c0002t0009g0064 a0005c0009t0005g0065 a0002c0002t0009g0064 a0005c0009t0005g0065	2	206	0.0097	-107	c.456 others(17): Show c.456+2522_456+2628del		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18						chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132159950	GGGGCCTC others(100): Show GGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTACTTCTATGTCTTACT GGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATG CAGGCGGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0037 a0002c0031t0037	a0002c0031t0037g0088 a0002c0031t0037g0088	1	152	0.0066	-107	c.222 others(19): Show c.2221-3256_2221-3150del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161550	GTCTCTCC others(100): Show GTCTCTCCCTGTGTGATGCTGGGGGGTATCTCTCCCTGTGTGATGCTGGG GGGTGTCTCTCCCTGTGTGATGCTGGGGGGTGTCTCTCCCTGTGTGATGC TGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01175.hp1 others(3): Show HG00280.hp1 HG00642.hp1 HG01175.hp1 HG01346.hp1 HG03492.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0007	a0001c0001t0004 a0002c0004t0004 a0002c0008t0004 others(1): Show a0001c0001t0004 a0002c0004t0004 a0002c0008t0004 a0004c0007t0004	a0001c0001t0004g0128 a0002c0004t0004g0040 a0002c0004t0004g0051 others(3): Show a0001c0001t0004g0128 a0002c0004t0004g0040 a0002c0004t0004g0051 a0002c0004t0004g0142 a0002c0008t0004g0129 a0004c0007t0004g0092	6	150	0.0400	-107	c.222 others(19): Show c.2221-1658_2221-1552del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
KALRN_chr3_124028369_124731325	124628274	TTCCTTCC others(100): Show TTCCTTCCTTCCCTCCCTCCCTCCTTCATTCCCTCCCTCCCCCCTCCTTC CTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTCTTCTTTCCTTCCC TCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG03516.hp2 others(1): Show HG02451.hp2 HG02723.hp2 HG03516.hp2 NA18522.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0012 a0001c0059 a0003c0053 others(1): Show a0001c0012 a0001c0059 a0003c0053 a0008c0045	a0001c0012t0010 a0001c0059t0014 a0003c0053t0004 others(1): Show a0001c0012t0010 a0001c0059t0014 a0003c0053t0004 a0008c0045t0010	a0001c0012t0010g0077 a0001c0059t0014g0075 a0003c0053t0004g0094 others(1): Show a0001c0012t0010g0077 a0001c0059t0014g0075 a0003c0053t0004g0094 a0008c0045t0010g0076	4	114	0.0351	-107	c.518 others(19): Show c.5183-4134_5183-4028del		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
MAD1L1_chr7_1810795_2237945	1929809	CACTGCCA others(100): Show CACTGCCACGTCCCCTGCCCCGTCCCCACTGCCACGTCCCCTCATCCCGT CCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCAC CACGTCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG03471.hp2 HG01243.hp1 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263	3	262	0.0115	-107	c.180 others(19): Show c.1807+6771_1807+6877del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452250	GAAGAGAA others(100): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	156	0.0064	-107	c.995 others(17): Show c.995+4556_995+4662del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
METRNL_chr17_83074609_83100122	83090346	CACCCCCC others(100): Show CACCCCCCGCCCCAGGGTGGGAGCCACACACACACACACCCCCCCACACA CACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCC CCGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	398	0.0025	-107	c.557 others(17): Show c.557-2820_557-2714del		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3						chr17	TogoVar
