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
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(179): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	426	0.0024	186	c.-86 others(195): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(179): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAATATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0151 a0002c0015t0001g0152 a0002c0015t0001g0151 a0002c0015t0001g0152	2	364	0.0055	186	c.418 others(203): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATATTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(179): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19003.hp2 NA18966.hp1 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0164 a0002c0002t0002g0161 a0002c0002t0002g0164	2	364	0.0055	186	c.418 others(203): Show c.418-4897_418-4712dupAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAG2_chr14_105135995_105173776	105162486	T T	TACCCCAG others(179): Show TACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGG CACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGG CACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAG CACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 HG02922.hp2 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	2	364	0.0055	186	c.418 others(203): Show c.418-4909_418-4724dupGTCCTGGGCTTTAAGGTGCCCTGGACCT TGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGC TTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGC CATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGA CCTGGGGT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
KATNIP_chr16_27545144_27785344	27713728	T T	TATATATA others(179): Show TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATTATATATATGTGTGTGTATATATATACACATACATATTATATAT ATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0003 a0014c0019t0003	a0014c0019t0003g0100 a0014c0019t0003g0100	1	152	0.0066	186	c.160 others(205): Show c.1605+4808_1605+4809insATATATACACATACATATTATATATA TGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATAT ATATACACATACATATTATATATATGTGTGTGTATATATATACACATACA TATTATATATATGTGTGTGTATATATATACACATACATATTATATATATG TGTGTGTATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KCNG2_chr18_79792938_79905100	79831252	G G	GACAGAGC others(179): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGCGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGTACAGAGCCTTCGTCAGGAGGGTTCCCTGCGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG03579.hp2 HG02559.hp2 HG02615.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233	3	312	0.0096	186	c.-11 others(207): Show c.-114-25067_-114-25066insATACAGAGCCTTCGTCAGGAGGGT TCCCTGCGGACAGAGCCTTCGTCAGGAGCGTTCCCTGCGGACAGAGCCTT CGTCAGGAGGGTTCCCTGCGTACAGAGCCTTCGTCAGGAGGGTTCCCTGC GTACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGG AGGGTTCCCTGC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(179): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATTAAAATAT ATACATATATTTATATATAAAATATATACATATATTTATATATATATAAA TATATACATATATTTATATATATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	164	0.0061	186	c.211 others(207): Show c.2113-34241_2113-34240insTATATATTTTATATATATATATAA ATATATGTATATATTTATATATATATAAATATATGTATATATTTTATATA TAAATATATGTATATATTTTAATATATAAATATATGTATATATTTTAATA TATAAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGC ATTAAATATATG	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH7_chr2_162366407_162843767	162752903	A A	AAAAAAGA others(179): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19074.hp2 HG01106.hp2 NA19074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0097 a0001c0003t0001g0093 a0001c0003t0001g0097	2	100	0.0200	186	c.307 others(205): Show c.307+83633_307+83634insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNMA1_chr10_76879882_77642808	77520049	A A	AGGTCTGG others(179): Show AGGTCTGGAGTATGCAGTGTGAGGGTGTGCAGTGTGAGGTCCGGGGTATG CAGTGTGAGGGTGTGCAGTGTGAGGTCTGGCATATGCAGTGTGAGGGCTG GGGTATGCAGTGTGAGGGTGTGCAGTGTGAGGTCTGGAGTATGCAGTGTG AGGGTGTGCATTGTGAGGTCCGGGGTATGCAGTGTGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03540.hp1 HG02738.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0012 a0001c0001t0009 a0001c0002t0012	a0001c0001t0009g0035 a0001c0002t0012g0050 a0001c0001t0009g0035 a0001c0002t0012g0050	2	106	0.0189	186	c.379 others(207): Show c.379-116027_379-116026insGCACACTGCATACCCCGGACCTCA CAATGCACACCCTCACACTGCATACTCCAGACCTCACACTGCACACCCTC ACACTGCATACCCCAGCCCTCACACTGCATATGCCAGACCTCACACTGCA CACCCTCACACTGCATACCCCGGACCTCACACTGCACACCCTCACACTGC ATACTCCAGACC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(179): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCT CCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	308	0.0033	186	c.