Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
HNF4A_chr20_44350699_44437845	44374344	TGAACTTG others(99): Show TGAACTTGGTTGAGGTTTTGTTCCCTTTTATGGCTGCATACTATTCCATA GTGTATATGTACCACATTTTCATTATCCATTCCACTGCTGATGGGCACTT AGGTTGA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	320	0.0031	-106	c.49+ others(17): Show c.49+18492_49+18597del	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9			chr20	TogoVar
HS3ST3A1_chr17_13489032_13606929	13501228	CGGTTAAA others(99): Show CGGTTAAAATGGTAAATTTTATGTTATGTGTTTTCTAAGATTAGAAGAGT TCTGGAGATTAATCACATAACAACGTGTATGTACTTAACACCACTGAACC TAACAGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0041 a0001c0006t0022 a0001c0006t0041	a0001c0006t0022g0004 a0001c0006t0041g0006 a0001c0006t0022g0004 a0001c0006t0041g0006	2	336	0.0060	-106	c.600 others(17): Show c.600-4516_600-4411del	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HSD17B11_chr4_87331515_87396188	87378823	TATATATA others(99): Show TATATATAAATATATATATATAAATATATATATAAATATATATAAATATA TATATATAAATATATATATATAAATATATATAAATATATATATATAAATA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp2 HG02145.hp2 HG00642.hp1 HG01361.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0010g0022 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0010g0022	3	368	0.0082	-106	c.318 others(17): Show c.318+3326_318+3431del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
IL3RA_chrX_1331785_1387689	1366748	GCGTGAGC others(99): Show GCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTG CGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCG GGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	112	0.0089	-106	c.874 others(17): Show c.874+1497_874+1602del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
INPP5A_chr10_132532787_132788480	132704869	AGCAGGCA others(99): Show AGCAGGCAGCTCCTCTGGAGTGTGGAGGATGGAGGAAGGGCGTCTGGACA GGCGGCAGGCAGCTCCTCTGGAGTGTGGAGGATGGAGGAAGGGCGTCTGG ACAGGCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03654.hp1 HG04184.hp1 HG02602.hp2 HG03654.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0007g0131 a0001c0001t0007g0137 a0001c0001t0007g0138	3	157	0.0191	-106	c.475 others(17): Show c.475-3392_475-3287del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITSN2_chr2_24197864_24365536	24251371	GTATATAT others(99): Show GTATATATGTATGTGTATATATATGTGTATATATATATGTGTGTATATAT ATGTGTATATATATGTGTGTATATATATGTGTATATATGTGTATATATAT GTGTATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0036 a0003c0007t0001g0036	1	200	0.0050	-106	c.312 others(17): Show c.3120+868_3120+973del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132160289	GGGGGGGG others(99): Show GGGGGGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGAT GCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTC TTATTGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0051 a0002c0004t0004g0051	1	153	0.0065	-106	c.222 others(19): Show c.2221-2914_2221-2809del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNIP4_chr4_20723606_21953772	21757167	GAAGGAAG others(99): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAA GAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 NA20752.hp2 HG02109.hp2 HG02809.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0060 a0001c0001t0008g0069 a0001c0001t0014g0077 a0001c0001t0001g0060 a0001c0001t0008g0069 a0001c0001t0014g0077	3	70	0.0429	-106	c.61+ others(19): Show c.61+191298_61+191403del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNV2_chr9_2712510_2735037	2722066	TTTATAAA others(99): Show TTTATAAATAAATTAGAAGTTATTTATAAATAAATTAGAAGTTATTTATA AATAAATTAGAAGTTATTTATAAATAAATTAGAAGTTATTTATAAATAAA TTAGAAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0004 a0009c0028t0004	a0009c0028t0004g0051 a0009c0028t0004g0051	1	438	0.0023	-106	c.135 others(19): Show c.1356+2976_1356+3081del	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KRT75_chr12_52419070_52439371	52420243	CCTGGTCA others(99): Show CCTGGTCATTGACTAGGAACACACTCTTCAACAGATGCCCTACCATATCC CTCCCCTGTGCCTTCTTCCTTTTCAATGCTAAGCTTTAGCCTTCTCCTCC AGGAAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	414	0.0024	-106	c.41 others(11): Show c.4168_*4273del	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3826		chr12	TogoVar