MGAM_chr7_141990879_142111747	142042200	TATATAAC others(100): Show TATATAACATATTATATATACATATAATATATAACATATATTATATATAC ATATAATATATAACATATATTATATATACATATAATATATAACATATATT ATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0001 a0005c0025t0001	a0005c0025t0001g0004 a0005c0025t0001g0004	2	297	0.0067	-107	c.249 others(19): Show c.2498+1361_2498+1467del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544532	AGTTGTTG others(100): Show AGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTG GGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGAT TGGGCACT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	1	283	0.0035	-107	c.153 others(19): Show c.1539+1876_1540-1965del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767916	CGTGGAGG others(100): Show CGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGG GGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	379	0.0026	-107	c.159 others(17): Show c.1597-452_1597-346del		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110681009	TATATAAT others(100): Show TATATAATATATATTATATATTATATATTATATAATATATATTATATATT ATATATATAATATTATATATATTATATAATATATATTATATAATATATAT TATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0162 a0002c0004t0005g0162	1	324	0.0031	-107	c.80- others(15): Show c.80-1659_80-1553del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDST3_chr4_118029486_118263634	118066627	TATTATAT others(100): Show TATTATATATACATTATATATAACATGTTATATATTATATATACATTATA TATAACATGTTATATATTATATATACATTATATATAACATGTTATATATT ATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0211 a0001c0016t0003g0211	1	214	0.0047	-107	c.981 others(19): Show c.981+11747_981+11853del		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NDUFAF8_chr17_81234318_81246310	81242136	ACCGCAGT others(100): Show ACCGCAGTCCATCCCTGTGCATGCCAGACTCAGATGCCCTGCGCTGGCAC AAACCACCCGACCCGCCTCCCCAGCGTGCAGGGCCGGCTGCCCCCCACCC CTGCCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	286	0.0035	-107	c.11 others(11): Show c.1121_*1227del		NDUFAF8	ENSG00000224877.4	transcript	ENST00000431388.3	protein_coding					827		chr17	TogoVar
NFATC1_chr18_79390930_79534323	79532138	GTCCGCCT others(100): Show GTCCGCCTGCAGTCCCCGTGGCTGTCCCCTGTGCCTGCGTGCAGCACCCC TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG00738.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0050 a0001c0001t0001 a0001c0004t0050	a0001c0001t0001g0218 a0001c0004t0050g0296 a0001c0001t0001g0218 a0001c0004t0050g0296	2	314	0.0064	-107	c.45 others(11): Show c.4562_*4668del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					2816		chr18	TogoVar
NFIL3_chr9_91404045_91428832	91427107	GTTAGGCA others(100): Show GTTAGGCAAGCAATTCATTAAAAAATAAAAGACTGCACAGCCCACAGCTC CAATTATTCAAAAGAAAGTTGACTTTCTTTTTTTTGGTAAAATATCCTGA TTTTCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	452	0.0022	-107	c.-37 others(11): Show c.-3747_-3641del		NFIL3	ENSG00000165030.4	transcript	ENST00000297689.4	protein_coding					3276		chr9	TogoVar
NPIPB13_chr16_30217897_30253479	30224598	CAGCAGGT others(100): Show CAGCAGGTATCTTGATATTATCATCTGCTGAGAGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAA	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp2 HG01099.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0002 a0021c0055t0002	a0021c0055t0002g0136 a0021c0055t0002g0136	1	144	0.0069	-107	c.174 others(9): Show c.1741_1847del	p.Phe others(5): Show p.Phe581fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4590/6292	1741/3417	581/1138			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836413	CAGCAGGT others(100): Show CAGCAGGTATCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGA AGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGA GGGTGGAA	C C	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00741.hp1 HG01255.hp1 others(17): Show HG00544.hp1 HG00741.hp1 HG01255.hp1 HG01346.hp1 HG01934.hp2 HG01952.hp2 HG02135.hp2 HG03017.hp1 HG03453.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 NA18747.