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	status	chr	external
AAK1_chr2_69452997_69648739	69514621	CTGT CTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(100): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0002c0015 others(7): Show a0002c0002 a0002c0005 a0002c0015 a0002c0016 a0002c0019 a0002c0023 a0002c0024 a0003c0014 a0003c0020 a0003c0021	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(51): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0015 a0002c0002t0019 a0002c0002t0023 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0040 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0055 a0002c0002t0058 a0002c0002t0080 a0002c0002t0105 a0002c0002t0106 a0002c0002t0110 a0002c0002t0122 a0002c0002t0123 a0002c0002t0124 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0140 a0002c0002t0149 a0002c0002t0150 a0002c0005t0001 a0002c0005t0018 a0002c0005t0036 a0002c0005t0095 a0002c0005t0117 a0002c0005t0118 a0002c0005t0145 a0002c0015t0003 a0002c0015t0011 a0002c0016t0098 a0002c0016t0129 a0002c0019t0061 a0002c0023t0056 a0002c0024t0004 a0003c0014t0025 a0003c0020t0079 a0003c0021t0146	a0002c0002t0002g0018 a0002c0002t0002g0052 a0002c0002t0002g0060 others(100): Show a0002c0002t0002g0018 a0002c0002t0002g0052 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0003g0019 a0002c0002t0003g0022 a0002c0002t0003g0024 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0054 a0002c0002t0003g0057 a0002c0002t0004g0193 a0002c0002t0004g0210 a0002c0002t0004g0224 a0002c0002t0004g0225 a0002c0002t0004g0237 a0002c0002t0004g0238 a0002c0002t0004g0242 a0002c0002t0004g0243 a0002c0002t0004g0244 a0002c0002t0004g0248 a0002c0002t0004g0249 a0002c0002t0004g0263 a0002c0002t0006g0223 a0002c0002t0006g0226 a0002c0002t0006g0227 a0002c0002t0006g0228 a0002c0002t0006g0232 a0002c0002t0006g0233 a0002c0002t0006g0239 a0002c0002t0006g0240 a0002c0002t0006g0246 a0002c0002t0006g0250 a0002c0002t0006g0251 a0002c0002t0006g0256 a0002c0002t0011g0110 a0002c0002t0011g0113 a0002c0002t0011g0142 a0002c0002t0015g0002 a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0002t0019g0141 a0002c0002t0019g0143 a0002c0002t0019g0149 a0002c0002t0023g0034 a0002c0002t0023g0039 a0002c0002t0031g0252 a0002c0002t0031g0255 a0002c0002t0034g0001 a0002c0002t0035g0005 a0002c0002t0040g0042 a0002c0002t0043g0038 a0002c0002t0044g0040 a0002c0002t0045g0048 a0002c0002t0046g0033 a0002c0002t0047g0046 a0002c0002t0048g0025 a0002c0002t0049g0056 a0002c0002t0050g0026 a0002c0002t0051g0032 a0002c0002t0055g0029 a0002c0002t0058g0049 a0002c0002t0080g0109 a0002c0002t0105g0177 a0002c0002t0106g0173 a0002c0002t0110g0180 a0002c0002t0122g0247 a0002c0002t0123g0236 a0002c0002t0124g0235 a0002c0002t0125g0241 a0002c0002t0126g0203 a0002c0002t0127g0234 a0002c0002t0128g0202 a0002c0002t0140g0275 a0002c0002t0149g0297 a0002c0002t0150g0298 a0002c0005t0001g0162 a0002c0005t0018g0077 a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0036g0006 a0002c0005t0095g0163 a0002c0005t0117g0182 a0002c0005t0118g0183 a0002c0005t0145g0281 a0002c0015t0003g0028 a0002c0015t0011g0112 a0002c0016t0098g0106 a0002c0016t0129g0272 a0002c0019t0061g0075 a0002c0023t0056g0027 a0002c0024t0004g0260 a0003c0014t0025g0290 a0003c0014t0025g0291 a0003c0020t0079g0105 a0003c0021t0146g0282	103	296	0.3480	-3	c.162 others(12): Show c.1623_1625delACA	p.Gln others(6): Show p.Gln542del	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	13/22	2024/21157	1623/2886	541/961		chr2	TogoVar
ABCC11_chr16_48160773_48252539	48167586	TTCACGGA others(20): Show TTCACGGATTGTGCGCTGGATCAGGGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02293.hp1 HG02293.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0117 a0020c0033t0001g0117	1	156	0.0064	-27	c.393 others(36): Show c.3939_3965delCACCCTGATCCAGCGCACAATCCGTGA	p.Asp others(15): Show p.Asp1313_Arg1321del	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	29/30	4209/5894	3939/4149	1313/1382		chr16	TogoVar
ABCF3_chr3_184181199_184199005	184189906	AGTAAACT others(36): Show AGTAAACTCAAGATGCTGGAGAAGCTGTGAGTACAGCATCCTTG	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	-43	c.136 others(55): Show c.1368_1391+19delTAAACTCAAGATGCTGGAGAAGCTGTGAGTACA GCATCCTTGG	p.Ser others(19): Show p.Ser456_Leu464delinsArg	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	14/21	1377/2446	1368/2130	456/709	INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100832332	TTTG TTTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01952.hp1 HG01975.hp1 HG02258.hp2 others(9): Show HG01952.hp1 HG01975.hp1 HG02258.hp2 HG02559.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp1 NA19043.hp1	a0005 a0010 a0015 others(1): Show a0005 a0010 a0015 a0025	a0005c0014 a0005c0016 a0005c0029 others(4): Show a0005c0014 a0005c0016 a0005c0029 a0010c0039 a0010c0061 a0015c0046 a0025c0036	a0005c0014t0002 a0005c0014t0009 a0005c0014t0016 others(7): Show a0005c0014t0002 a0005c0014t0009 a0005c0014t0016 a0005c0014t0020 a0005c0016t0013 a0005c0029t0034 a0010c0039t0012 a0010c0061t0016 a0015c0046t0007 a0025c0036t0009	a0005c0014t0002g0034 a0005c0014t0009g0204 a0005c0014t0016g0167 others(9): Show a0005c0014t0002g0034 a0005c0014t0009g0204 a0005c0014t0016g0167 a0005c0014t0020g0031 a0005c0016t0013g0013 a0005c0016t0013g0014 a0005c0016t0013g0152 a0005c0029t0034g0015 a0010c0039t0012g0151 a0010c0061t0016g0226 a0015c0046t0007g0154 a0025c0036t0009g0189	12	236	0.0508	-3	c.233 others(12): Show c.2330_2332delCAA	p.Thr others(6): Show p.Thr777del	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	31/68	2369/6737	2330/5361	777/1786		chr3	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(563): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp2 HG02615.hp1 HG02809.hp2 others(1): Show HG02109.hp2 HG02615.hp1 HG02809.hp2 HG03540.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0145 a0018c0016t0001g0146 a0018c0016t0001g0318 others(1): Show a0018c0016t0001g0145 a0018c0016t0001g0146 a0018c0016t0001g0318 a0018c0016t0001g0346	4	285	0.0140	-570	c.318 others(9): Show c.3180_3749del	p.Thr others(15): Show p.Thr1061_Thr1250del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855709	ACTGCCCC others(734): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGG CTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACAT CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAG AGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02717.hp2	a0060 a0060	a0060c0097 a0060c0097	a0060c0097t0001 a0060c0097t0001	a0060c0097t0001g0160 a0060c0097t0001g0160	1	282	0.0035	-741	c.318 others(9): Show c.3180_3920del	p.Thr others(15): Show p.Thr1061_Thr1307del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3561/8960	3180/7707	1060/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855766	ACTGCCCC others(449): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04184.hp2 