LAT2_chr7_74205006_74234834	74214517	TATATATA others(99): Show TATATATAAATATATATATGAATATATATATATATATATGAAAATATATA TATATGAAAATATATATATAAATATATATATGAAAATATATATAAATATA TATATGA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG01975.hp1 others(7): Show HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG06807.hp2 NA18969.hp1 NA19009.hp2 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0127 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0204 a0001c0001t0001g0216 a0006c0006t0001g0187	10	336	0.0298	-106	c.-21 others(17): Show c.-218-297_-218-192del	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214525	AATATATA others(99): Show AATATATATATGAATATATATATATATATATGAAAATATATATATATGAA AATATATATATAAATATATATATGAAAATATATATAAATATATATATGAA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	297	0.0034	-106	c.-21 others(17): Show c.-218-283_-218-178del	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF1_chr16_848634_975984	952917	GTCCACAC others(99): Show GTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGAC ACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTC CTACATA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0258 a0001c0005t0001g0258	1	187	0.0053	-106	c.503 others(17): Show c.503+1334_503+1439del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953181	CCCAAACC others(99): Show CCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCC TCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01517.hp1 HG02559.hp1 HG00099.hp1 HG01517.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251	3	285	0.0105	-106	c.503 others(17): Show c.503+1070_503+1175del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953438	CGGACCCC others(99): Show CGGACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACATATC CACACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	283	0.0035	-106	c.503 others(15): Show c.503+813_503+918del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953506	CACAGACA others(99): Show CACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAAC CAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTC CACACAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04228.hp2 NA18952.hp2 others(4): Show HG02055.hp2 HG04228.hp2 NA18952.hp2 NA18964.hp2 NA18995.hp1 NA19012.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0023 a0001c0001 a0001c0003 a0001c0023	a0001c0001t0001 a0001c0003t0001 a0001c0023t0001 a0001c0001t0001 a0001c0003t0001 a0001c0023t0001	a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 others(4): Show a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0248 a0001c0023t0001g0245	7	291	0.0241	-106	c.503 others(15): Show c.503+745_503+850del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953878	CCCCAAAC others(99): Show CCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGC TTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTC CACACAG	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	292	0.0034	-106	c.503 others(15): Show c.503+373_503+478del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953879	CCCAAACC others(99): Show CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCT TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCC ACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG02055.hp2 others(9): Show HG00280.hp1 HG00609.hp2 HG02055.hp2 HG02523.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18962.hp1 NA18967.hp2 NA19002.hp1 NA20752.hp2	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0001c0023 a0002c0007 a0024c0058	a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0011t0001 a0001c0023t0001 a0002c0007t0001 a0024c0058t0001	a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0181 others(9): Show a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0003t0001g0179 a0001c0011t0001g0151 a0001c0011t0001g0152 a0001c0023t0001g0245 a0002c0007t0001g0206 a0024c0058t0001g0236	12	278	0.0432	-106	c.503 others(15): Show c.503+372_503+477del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1459382	ACGTGTGT others(99): Show ACGTGTGTACGTGTAAGCCTCAGCATGAGTGCATGTGAGCCTCAGCATGA GTGCATGTTAGCATGTGTGTACATGCATAAGCCTCAGCATGAGTGCATGT TAGCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(238): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0015 a0001c0020 a0002c0005 a0002c0006 a0002c0016 a0005c0013 a0006c0017 a0007c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(37): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0015 a0001c0002t0023 a0001c0002t0036 a0001c0003t0001 a0001c0003t0006 a0001c0003t0009 a0001c0003t0014 a0001c0003t0016 a0001c0003t0033 