-25 others(205): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(179): Show TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	308	0.0033	186	c.-25 others(205): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTC TTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(179): Show TTATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATTATAGATATTATCTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02129.hp2 HG02300.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp2 HG03831.hp2 HG03927.hp1 NA18965.hp2 NA18975.hp1 NA18982.hp2 NA19055.hp1 NA19057.hp2 NA19079.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0016 a0022 a0042	a0001c0001 a0001c0004 a0001c0028 others(16): Show a0001c0001 a0001c0004 a0001c0028 a0001c0038 a0001c0039 a0001c0047 a0001c0066 a0001c0140 a0001c0142 a0002c0016 a0002c0023 a0002c0036 a0003c0011 a0003c0093 a0004c0006 a0004c0027 a0016c0061 a0022c0062 a0042c0088	a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0005 a0001c0028t0008 a0001c0038t0001 a0001c0039t0002 a0001c0047t0001 a0001c0066t0001 a0001c0140t0001 a0001c0142t0002 a0002c0016t0001 a0002c0023t0001 a0002c0036t0001 a0003c0011t0001 a0003c0093t0001 a0004c0006t0001 a0004c0027t0001 a0016c0061t0001 a0022c0062t0001 a0042c0088t0001	a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 others(41): Show a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0227 a0001c0004t0005g0395 a0001c0004t0005g0396 a0001c0028t0008g0201 a0001c0038t0001g0222 a0001c0038t0001g0232 a0001c0039t0002g0206 a0001c0039t0002g0216 a0001c0047t0001g0111 a0001c0066t0001g0235 a0001c0140t0001g0342 a0001c0142t0002g0341 a0002c0016t0001g0203 a0002c0016t0001g0214 a0002c0016t0001g0221 a0002c0023t0001g0218 a0002c0023t0001g0219 a0002c0036t0001g0223 a0003c0011t0001g0187 a0003c0011t0001g0188 a0003c0011t0001g0225 a0003c0093t0001g0234 a0004c0006t0001g0048 a0004c0006t0001g0204 a0004c0006t0001g0209 a0004c0006t0001g0220 a0004c0006t0001g0224 a0004c0006t0001g0226 a0004c0027t0001g0343 a0016c0061t0001g0015 a0022c0062t0001g0014 a0042c0088t0001g0215	44	414	0.1063	186	c.480 others(201): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240781443	A A	ACAGCTCC others(179): Show ACAGCTCCACACACACACACACACAGCTCCACACACACACACAGCTCCAC ACACACACAGCTCCACACACACACACAGCTCCACACACACACACACACAC AGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACAC ACACACACAGCTCCACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0208 a0001c0005t0001g0208	1	330	0.0030	186	c.882 others(203): Show c.882+1146_882+1147insGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGGAGCTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169749968	T T	TATATGTG others(179): Show TATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATG TGTATATATACGTATGTATGTATACATATGTGTATATATACGTATGTATG TATACATATATGTGTATATATACGTGTGTATGTATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG03239.hp2 HG03654.hp2 others(3): Show HG00280.hp1 HG03239.hp2 HG03654.hp2 HG03831.hp2 HG04228.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0120 a0001c0001t0017 a0001c0001t0120	a0001c0001t0017g0017 a0001c0001t0017g0084 a0001c0001t0017g0085 others(3): Show a0001c0001t0017g0017 a0001c0001t0017g0084 a0001c0001t0017g0085 a0001c0001t0017g0159 a0001c0001t0017g0160 a0001c0001t0120g0017	6	400	0.0150	186	c.24 others(195): Show c.240_*241insGTGTATATATACGTATGTATGTATACATATATGTGT ATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGT ATACATATGTGTATATATACGTATGTATGTATACATATGTGTATATATAC GTATGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	241	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750104	A A	ATACGTAT others(179): Show ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTGTGTATGTATACATATATGTGTATATATACGTGTGTATGTATACATAT ATGTGTATATATACGTGTGTATGTATACATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0308 a0001c0001t0088g0308	1	400	0.0025	186	c.37 others(195): Show c.374_*375insCGTATGTATGTATACATATATGTGTATATATACGTA TGTATGTATACATATATGTGTATATATACGTATGTATGTATACATATATG TGTATATATACGTGTGTATGTATACATATATGTGTATATATACGTGTGTA TGTATACATATATGTGTATATATACGTGTGTATGTATACATATATGTGTA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	375	INFO_REALIGN_3_PRIME	chr2	TogoVar
