Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MARCHF1_chr4_163519718_164389019	163894556	C C	CATGCATA others(380): Show CATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATG CATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATAT ATATATATGCATGTGATGCATATATATATATGCATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	66	0.0152	387	c.-38 others(406): Show c.-38-40388_-38-40387insCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATATATGCATCACATGCATATATATATGCATCACATGCA TATATATATATGCATCACATGCATATATATATATGCATCACATGCATATA TATATATGCAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(380): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGG ACAGTGGGTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGAC AGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03239.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG03239.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0019 a0001c0001t0005 a0001c0002t0019	a0001c0001t0005g0237 a0001c0001t0005g0239 a0001c0001t0005g0258 others(1): Show a0001c0001t0005g0237 a0001c0001t0005g0239 a0001c0001t0005g0258 a0001c0002t0019g0240	4	340	0.0118	387	c.-25 others(406): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAACC CACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCC ACTGTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACT GTCCCCATCCC		MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8						chr18	TogoVar
MEGF6_chr1_3482951_3616508	3587877	C C	CAGGAGGG others(380): Show CAGGAGGGGACAGGAGTGGCTAGGAGGAGACAGGACCGGCCAGGAGTGGC CAGGAGTGGACAGGAGGAGACAGGAGGGGACAGGAGTGGATAGGAGGAGA TAGGAGGGGACAGGAGTGGACAGAAGGAGACAGGAGGGGACAGGAGTGGA TAGGAGTGGACAGGAGGAGACAGGAGGGGCCAGGAGTGGACAGGAGTGGA CAGGAGACAGGAGGGGACAGGAATGGCCAAGAGGGGACAGGAGTGGCCAG GAGGGGGCAGAAGTGGCCAGGAGTGGGCAGGAGGGGGCAGGACAGGCCAG GAGGAGGCAGGAGGGGGCAGGAGGGGACAGGAGGGGGCAGGAGGGGACAG GAGGGGGCAGGAGTGGCCAGGAGGGGGCAGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(7): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2	a0001 a0009 a0019 others(3): Show a0001 a0009 a0019 a0021 a0023 a0056	a0001c0001 a0009c0009 a0019c0017 others(3): Show a0001c0001 a0009c0009 a0019c0017 a0021c0072 a0023c0022 a0056c0093	a0001c0001t0001 a0001c0001t0009 a0009c0009t0005 others(5): Show a0001c0001t0001 a0001c0001t0009 a0009c0009t0005 a0019c0017t0015 a0019c0017t0038 a0021c0072t0013 a0023c0022t0012 a0056c0093t0013	a0001c0001t0001g0257 a0001c0001t0009g0157 a0009c0009t0005g0158 others(7): Show a0001c0001t0001g0257 a0001c0001t0009g0157 a0009c0009t0005g0158 a0009c0009t0005g0242 a0019c0017t0015g0234 a0019c0017t0015g0237 a0019c0017t0038g0236 a0021c0072t0013g0252 a0023c0022t0012g0233 a0056c0093t0013g0235	10	270	0.0370	387	c.376 others(404): Show c.376+7460_376+7461insTTCCCCTCCTGCCCCCTCCTGGCCACTC CTGCCCCCTCCTGTCCCCTCCTGCCCCCTCCTGTCCCCTCCTGCCCCCTC CTGCCTCCTCCTGGCCTGTCCTGCCCCCTCCTGCCCACTCCTGGCCACTT CTGCCCCCTCCTGGCCACTCCTGTCCCCTCTTGGCCATTCCTGTCCCCTC CTGTCTCCTGTCCACTCCTGTCCACTCCTGGCCCCTCCTGTCTCCTCCTG TCCACTCCTATCCACTCCTGTCCCCTCCTGTCTCCTTCTGTCCACTCCTG TCCCCTCCTATCTCCTCCTATCCACTCCTGTCCCCTCCTGTCTCCTCCTG TCCACTCCTGGCCACTCCTGGCCGGTCCTGTCTCCTCCTAGCCACTCCTG TCCCCTCCT		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MICAL3_chr22_17782649_18029561	17876784	G G	GGGAGGTT others(380): Show GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGT TATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	229	0.0044	387	c.224 others(406): Show c.2242-4762_2242-4761insATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAATCTCCCTAACCTCC ATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCA TAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACC TCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCAT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCT CCTTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876838	G G	GGGAGGTT others(380): Show GGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAG CTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGA TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGG GAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGG CAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0126 a0001c0001t0004g0126	1	217	0.0046	387	c.224 others(406): Show c.2242-4816_2242-4815insATAACCTCCATAACTTCCCTAACCTC CTTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAA CCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAAC CTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCC TAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACC TCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCT AACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCT CCTTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877126	T T	TGGAGGTT others(380): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0023 a0001c0015t0023	a0001c0015t0023g0061 a0001c0015t0023g0061	1	234	0.0043	387	c.224 others(406): Show c.2242-5104_2242-5103insCTCACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCCTCA CCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877207	T T	TGGAGGTG others(380): Show TGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGG TTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGAT TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0067 a0005c0067	a0005c0067t0001 a0005c0067t0001	a0005c0067t0001g0063 a0005c0067t0001g0063	1	165	0.0061	387	c.224 others(406): Show c.2242-5185_2242-5184insCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCTTAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACT GCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCT AACCTCCTTAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCT CCCTCACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877211	G G	GGTTAGGG others(380): Show GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAGGTGAGGGAGGTGAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0173 a0001c0045t0001g0173	1	259	0.0039	387	c.224 others(406): Show c.2242-5189_2242-5188insTTCCCTAACCTCCCTAACCTCCCTCA CCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCT CACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTCACCTCCCTCACCT CCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877243	G G	GGGAGGTT others(380): Show GGGAGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0002 a0016c0023t0002	a0016c0023t0002g0025 a0016c0023t0002g0025	1	213	0.0047	387	c.224 others(406): Show c.2242-5221_2242-5220insATAACTTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTCACCTCCATAACTTCCCTAACCTCCATAACCT CCATAACCTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877445	G G	GGTTATGG others(380): Show GGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGG TTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGG GAGGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGG AGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	263	0.0038	387	c.224 others(406): Show c.2242-5423_2242-5422insTTCCCTAACCTCCATAACCTCCATAA CCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAAC CTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT CACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCT CCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCATA ACCTCCATAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432834	A A	AGAGAGAG others(380): Show AGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	237	0.0042	387	c.225 others(404): Show c.225-2177_225-2176insAAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGA GGAGAGAGA		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495702	T T	TGGTGGAG others(380): Show TGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTG GAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGT GGTGGTGATGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGA TGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTG GTGATGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGT GGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGG TGGTGGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTG GAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA20805.hp1 HG01069.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0007 a0001c0008t0010 a0001c0002t0007 a0001c0008t0010	a0001c0002t0007g0215 a0001c0008t0010g0238 a0001c0002t0007g0215 a0001c0008t0010g0238	2	248	0.0081	387	c.633 others(404): Show c.633-2532_633-2531insGTGGAGGTAGTGGTGGTGGAGGTAGTGG TGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTG GAGATGGTGGTGGTGGAGGTGGTGGTGATGGAGGTAGTGGTGGTGGAGAT GGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGA TGGTGGTGGTGGAGGTGGTGGTGATGGAGGTAGTGGTGGTGGAGATGGTG GTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGT GGTGGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGG TGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTG GTGGTGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500074	A A	AGGTGGTG others(380): Show AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGT GATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGA TGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGC AGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATG GTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	219	0.0046	387	c.748 others(404): Show c.748+1731_748+1732insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATG GTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGG GTGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(380): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTTATATATA TTATATATATTATATATAATATATACATATTATATATTATATATAATATA TATACATATTATATATTATATATAATATATATACATATTATATATTATAT ATAATATATACATATTATATATTATATATATAATATATATACATATTATA TATTATATATAATATATATACATATTATATATAATATATATACATATTAT ATTATATATAATATATATACATATTATATATAATATATAATATATTACAT ATTATATATATTATATAATATATTACATATTATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	38	0.0263	387	c.262 others(406): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTTATATATATTATATATATTATATATAATATATACA TATTATATATTATATATAATATATATACATATTATATATTATATATAATA TATATACATATTATATATTATATATAATATATACATATTATATATTATAT ATATAATATATATACATATTATATATTATATATAATATATATACATATTA TATATAATATATATACATATTATATTATATATAATATATATACATATTAT ATATAATATATAATATATTACATATTATATATATTATATAATATATTACA TATTATATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19						chr1	TogoVar
MUC4_chr3_195741771_195816929	195783982	T T	TCGGTGAC others(380): Show TCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC GGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGG TGACAAGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGGCTAGTG ACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAC AGGAAGAGGGGTGTCCTGACCTGTGGATGCTGAGGAAGTATCGGTGACAG GAAGCGGTGTGGTGTCACCAGTGGATGATGCTGAGGAAAGGCTGGTGACA GGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGT AAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03579.hp1 HG03579.hp1	a0093 a0093	a0093c0031 a0093c0031	a0093c0031t0005 a0093c0031t0005	a0093c0031t0005g0230 a0093c0031t0005g0230	1	220	0.0045	387	c.759 others(396): Show c.7597_7598insGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTC TTACTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTT CCTGTCACCAGCCTTTCCTCAGCATCATCCACTGGTGACACCACACCGCT TCCTGTCACCGATACTTCCTCAGCATCCACAGGTCAGGACACCCCTCTTC CTGTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCT GTCACTAGCCCTTCCTCAGCATCCACAGGTCACACCACCCCTCTTCTTGT CACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCTTGTCA CCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCTTCATGTCACC G	p.Asn others(400): Show p.Asn2533delinsSerProSerSerAlaSerThrGlyHisAlaThrPr oLeuThrValThrSerProSerSerAlaSerThrGlyHisAlaThrProL euProValThrSerLeuSerSerAlaSerSerThrGlyAspThrThrPro LeuProValThrAspThrSerSerAlaSerThrGlyGlnAspThrProLe uProValThrSerLeuSerSerValSerThrGlyAspThrThrProLeuP roValThrSerProSerSerAlaSerThrGlyHisThrThrProLeuLeu ValThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuLeuVa lThrAspAlaSerSerValSerThrGlyHisAlaThrAlaLeuHisValT hrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7709/16756	7597/16239	2533/5412			chr3	TogoVar