a0001c0004t0004 a0001c0004t0005 a0001c0007t0004 a0001c0007t0022 a0001c0010t0001 a0001c0015t0004 a0001c0020t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0031 a0002c0005t0037 a0002c0006t0003 a0002c0006t0032 a0002c0006t0038 a0002c0016t0003 a0005c0013t0003 a0006c0017t0001 a0007c0011t0001	a0001c0001t0002g0036 a0001c0001t0002g0111 a0001c0001t0002g0115 others(230): Show a0001c0001t0002g0036 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0260 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0044 a0001c0001t0004g0052 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0299 a0001c0001t0004g0347 a0001c0001t0004g0363 a0001c0001t0006g0136 a0001c0001t0007g0082 a0001c0001t0007g0151 a0001c0001t0007g0259 a0001c0001t0021g0246 a0001c0001t0026g0025 a0001c0001t0027g0272 a0001c0001t0028g0348 a0001c0001t0029g0113 a0001c0002t0001g0027 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0201 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0319 a0001c0002t0001g0322 a0001c0002t0001g0339 a0001c0002t0001g0358 a0001c0002t0001g0362 a0001c0002t0004g0023 a0001c0002t0004g0096 a0001c0002t0004g0100 a0001c0002t0004g0150 a0001c0002t0006g0011 a0001c0002t0006g0056 a0001c0002t0006g0088 a0001c0002t0006g0120 a0001c0002t0006g0167 a0001c0002t0006g0203 a0001c0002t0006g0208 a0001c0002t0006g0313 a0001c0002t0006g0315 a0001c0002t0008g0004 a0001c0002t0008g0114 a0001c0002t0008g0130 a0001c0002t0008g0155 a0001c0002t0008g0331 a0001c0002t0008g0332 a0001c0002t0008g0333 a0001c0002t0008g0340 a0001c0002t0015g0286 a0001c0002t0015g0297 a0001c0002t0023g0243 a0001c0002t0036g0365 a0001c0003t0001g0002 a0001c0003t0001g0065 a0001c0003t0001g0073 a0001c0003t0001g0086 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0124 a0001c0003t0001g0131 a0001c0003t0001g0148 a0001c0003t0001g0162 a0001c0003t0001g0205 a0001c0003t0001g0213 a0001c0003t0001g0226 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0249 a0001c0003t0001g0266 a0001c0003t0001g0267 a0001c0003t0001g0270 a0001c0003t0001g0279 a0001c0003t0001g0310 a0001c0003t0001g0325 a0001c0003t0001g0334 a0001c0003t0001g0336 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0001g0352 a0001c0003t0006g0010 a0001c0003t0006g0074 a0001c0003t0006g0137 a0001c0003t0006g0152 a0001c0003t0006g0157 a0001c0003t0006g0158 a0001c0003t0006g0170 a0001c0003t0006g0172 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0178 a0001c0003t0006g0179 a0001c0003t0006g0181 a0001c0003t0006g0190 a0001c0003t0006g0206 a0001c0003t0006g0207 a0001c0003t0006g0225 a0001c0003t0006g0231 a0001c0003t0006g0235 a0001c0003t0009g0014 a0001c0003t0009g0041 a0001c0003t0009g0233 a0001c0003t0009g0237 a0001c0003t0009g0238 a0001c0003t0009g0268 a0001c0003t0014g0018 a0001c0003t0014g0019 a0001c0003t0016g0366 a0001c0003t0016g0367 a0001c0003t0033g0350 a0001c0004t0004g0068 a0001c0004t0004g0209 a0001c0004t0004g0210 a0001c0004t0004g0258 a0001c0004t0005g0288 a0001c0007t0004g0218 a0001c0007t0004g0254 a0001c0007t0004g0255 a0001c0007t0004g0257 a0001c0007t0022g0256 a0001c0010t0001g0264 a0001c0015t0004g0252 a0001c0020t0001g0265 a0002c0005t0003g0015 a0002c0005t0003g0022 a0002c0005t0003g0030 a0002c0005t0003g0049 a0002c0005t0003g0050 a0002c0005t0003g0067 a0002c0005t0003g0081 a0002c0005t0003g0102 a0002c0005t0003g0103 a0002c0005t0003g0110 a0002c0005t0003g0118 a0002c0005t0003g0119 a0002c0005t0003g0149 a0002c0005t0003g0169 a0002c0005t0003g0184 a0002c0005t0003g0186 a0002c0005t0003g0188 a0002c0005t0003g0192 a0002c0005t0003g0211 a0002c0005t0003g0241 a0002c0005t0003g0296 a0002c0005t0003g0301 a0002c0005t0003g0306 a0002c0005t0003g0323 a0002c0005t0003g0326 a0002c0005t0003g0327 a0002c0005t0003g0328 a0002c0005t0003g0330 a0002c0005t0003g0338 a0002c0005t0003g0353 a0002c0005t0003g0361 a0002c0005t0004g0146 a0002c0005t0004g0153 a0002c0005t0031g0217 a0002c0005t0037g0369 a0002c0006t0003g0031 a0002c0006t0003g0032 a0002c0006t0003g0104 a0002c0006t0003g0142 a0002c0006t0003g0200 a0002c0006t0003g0202 a0002c0006t0003g0204 a0002c0006t0003g0214 a0002c0006t0032g0247 a0002c0006t0038g0368 a0002c0016t0003g0147 a0005c0013t0003g0189 a0006c0017t0001g0099 a0007c0011t0001g0133	241	384	0.6276	-106	c.41 others(11): Show c.4163_*4268del	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding		2044		chr5	TogoVar