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA19012.hp2 NA19043.hp1	a0004 a0022 a0034 others(2): Show a0004 a0022 a0034 a0046 a0056	a0004c0006 a0004c0015 a0004c0064 others(5): Show a0004c0006 a0004c0015 a0004c0064 a0004c0065 a0022c0016 a0034c0063 a0046c0046 a0056c0073	a0004c0006t0001 a0004c0015t0001 a0004c0064t0001 others(5): Show a0004c0006t0001 a0004c0015t0001 a0004c0064t0001 a0004c0065t0001 a0022c0016t0001 a0034c0063t0001 a0046c0046t0001 a0056c0073t0001	a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(16): Show a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 a0004c0006t0001g0108 a0004c0006t0001g0115 a0004c0006t0001g0116 a0004c0006t0001g0117 a0004c0006t0001g0118 a0004c0006t0001g0119 a0004c0006t0001g0120 a0004c0015t0001g0092 a0004c0015t0001g0093 a0004c0015t0001g0095 a0004c0064t0001g0091 a0004c0065t0001g0090 a0022c0016t0001g0111 a0034c0063t0001g0084 a0046c0046t0001g0047 a0056c0073t0001g0096	20	204	0.0980	-107	c.186 others(9): Show c.1867_1973del	p.Phe others(5): Show p.Phe623fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2188/4020	1867/3669	623/1222			chr16	TogoVar
NR3C1_chr5_143272934_143408686	143282834	CAGTGGCA others(100): Show CAGTGGCATAATCATAGCTCACTGGAGCCTTGACCTCCTTGGCTCAAGTG ATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGACTGTAGGCACAAGCCAC CATGTCTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02074.hp2 HG02135.hp1 others(4): Show HG02027.hp1 HG02074.hp2 HG02135.hp1 NA18982.hp2 NA19001.hp2 NA19057.hp2 NA19070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0008 a0001c0005t0009g0249 a0001c0005t0009g0250 others(3): Show a0001c0005t0009g0008 a0001c0005t0009g0249 a0001c0005t0009g0250 a0001c0005t0009g0251 a0001c0005t0009g0252 a0001c0005t0009g0257	7	264	0.0265	-107	c.202 others(17): Show c.2024-216_2024-110del		NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding	7/8						chr5	TogoVar
P2RX1_chr17_3891592_3921465	3905863	AAAAAAGG others(100): Show AAAAAAGGAAAGAAAGAAACTGCTAATTCAAATACTCTTTCCAATCCTTT TCCAAGAACAGAGTTTGCTGGGGCCTGGAGGCCAAGCCTCCTCCTTCCAG GGTGCTCC	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	376	0.0027	-107	c.138 others(15): Show c.138-603_138-497del		P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	1/11						chr17	TogoVar
PAQR5_chr15_69293912_69412780	69300595	TTCTTTCT others(100): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTC TCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0194 a0002c0002t0003g0194	1	282	0.0035	-107	c.-27 others(19): Show c.-277+1586_-277+1692del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44112995	CTAACTAA others(100): Show CTAACTAAGGCCCTGCACCAGCACAGATACATTGTTACTAAGGCCCTACA CCAGCACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACGTTG TTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01109.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0198 a0001c0001t0003g0227 a0001c0001t0002g0198 a0001c0001t0003g0227	2	330	0.0061	-107	c.274 others(17): Show c.274-6039_274-5933del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113641	GTTACTAA others(100): Show GTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGGCCC TGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAACACAA ATACGTTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0149 a0001c0002t0001g0118 a0001c0001t0008g0149 a0001c0002t0001g0118	2	329	0.0061	-107	c.274 others(17): Show c.274-5388_274-5282del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115711	AACTAAGG others(100): Show AACTAAGGCCCTACAGCAACACAGATACATTGTTATTAACTAAGGCCCTG CACCAACACAGATACATTGTTAGTAACTAAGGCCCTGCACCAACACAGAT ACATTGTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0149 a0001c0002t0001g0118 a0001c0001t0008g0149 a0001c0002t0001g0118	2	330	0.0061	-107	c.274 others(17): Show c.274-3312_274-3206del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PCBP3_chr21_45638725_45947450	45815616	AGTGAGTG others(100): Show AGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGGTG AGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGT GATGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	290	0.0034	-107	c.