LAMA2_chr6_128878138_129521566	129200312	A A	ATACACGT others(179): Show ATACACGTGTACACATATACATGTGTATATATATACACGTGTACACATAT ACATGTGTATATATATATACACGTGTACACATATACATGTGTATATATAT ATACGTGTACACATATACATGTGTATATATATATACGTGTACACATATAC ATATACACGTATATGTGTACACATATACATATACACG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0002 a0034c0045t0002	a0034c0045t0002g0006 a0034c0045t0002g0006	1	88	0.0114	186	c.178 others(205): Show c.1782+7461_1782+7462insCACGTGTACACATATACATGTGTATA TATATACACGTGTACACATATACATGTGTATATATATATACACGTGTACA CATATACATGTGTATATATATATACGTGTACACATATACATGTGTATATA TATATACGTGTACACATATACATATACACGTATATGTGTACACATATACA TATACACGTA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMB1_chr7_107918799_108008161	107977012	T T	TCCTTCCT others(179): Show TCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTC CTTCCTTTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCT TTCCTCTCCCTCCTTCCTTCCTTTCCTCTCCTTCCTTCCTTTCCTCTCCC TCCTTCCTTCCTTTCCTCTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0001 a0002c0054t0001	a0002c0054t0001g0181 a0002c0054t0001g0181	1	364	0.0028	186	c.100 others(205): Show c.1000+1034_1000+1035insGAAAGGAAGGAAGGAGGGAGAGGAAA GGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGAGGAAAGGAAGGAAGG AGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAG AGGAAAGGAAGGAAGGAGGGAGAGGAAAGGAAGGAAGGAGGGAGAGGAAA GGAAGGAAGG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LMF1_chr16_848634_975984	858178	A A	ACGGGATG others(179): Show ACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0052 a0001c0008t0001g0052	1	294	0.0034	186	c.153 others(205): Show c.1530-3473_1530-3472insAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCAC ACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858356	C C	CGTGGTGT others(179): Show CGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	294	0.0034	186	c.153 others(205): Show c.1530-3651_1530-3650insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCC GTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859762	G G	GGTGTGAG others(179): Show GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGTTG TGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGCATGGGTGTGC AGTGGTGTCTCGGCATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0030 a0001c0004t0004g0030	1	294	0.0034	186	c.153 others(205): Show c.1530-5057_1530-5056insGCATCCCGTGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTCACACCCATGCC GAGACACCACTGCACACCCATGCCGAGACACCACTCACACCCATCCCGAG ACACCACTGCACAACCATCCCGAGACACCACTCACACCCATCCCGTGACA CCACTCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953238	T T	TGTCCACA others(179): Show TGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCTTCCTACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA20905.hp1 HG02148.hp1 NA20905.hp1	a0001 a0020 a0001 a0020	a0001c0001 a0020c0061 a0001c0001 a0020c0061	a0001c0001t0001 a0020c0061t0001 a0001c0001t0001 a0020c0061t0001	a0001c0001t0001g0201 a0020c0061t0001g0154 a0001c0001t0001g0201 a0020c0061t0001g0154	2	294	0.0068	186	c.503 others(203): Show c.503+1118_503+1119insGTGTAGGAAGCTGGTTTGGGGTGGGTGT CTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGT GTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGG TTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCT GTGTGGAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953273	A A	ACACGTCC others(179): Show ACACGTCCACACAGACACCCACTCCAAACCAGCCTCTTACACGTCCACAC AGACACGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGGACCC CAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTC CTGCACGTCCACACACCCACCCCAAACCAGCCTCCTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03225.hp2 HG00323.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0019t0001 a0001c0001t0001 a0001c0019t0001	a0001c0001t0001g0165 a0001c0019t0001g0100 a0001c0001t0001g0165 a0001c0019t0001g0100	2	294	0.0068	186	c.503 others(203): Show c.503+1083_503+1084insCAGGAGGCTGGTTTGGGGTGGGTGTGTG GACGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAG GCTGGTTTGGGGTCCGTGTCTCTGTGGACTTGTAGGAGGCTGGTTTGGGG TCCGTGTCTGTGTGGACGTGTAAGAGGCTGGTTTGGAGTGGGTGTCTGTG TGGACGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCCA others(179): Show ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	294	0.0034	186	c.503 others(201): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTT GGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961716	C C	CACAGACT others(179): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	294	0.0034	186	c.194 others(203): Show c.194-7051_194-7050insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMX1B_chr9_126608928_126706032	126660172	T T	TGGGGGTA others(179): Show TGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGAGTGGGGGTGTCTAC ACTGGCTTCAGAGGTTGTCCTGTGTGGGGGTGTCTACACTGGCCTTAGAG ATTGTCTTGTGTGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGG GGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0087 a0001c0002t0072g0087	1	342	0.0029	186	c.327 others(205): Show c.327-30630_327-30629insAGTGGGGGTGTCTACACTGGCTTCAG AGGTTGTCCTGTGTGGGGGTGTCTACACTGGCCTTAGAGATTGTCTTGTG TGGGGGTATCTACACTGGCTTCAGAGGTTGTCCTGTGGGGGGGTATCTAC ACTGGCTTCAGAGGTTGTCCTGTGGGGGGGGTATCTACACTGGCTTCAGA GGTTGTCCTG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135620055	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCT TCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG01891.