LPP_chr3_188149157_188895671	188784500	CATATATA others(99): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATTCCATCATATATATATTCCATCATATATATATATT CCATCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0005 a0001c0006t0033g0005	1	60	0.0167	-106	c.141 others(21): Show c.1410+24229_1410+24334del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRPAP1_chr4_3498612_3537422	3511843	AGAGCCGG others(99): Show AGAGCCGGACCCGAGCCTCTTCCAGGCTCAGACACGGGAAGGGAACCACG CTCGGAGCCGGACCCGAGCCTCTTCCAGGCTCAGACACGGGAAGGGAACC ACGCTCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0131 a0001c0001t0167g0131	1	122	0.0082	-106	c.10 others(11): Show c.1025_*1130del	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	1025		chr4	TogoVar
LSS_chr21_46183446_46233774	46184458	ACAACCCA others(99): Show ACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0252 a0001c0006t0007g0252	1	343	0.0029	-106	c.65 others(11): Show c.6540_*6645del	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3987		chr21	TogoVar
LYPD8_chr1_248734415_248760759	248742260	CGCTCTGG others(99): Show CGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGAT GTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGG AGGTTAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA20300.hp2 HG03710.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0119 a0001c0001t0001g0136	2	372	0.0054	-106	c.476 others(17): Show c.476-2517_476-2412del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19452245	GAAGAGAA others(99): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18960.hp1 HG04228.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0150 a0001c0001t0001g0136 a0001c0001t0001g0150	2	161	0.0124	-106	c.995 others(17): Show c.995+4562_995+4667del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MARS1_chr12_57483068_57521652	57493723	ATTATATT others(99): Show ATTATATTATATAATATATATTATATACATTATATTATATATATTATATA TAATATATATTATATATTATATATTATATTATATAATGTATATTATATAT ATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	272	0.0037	-106	c.770 others(17): Show c.770+3081_770+3186del	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MBD3L4_chr19_7032749_7045179	7035880	ATATATAA others(99): Show ATATATAATATAATTCTATAACATATAAATTATATTATATATAATATAAT TATATAACATATAAATTATATTATATATAATATAATTATATAACATATAA ATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	128	0.0078	-106	c.18 others(11): Show c.1875_*1980del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1868		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035880	ATATATAA others(99): Show ATATATAATATAATTCTATAACATATAAATTATATTATATATAATATAAT TATATAACATATAAATTATATTATATATAATATAATTATATAACATATAA ATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0008 a0006c0006t0001g0008	1	127	0.0079	-106	c.29 others(11): Show c.2987_*3092del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2870		chr19	TogoVar
MROH2A_chr2_233773330_233838418	233834412	TATGCTGT others(99): Show TATGCTGTCCAAAATCCAACCCGTGCTAAAGCCTTCTCTGGAACAGTGGT CTTCAAACTGTTTTGTGGAGCAAATGGTGACTTGATTTCCTGCCCAGTGA TAAAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0139 a0002c0139	a0002c0139t0001 a0002c0139t0001	a0002c0139t0001g0213 a0002c0139t0001g0213	1	376	0.0027	-106	c.11 others(11): Show c.1154_*1259del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding		995		chr2	TogoVar
MRPL41_chr9_137546879_137557555	137550618	AGGGTGCA others(99): Show AGGGTGCAGCTGGGGAGGGGGTGGATCCGGCGTGTAGGGGTACCGCTGGG GAGTGGGTGCAGCTGGGGAGGGGGTGGATCTGGGGTGTGGGGGTGCCGCT GGGGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	405	0.0025	-106	c.-13 others(11): Show c.-1368_-1263del	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		1260		chr9	TogoVar
MSH3_chr5_80649652_80881815	80693183	TTATATAG others(99): Show TTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATAT ACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTATAT GTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0193 a0003c0003t0003g0193	1	319	0.0031	-106	c.134 others(21): Show c.1340+14093_1340+14198del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693217	TTATATAG others(99): Show TTATATAGATAAATATACATGCACATGTATATGTTTATATAGATAAATAT ACATGCACATGTATATGTTTATATAGATAAATATACATGCACATGTATAT GTTTATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02683.hp1 HG02280.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0198 a0003c0003t0003g0204 a0003c0003t0003g0198 a0003c0003t0003g0204	2	338	0.0059	-106	c.134 others(21): Show c.1340+14127_1340+14232del	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MT1B_chr16_56646886_56658204	56654586	CAATCAAA others(99): Show CAATCAAAAAGGAAAATGAATTTCCTGGCCTAGAGATCAGGACCATGCTT ACCCACTGCTTCCCTGTGAAGAGGAGATTTCAGAGGGCAGCCTGAGCCTA GGACATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	-106	c.15 others(11): Show c.1522_*1627del	MT1B	ENSG00000169688.11	transcript	ENST00000334346.3	protein_coding		1383		chr16	TogoVar