NELFB_chr9_137250327_137278542	137273772	A A	ATTTCTGG others(380): Show ATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAATTTCT GGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGA GGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGA TATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATATAAT AATTTCTGGGGGAAGTTGATACAATTTCTGGGGGAGGTTGATGTAATTTC TGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0213 a0001c0002t0011g0213	1	362	0.0028	387	c.84 others(396): Show c.844_*845insTTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGT TGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTC TGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGG AGGATGATATAATAATTTCTGGGGGAAGTTGATACAATTTCTGGGGGAGG TTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAG G		NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding					231		chr9	TogoVar
NEU4_chr2_241804193_241822413	241807139	T T	TTCCCTCC others(380): Show TTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	174	0.0057	387	c.-21 others(398): Show c.-2139_-2138insTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2053		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(380): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCC ACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTG AAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTC CGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0118 a0008c0008t0118	a0008c0008t0118g0257 a0008c0008t0118g0257	1	120	0.0083	387	c.-16 others(408): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCT CCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTT CTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACC TTCTCCCTGAAGC		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02129.hp2 others(8): Show HG01433.hp1 HG01891.hp1 HG02129.hp2 HG02451.hp1 HG02602.hp2 HG03098.hp2 HG03139.hp1 HG03453.hp2 NA18967.hp1 NA18982.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0001 a0001c0001t0001g0001 a0001c0001t0008g0001	11	21	0.5238	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGG GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA18984.hp2 HG03486.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	12	0.1667	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG02897.hp2 HG01891.hp2 HG02809.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	13	0.2308	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGG GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00738.hp2 others(6): Show HG00099.hp2 HG00323.hp2 HG00738.hp2 HG01081.hp1 HG01123.hp2 HG02683.hp2 HG04199.hp2 NA18982.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0012g0001 a0001c0001t0001g0001 a0001c0001t0012g0001	9	19	0.4737	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGG GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	12	0.1667	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCC TGGTGCCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGT CTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCT GGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCT AGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTG TGTGTATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGG TGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAG CCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	11	0.0909	387	c.26 others(398): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAG CCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCTGGCT AGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGT GTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT GTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT CTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGG CTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CCG		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1615		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993464	C C	CCTCTCTC others(380): Show CCTCTCTCCCCCTCTCTCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCCTC CTCTCCCCCCCTCCTCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0006 a0020c0048t0006	a0020c0048t0006g0100 a0020c0048t0006g0100	1	335	0.0030	387	c.55 others(398): Show c.5551_*5552insCTCTCTCCCCCTCTCTCCCCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCC CCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4836		chr19	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(380): Show GAAAAAGAATACTTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTTAAA AAGAATACTTTTTAAAAAGTACTTTTTAAAAAGAATACTTTTTAAAAAGT ACTTTTAAAAAAGAATACTTTTAAAAAGTACTTTTAAAAAGAATACTTTT TAAAAAGTACTTTTAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAGA ATACTTTTAAAAAAGAATACTTTTTAAAAGTACTTTTAAAAAAGAATACT TTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAA AAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAG TACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	141	0.0071	387	c.175 others(408): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTAAAAAGTATTC TTTTTTAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT AAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAGTACTTTTTAAAAGTAT TCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTAAAAAGTACTTTT TAAAAAGTATTCTTTTTAAAAAGTACTTTTTAAAAAGTATTCTTTTTAAA AAGTATTCTTTTT		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(380): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATACATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATAATATATATTATATATAAAG TATATATATAATATATATTATATATAAAGTATATATATAATATATATTAT ATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19068.hp2 NA18954.hp1 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0146 a0001c0003t0003g0149 a0001c0003t0003g0146 a0001c0003t0003g0149	2	3	0.6667	387	c.730 others(404): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATGTATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATATATTATATATATACTTTAT ATATAATATATATTATATATATTATATATATACTTTATATATATAATATA TATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(380): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATATAAAGTATATA TATAATATATATAATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATAATATATATTATATATAAAG TATATATATAATATATATTATATATAAAGTATATATATAATATATATTAT ATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG00738.hp2 others(10): Show HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01256.hp1 HG01978.hp1 HG02015.hp1 HG02132.hp2 HG02922.hp2 HG03516.hp2 NA18747.hp2 NA18943.hp2 NA18947.