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
ITGB2_chr21_44880953_44925899	44918939	G G	ATCCCCTC others(168): Show ATCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGG AGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCA GCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCATTCC CCTCTCCCAGCACTCGGAGCTGAGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp1 HG01109.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0211 a0001c0005t0002g0210 a0001c0003t0002g0211 a0001c0005t0002g0210	2	444	0.0045	175	c.-4+ others(190): Show c.-4+1882_-4+1883insGCTCAGCTCCGAGTGCTGGGAGAGGGGAAT GCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGA GAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAG TGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGAT	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(168): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp1 HG00621.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0014 a0001c0002t0001g0215 a0001c0001t0009g0014 a0001c0002t0001g0215	2	284	0.0070	175	c.670 others(190): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245198946	C C	CGGGGGAG others(168): Show CGGGGGAGGTGGGAGAGTGTGGTTGCTGAGCTGAGCTGAGCTGAGGCTGC AGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTGGGGGGTGGGGGGGGA TGGTGGGGGGGTGGGGTGGGGGGTGGGGGGTGGTGGGGGATGGTGGGGGG GTGGGGGGGTGGGCGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0129 a0001c0007t0035g0129	1	160	0.0063	175	c.465 others(194): Show c.465+42271_465+42272insTGGGAGAGTGTGGTTGCTGAGCTGAG CTGAGCTGAGGCTGCAGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTG GGGGGTGGGGGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGTGGTG GGGGATGGTGGGGGGGTGGGGGGGTGGGCGGTGGGGGGGTGGGGGGAGG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	A A	AAGTATCT others(168): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTATATA AAATATAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCT ATTTATAGAGATACTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	94	0.0106	175	c.144 others(196): Show c.1445-33634_1445-33460dupATATTTTATATAGTATCTCTATAA ATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATACTATAT TTTATATAGTATCTCTATAAATAGAGATACTATATTTTATATAGTATCTC TATAAATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATAC T	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(168): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGTGGGGGTGATGAC GGTGATGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0001 a0027c0027t0001	a0027c0027t0001g0002 a0027c0027t0001g0002	1	186	0.0054	175	c.956 others(192): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCATCACCGT CATCACCCCCACATCACCGTCATCACCCCCCCCACCCCCATCATCACCGT CATCACCCCTACCGTCATCACCCCCAGCCCCACCGTCATCACCCCCACCA TCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124506842	T T	TCGGGGGG others(168): Show TCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGGTAGGGAGGATTTCAGGT GGGGGGGTAGGGAGGATTTCAGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	260	0.0039	175	c.624 others(192): Show c.624+8714_624+8715insCGGGGGGGTAGGGAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRCOL1_chr12_132598151_132615582	132598423	T T	TCCTCTCC others(168): Show TCCTCTCCGCGCGCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCG CCCCCGCCTCCTCTCCGCGCGCCCCCGCCTCCTCTCCGCGCGCCCCCCTC CTCTCCGCGCGCCCCCCTCCTCTCCGCGCGCCCCCGCCTCCTCTCCGCGC GCCCCCGCCTCCTCTCCGCGCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	390	0.0026	175	c.49 others(186): Show c.4978_*4979insGGGGCGCGCGGAGAGGAGGCGGGGGCGCGCGGAG AGGAGGCGGGGGCGCGCGGAGAGGAGGGGGGCGCGCGGAGAGGAGGGGGG CGCGCGGAGAGGAGGCGGGGGCGCGCGGAGAGGAGGCGGGGGCGCGCGGA GAGGAGGCGGGGCGCGCGGAGAGGAGGGGCGCGCGGAGAGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4727		chr12	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(168): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	194	0.0052	175	c.71- others(188): Show c.71-940_71-766dupGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAN1A2_chr1_117362449_117533872	117430025	T T	TGGGGTCT others(168): Show TGGGGTCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCATGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0240 a0001c0001t0149g0240	1	370	0.0027	175	c.855 others(192): Show c.855+9380_855+9381insTCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579222	C C	CCACCACC others(168): Show CCACCACCACCATCACCATCACCACCACCATCACCACCATCACCATCACC ACCATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	362	0.0028	175	c.391 others(190): Show c.391+732_391+733insCCATCACCATCACCACCACCATCACCACCA TCACCATCACCACCATCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCCTTCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCCTTCACCACCATCACCACCACCACCCTTCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2_chr2_209419047_209739112	209435948	T T	TATATATA others(168): Show TATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT AATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT AATATATACAGTATATATTATATATAATATATACAGTATATATTATATAT AATATATACAGTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0013 a0005c0008t0013	a0005c0008t0013g0131 a0005c0008t0013g0131	1	148	0.0068	175	c.-22 others(196): Show c.-222+11720_-222+11721insTAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATATAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATATAATATATACAGTATATATTATAT ATAATATATACAGTATATATTATATATAATATATACAGTATATATTATAT A	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(168): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGAGAGGGGGGA GAGGGGGAGGGGGGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0007 a0006c0018t0007	a0006c0018t0007g0132 a0006c0018t0007g0132	1	163	0.0061	175	c.525 others(192): Show c.525+8507_525+8508insCTCTCCCCCTCTCCCCCCTCCCCCTCTC CCCCCTCTCCCCCTCTCCCCCATCTCCCCCCTCTCTCCCCCTCTCCCCCC TCTCTCCTCCCTCTCCCCCCTCTCCCTCCCCTCTCCCCTCTCTCTCCCCC ATCCCTCCCTCCCTCTCTCTCTCTCTCCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GGGGGGGG others(168): Show GGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	386	0.0026	175	c.