MYH9_chr22_36276280_36392967	36316980	GTACCACC others(99): Show GTACCACCCTAAATGCACCCGATCTCATCAAAATAAGGCAGCAGTCTACG GCCATACCACCCTAAACGCGCCCAATCTCATCAAAATAAGGCAGCAGTCT ACGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18747.hp2 NA18943.hp1 others(4): Show HG02132.hp2 NA18747.hp2 NA18943.hp1 NA18966.hp1 NA18973.hp2 NA19011.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0043 a0001c0001t0004g0108 a0001c0001t0004g0123 others(4): Show a0001c0001t0001g0043 a0001c0001t0004g0108 a0001c0001t0004g0123 a0001c0001t0004g0136 a0001c0001t0004g0185 a0001c0001t0004g0203 a0001c0001t0004g0222	7	240	0.0292	-106	c.122 others(17): Show c.1228-417_1228-312del	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	11/40			chr22	TogoVar
MYOM2_chr8_2040046_2150456	2085762	CGTGATCT others(99): Show CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTT	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0156 a0003c0156	a0003c0156t0002 a0003c0156t0002	a0003c0156t0002g0279 a0003c0156t0002g0279	1	382	0.0026	-106	c.164 others(17): Show c.1644+382_1644+487del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086221	CTTTGTGG others(99): Show CTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGAT CTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0047 a0047	a0047c0061 a0047c0061	a0047c0061t0001 a0047c0061t0001	a0047c0061t0001g0216 a0047c0061t0001g0216	1	294	0.0034	-106	c.164 others(17): Show c.1644+833_1644+938del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2035310	CGGGTGCA others(99): Show CGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCA ATGCGGGTGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCT CCAATGT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0104 a0001c0002t0024g0104	1	102	0.0098	-106	c.-15 others(21): Show c.-158+18562_-158+18667del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64173542	CCTTTAGT others(99): Show CCTTTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCTTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	93	0.0108	-106	c.-99 others(17): Show c.-99+8804_-99+8909del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64174392	CCTGTAGT others(99): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGACTTCTCCTCCTGCAGCATCT TTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp1 HG04199.hp1 others(1): Show HG02735.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0023 a0001c0005t0001 a0001c0005t0003 a0001c0005t0023	a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0003g0029 others(1): Show a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0003g0029 a0001c0005t0023g0028	4	142	0.0282	-106	c.-99 others(17): Show c.-99+9654_-99+9759del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175092	CCTGTAGT others(99): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	201	0.0050	-106	c.-99 others(19): Show c.-99+10354_-99+10459del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175124	TCTCCTGT others(99): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTG GCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp1 HG01255.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0002g0210 a0001c0001t0001g0211 a0001c0001t0002g0210	2	203	0.0099	-106	c.-99 others(19): Show c.-99+10388_-99+10493del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175142	CCTGTAGT others(99): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCT TTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGCAGCATCT TTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	193	0.0052	-106	c.-99 others(19): Show c.-99+10404_-99+10509del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175424	TCTCCTGT others(99): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGACT TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCGTCTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04199.hp1 HG03942.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0030 a0001c0005t0001g0031	2	195	0.0103	-106	c.-99 others(19): Show c.