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0001c0022 others(1): Show a0001c0003 a0001c0009 a0001c0022 a0002c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(3): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0009t0003 a0001c0022t0001 a0002c0005t0002	a0001c0003t0001g0144 a0001c0003t0002g0141 a0001c0003t0002g0292 others(9): Show a0001c0003t0001g0144 a0001c0003t0002g0141 a0001c0003t0002g0292 a0001c0003t0002g0299 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0235 a0001c0003t0003g0293 a0001c0009t0003g0002 a0001c0022t0001g0241 a0002c0005t0002g0170 a0002c0005t0002g0300	13	14	0.9286	387	c.730 others(404): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATATATTATATATATACTTTAT ATATAATATATATTATATATATTATATATATACTTTATATATATAATATA TATTATATA		NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22						chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(380): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCC TCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCTCTCCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	206	0.0049	387	c.433 others(404): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG GGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGG AGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGA GGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGG GAGGGTGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGAG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(380): Show TCTCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCTCCCCTCCCACCCT CCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	206	0.0049	387	c.433 others(404): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGGAGGGTGGGAGGGGAGGGAGAGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGGA GGGGAGGAG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(380): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	30	0.0333	387	c.433 others(404): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGAAGGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NUP153_chr6_17610037_17711925	17628595	T T	TAAAACGA others(380): Show TAAAACGACAACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	314	0.0032	387	c.354 others(402): Show c.3544+59_3544+60insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGTTG TCGTTTT		NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	18/21						chr6	TogoVar
NXN_chr17_794310_984776	841445	C C	CACCCTGA others(380): Show CACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCA CACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGC AGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTG ACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCA TCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	160	0.0063	387	c.361 others(406): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCT GTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTG TGAGATGCTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952558	T T	TGGGGGGG others(380): Show TGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCAC GGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAG GTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	203	0.0049	387	c.360 others(406): Show c.360+26760_360+26761insCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGT GGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACC CCAGCCCCCCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAC others(380): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03834.hp2 NA19030.hp1 HG01433.hp2 HG03834.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0002g0119 a0001c0001t0001g0015 a0001c0001t0001g0062 a0001c0001t0002g0119	3	150	0.0200	387	c.360 others(406): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTGTCTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AGTTGGAT others(380): Show AGTTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGT TGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGA TAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGG ATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGAT AAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAA TGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAAATGG ATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01433.hp1 HG01517.hp2 others(2): Show HG01099.hp1 HG01433.hp1 HG01517.hp2 HG02004.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004	a0001c0001t0004g0093 a0001c0002t0001g0060 a0001c0002t0004g0013 others(1): Show a0001c0001t0004g0093 a0001c0002t0001g0060 a0001c0002t0004g0013 a0001c0002t0004g0036	5	9	0.5556	387	c.161 others(404): Show c.1614+379_1614+380insATGGGTGGGTGGGCCAATGGTAGTTGGA TAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGT TGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGG TTGGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTG GATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTT GGATAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGA TAAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATAA ATGGATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATGGTTGGATA AATGGATGG		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(380): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	280	0.0036	387	c.143 others(402): Show c.143-497_143-496insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTGGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTC GCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGCT others(380): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTCGCAGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	318	0.0031	387	c.143 others(402): Show c.143-428_143-427insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTC GCGGGGG		PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02129.hp1 others(9): Show HG01433.hp1 HG01891.hp1 HG02129.hp1 HG02451.hp1 HG02602.hp2 HG02965.hp1 HG03098.hp1 HG03139.hp2 HG03453.hp1 NA18967.hp2 NA18982.