HG04184.hp2	a0078 a0078	a0078c0154 a0078c0154	a0078c0154t0001 a0078c0154t0001	a0078c0154t0001g0121 a0078c0154t0001g0121	1	241	0.0041	-456	c.323 others(9): Show c.3237_3692del	p.Thr others(15): Show p.Thr1080_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3618/8960	3237/7707	1079/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855795	GCTTCCTT others(1190): Show GCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTA GAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGA AGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTT CTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGG CTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACAT CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAG AGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCT GGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGC TGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAG AGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAA GTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTC TGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATCAGCGGGC TTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGAGGACATC AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTGGAGTAGA GGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTGCTGCCCCTG GAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACT GCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGA GACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAG TTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCT GGAGAAGTTCTAGAGACTTCTACCTCTGCGGTAGGGGACCTCAGTGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02109.hp1	a0052 a0052	a0052c0057 a0052c0057	a0052c0057t0005 a0052c0057t0005	a0052c0057t0005g0298 a0052c0057t0005g0298	1	366	0.0027	-1197	c.322 others(9): Show c.3224_4420del	p.Glu others(15): Show p.Glu1075_Gly1473del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3605/8960	3224/7707	1075/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(50): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18940.hp2 NA18955.hp1 NA19080.hp2 others(1): Show NA18940.hp2 NA18955.hp1 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198	4	145	0.0276	-57	c.363 others(66): Show c.3636_3692delCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCC TTCTGGAGAAGTTCTAGAGAC	p.Ala others(15): Show p.Ala1213_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4017/8960	3636/7707	1212/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(107): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03041.hp1 HG03041.hp1	a0066 a0066	a0066c0055 a0066c0055	a0066c0055t0001 a0066c0055t0001	a0066c0055t0001g0290 a0066c0055t0001g0290	1	142	0.0070	-114	c.357 others(9): Show c.3579_3692del	p.Ala others(15): Show p.Ala1194_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3960/8960	3579/7707	1193/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(164): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02280.hp1 HG02647.hp1 others(1): Show HG01884.hp1 HG02280.hp1 HG02647.hp1 HG03453.hp2	a0024 a0037 a0057 a0024 a0037 a0057	a0024c0117 a0037c0063 a0037c0064 others(1): Show a0024c0117 a0037c0063 a0037c0064 a0057c0062	a0024c0117t0013 a0037c0063t0001 a0037c0064t0001 others(1): Show a0024c0117t0013 a0037c0063t0001 a0037c0064t0001 a0057c0062t0001	a0024c0117t0013g0280 a0037c0063t0001g0007 a0037c0064t0001g0163 others(1): Show a0024c0117t0013g0280 a0037c0063t0001g0007 a0037c0064t0001g0163 a0057c0062t0001g0296	4	145	0.0276	-171	c.352 others(9): Show c.3522_3692del	p.Ala others(15): Show p.Ala1175_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3903/8960	3522/7707	1174/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(221): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02257.hp2 HG02451.hp2 others(7): Show HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03516.hp2	a0010 a0011 a0024 others(2): Show a0010 a0011 a0024 a0055 a0067	a0010c0142 a0011c0050 a0011c0054 others(4): Show a0010c0142 a0011c0050 a0011c0054 a0011c0088 a0024c0043 a0055c0087 a0067c0066	a0010c0142t0001 a0011c0050t0001 a0011c0050t0010 others(5): Show a0010c0142t0001 a0011c0050t0001 a0011c0050t0010 a0011c0054t0001 a0011c0088t0001 a0024c0043t0001 a0055c0087t0001 a0067c0066t0001	a0010c0142t0001g0154 a0011c0050t0001g0286 a0011c0050t0010g0165 others(7): Show a0010c0142t0001g0154 a0011c0050t0001g0286 a0011c0050t0010g0165 a0011c0054t0001g0201 a0011c0054t0001g0258 a0011c0088t0001g0016 a0024c0043t0001g0316 a0024c0043t0001g0317 a0055c0087t0001g0282 a0067c0066t0001g0208	10	151	0.0662	-228	c.346 others(9): Show c.3465_3692del	p.Ala others(15): Show p.Ala1156_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3846/8960	3465/7707	1155/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(278): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(15): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01243.hp2 HG01255.hp1 HG02145.hp1 HG02257.hp1 HG02572.hp1 HG03516.hp1 HG03654.hp1 HG03831.hp2 HG04184.hp1 NA18522.hp1 NA18980.hp2 NA19005.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0010 a0011 a0020 others(3): Show a0010 a0011 a0020 a0031 a0041 a0072	a0010c0011 a0011c0026 a0020c0141 others(5): Show a0010c0011 a0011c0026 a0020c0141 a0020c0143 a0020c0152 a0031c0052 a0041c0053 a0072c0145	a0010c0011t0001 a0010c0011t0002 a0011c0026t0001 others(6): Show a0010c0011t0001 a0010c0011t0002 a0011c0026t0001 a0020c0141t0003 a0020c0143t0003 a0020c0152t0003 a0031c0052t0001 a0041c0053t0001 a0072c0145t0001	a0010c0011t0001g0004 a0010c0011t0001g0262 a0010c0011t0001g0323 others(14): Show a0010c0011t0001g0004 a0010c0011t0001g0262 a0010c0011t0001g0323 a0010c0011t0002g0218 a0010c0011t0002g0219 a0010c0011t0002g0291 a0011c0026t0001g0014 a0011c0026t0001g0149 a0011c0026t0001g0150 a0020c0141t0003g0250 a0020c0143t0003g0252 a0020c0152t0003g0082 a0031c0052t0001g0313 a0031c0052t0001g0326 a0041c0053t0001g0042 a0041c0053t0001g0050 a0072c0145t0001g0359	18	159	0.1132	-285	c.340 others(9): Show c.3408_3692del	p.Ala others(15): Show p.Ala1137_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3789/8960	3408/7707	1136/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(335): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG01243.hp1 HG02055.hp2 others(11): Show HG00408.hp2 HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03688.