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	2	450	0.0044	186	c.11 others(197): Show c.1103_*1104insCTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCC CTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCT CCCCCGTCTCCCCCTTCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCC AT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		163		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135620055	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCT TCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02572.hp2 HG02622.hp2 others(6): Show HG00741.hp1 HG02572.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0001g0010 a0001c0001t0002g0005	9	450	0.0200	186	c.11 others(197): Show c.1103_*1104insCTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCC CTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCT CCCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCC AT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		163		chr9	TogoVar
LOC102723971_chr9_135609183_135624893	135620109	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCGTCTCCCCCATCTC CCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCT ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	450	0.0022	186	c.11 others(197): Show c.1157_*1158insCTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTC TCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCC CGTCTCCCCCATCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCT CACCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GT	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		217		chr9	TogoVar
LRRC27_chr10_132327193_132386508	132364461	C C	CCACCCAC others(179): Show CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACTTA CACCCACCCACACTTACACCCACCCTTACATCTACCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0284 a0001c0001t0021g0284	1	290	0.0035	186	c.129 others(203): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTTAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACTTA CACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACTTAC ACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(179): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	436	0.0023	186	c.40 others(197): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTT AG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYPD8_chr1_248734415_248760759	248747214	C C	CCCCGCAC others(179): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0152 a0004c0004t0001g0152	1	374	0.0027	186	c.337 others(203): Show c.337+1074_337+1075insCGATGCCCTGGGTGGGTGCTGGCCGTGC GGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGG TGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGAT GCCCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGC CGTGCGGG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MACROD2_chr20_13990516_16058197	15021292	G G	GTGTATAC others(179): Show GTGTATACACATACAGGTGTGTGTATACACACACCTGTGTGTATACACAT ACGTGTGTGTATACACACACCTGTGTGTATACACATACGTGTGTGTATAC ACACACCTGTGTGTATACACATACGTGTGTGTATACACACACCTGTGTGT ATACACATACGTGTGTGTATACACACACCTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	24	0.0417	186	c.419 others(207): Show c.419-208642_419-208641insCACATACAGGTGTGTGTATACACA CACCTGTGTGTATACACATACGTGTGTGTATACACACACCTGTGTGTATA CACATACGTGTGTGTATACACACACCTGTGTGTATACACATACGTGTGTG TATACACACACCTGTGTGTATACACATACGTGTGTGTATACACACACCTG TGTGTATGTATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAGI3_chr1_113385515_113690923	113416284	T T	TATTAATT others(179): Show TATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACA TATTATTATGTAATTAATGACACATATTATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACAT ATTAATTATGTAATTAATGACACATATTAATTATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	236	0.0085	186	c.316 others(205): Show c.316+24953_316+24954insGACACATATTAATTATGTAATTAATG ACACATATTATTATGTAATTAATGACACATATTATTATGTAATTAATGAC ACATATTAATTATGTAATTAATGACACATATTATTATGTGTAATTAATGA CACATATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATTA TGTAATTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185453931	T T	TGATATAT others(179): Show TGATATATATGTGATACATATATATGAGATATATATGTGATACATATATA TGAGATATATATGTGATGATACATATATATGAGATATATATGTGATGATA CATATATATGAGATATATATGTGATACATATATATGAGATATATATGTGA TACATATATATGAGATATATATGATACATATATATGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	278	0.0036	186	c.127 others(205): Show c.1278+2538_1278+2539insTATATATGTGATACATATATATGAGA TATATATGTGATACATATATATGAGATATATATGTGATGATACATATATA TGAGATATATATGTGATGATACATATATATGAGATATATATGTGATACAT ATATATGAGATATATATGTGATACATATATATGAGATATATATGATACAT ATATATGAGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAPK11_chr22_50258713_50275380	50274871	G G	GCCCCCTC others(179): Show GCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCC AGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCCCCCTC CACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTCCCCCAGCATCCCT CCCAGCCCCCTCCACCTTTCCCAGCACCCTTCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	428	0.0023	186	c.