-12 others(21): Show c.-125-34337_-125-34231del		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK2_chr20_17222040_17489578	17287366	ACTTGCAA others(100): Show ACTTGCAAATATTTATTCATGAGGTCGGGAGGCATTTCAGGGATCTTGCA CCAGCATGTGCGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT AAAATGGG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA20300.hp1 HG01978.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0121 a0001c0001t0015g0044 a0001c0001t0013g0121 a0001c0001t0015g0044	2	272	0.0074	-107	c.282 others(19): Show c.282+27023_282+27129del		PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11						chr20	TogoVar
PEX5_chr12_7184686_7216459	7196865	GTAATAAT others(100): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATA TAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTCACATA TAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03834.hp1 HG01993.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0156 a0001c0001t0001g0139 a0001c0001t0001g0156	2	413	0.0048	-107	c.449 others(17): Show c.449-2141_449-2035del		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIGQ_chr16_564968_589109	585182	TCCACCAA others(100): Show TCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCG GGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCAC CGGGTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02148.hp2 NA18973.hp1 HG01993.hp2 HG02148.hp2 NA18973.hp1	a0003 a0013 a0003 a0013	a0003c0011 a0013c0019 a0003c0011 a0013c0019	a0003c0011t0007 a0013c0019t0007 a0003c0011t0007 a0013c0019t0007	a0003c0011t0007g0294 a0003c0011t0007g0297 a0013c0019t0007g0139 a0003c0011t0007g0294 a0003c0011t0007g0297 a0013c0019t0007g0139	3	406	0.0074	-107	c.21 others(11): Show c.2148_*2254del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding					1074		chr16	TogoVar
PIWIL3_chr22_24714034_24779720	24773259	TGTCCCTT others(100): Show TGTCCCTTCCCCCTTTTCCATACTCCTGCCTTCCTGCATGCCCTGCACAG GAACCCTCTTCCCTTCTCCTTTTGCCAAAAGAATTCAGAAGATACCAACT TTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	384	0.0026	-107	c.-23 others(16): Show c.-23+956_-23+1062del		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20						chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50343886	CCCTCCAG others(100): Show CCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCCAGTCAGTTTCCCC CCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCA GTCAGTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0187 a0001c0002t0005g0187	1	333	0.0030	-107	c.-14 others(17): Show c.-148+339_-148+445del		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PSME4_chr2_53859069_53975993	53868456	AAATATAT others(100): Show AAATATATATTATAAAATATATTTATAATATATATATATATGATATATAT TATAAAATATATTTATAATATATATAATATATATTATAAATATATTTATA ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(63): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19091.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0011 a0014 a0015 a0016	a0001c0005 a0001c0007 a0001c0009 others(6): Show a0001c0005 a0001c0007 a0001c0009 a0004c0008 a0005c0011 a0011c0016 a0014c0026 a0015c0028 a0016c0024	a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 others(8): Show a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 a0001c0007t0001 a0001c0009t0001 a0004c0008t0001 a0005c0011t0001 a0011c0016t0001 a0014c0026t0001 a0015c0028t0001 a0016c0024t0001	a0001c0005t0001g0182 a0001c0005t0001g0311 a0001c0005t0001g0313 others(63): Show a0001c0005t0001g0182 a0001c0005t0001g0311 a0001c0005t0001g0313 a0001c0005t0001g0314 a0001c0005t0001g0315 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 a0001c0005t0001g0319 a0001c0005t0001g0320 a0001c0005t0001g0321 