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA20129.hp2	a0026 a0027 a0033 others(5): Show a0026 a0027 a0033 a0039 a0044 a0050 a0065 a0075	a0026c0058 a0026c0059 a0026c0061 others(10): Show a0026c0058 a0026c0059 a0026c0061 a0027c0147 a0027c0149 a0027c0156 a0033c0076 a0033c0077 a0039c0036 a0044c0073 a0050c0060 a0065c0099 a0075c0148	a0026c0058t0001 a0026c0059t0001 a0026c0061t0001 others(11): Show a0026c0058t0001 a0026c0059t0001 a0026c0061t0001 a0027c0147t0001 a0027c0149t0001 a0027c0156t0001 a0033c0076t0001 a0033c0077t0001 a0039c0036t0001 a0039c0036t0002 a0044c0073t0001 a0050c0060t0003 a0065c0099t0004 a0075c0148t0001	a0026c0058t0001g0206 a0026c0059t0001g0292 a0026c0061t0001g0210 others(11): Show a0026c0058t0001g0206 a0026c0059t0001g0292 a0026c0061t0001g0210 a0027c0147t0001g0148 a0027c0149t0001g0358 a0027c0156t0001g0243 a0033c0076t0001g0295 a0033c0077t0001g0155 a0039c0036t0001g0229 a0039c0036t0002g0309 a0044c0073t0001g0086 a0050c0060t0003g0213 a0065c0099t0004g0011 a0075c0148t0001g0328	14	155	0.0903	-342	c.335 others(9): Show c.3351_3692del	p.Ala others(15): Show p.Ala1118_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3732/8960	3351/7707	1117/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(392): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCC TGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03579.hp2 HG03579.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0190 a0023c0022t0001g0190	1	142	0.0070	-399	c.329 others(9): Show c.3294_3692del	p.Ala others(15): Show p.Ala1099_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3675/8960	3294/7707	1098/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856735	GCTGCCCC others(50): Show GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01123.hp1 HG01346.hp2 HG01517.hp2 others(7): Show HG01123.hp1 HG01346.hp2 HG01517.hp2 HG02273.hp2 HG02559.hp2 HG02735.hp1 HG02965.hp2 HG03669.hp2 HG06807.hp2 NA20300.hp2	a0006 a0022 a0023 others(4): Show a0006 a0022 a0023 a0056 a0074 a0080 a0089	a0006c0004 a0022c0110 a0023c0022 others(4): Show a0006c0004 a0022c0110 a0023c0022 a0056c0103 a0074c0071 a0080c0095 a0089c0134	a0006c0004t0001 a0022c0110t0004 a0023c0022t0001 others(5): Show a0006c0004t0001 a0022c0110t0004 a0023c0022t0001 a0023c0022t0002 a0056c0103t0001 a0074c0071t0001 a0080c0095t0001 a0089c0134t0001	a0006c0004t0001g0041 a0006c0004t0001g0112 a0006c0004t0001g0248 others(7): Show a0006c0004t0001g0041 a0006c0004t0001g0112 a0006c0004t0001g0248 a0022c0110t0004g0207 a0023c0022t0001g0157 a0023c0022t0002g0343 a0056c0103t0001g0226 a0074c0071t0001g0361 a0080c0095t0001g0046 a0089c0134t0001g0244	10	340	0.0294	-57	c.417 others(66): Show c.4170_4226delCATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGAC TACTGCCCCTGGAGTAGAGGA	p.Asp others(15): Show p.Asp1390_Glu1408del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4551/8960	4170/7707	1390/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856735	GCTGCCCC others(107): Show GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0062 a0062	a0062c0056 a0062c0056	a0062c0056t0001 a0062c0056t0001	a0062c0056t0001g0245 a0062c0056t0001g0245	1	331	0.0030	-114	c.416 others(9): Show c.4167_4280del	p.Glu others(15): Show p.Glu1389_Val1426del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4548/8960	4167/7707	1389/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAN_chr15_88798436_88880353	88856755	CATCAGCG others(50): Show CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAG TAGAGGAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp2 HG02602.hp2 HG02630.hp1 HG01361.hp2 HG02602.hp2 HG02630.hp1	a0001 a0011 a0047 a0001 a0011 a0047	a0001c0001 a0011c0050 a0047c0109 a0001c0001 a0011c0050 a0047c0109	a0001c0001t0001 a0011c0050t0001 a0047c0109t0001 a0001c0001t0001 a0011c0050t0001 a0047c0109t0001	a0001c0001t0001g0270 a0011c0050t0001g0286 a0047c0109t0001g0274 a0001c0001t0001g0270 a0011c0050t0001g0286 a0047c0109t0001g0274	3	362	0.0083	-57	c.422 others(66): Show c.4224_4280delGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGA GACTACTGCCCCTGGAGTAGA	p.Glu others(15): Show p.Glu1408_Val1426del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	4605/8960	4224/7707	1408/2568	INFO_REALIGN_3_PRIME	chr15	TogoVar
ACIN1_chr14_23053564_23100136	23080669	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(59): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01261.hp1 HG01884.hp1 HG01993.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02300.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03834.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18965.hp1 NA18967.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18988.hp1 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp2 NA21309.hp2	a0003 a0006 a0008 others(2): Show a0003 a0006 a0008 a0010 a0013	a0003c0004 a0003c0010 a0003c0013 others(8): Show a0003c0004 a0003c0010 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0006c0009 a0006c0019 a0008c0017 a0010c0020 a0013c0018	a0003c0004t0001 a0003c0010t0001 a0003c0010t0003 others(9): Show a0003c0004t0001 a0003c0010t0001 a0003c0010t0003 a0003c0013t0001 a0003c0015t0001 a0003c0021t0005 a0003c0022t0001 a0006c0009t0001 a0006c0019t0001 a0008c0017t0001 a0010c0020t0001 a0013c0018t0001	a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 others(51): Show a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0031 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0010t0001g0147 a0003c0010t0001g0148 a0003c0010t0001g0149 a0003c0010t0001g0150 a0003c0010t0003g0144 a0003c0013t0001g0145 a0003c0013t0001g0146 a0003c0013t0001g0151 a0003c0015t0001g0300 a0003c0015t0001g0301 a0003c0015t0001g0302 a0003c0021t0005g0076 a0003c0022t0001g0098 a0006c0009t0001g0017 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0197 a0006c0009t0001g0199 a0006c0019t0001g0029 a0008c0017t0001g0303 a0008c0017t0001g0304 a0010c0020t0001g0265 a0013c0018t0001g0026	62	348	0.1782	-3	c.663 others(10): Show c.663_665delGGA	p.Glu others(6): Show p.Glu222del	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	689/4460	663/3852	221/1283		chr14	TogoVar
ACR_chr22_50733204_50750339	50745023	TACCCCC TACCCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp2 HG00558.hp2 NA18943.hp1 others(1): Show HG00544.hp2 HG00558.hp2 NA18943.hp1 NA18989.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0001 a0005c0004t0001g0005 a0005c0004t0001g0012 others(1): Show a0005c0004t0001g0001 a0005c0004t0001g0005 a0005c0004t0001g0012 a0005c0004t0001g0120	4	462	0.0087	-6	c.110 others(15): Show c.1104_1109delCCCACC	p.Pro others(13): Show p.Pro369_Pro370del	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	5/5	1136/1430	1104/1266	368/421	INFO_REALIGN_3_PRIME	chr22	TogoVar