-99+10692_-99+10797del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176174	TCTCCTGT others(99): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCG TCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTG GCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02040.hp2 HG02486.hp1 others(2): Show HG01169.hp1 HG02040.hp2 HG02486.hp1 HG03834.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0137 a0001c0001t0011g0124 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0137 a0001c0001t0011g0124 a0001c0001t0013g0026 a0001c0002t0002g0048	5	205	0.0244	-106	c.-99 others(19): Show c.-99+11442_-99+11547del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241805676	CCCCTCAG others(99): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	306	0.0033	-106	c.-36 others(11): Show c.-3601_-3496del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3516		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(99): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG02132.hp1 others(2): Show HG01943.hp1 HG01943.hp2 HG02132.hp1 NA18940.hp2 NA19004.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0008 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0005g0017 a0001c0001t0009g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0005g0017 a0001c0001t0009g0001 a0001c0002t0008g0025 a0005c0009t0001g0003	5	284	0.0176	-106	c.-31 others(11): Show c.-3116_-3011del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3031		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995086	AGTATGTA others(99): Show AGTATGTATATGTGTACAGTATGTATATGTGTACAGTATGTATATATGTA CAGTATGTATATATGTACAGTATGTATACTGTATATGTGTACAGTATGTA TGCTGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0098 a0001c0005t0006g0098	1	360	0.0028	-106	c.-75 others(19): Show c.-75+17876_-75+17981del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN2_chr6_123798865_124830640	123976298	CATATATA others(99): Show CATATATATGTTTCCATATATATATATGTTCCCATATATATATATGTTCC CATATATATATATATATATATTCCCATATATATATATATATATATATATA TATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0022 a0001c0002t0014g0022	1	66	0.0152	-106	c.54+ others(19): Show c.54+172053_54+172158del	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKD2_chr5_1003802_1043943	1039514	CGGTGCTG others(99): Show CGGTGCTGGGTGGGGTCTGTGGGAGGGGTTTGAGCCATGGCGGAAGATCC CTGGTGAATGGCTTGGATGTTTGTCGCCTCCGAGTCTCATGCTGAGACGT GATCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02145.hp2 others(24): Show HG00735.hp1 HG01099.hp1 HG02145.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04115.hp1 NA18962.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA21309.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0017 others(2): Show a0001c0001 a0001c0002 a0001c0017 a0004c0007 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0003 a0001c0017t0002 a0004c0007t0006 a0009c0011t0016	a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0224 others(21): Show a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0002g0100 a0001c0001t0002g0238 a0001c0001t0003g0006 a0001c0001t0003g0011 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0007g0025 a0001c0001t0007g0075 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0002t0003g0053 a0001c0017t0002g0171 a0004c0007t0006g0076 a0004c0007t0006g0077 a0009c0011t0016g0269	27	316	0.0854	-106	c.11 others(11): Show c.1142_*1247del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding		572		chr5	TogoVar
NLRP8_chr19_55942832_55993629	55993475	CCCTCCCT others(99): Show CCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTC CCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0280 a0002c0003t0005g0280	1	304	0.0033	-106	c.55 others(11): Show c.5563_*5668del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4847		chr19	TogoVar
NUBP1_chr16_10738842_10774351	10764742	AGTCTGCT others(99): Show AGTCTGCTGGAGTATGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTA TGTCAGTCTGTTGGAGCATCTCAGTCTGCTGGAGTATGTCAGTCTGTTGG AGCATCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(144): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02451.hp1 HG02523.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0003c0004t0001 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0005t0001g0215 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0246 a0003c0004t0001g0042 a0005c0006t0001g0141 a0006c0007t0001g0004	147	422	0.3483	-106	c.820 others(17): Show c.820+2954_821-3031del	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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