-16 others(186): Show c.-1655_-1654insGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MBOAT7_chr19_54168415_54194580	54182040	A A	AAGGAAGG others(168): Show AAGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAA GGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGG AGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAAGGAG GGAAGGAAGGAGGGAGGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	373	0.0027	175	c.494 others(190): Show c.494-908_494-907insCCTTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCT	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	5/7			chr19	TogoVar
MBP_chr18_76973833_77137783	77118082	C C	CGGGATGG others(168): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGGGTGG GATGGGATGGGGACAGTGGGTTGGGGTGGGATGGGGGAGAGTGGGTTGGG GTGGGATGGGGACAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	396	0.0025	175	c.-25 others(194): Show c.-25-12797_-25-12796insACCCCAACCCACTGTCCCCATCCCAC CCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCATC CCACCCCAACCCACTCTCCCCCATCCCACCCCAACCCACTGTCCCCATCC CACCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MCTP2_chr15_94226561_94488952	94464261	A A	ATATATAT others(168): Show ATATATATATTATATATATATAATATATATATATATTATATATATATTAT ATATATATATTATATATATATAATATATATATATATTATATATATATTAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT ATTATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	276	0.0036	175	c.236 others(194): Show c.2360+6024_2360+6025insTATATATATATAATATATATATATAT TATATATATATTATATATATATATTATATATATATAATATATATATATAT TATATATATATTATATATATATTATATATATATTATATATATATTATATA TATATTATATATATATTATATATATATTATATATATATATTATATATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
METRNL_chr17_83074609_83100122	83090506	A A	ACACCCCC others(168): Show ACACCCCCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCAC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCG CCCCAGGGTGGGAGCCACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0087 a0002c0005t0002g0087	1	399	0.0025	175	c.557 others(192): Show c.557-2660_557-2659insACCCCCCCCCACACACACCCCGCCCCAC ACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC CCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACA CACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAM_chr7_141990879_142111747	142042867	T T	TATATTAT others(168): Show TATATTATATATACATATTATATATAATATATAATATATATTATATATAC ATATTATATATAATATATAATATATATTATATATCATATTATATATAATA TATAATATATATTATATATCATATTATATATAATATATAATATATATTAT ATATAATATAATATATAATATATTAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0028 a0028	a0028c0146 a0028c0146	a0028c0146t0001 a0028c0146t0001	a0028c0146t0001g0044 a0028c0146t0001g0044	1	316	0.0032	175	c.249 others(194): Show c.2498+2021_2498+2022insATATTATATATACATATTATATATAA TATATAATATATATTATATATACATATTATATATAATATATAATATATAT TATATATCATATTATATATAATATATAATATATATTATATATCATATTAT ATATAATATATAATATATATTATATATAATATAATATATAATATATTAC	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MICB_chr6_31493145_31516124	31498593	T T	TAGTAGCT others(168): Show TAGTAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03834.hp1 NA19066.hp1 others(1): Show HG02622.hp1 HG03834.hp1 NA19066.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0029 a0001c0001t0010g0102 a0001c0001t0001g0029 a0001c0001t0010g0102	4	459	0.0087	175	c.70+ others(188): Show c.70+347_70+348insACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(168): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	181	0.0055	175	c.107 others(194): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCATTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLPH_chr2_237482251_237560322	237544650	G G	GGAGGACA others(168): Show GGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGA GTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0280 a0001c0015t0001g0280	1	286	0.0035	175	c.154 others(194): Show c.1540-1955_1540-1954insAGGACAGTGGTGAGTGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGAC AGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRGPRG_chr11_3212944_3223813	3214914	C C	CCCACCCA others(168): Show CCCACCCACCCATCCACCCATCCACCCATCCATCCACCCACCCACCCACC CACCCACCCACCCATCCATCCATCCACCCACCCACCCACCCACCCACCCA CCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCACCCATCC ATCCACCCACCCACCCACCCATCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	175	c.30 others(186): Show c.3029_*3030insATGGATGGGTGGGTGGGTGGGTGGATGGATGGGT GGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGTGGGTGGG TGGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGGTGGGTG GGTGGGTGGATGGATGGGTGGATGGGTGGATGGGTGGGTGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		3029		chr11	TogoVar