ADAMTS19_chr5_129455298_129743683	129461451	GCCGCCGC others(5): Show GCCGCCGCCTCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0045 a0009c0011t0002g0045	1	224	0.0045	-12	c.446 others(19): Show c.446_457delCGCCTCCCCCGC	p.Pro others(13): Show p.Pro149_Pro152del	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	2/23	540/5201	446/3642	149/1213	INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS8_chr11_130399923_130433609	130428222	GGCA GGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(194): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0017 others(1): Show a0001 a0005 a0017 a0019	a0001c0001 a0001c0008 a0001c0010 others(14): Show a0001c0001 a0001c0008 a0001c0010 a0001c0025 a0001c0026 a0001c0027 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0035 a0005c0005 a0005c0015 a0005c0016 a0005c0028 a0017c0033 a0019c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0008t0001 a0001c0010t0001 a0001c0010t0002 a0001c0010t0005 a0001c0025t0001 a0001c0026t0001 a0001c0027t0001 a0001c0029t0002 a0001c0030t0005 a0001c0031t0002 a0001c0032t0004 a0001c0035t0002 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0015t0003 a0005c0016t0006 a0005c0028t0001 a0017c0033t0001 a0019c0034t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0004g0152 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0092 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0118 a0001c0001t0005g0131 a0001c0001t0012g0063 a0001c0008t0001g0002 a0001c0008t0001g0028 a0001c0008t0001g0029 a0001c0008t0001g0064 a0001c0008t0001g0070 a0001c0008t0001g0074 a0001c0008t0001g0115 a0001c0008t0001g0134 a0001c0010t0001g0075 a0001c0010t0001g0076 a0001c0010t0001g0077 a0001c0010t0001g0078 a0001c0010t0001g0082 a0001c0010t0001g0086 a0001c0010t0001g0119 a0001c0010t0002g0150 a0001c0010t0005g0079 a0001c0025t0001g0050 a0001c0026t0001g0051 a0001c0027t0001g0052 a0001c0029t0002g0148 a0001c0030t0005g0085 a0001c0031t0002g0144 a0001c0032t0004g0153 a0001c0035t0002g0154 a0005c0005t0001g0019 a0005c0005t0001g0067 a0005c0005t0001g0104 a0005c0005t0001g0106 a0005c0005t0001g0120 a0005c0005t0001g0124 a0005c0005t0001g0127 a0005c0005t0002g0146 a0005c0005t0003g0145 a0005c0005t0006g0024 a0005c0005t0006g0025 a0005c0005t0006g0030 a0005c0005t0006g0054 a0005c0005t0006g0103 a0005c0005t0006g0108 a0005c0005t0006g0117 a0005c0005t0006g0128 a0005c0005t0006g0132 a0005c0005t0006g0133 a0005c0005t0006g0135 a0005c0015t0003g0031 a0005c0015t0003g0155 a0005c0016t0006g0073 a0005c0016t0006g0080 a0005c0028t0001g0060 a0017c0033t0001g0139 a0019c0034t0001g0140	197	389	0.5064	-3	c.62_ others(8): Show c.62_64delTGC	p.Leu others(5): Show p.Leu21del	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	387/3628	62/2670	21/889		chr11	TogoVar
ADAMTSL3_chr15_83649123_84044842	83982688	CAGCGAAG others(5): Show CAGCGAAGCCAAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02257.hp2 HG02145.hp2 HG02257.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0124 a0017c0021t0001g0125 a0017c0021t0001g0124 a0017c0021t0001g0125	2	272	0.0074	-12	c.306 others(21): Show c.3063_3074delCGAAGCCAATAG	p.Glu others(15): Show p.Glu1022_Ser1025del	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	21/30	3250/7299	3063/5076	1021/1691	INFO_REALIGN_3_PRIME	chr15	TogoVar
ADGRA1_chr10_133082924_133136675	133128642	TTCGGGGC others(5): Show TTCGGGGCGCTGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19009.hp2 NA19009.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0129 a0008c0025t0001g0129	1	366	0.0027	-12	c.815 others(19): Show c.815_826delTCGGGGCGCTGG	p.Phe others(19): Show p.Phe272_Ala276delinsSer	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1232/4264	815/1683	272/560		chr10	TogoVar
ADM2_chr22_50476543_50491437	50482719	AACACTCG others(11): Show AACACTCGGGCCCCCGAAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(71): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01255.hp2 HG01358.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA19005.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0005 a0005c0006 a0002c0002 a0002c0005 a0005c0006	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(21): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0010 a0002c0002t0023 a0002c0002t0024 a0002c0002t0030 a0002c0002t0031 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0049 a0002c0002t0054 a0002c0002t0057 a0002c0002t0059 a0002c0002t0067 a0002c0002t0068 a0002c0002t0070 a0002c0002t0080 a0002c0002t0082 a0002c0002t0085 a0002c0005t0001 a0005c0006t0009	a0002c0002t0001g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 others(21): Show a0002c0002t0001g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 a0002c0002t0009g0001 a0002c0002t0010g0001 a0002c0002t0023g0001 a0002c0002t0024g0001 a0002c0002t0030g0001 a0002c0002t0031g0001 a0002c0002t0035g0001 a0002c0002t0036g0001 a0002c0002t0037g0001 a0002c0002t0049g0001 a0002c0002t0054g0001 a0002c0002t0057g0001 a0002c0002t0059g0001 a0002c0002t0067g0001 a0002c0002t0068g0001 a0002c0002t0070g0001 a0002c0002t0080g0001 a0002c0002t0082g0001 a0002c0002t0085g0001 a0002c0005t0001g0001 a0005c0006t0009g0001	74	444	0.1667	-18	c.279 others(25): Show c.279_296delAAGACACTCGGGCCCCCG	p.Arg others(11): Show p.Arg94_Arg99del	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	511/4213	279/447	93/148	INFO_REALIGN_3_PRIME	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482725	CGGGCCCC others(8): Show CGGGCCCCCGAAGACA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	444	0.0023	-15	c.270 others(22): Show c.270_284delGGGCCCCCGAAGACA	p.Gly others(11): Show p.Gly91_His95del	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	502/4213	270/447	90/148		chr22	TogoVar
ADPRHL1_chr13_113394611_113458488	113404036	TGAGCCCG others(29): Show TGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp1 HG03239.hp1 NA18983.hp2 HG03209.hp1 HG03239.hp1 NA18983.hp2	a0018 a0019 a0024 a0018 a0019 a0024	a0018c0025 a0019c0045 a0024c0050 a0018c0025 a0019c0045 a0024c0050	a0018c0025t0039 a0019c0045t0001 a0024c0050t0001 a0018c0025t0039 a0019c0045t0001 a0024c0050t0001	a0018c0025t0039g0260 a0019c0045t0001g0151 a0024c0050t0001g0180 a0018c0025t0039g0260 a0019c0045t0001g0151 a0024c0050t0001g0180	3	260	0.0115	-36	c.521 others(45): Show c.5210_5245delGGGAACAGGCCCAGAAAGGGGCTCAGGAACGGGCTC	p.Arg others(15): Show p.Arg1737_Ala1748del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5296/9722	5210/5904	1737/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404080	TTCCTGAG others(65): Show TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTT TCTGGGCCTGTTCCCGAGCCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG01358.hp2 HG02055.hp2 others(5): Show HG00423.hp2 HG01358.hp2 HG02055.hp2 HG03130.hp2 HG03669.hp2 NA18999.hp1 NA20300.hp2 NA20905.hp2	a0003 a0008 a0003 a0008	a0003c0012 a0003c0015 a0003c0040 others(2): Show a0003c0012 a0003c0015 a0003c0040 a0003c0052 a0008c0047	a0003c0012t0033 a0003c0012t0034 a0003c0012t0037 others(4): Show a0003c0012t0033 a0003c0012t0034 a0003c0012t0037 a0003c0015t0014 a0003c0040t0035 a0003c0052t0036 a0008c0047t0004	a0003c0012t0033g0078 a0003c0012t0034g0015 a0003c0012t0037g0069 others(5): Show a0003c0012t0033g0078 a0003c0012t0034g0015 a0003c0012t0037g0069 a0003c0015t0014g0100 a0003c0015t0014g0102 a0003c0040t0035g0193 a0003c0052t0036g0153 a0008c0047t0004g0225	