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0001c0002t0004 a0003c0003t0003 a0001c0002t0002 a0001c0002t0004 a0003c0003t0003	a0001c0002t0002g0114 a0001c0002t0004g0044 a0001c0002t0004g0045 others(9): Show a0001c0002t0002g0114 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0067 a0001c0002t0004g0068 a0003c0003t0003g0077 a0003c0003t0003g0088 a0003c0003t0003g0090 a0003c0003t0003g0099 a0003c0003t0003g0109 a0003c0003t0003g0113 a0003c0003t0003g0308	12	22	0.5455	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18984.hp2 HG03486.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0006 a0003c0003t0003 a0001c0002t0006 a0003c0003t0003	a0001c0002t0006g0087 a0003c0003t0003g0110 a0001c0002t0006g0087 a0003c0003t0003g0110	2	12	0.1667	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02897.hp2 HG01891.hp2 HG02809.hp1 HG02897.hp2	a0003 a0003	a0003c0003 a0003c0025 a0003c0003 a0003c0025	a0003c0003t0008 a0003c0025t0003 a0003c0003t0008 a0003c0025t0003	a0003c0003t0008g0078 a0003c0003t0008g0079 a0003c0025t0003g0085 a0003c0003t0008g0078 a0003c0003t0008g0079 a0003c0025t0003g0085	3	13	0.2308	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0003 a0003c0020t0003	a0003c0020t0003g0086 a0003c0020t0003g0086	1	11	0.0909	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00738.hp2 others(6): Show HG00099.hp2 HG00323.hp1 HG00738.hp2 HG01081.hp1 HG01123.hp2 HG02683.hp2 HG04199.hp2 NA18982.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0026 a0003c0003 a0003c0026	a0003c0003t0003 a0003c0003t0006 a0003c0003t0013 others(1): Show a0003c0003t0003 a0003c0003t0006 a0003c0003t0013 a0003c0026t0003	a0003c0003t0003g0007 a0003c0003t0003g0013 a0003c0003t0003g0091 others(5): Show a0003c0003t0003g0007 a0003c0003t0003g0013 a0003c0003t0003g0091 a0003c0003t0006g0007 a0003c0003t0006g0082 a0003c0003t0006g0083 a0003c0003t0013g0007 a0003c0026t0003g0081	9	19	0.4737	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCTGTGTGTG TGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTG CCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCC TTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0012 a0003c0003t0003g0012	2	12	0.1667	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTG CCTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGC TAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGG GGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTA GCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCT GGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(380): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTG TGTGTATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGG TGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAG CCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0140 a0001c0002t0006g0140	1	11	0.0909	387	c.-10 others(404): Show c.-10+1024_-10+1025insTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG TGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTG GCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTG GGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGC TAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGC CTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTG GCTAGCCTG		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCB1_chr20_8127266_8889900	8661993	T T	TAATTATT others(380): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATATACAATTATTTATTATATAAT TATATATAATATACAATTATTTATTATATAATTATATATAATATACAATT ATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTATA TATAATATACAATTATTTATTATATAATTATATATAATATACAATTATTT ATTATATAATTATATATAATATACAATTATTTATTATATAATTATATATA ATATACAATTATTTATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	98	0.0102	387	c.862 others(404): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATATACAATTATTTATTATATAATTATATAT AATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATT ATATAATTATATATAATATACAATTATTTATTATATAATTATATATAATA TACAATTATTTATTATATAATTATATATAATATACAATTATTTATTATAT AATTATATATAATATACAATTATTTATTATATAATTATATATAATATACA ATTATTTATTATATAATTATATATAATATACAATTATTTATTATATAATT ATATATAAT		PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31					INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CCAACCCC others(380): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACCG GGAACCGCCTCCCACTCCCCCCGCAACCCGGGAACCGCCTCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCGCAACCC CGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCCGCCTCCCACT CCCCCCACCAACCCCGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	185	0.0054	387	c.24 others(398): Show c.2490_*2491insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGG AACCGCCTCCCACCGGGAACCGCCTCCCACTCCCCCCGCAACCCGGGAAC CGCCTCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCC ACTCCCCCGCAACCCCGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGG AACCCGCCTCCCACTCCCCCCACCAACCCCGGAACCGCCTCCCACTCCCC CCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1201		chr1	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(380): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGAGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCCTGAGCCACCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	78	0.0128	387	c.550 others(404): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAACAAAAAA CTTTACTGA		PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5						chr5	TogoVar
PRPF31_chr19_54110754_54136713	54134145	C C	CCTCTCCA others(380): Show CCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCAC CTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCT CCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	217	0.0046	387	c.27 others(398): Show c.2713_*2714insCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTC CCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCC CCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCTT CTCTCCACCTCCCCTCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCT CTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCT		PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding					2433		chr19	TogoVar

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