MSLN_chr16_755734_773862	767633	G G	GCGCGTGG others(168): Show GCGCGTGGAGGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAG GGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGA GGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGGTGTGGAGGGGGG CGCGTGGAGGGGGCACGTGGAGGGGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	388	0.0026	175	c.159 others(192): Show c.1596+173_1596+174insGGGGCCGTGTGGGGGGGCGTGGAGGAGG GGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGG GGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGGT GTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767934	A A	AGGGGGGG others(168): Show AGGGGGGGAGCGTGGGGGGGCGTGGAGGGGGCCGCGTGGAGGGGGGGCGC GTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGGA GGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGT GGGGGGGCGCGTGGGGGGGCGTGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0219 a0002c0003t0004g0219	1	388	0.0026	175	c.159 others(192): Show c.1597-441_1597-440insGGGAGCGTGGGGGGGCGTGGAGGGGGCC GCGTGGAGGGGGGGCGCGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTG GAGGGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCG CGTGGAGGGGGGCGCGTGGGGGGGCGCGTGGGGGGGCGTGGAGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(168): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCCC GGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0327 a0002c0002t0002g0327	1	388	0.0026	175	c.43 others(184): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCCGGCCCCGGCCCCGGCCC CAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSLN_chr16_755734_773862	769224	G G	GCCCCAGC others(168): Show GCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGC CCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCC CGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCA GCCCCAGCCCCGGCCCCACCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	388	0.0026	175	c.49 others(184): Show c.491_*492insCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAG CCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCC CCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCC GGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCACC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		363		chr16	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(168): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0053 a0001c0001t0038g0053	1	132	0.0076	175	c.738 others(192): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATATATAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(168): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTATAT ATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03239.hp2 HG03579.hp2 HG01891.hp1 HG03239.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0003 a0001c0004t0001 a0001c0007t0004 a0001c0001t0003 a0001c0004t0001 a0001c0007t0004	a0001c0001t0003g0117 a0001c0004t0001g0101 a0001c0007t0004g0106 a0001c0001t0003g0117 a0001c0004t0001g0101 a0001c0007t0004g0106	3	132	0.0227	175	c.738 others(192): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATACTCTCTCTCTCTCCATATATATATA TATATACTCTATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATATACTCTATATATATATATATATATATATATATATAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(168): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATAT ATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	132	0.0076	175	c.738 others(192): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATACTCTATATATATATATATATATATAGAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(168): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03209.hp2 HG01071.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0040 a0001c0001t0032g0125 a0001c0001t0001g0040 a0001c0001t0032g0125	2	132	0.0152	175	c.738 others(192): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATAGAGAGAGA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPG2_chr7_158626169_158709804	158667663	T T	TTCCTTAC others(168): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	378	0.0027	175	c.148 others(194): Show c.1480-2914_1480-2913insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGG GACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667711	T T	TCCCTCCG others(168): Show TCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCACCTTACCCA CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCTACCCTGTGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	378	0.0027	175	c.148 others(194): Show c.1480-2962_1480-2961insCCACAGGGTAGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGTGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(168): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	378	0.0027	175	c.148 others(194): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGG GACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668100	T T	TCCCTTAC others(168): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTT ACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	378	0.0027	175	c.148 others(194): Show c.1480-3351_1480-3350insGAGGGCGGAGGGACCCAGTAGTGGGT AAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668214	C C	CCGTTACC others(168): Show CCGTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCC TAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACA ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCACGCCT TACCCACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	378	0.0027	175	c.147 others(194): Show c.1479+3299_1479+3300insAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGTGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGT TGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTA GGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAACG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(168): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCTTCCTTACCGACC CTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	378	0.0027	175	c.147 others(194): Show c.1479+3270_1479+3271insCGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAG GGTCGGTAAGGAAGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79400830	C C	CCGACCCC others(168): Show CCGACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCC CTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCT CCCCCCTCCCCGTGACCTGCCCCCCCGAACTCCTCCCCATCCCGCCCCCC GACCTCCCCCCGCCCCCCCTCCCCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0296 a0001c0004t0050g0296	1	322	0.0031	175	c.127 others(192): Show c.127+4479_127+4480insCGACCCCTCCCCCGACCTCCCCCCCGCG CCCCGACCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGAC CTACACCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCCGAA CTCCTCCCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCCTCCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(168): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCCGACCTACACCCCGCCCCCCTACCTC CCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCG ACCTCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	322	0.0031	175	c.127 others(192): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCCGACCTACA CCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCT CCCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(168): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCTACCTCC CCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGA CCTCCCCCCCGCCCCCCTCCCCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0012 a0004c0020t0012	a0004c0020t0012g0003 a0004c0020t0012g0003	1	322	0.0031	175	c.127 others(192): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACAC CCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTC CCCATCCCGCCCCCCGACCTCCCCCCCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(168): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCCTACCTCC CCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGA CCTCCCCCCGCCCCCCTCCCCCCGGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0231 a0002c0003t0001g0231	1	322	0.0031	175	c.127 others(192): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTC CCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(168): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTACACCCCGCCCCCCCTACCTCC CCCCTCCCCGTGACCTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGA CCTCCCCCCGCCCCCCTCCCCCGGCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0204 a0001c0001t0021g0204	1	322	0.0031	175	c.127 others(192): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTACACC CCGCCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCCTC CCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGGCCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(168): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCCTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGCCCACCT TCTCCTGAAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0081 a0003c0003t0081	a0003c0003t0081g0213 a0003c0003t0081g0213	1	366	0.0027	175	c.-16 others(196): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCCC ACCTTCTCCCTGAAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAG C	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663415	G G	GTGGGGAA others(168): Show GTGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTGCCAT GAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGA ACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGG AGGGGTGGAACTGCCATGAACTGAGA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	366	0.0027	175	c.-16 others(196): Show c.-163-10991_-163-10990insGGGGAGGGGTGGAACTGCCATGAA CTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACT GCCATGAACTGAGATGGGGAAGGTGGAGGGGACGCTGGTGGTGGGGAGGG GTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGT G	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995533	C C	CTGTATAT others(168): Show CTGTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACT GTATATATATACAGTATGTATACTATATACAGTATGTATACTATATACAG TATGTATACTATATACAGTATGTATACTATATATATACAGTATGTATACT ATATATATACAGTATGTATACTATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0361 a0001c0002t0035g0361	1	362	0.0028	175	c.-75 others(194): Show c.-75+17534_-75+17535insATATAGTATACATACTGTATATATAT AGTATACATACTGTATATATATAGTATACATACTGTATATAGTATACATA CTGTATATAGTATACATACTGTATATAGTATACATACTGTATATATATAC AGTATACATACTGTATATATATACAGTATACATACTGTATATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18993.hp2 NA19009.hp2 others(1): Show HG02132.hp2 NA18993.hp2 NA19009.hp2 NA19011.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0033 a0002c0003 a0014c0031 a0001c0033 a0002c0003 a0014c0031	a0001c0033t0001 a0002c0003t0001 a0014c0031t0001 a0001c0033t0001 a0002c0003t0001 a0014c0031t0001	a0001c0033t0001g0052 a0002c0003t0001g0049 a0002c0003t0001g0050 others(1): Show a0001c0033t0001g0052 a0002c0003t0001g0049 a0002c0003t0001g0050 a0014c0031t0001g0051	4	440	0.0091	175	c.319 others(190): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGACAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19012.hp1 NA18968.hp2 NA19012.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0017 a0002c0003t0001g0018	2	440	0.0046	175	c.319 others(190): Show c.319+282_319+283insCTGTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	440	0.0023	175	c.319 others(190): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19077.hp2 NA19001.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0076 a0002c0003t0001g0077	2	440	0.0046	175	c.319 others(190): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02698.hp1 HG01928.hp2 HG02698.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0208 a0002c0005t0001g0209	2	440	0.0046	175	c.319 others(190): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(168): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0162 a0002c0005t0001g0162	1	440	0.0023	175	c.319 others(190): Show c.319+282_319+283insCTTTCTGTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar

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