8	260	0.0308	-72	c.513 others(81): Show c.5130_5201delGCGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA ACGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA	p.Arg others(15): Show p.Arg1711_Glu1734del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5252/9722	5130/5904	1710/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404116	TTCCTGAG others(29): Show TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0045 a0002c0014t0045	a0002c0014t0045g0157 a0002c0014t0045g0157	1	260	0.0038	-36	c.513 others(45): Show c.5130_5165delGCGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA	p.Arg others(15): Show p.Arg1711_Glu1722del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5216/9722	5130/5904	1710/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404152	CTCCTGAG others(29): Show CTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02129.hp2 NA18950.hp2 NA18966.hp1 others(6): Show HG02129.hp2 NA18950.hp2 NA18966.hp1 NA18970.hp1 NA19000.hp1 NA19010.hp1 NA19057.hp1 NA19068.hp1 NA19091.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0001c0004 a0025c0055 a0001c0001 a0001c0004 a0025c0055	a0001c0001t0004 a0001c0001t0044 a0001c0004t0004 others(1): Show a0001c0001t0004 a0001c0001t0044 a0001c0004t0004 a0025c0055t0004	a0001c0001t0004g0026 a0001c0001t0004g0101 a0001c0001t0044g0117 others(6): Show a0001c0001t0004g0026 a0001c0001t0004g0101 a0001c0001t0044g0117 a0001c0004t0004g0093 a0001c0004t0004g0176 a0001c0004t0004g0178 a0001c0004t0004g0184 a0001c0004t0004g0226 a0025c0055t0004g0261	9	141	0.0638	-36	c.509 others(45): Show c.5094_5129delACGGGCTCGGGAACAGGCCCAGAAAGGGGCTCAGGA	p.Arg others(15): Show p.Arg1699_Glu1710del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5180/9722	5094/5904	1698/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404236	TTTCTGGG others(29): Show TTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0016 a0021c0038t0016	a0021c0038t0016g0034 a0021c0038t0016g0034	1	260	0.0038	-36	c.501 others(45): Show c.5010_5045delGGGGGCTCAGGAACGGGCTCGGGAACAGGCCCAGAA	p.Gly others(15): Show p.Gly1671_Lys1682del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	5096/9722	5010/5904	1670/1967		chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404570	GGTTCCTG others(137): Show GGTTCCTGTGCCTGCCCCTGGGCCTCTATCTGGGTCTGCCACTGGGCCTG TTCTTGAGCGTGTCCCTGAGCCTGTCCCTGGGCCCAATTCTGAAACTGTT TCTGGGCCTGTCCCTGACTGTGTCCCTGGGTCCCACCCTGAGCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp1 HG00621.hp1	a0009 a0009	a0009c0048 a0009c0048	a0009c0048t0001 a0009c0048t0001	a0009c0048t0001g0016 a0009c0048t0001g0016	1	260	0.0038	-144	c.456 others(9): Show c.4568_4711del	p.Gln others(15): Show p.Gln1523_Glu1570del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4762/9722	4568/5904	1523/1967		chr13	TogoVar
ADRA2B_chr2_96107876_96121571	96115238	CTCCTCCT others(2): Show CTCCTCCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(119): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(6): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0008g0000 others(6): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0008g0000 a0002c0002t0012g0000 a0002c0002t0016g0000 a0002c0002t0017g0000 a0002c0002t0018g0000 a0002c0002t0019g0000 a0002c0007t0002g0000	122	388	0.3144	-9	c.903 others(16): Show c.903_911delAGAGGAGGA	p.Glu others(13): Show p.Glu302_Glu304del	ADRA2B	ENSG00000274286.2	transcript	ENST00000620793.2	protein_coding	1/1	1333/3696	903/1353	301/450		chr2	TogoVar
ADRA2C_chr4_3761385_3773526	3767481	CCGAGAGG others(59): Show CCGAGAGGCGGCGGCGCCGGGGCGCGTTGCGGCGGGGCGGGCGGCGGCGA GCGGGCGCGGAGGGGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03041.hp2 HG03041.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0000 a0007c0012t0003g0000	1	418	0.0024	-66	c.878 others(73): Show c.878_943delAGAGGCGGCGGCGCCGGGGCGCGTTGCGGCGGGGCGGG CGGCGGCGAGCGGGCGCGGAGGGGGGCG	p.Glu others(13): Show p.Glu293_Gly314del	ADRA2C	ENSG00000184160.8	transcript	ENST00000330055.7	protein_coding	1/1	1100/2142	878/1389	293/462	INFO_REALIGN_3_PRIME	chr4	TogoVar
ADRA2C_chr4_3761385_3773526	3767568	AGGGGGCG others(5): Show AGGGGGCGGGGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG00673.hp1 HG01081.hp2 others(65): Show HG00639.hp2 HG00673.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18995.hp1 NA19001.hp2 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0008	a0002c0003 a0002c0010 a0002c0014 others(4): Show a0002c0003 a0002c0010 a0002c0014 a0003c0006 a0005c0016 a0006c0013 a0008c0009	a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 others(7): Show a0002c0003t0002 a0002c0003t0006 a0002c0003t0007 a0002c0003t0009 a0002c0010t0002 a0002c0014t0002 a0003c0006t0002 a0005c0016t0002 a0006c0013t0002 a0008c0009t0002	a0002c0003t0002g0000 a0002c0003t0006g0000 a0002c0003t0007g0000 others(7): Show a0002c0003t0002g0000 a0002c0003t0006g0000 a0002c0003t0007g0000 a0002c0003t0009g0000 a0002c0010t0002g0000 a0002c0014t0002g0000 a0003c0006t0002g0000 a0005c0016t0002g0000 a0006c0013t0002g0000 a0008c0009t0002g0000	68	418	0.1627	-12	c.971 others(19): Show c.971_982delGGCCGGGGGCGG	p.Gly others(13): Show p.Gly324_Ala327del	ADRA2C	ENSG00000184160.8	transcript	ENST00000330055.7	protein_coding	1/1	1193/2142	971/1389	324/462	INFO_REALIGN_3_PRIME	chr4	TogoVar
AEBP1_chr7_44099345_44119560	44114097	GTGGAGCC others(17): Show GTGGAGCCCGAGTTTGAGACCCAGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03704.hp2 HG03704.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0002 a0011c0018t0001g0002	1	424	0.0024	-24	c.332 others(33): Show c.3321_3344delCGAGTTTGAGACCCAGTTGGAGCC	p.Glu others(15): Show p.Glu1108_Pro1115del	AEBP1	ENSG00000106624.11	transcript	ENST00000223357.8	protein_coding	21/21	3642/4097	3321/3477	1107/1158	INFO_REALIGN_3_PRIME	chr7	TogoVar
AHDC1_chr1_27529245_27609144	27549006	AAGG AAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02109.hp2 HG02451.hp1 others(8): Show HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0003c0009 a0004c0010 a0003c0004 a0003c0009 a0004c0010	a0003c0004t0001 a0003c0004t0004 a0003c0009t0001 others(1): Show a0003c0004t0001 a0003c0004t0004 a0003c0009t0001 a0004c0010t0001	a0003c0004t0001g0014 a0003c0004t0001g0054 a0003c0004t0001g0061 others(8): Show a0003c0004t0001g0014 a0003c0004t0001g0054 a0003c0004t0001g0061 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0107 a0003c0004t0004g0169 a0003c0009t0001g0065 a0003c0009t0001g0145 a0004c0010t0001g0010 a0004c0010t0001g0013	11	178	0.0618	-3	c.310 others(12): Show c.3107_3109delCCT	p.Ser others(7): Show p.Ser1036del	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	4010/6428	3107/4812	1036/1603		chr1	TogoVar