-45 others(197): Show c.-4580_-4579insGCTGGGAAGGGTGCTGGGAAAGGTGGAGGGGGCT GGGAGGGATGCTGGGGGAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAG GTGGAGGGGGCTGGGGGTGGTGCTGGGAGGTGGAGGGGGCTGGGAGGGAT ACTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGG GG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4492		chr22	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(179): Show TATATATAATTATATATAATATAATTATATAATATATAATTTATATTATA ATATAATTATATAATATATAATTTATATATTATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	186	c.-31 others(197): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATAATATATAAATTATATATTATATAATTA TATTATAATATAAATTATATATTATATAATTATATTATATATAATTATAT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061744	A A	ATTATATA others(179): Show ATTATATATAATATAATTATATAATATATAATTTATATATAATATAATTA TATAATATATAATTTATATATAATATAATTATATAATATATAATTTATAT ATAATATAATTATATAATATATAATTTATATATAATATAATTATATAATA TATAATTTATATATAATATAATTATATAATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 NA18906.hp1 others(1): Show HG00099.hp1 HG00280.hp1 NA18906.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0004 a0002c0002t0001g0010	4	288	0.0139	186	c.-31 others(197): Show c.-3140_-3139insATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3069		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061744	A A	ATTATATA others(179): Show ATTATATATAATATAATTATATAATATATAATTTATATATAATATAATTA TATAATATATAATTTATATATAATATAATTATATAATATATAATTTATAT ATAATATAATTATATAATATATAATTTATATATTATATAATTATATAATA TATAATTTATATATAATATAATTATATAATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02132.hp1 HG02155.hp2 others(8): Show HG02040.hp1 HG02132.hp1 HG02155.hp2 NA18951.hp1 NA18962.hp1 NA18982.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19062.hp2 NA19082.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0008 a0010c0013 a0002c0002 a0002c0008 a0010c0013	a0002c0002t0001 a0002c0008t0001 a0010c0013t0001 a0002c0002t0001 a0002c0008t0001 a0010c0013t0001	a0002c0002t0001g0004 a0002c0008t0001g0021 a0010c0013t0001g0039 a0002c0002t0001g0004 a0002c0008t0001g0021 a0010c0013t0001g0039	11	288	0.0382	186	c.-31 others(197): Show c.-3140_-3139insATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATAATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3069		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061744	A A	ATTATATA others(179): Show ATTATATATAATATAATTATATAATATATAATTTATATATAATATAATTA TATAATATATAATTTATATATTATATAATTATATAATATATAATTTATAT ATAATATAATTATATAATATATAATTTATATATTATATAATTATATAATA TATAATTTATATATAATATAATTATATAATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp1 HG02257.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	288	0.0069	186	c.-31 others(197): Show c.-3140_-3139insATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATAATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATAATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3069		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061753	A A	AATATAAT others(179): Show AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02451.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	288	0.0069	186	c.-31 others(197): Show c.-3149_-3148insAATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT AT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3078		chr19	TogoVar
MBOAT1_chr6_20094684_20217469	20111869	C C	CGTATATA others(179): Show CGTATATATATACATATATACGTATATATATACATATATATACGTATATA TATACATATATATACGTATATATATACATATATACGTATATATATACGTA TATATACGTATATATATACGTATATATACGTATATATATACGTATATATA CGTATATATACATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0075 a0004c0004t0075	a0004c0004t0075g0309 a0004c0004t0075g0309	1	336	0.0030	186	c.120 others(205): Show c.1209+1006_1209+1007insATATATATATATATATATGTATATAT GTATATATACGTATATATACGTATATATATACGTATATATACGTATATAT ATACGTATATATACGTATATATATACGTATATATGTATATATATACGTAT ATATATGTATATATATACGTATATATATGTATATATATACGTATATATGT ATATATATAC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATATA others(179): Show AATATATATATTTATATAAATATAAAAATATATTTATATAAATATATATA TTTATATAAATATAAAAATATATTTATATAAATATATATATTTATATAAA TATAAAAATATATTTATATAAATATATATATTTATATAAATATATATATT TATATAAATATATATATTTATATAAATATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG01255.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0295 a0001c0001t0001g0257 a0001c0001t0001g0295	2	388	0.0052	186	c.685 others(203): Show c.685-2544_685-2543insTATATTTATATAAATATAAAAATATATT TATATAAATATATATATTTATATAAATATAAAAATATATTTATATAAATA TATATATTTATATAAATATAAAAATATATTTATATAAATATATATATTTA TATAAATATATATATTTATATAAATATATATATTTATATAAATATATATA TTTATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MDP1_chr14_24208943_24221066	24209057	G G	GAAAGCTA others(179): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCT ACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCA AGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00735.hp2 others(9): Show HG00408.hp2 HG00733.hp1 HG00735.