a0001c0005t0001g0322 a0001c0005t0001g0323 a0001c0005t0001g0324 a0001c0005t0001g0325 a0001c0005t0001g0326 a0001c0005t0001g0327 a0001c0005t0001g0328 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0005t0001g0332 a0001c0005t0001g0333 a0001c0005t0001g0334 a0001c0005t0001g0335 a0001c0005t0001g0336 a0001c0005t0001g0337 a0001c0005t0001g0338 a0001c0005t0001g0341 a0001c0005t0001g0342 a0001c0005t0001g0343 a0001c0005t0001g0344 a0001c0005t0001g0345 a0001c0005t0001g0346 a0001c0005t0001g0347 a0001c0005t0001g0348 a0001c0005t0001g0349 a0001c0005t0001g0350 a0001c0005t0001g0351 a0001c0005t0001g0352 a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0372 a0001c0005t0001g0373 a0001c0005t0007g0331 a0001c0005t0009g0220 a0001c0005t0009g0221 a0001c0007t0001g0361 a0001c0009t0001g0360 a0001c0009t0001g0365 a0001c0009t0001g0366 a0001c0009t0001g0367 a0001c0009t0001g0369 a0001c0009t0001g0370 a0004c0008t0001g0376 a0004c0008t0001g0377 a0004c0008t0001g0378 a0004c0008t0001g0379 a0004c0008t0001g0380 a0004c0008t0001g0381 a0004c0008t0001g0382 a0004c0008t0001g0383 a0005c0011t0001g0364 a0011c0016t0001g0339 a0014c0026t0001g0013 a0015c0028t0001g0368 a0016c0024t0001g0312	66	382	0.1728	-107	c.526 others(17): Show c.5263+813_5263+919del		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	44/46						chr2	TogoVar
QRFP_chr9_130887707_130901812	130898965	TCCCCACC others(100): Show TCCCCACCTCTGCCCCTCCCTCCTCTGCCCCCACCTCTACCCGCAACTCT GGCCTCCCACCTCTGCCTCCCCACCTCTGCCCCTCCCTCCTCTGCCCCCA CCTCTACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02056.hp2 others(49): Show HG00735.hp2 HG01361.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18951.hp2 NA18964.hp2 NA18966.hp1 NA18979.hp1 NA18983.hp2 NA19002.hp1 NA19005.hp1 NA19043.hp1 NA19057.hp2 NA19077.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0002c0004 a0003c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 others(12): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0020 a0001c0003t0018 a0001c0008t0011 a0001c0008t0017 a0001c0012t0004 a0002c0004t0019 a0003c0005t0007	a0001c0001t0004g0006 a0001c0001t0004g0025 a0001c0001t0004g0026 others(23): Show a0001c0001t0004g0006 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0007g0076 a0001c0001t0012g0028 a0001c0002t0001g0080 a0001c0002t0003g0072 a0001c0002t0003g0078 a0001c0002t0003g0095 a0001c0002t0005g0014 a0001c0002t0005g0038 a0001c0002t0005g0068 a0001c0002t0007g0079 a0001c0002t0008g0008 a0001c0002t0020g0070 a0001c0003t0018g0045 a0001c0008t0011g0024 a0001c0008t0017g0043 a0001c0012t0004g0048 a0002c0004t0019g0049 a0003c0005t0007g0077 a0003c0005t0007g0094	52	426	0.1221	-107	c.-27 others(11): Show c.-2781_-2675del		QRFP	ENSG00000188710.3	transcript	ENST00000623824.2	protein_coding					2154		chr9	TogoVar
RAB40C_chr16_585066_634268	585182	TCCACCAA others(100): Show TCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCG GGTCCACCAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCAC CGGGTCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG02148.hp2 NA18973.hp2 HG01993.hp2 HG02148.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0032g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0032g0017	3	348	0.0086	-107	c.-51 others(11): Show c.-5109_-5003del		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding					4883		chr16	TogoVar
RBM26_chr13_79313868_79411255	79372874	ATATTTTA others(100): Show ATATTTTATATGCTATATAAAATATATCTTATATATTACATATTTTATAT AATATATAAGATATATCTTATATATTACATATTTTATATAATATATAAGA TATATCTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp2 HG01169.hp1 others(8): Show HG00733.hp1 HG01168.hp2 HG01169.hp1 HG02647.hp1 HG02698.hp2 HG02895.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0012 a0001c0002t0001g0194 a0001c0002t0001g0195 others(7): Show a0001c0002t0001g0012 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0247 a0001c0002t0003g0196 a0001c0002t0003g0200	11	317	0.0347	-107	c.328 others(16): Show c.328-1051_328-945del		RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21						chr13	TogoVar