AHNAK2_chr14_104932253_104983374	104942038	TGGCATCT others(488): Show TGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGT CCTTGTCAGCCAGGGACAGGTCCCCCTCCAGCCGCGTACTGTCCAGCTTG GCTCCTGGGGCTTGGATGTCCACCTCCATGCTGGGCAGAGACACGTCCAG GTTGGGGGACGTCACCTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGA CATTAACGTCTATCTGGGGACCCTTGAGGTCCACTTTGGGTACCTTGAAA CTGGGCATCTGCAGCTTCGGCAGGTGCCCTTTGAGGCCGGCTCCCTCATG CACAGGGCCCTCTGGGAGTTTCACATCCTCTTGGCCAGCCTGGACCTCCA GATCAGCGGAAGGGGGCTGAATGCTGAGGTGAGTGGTCTTCAGGTCCCCC TGCATGGAGGGGAGGCTCACGTCAGCCTCCACCTTCAGCGCAGACACATC CAACGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp1 HG02717.hp1	a0077 a0077	a0077c0105 a0077c0105	a0077c0105t0002 a0077c0105t0002	a0077c0105t0002g0133 a0077c0105t0002g0133	1	354	0.0028	-495	c.129 others(11): Show c.12918_13412del	p.Ser others(15): Show p.Ser4307_Pro4471del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	13549/18335	12918/17388	4306/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104943691	CACCTTGG others(983): Show CACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAG GGCCCTTGAGGTCGACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG GGCAGGTGTCCTTTGAGGCCGGCTTCCTCGGGCACGTGGCCCTCCAGGAG TTTCATGTCCACCTGGCGAGCTTGGACCGTCAGGTCGGCAGAATGGGGCT GAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTC ACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCTCAATGGA CTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTGGGCATTT TGAATTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCC CCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGACGTCCAC CTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCT TGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC TTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAG GTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCA CATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATG CTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACATC GGCTTCCACCTTGGGTGCAGACACATCCACCGAGGCCTCCATGGACTTCC CTGGGGCCGATACCCTGAATGACGGCATCTTGAATTTGGGCATTTTGAAC TTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCTCCCTC CAGCCGCCCAGCATCCAGCTTGGCCTTCGGGGCCTGGACATCCACCTCCA CGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	-990	c.107 others(11): Show c.10770_11759del	p.Glu others(15): Show p.Glu3591_Val3920del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	11896/18335	10770/17388	3590/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104944681	TGCCTTGG others(1973): Show TGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGG GGCCCTTGAGGTCCACTTTGGGCGTCTTTAAACTGGGCATCTCCACTTTG GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCCAGGAG TTCCACATCCACTTGGACAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCT GAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTC ACGTCGGCCTCCACCTTCGGCGCAGACACATCCAGCGAGGCCTCGATGGA CCTGCCTGGGGCCGACACCCCGAAGGAGGGCATCTTGAACTTGGGCATTT TGAACTTGCTGTCTTTGGCAGTCACATCCTTTTCAGCCAGGGACAGGTCC CCCTCCAGCCGCGCACCATCCAGCTTGGCTCTCGGGGCCTGGACGTCCAC CTCCACGCTGGGCAGAGACACCTCCACATCAGGGACTGTCACTTCCGCCT TGGGGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCTC TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAG GTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCA CGTCCACCTGGCCAGCCTGGACCTCCAGGTCCACAGAAGGGAGCTGAATG CTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTC GGCCTCCGCCTTCGGCGCAGACACATCCACCGAGGCCTGGATGGACTTGC CTGGGGCAGACGCCCTGTACGACGGCATCTTGAATTTGGGCATTTTGAAC TTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTC CAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACGTCCACCTCCA TGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCACATCCATCTTCGGG CCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGCG ATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCC CTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCC ACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGAT GTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCT CCACCTTTGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGG GCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT GTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCC GTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCG GGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTT CAGGTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTA CTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTG AGGCCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTG GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAG TGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACC TTCGGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGA CACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTT TGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCA CCATCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAG AGACACCTCCACGTCGGGGGCCGTCACCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02273.hp2 HG02273.hp2	a0064 a0064	a0064c0079 a0064c0079	a0064c0079t0002 a0064c0079t0002	a0064c0079t0002g0085 a0064c0079t0002g0085	1	354	0.0028	-1980	c.879 others(10): Show c.8790_10769del	p.Glu others(15): Show p.Glu2931_Ala3590del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10906/18335	8790/17388	2930/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945398	GAGGTCCC others(983): Show GAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCGCCTTCGGCG CAGACACATCCACCGAGGCCTGGATGGACTTGCCTGGGGCAGACGCCCTG TACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT CACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCA ACTTGGCTCCTGGGGCCTCGACGTCCACCTCCATGCTGGGCTGAGACACC TCCACGTCGGGGGCCGTCACATCCATCTTCGGGCCTTTCAGGTCCAGCTT GGGGCCCTTGATGTCTATCTGGGGGCCCTTGCGATCTACTTTGGGCATCT TGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCC TCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCCTGGAC CTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTTCAGGT CCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCTCCACCTTTGGCGCAGAC ACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGA CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT CCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTG GCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCTCCAC GTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGC CCTTGACATCTATCTGGGGTCCCTTGCGATCTACTTTGGGCATCTTGAAA CTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGG AACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCTGGACCTCCA GTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	353	0.0057	-990	c.906 others(10): Show c.9063_10052del	p.Lys others(15): Show p.Lys3022_Leu3351del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10189/18335	9063/17388	3021/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104945515	TTTGGGCA others(488): Show TTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCA GGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCC TCGACGTCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGT CACATCCATCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTA TCTGGGGGCCCTTGCGATCTACTTTGGGCATCTTGAAACTGGGCATCTGC AACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTC TGGGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGG GGGGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGG AGGCTCAGGTCGGCCTCCACCTTTGGCGCAGACACATCCACCAAGACCTC AATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(66): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0009 others(21): Show a0001 a0002 a0009 a0018 a0019 a0026 a0031 a0035 a0041 a0044 a0045 a0049 a0054 a0057 a0060 a0068 a0069 a0081 a0090 a0097 a0101 a0110 a0111 a0112	a0001c0001 a0002c0003 a0002c0005 others(30): Show a0001c0001 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0009c0009 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0041c0053 a0044c0131 a0045c0140 a0049c0135 a0054c0097 a0057c0070 a0060c0142 a0068c0127 a0069c0136 a0081c0124 a0090c0098 a0097c0122 a0101c0141 a0110c0048 a0111c0052 a0112c0132	a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 others(32): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0009c0009t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0041c0053t0002 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0054c0097t0002 a0057c0070t0001 a0060c0142t0002 a0068c0127t0002 a0069c0136t0002 a0081c0124t0002 a0090c0098t0002 a0097c0122t0002 a0101c0141t0002 a0110c0048t0002 a0111c0052t0002 a0112c0132t0015	a0001c0001t0001g0208 a0002c0003t0002g0006 a0002c0003t0002g0038 others(47): Show a0001c0001t0001g0208 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0009c0009t0002g0005 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0041c0053t0002g0147 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0054c0097t0002g0247 a0057c0070t0001g0209 a0060c0142t0002g0225 a0068c0127t0002g0145 a0069c0136t0002g0257 a0081c0124t0002g0246 a0090c0098t0002g0203 a0097c0122t0002g0180 a0101c0141t0002g0219 a0110c0048t0002g0256 a0111c0052t0002g0146 a0112c0132t0015g0258	69	353	0.1955	-495	c.944 others(9): Show c.9441_9935del	p.Phe others(15): Show p.Phe3148_Lys3312del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	10072/18335	9441/17388	3147/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946949	GGCCTCGA others(488): Show GGCCTCGATGGACTTGCCTGGGGCCGACACCCCGAATGACGGCATCTTGA ACTTGGGCATTTTGAACTTGCTGTCTTTGGCTGTCATGCCCTTGTCGGCC AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG TCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGGGCCCTTAACATCT ATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGAAACTGGGCATCTG CAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCT CTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAG GGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCCCTTGCATGGAGGG GAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACATCCACCAAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG03139.hp2 HG02055.hp1 HG03139.hp2	a0029 a0029	a0029c0024 a0029c0024	a0029c0024t0001 a0029c0024t0001	a0029c0024t0001g0087 a0029c0024t0001g0248 a0029c0024t0001g0087 a0029c0024t0001g0248	2	354	0.0056	-495	c.800 others(9): Show c.8007_8501del	p.Leu others(15): Show p.Leu2670_Ala2834del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8638/18335	8007/17388	2669/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947036	GCCCTTGT others(488): Show GCCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCT TTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTC ACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGG GCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGA AACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCG GGAACGTGGCCCTCTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTC CAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCC CTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACA TCCACCAACGCCTCGATGGACTCGCCTGGGGCCGACACCCTGAATGATGG CATCTTGAACTTGGGCATTTTGAACTTGCTATCTTTGGCTGTCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02965.hp2 HG02965.hp2	a0083 a0083	a0083c0073 a0083c0073	a0083c0073t0001 a0083c0073t0001	a0083c0073t0001g0094 a0083c0073t0001g0094	1	352	0.0028	-495	c.792 others(9): Show c.7920_8414del	p.Val others(15): Show p.Val2641_Gly2805del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8551/18335	7920/17388	2640/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947643	GTCACTTC others(488): Show GTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACATC TAGCTGGGGGCCCTTGAGGTCCATTTCAGGCATCTTGAAACTGGGCATCT GCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGCACAGGGCCC TCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCGGA AGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGG AGAGGCTCCCGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGGCC TCGATGGACTTGCCTGGGGCAGACACCCCGAATGACGGCATCTTGAACTT GGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATCCTTGTCCGCCACAG ACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCTCCCGGGGCCTCG ACATCCACCTCCACGCTGGGCTGAGACACCTCCACGTCGGGGGCCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0087 a0098 a0087 a0098	a0087c0087 a0098c0100 a0087c0087 a0098c0100	a0087c0087t0001 a0098c0100t0001 a0087c0087t0001 a0098c0100t0001	a0087c0087t0001g0103 a0098c0100t0001g0217 a0087c0087t0001g0103 a0098c0100t0001g0217	2	354	0.0056	-495	c.731 others(9): Show c.7313_7807del	p.Met others(15): Show p.Met2438_Val2602del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7944/18335	7313/17388	2438/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947714	CATTTCAG others(488): Show CATTTCAGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTT TGAGGCCGGCTCCCTCCGGCACAGGGCCCTCTGGGAGTTTCACGTCCACT TGGCCAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTC AGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTCCCGTCGGCCTCCA CCTTCGGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCGAATGACGGCATCTTGAACTTGGGAATTTTGAACCTGCTGTC TTTGGTAGTCACATCCTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACG CACCATCCAGCTTGGCTCCCGGGGCCTCGACATCCACCTCCACGCTGGGC TGAGACACCTCCACGTCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAG GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGGCCCTTGAGATCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03516.hp1 HG03516.hp1	a0092 a0092	a0092c0066 a0092c0066	a0092c0066t0001 a0092c0066t0001	a0092c0066t0001g0108 a0092c0066t0001g0108	1	353	0.0028	-495	c.724 others(9): Show c.7242_7736del	p.Asp others(15): Show p.Asp2415_Met2579del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7873/18335	7242/17388	2414/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948332	AGCGGAAG others(488): Show AGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCA TGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCCGCT GAGGCCTCGATGGACTTGCCAAGGGCAGACACCCCAAACGACAGCATCTT GAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGG CCAGGGACATGTCCCCCTCCAGCCGCGCACCATCCAGCTTGGCTCCTGGG GCCTTGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGC TGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGT CTATTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATC TGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCC CTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18999.hp2 NA18999.hp2	a0107 a0107	a0107c0082 a0107c0082	a0107c0082t0002 a0107c0082t0002	a0107c0082t0002g0244 a0107c0082t0002g0244	1	353	0.0028	-495	c.662 others(9): Show c.6624_7118del	p.Asp others(15): Show p.Asp2209_Ala2373del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7255/18335	6624/17388	2208/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948404	CTCCACCT others(1973): Show CTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTTGCCAA GGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGAACTTG CTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCCTCCAG CCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTCCACGC TGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCT TTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTC CACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTT TGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACC TGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTC AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTG AGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGC AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGA ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC ACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAG CTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCT CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC CCCCTGCATGGAGGGGAGGCTCACATCAGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0004 a0002c0005t0002g0004	1	354	0.0028	-1980	c.506 others(9): Show c.5067_7046del	p.Ala others(15): Show p.Ala1690_Glu2349del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7183/18335	5067/17388	1689/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948656	TAGGTCCA others(3458): Show TAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTCCA CTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTG AGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACCTG GCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTCAG TGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCACC TTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGA CACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTT TGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCA CTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAG AGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGT CCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTG GGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGGCC AGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCCAG TCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGGTC TTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTGGG TGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC TTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG GTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGCAG ACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAAC GACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCAC ATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCT TGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCC ACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGG GCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCA AACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCG GGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTC CAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCC CCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACA TCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGG CATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCT TGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCT CTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATC GGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCT TAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTG GGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACAC AGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGT CAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGC ATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCAC TGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCT TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCG GCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGG GGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGG CTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATG TCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCAT CTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGC CCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTG GAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGA GGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGG CCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAAC TTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAG GGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCT GCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTC ACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCAC CTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCA CCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCC AGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGG GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC CGCCTTGGGGCTTTTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	351	0.0028	-3465	c.333 others(9): Show c.3330_6794del	p.Lys others(15): Show p.Lys1111_Leu2265del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6931/18335	3330/17388	1110/5795		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948665	CTTGGGGC others(488): Show CTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTCCACTTTGGGCA CCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACT TCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTG GACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTCAGTGGTCTTGA GGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCACCTTGGGTGGA GACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAA CGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCA GGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGC TTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAGAGACACCTC GACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGTCCAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0235 a0001c0050t0001g0235	1	354	0.0028	-495	c.629 others(9): Show c.6291_6785del	p.Leu others(15): Show p.Leu2098_Lys2262del	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6922/18335	6291/17388	2097/5795		chr14	TogoVar

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