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03209.hp1 NA18947.hp1 NA18992.hp1 NA19005.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0002c0002t0001g0004 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0002g0011	12	404	0.0297	186	c.49 others(197): Show c.4966_*4967insGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCT ACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCA AGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGA ATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCT TT	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		4885		chr14	TogoVar
MELTF_chr3_196996740_197034817	197000591	A A	ACCGTGTG others(179): Show ACCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCC ATGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTG TGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGC CAAGCACTGTGCAGTGTTTTGTGTCTTAGTCTCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG03486.hp1 HG02055.hp2 HG02280.hp2 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0003 a0006c0007t0010 a0001c0001t0003 a0006c0007t0010	a0001c0001t0003g0092 a0006c0007t0010g0022 a0001c0001t0003g0092 a0006c0007t0010g0022	3	420	0.0071	186	c.27 others(197): Show c.2780_*2781insCATAGAGACTAAGACACAAAACACTGCACAGTGC TTGGCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTG GCACACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCA CATGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACAC GG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		1148		chr3	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(179): Show ACCCCCGCCCCACACACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCA CACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGG GTGGGAGCCACACACACACCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0283 a0001c0001t0021g0283	1	399	0.0025	186	c.557 others(203): Show c.557-2652_557-2651insTGCCCCAGGGTGGGAGCCACACACACCC CCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACA CACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCC ACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC CCCCGCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACCCCCCG others(179): Show ACCCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCC ACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACC CCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCACACACACACC CCGCCCCACACACACACCCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0382 a0001c0001t0006g0382	1	399	0.0025	186	c.557 others(203): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCCGCCCCG CCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACC CCCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACCCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(179): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	181	0.0055	186	c.107 others(205): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79439193	T T	TGTGGGGT others(179): Show TGTGGGGTGGATAGTGAGTGTGTGGGTGTGGGTGGGGTGGGTAGTGAGTG TGTGGGTGTGGGTGGGGTGGGTAGTGTGTGGGTGTGGATGGGGTAGGTAG TGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGA GTGTGTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	390	0.0026	186	c.-51 others(203): Show c.-51+6662_-51+6663insATAGTGAGTGTGTGGGTGTGGGTGGGGT GGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGTAGTGTGTGGGTGTGGA TGGGGTAGGTAGTGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGG GGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGGG TGGGGTGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237544181	G G	GGGACAGT others(179): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTG GGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	286	0.0035	186	c.153 others(205): Show c.1539+1524_1539+1525insACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGG TGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43496622	A A	ATGGTGGT others(179): Show ATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA GATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGATGG TGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATA GTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0161 a0001c0001t0009g0161	1	250	0.0040	186	c.633 others(203): Show c.633-1604_633-1603insTGGAGGTAGTGGTGGTGGAGATGGTGGT GGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGAGATAGTGG TGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTG GTGGTGGAGATAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGT GGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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