RGS12_chr4_3288021_3444913	3309502	CGGGAAAT others(100): Show CGGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGG GGCCTGGGAATGGCAGGTGTCTGCTGAGGGGAACTGTGTTGAGGAGGAGC TGGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp2 HG02559.hp1 NA18522.hp2	a0005 a0005	a0005c0012 a0005c0053 a0005c0012 a0005c0053	a0005c0012t0001 a0005c0053t0001 a0005c0012t0001 a0005c0053t0001	a0005c0012t0001g0138 a0005c0053t0001g0139 a0005c0012t0001g0138 a0005c0053t0001g0139	2	287	0.0070	-107	c.-10 others(19): Show c.-101-6562_-101-6456del		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3310061	CGTGTGGG others(100): Show CGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGTGTCCTCTGAGGA GAGCTGAGCAGGAGAGGAGCTGGGGCCTGGGAATGGCAGGTGTCTGCTGA GGGGAACT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp2 HG02132.hp1 others(9): Show HG01981.hp1 HG02004.hp2 HG02132.hp1 HG02559.hp1 HG02683.hp2 HG02970.hp1 HG03710.hp1 HG04184.hp1 NA18522.hp2 NA19043.hp1 NA19080.hp2 NA20752.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0012 others(3): Show a0001c0001 a0001c0002 a0005c0012 a0005c0053 a0006c0015 a0006c0046	a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0005c0012t0001 a0005c0053t0001 a0006c0015t0002 a0006c0046t0002	a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0002t0001g0163 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0063 a0001c0002t0001g0163 a0001c0002t0001g0222 a0005c0012t0001g0138 a0005c0053t0001g0139 a0006c0015t0002g0091 a0006c0015t0002g0093 a0006c0015t0002g0094 a0006c0015t0002g0095 a0006c0015t0002g0096 a0006c0046t0002g0092	12	310	0.0387	-107	c.-10 others(19): Show c.-101-6004_-101-5898del		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNX1_chr21_34782801_35054302	34839240	CCACCGAC others(100): Show CCACCGACACACACACTCGGAATGTACACTCAGTGCACCTAGAAATTCAA CACCCACGGACACACACACTCAGATATGTACACTCAGTGCACCTAGAAAT TCAACACT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	168	0.0060	-107	c.614 others(17): Show c.614-4746_614-4640del		RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8						chr21	TogoVar
SCGB1C2_chr17_132569_144067	139266	TACAGAGG others(100): Show TACAGAGGATCCTACTCAAGGAGCACACGTGCGAAAGTCCCCCACAGAGG GACACACAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAG ACCCACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG02055.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	402	0.0050	-107	c.32 others(9): Show c.325_*431del		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					200		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289821	TCCCCCGT others(100): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	208	0.0048	-107	c.166 others(17): Show c.1663-446_1663-340del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP1_chr12_48037897_48111079	48056917	TAATATAT others(100): Show TAATATATTATTTAATATATTACATATTACATATATAATATATTATTTAA TATATTACATATTACATATATAAATATATTATTTAATATATTACATATTA CATATATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	382	0.0026	-107	c.140 others(19): Show c.1407+6686_1407+6792del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SENP1_chr12_48037897_48111079	48056939	CATATTAC others(100): Show CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA AATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAA TATATTAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	358	0.0028	-107	c.140 others(19): Show c.1407+6664_1407+6770del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar

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